Ten and a half years ago Matt and I sat bewildered when our OB told us that our prenatal ultrasound showed our little baby girl had unusually bright kidneys. We began our search for answers ten and a half years ago, but all we found were more questions, that is, until last Thursday.
Naomi was born with club feet, a distended abdomen, and kidneys that functioned poorly. She grew into an intense, demanding, and draining baby, and then toddler. Then her eyes crossed. Then we were told she had a heart murmur. When our third daughter, Emma, was born with a similar condition both girls were given the diagnosis of Autosomal Recessive Polycystic Kidney Disease and Congenital Hepatic Fibrosis, called ARPKD/CHF for short, and we added the concerns of liver disease to our list of diagnoses.
We learned everything we could about ARPKD/CHF, but were still left with questions. Children with ARPKD/CHF have kidney and liver disease, but do not normally have crossed eyes, heart murmurs, and general developmental delays (unless it is delays from long hospitalizations due to illness). My girls had multiple neurological problems including: difficulties with balance and coordination, severe stuttering, severe speech apraxia, slowed mental processing times, eyes that were overly sensitive to light, nearsightedness, and decreased white matter volume on brain MRI. These problems, the experts told us, were not a part of ARPKD/CHF and must be purely coincidental.
We were told we knew for certain that the girls had a "ciliopathy," meaning a defect to a gene important for the proper functioning of the cilia (or tail-like structure) on many cells of the body, and that ARPKD/CHF was the one ciliopathy they shared the most features with. When Naomi began to struggle with obesity that no doctor could explain to me I had had enough. I researched every ciliopathy that had been documented so far in human history, looking for clues. What I found both shocked and scared me. I found Bardet-Biedl Syndrome (BBS).
BBS is also a ciliopathy that can cause polycystic kidneys and liver fibrosis, but can also cause a host of other conditions in children, including problems in almost every system of the body. It can cause neurological and developmental delays, it is often associated with severe speech problems, it can cause heart murmurs, crossed eyes, social communication issues, sensory-processing problems, and autistic-like traits. It can also cause morbid obesity. These findings were almost a relief to me: we had these issues already so finding a cause would have been a cause for celebration if it weren't for the main symptom of BBS: retinal degeneration inevitably leading to blindness.
I brought my findings up to several doctors who told me with certainty that my daughters did not have BBS. These doctors thought you had to be born with extra fingers and toes to have BBS (in actuality only 80% of patients with BBS have extra fingers and toes). They told me my girls weren't obese enough to have BBS, (but they wouldn't take into account that Naomi had had celiac disease for the first six years of her life and I had worked very hard to control the obesity after that). They told me that my girls would be mentally retarded if they had BBS (a very common and unfortunate misconception made by doctors who didn't understand that slow mental processing time is not the same as being stupid). And so I let the idea rest for awhile.
Last January, with Naomi's kidney function worsening, we saw a new nephrologist (kidney doctor). She told me with in no uncertain terms that my girls did NOT have ARPKD/CHF. Their kidneys were small instead of enlarged, and their blood pressure was not elevated as you would see in ARPKD. She believed their kidney condition was either Cystic Dysplastic Kidneys or Nephronopthisis, two kidney conditions that can be seen on their own, or as a feature of BBS. She didn't want to jump to the conclusion that the girls had BBS, but it was enough evidence for me.
I came home and joined the Families of Bardet-Biedl Syndrome Facebook group, where I found that there was an upcoming BBS convention in Iowa and that I could send in my children's blood samples for free genetic testing ahead of the conference if a doctor suspected they might have BBS. We sent our samples off in March and waited and tried not to think too much about it in the meantime.
-------------------------------------------
Last Thursday Matt and I met with a researcher from the Wynn Institute for Vision Research at the University of Iowa and she told us that Naomi and Emma do, in fact, have Bardet-Biedl Syndrome. After ten and a half years the genetic mutation has been found and we have a concrete diagnosis. She handed us papers that I wanted to just stare at stating:
A homozygous ATG>AGG nucleotide substitution resulting in an amino acid change of Met390Arg is present in the coding sequence of the BBS1 gene of this patient. This finding is consistent with the diagnosis of Bardet-Biedl Syndrome (BBS).
I read it over and over in the following days, because with that finding, everything changes.
What does this mean? It means Matt and I both carried the exact same mutation in one copy of our DNA and Naomi and Emma each happened to inherit that mutated copy of the BBS1 gene from both of us. Two mutated copies of the BBS1 gene means that the instructions to make the BBS1 protein are all screwed up and that protein is made incorrectly in both girls. The major problem is that this protein is needed (as Matt and I learned at the BBS conference this weekend, following the diagnosis) in nearly every cell of the body in order to help traffic other proteins up and down the cilia of the cells in order to send and receive messages from other cells. It's like having all the taxi cab drivers in the city drunk at once, which would severely affect the traffic flow in the city and may eventually crash the city completely. In addition the BBS1 protein also seems to somehow help the "garbage man" of the cells to collect the trash. When the "city" of the cells cannot effectively move traffic or take out the trash, they at first function poorly and eventually die.
It is this mutated BBS1 protein that causes cystic kidneys, liver fibrosis, poor neurological signaling, heart defects, skeletal defects, endocrine abnormalities, obesity, and eventual retinal degeneration leading to vision loss. We were told that Naomi's extreme sensitivity to light and Emma's near-sightedness are early signs of retinal degeneration and that they need to get to a pediatric ophthalmologist who is familiar with BBS as soon as possible for further, in depth testing including Optical Coherence Tomagraphy and Electroretinograms to evaluate the condition of their retinas. Unfortunately at this point in time, there is nothing they can do to slow the degeneration. Apart from a miracle of God or modern medicine, the girls will slowly go blind, probably over the next 10-20 years of their lives.
But here is where the good news comes in: that miracle of modern medicine may not be many years away. The University of Iowa has been given an enormous sum of money by a man with a similar retinal degeneration disease for the purpose of ending genetic retinal degeneration. They have built facilities and hired researchers and have begun trials of gene therapies that have had good success with other types of genetic retinal degeneration. Multiple children with genetic retinal degeneration have been treated in these trials with gene therapy and have had some vision restored. They told us at the conference that they believe gene therapy for the retinal degeneration of BBS is only single-digit years away from being a reality. And so we are sober, yet hopeful.
We met many other families, including adults with BBS this weekend. The conference center was full of white canes and guide dogs, but also full of smiles, laughter, and friendships. We learned from the few experts in the world working on BBS everything there is to know right now, and we in turn offered our insights to them so that they can further the research. We are hopeful.
Yet we are sober. This diagnosis has been an enormous collision of emotions for us: relief at finally knowing; sadness and fear for what is ahead. But that is still not all. The University of Iowa would also like blood samples from our boys. You see, Hannah, who was tested for BBS and found to be a carrier (one bad copy of the BBS gene, and one good copy) also has small kidneys and the same heart murmur as her sisters. Toby, who does not have cystic kidneys, has one small kidney that is out of place. Carriers for BBS do not normally show symptoms of the disease, which leads the U of I researchers to believe that there may still be another mutation, perhaps in a more kidney-related gene, that may be complicating our family's health picture further. These researchers will now be sequencing the entire exomes of all of our five children (some 20,000 genes each) in an effort to see if another genetic mutation is shared by our children that would explain why four out of five of our kids have unusual kidneys. This information will help them better understand the interactions of genes in the human genome, and it will help our family better understand the health of our children. It will be several months before we get results from all of this.
This is all very difficult for us to fully digest. When we return home I will have to begin the process of connecting our girls to the correct eye doctors and low-vision resources. I will have to argue with our school system until they conceded to teach them braille while they are young instead of waiting until they are blind, because while the potential of gene therapy is thrilling, it is not yet a reality we can count on. I will be working to connect with the Foundation Fighting Blindness and other resources which can help us on this journey. I will be working to implement more stringent dietary plans for both girls to control their weight and hopefully lower their chances of developing type II diabetes (though this may develop in BBS even with proper weight control). I will be taking Emma for further evaluations to determine the proper cause of and treatment for Emma's early puberty. And I will be sending copies of the girls' genetic testing results along with information on BBS to their geneticist, pediatrician, nephrologist, cardiologist, endocrinologist, GI doctor, speech therapist, and physical therapist.
And then, in the quiet moments, I will be grieving this new challenge that has been heaped upon more challenges in two little girls' lives.
Sunday, June 29, 2014
Thursday, May 29, 2014
The Chemistry of Meltdowns
It was the first concert we had been to in ten years, since the spring that I was pregnant with Naomi. Matt's favorite guitar player was in town, his mom and dad were watching our kids, and we were enjoying a marvelous performance together. We had just settled back into our second-row seats after the intermission when Matt's phone vibrated.
He didn't recognize the number. They called again and left a message. Then my phone vibrated with same number. Again they called twice and left a message. I hated to disrupt the entire second row and everyone behind them, but I was pretty sure this message was important. As soon as the song ended I made my way past applauding people, apologizing as I swiped their knees and stepped on their toes.
In the lobby I retrieved the message. It was Matt's dad calling from a new cell phone number we didn't recognize, but I didn't so much hear him as I heard the shrieking. Wild, panicky shrieks came one after another; hair-raising, blood-curdling screams of terror that made me want to drop everything and fly home with superhuman-mama speed. The volume was so loud that I hurried outside, worried that the screams now echoing through the empty lobby would make their way through the double doors and into the concert hall.
I recognized those shrieks, only they were older and more violent than ever, terrifyingly so. It had been over three years since I had last heard them. I was at the same time angry with Naomi and filled with compassion for her, sorry that Matt's parents were dealing with this, and embarrassed that it had happened again. I erased the message and dialed my home only to hear the continuing cadence of panic and anger, terror and rage ringing out so loud I had to shout to be heard over the phone.
I asked them to give the phone to Naomi but she swiped and punched and kicked with such force that they couldn't get near her. I asked them to put me on speaker phone and I tried to out-shout her, "Naomi! It's Mommy! NAOMI!! Calm down and listen to me!!" But I might as well have been shouting down an erupting volcano. Naomi was gone. She wasn't in that kicking, flailing, red-faced, shrieking body anymore. I knew, because I had fought that demon before, and that girl was not my daughter.
Matt's dad was bewildered. He had asked her to come inside for bed. That was all. And she had had plenty of warning. But she had dug in her heels. It started as stubbornness and anger. She was culpable for that wrong response, but the downward spiral that followed without warning I recognized as something far beyond her control. They had had to drag her inside as the whole neighborhood looked on, and they barely got her one-hundred-pound frame in the back door before she collapsed in her violent tantrum of nuclear proportions.
I asked to talk with Matt's mom. "Try talking to her gently," I coached, "Ask her if she thinks she's having a reaction. Tell her you think she'd feel better if she had an epsom salt bath."
I couldn't say much more because it was nearly impossible to yell loud enough to be heard. I thought about driving straight home, but I knew Matt would be worried, not knowing what had happened. I'm not terribly tech savvy, and forgot I could have sent him a text message. I decided to slip back in at the next applause, and I handed Matt a written synopsis on the back of a ticket stub, "Naomi is having a horrific meltdown."
If you're not familiar with autistic meltdowns you might assume I am a lenient parent, that I encourage tantrums by not disciplining them or by giving in to them. So let me quickly say: please educate yourself. Naomi has never once been rewarded for a tantrum: quite to the opposite, we dealt very strictly with them when she was little, before we understood them. The autistic child does not tantrum to get their way. Though it may initially begin as stubbornness, it quickly escalates out of their own control. They tantrum because they must. And no, a spanking will not cure it.
I sat, bewildered and worried, through the last four songs of the concert. I watched the fingers move and heard the notes, faintly, but my mind was racing through every food Naomi had eaten that day, any new chemical exposures she may have had. We knew these meltdowns were usually caused by exposure to foods containing large amounts of phenols, a chemical found naturally in many fruits and vegetables, but in especially high doses in artificial colors and some preservatives such as sodium benzoate.
Three years ago, when Naomi's diet had been full of "fruit" snacks, yogurt, Nestle Quick, fruit loops, soda, and other dye and preservative-containing foods these violent meltdowns often happened multiple times a day. She had been plagued by terrible headaches that were only worsened by Tylenol. She had had stiff, sore joints. She had been a miserable child, overwhelmed by the world around her, in constant pain or discomfort, withdrawn into a world of her own, then suddenly lashing out with violent, unpredictable force at the tiniest of disruptions.
But we had cracked that code. We had pinpointed phenols as the culprit. We had eliminated all artificial food dyes, sodium benzoate, Tylenol (which is itself a phenol), and even some natural foods high in phenols such as red wine vinegar. And she had vastly improved. The headaches disappeared, the joint pain subsided, and the angry, violent tantrums ceased completely. The dark bags under her eyes disappeared. She slept better. Just like that she was a different child, and every medical professional I mentioned this to looked at me like I'd grown three heads. The humored me, but I knew I was right.
Then tonight it reappeared, the child who might as well have been demon possessed. What went wrong? There was nothing, nothing new that she had been exposed to. She had eaten the most bland, tried and true foods. We hadn't gone swimming (chlorine exposure causes the same symptoms), she hadn't tried a new sunscreen, a new lotion, a new deodorant, nothing.
I was at the peak of mental frustration when I looked up at that guitar player in front of me and the idea crashed into my brain like a freight train: what if she's unable to process the chemicals released by her own anger? What if the only catalyst for her meltdown was her anger itself?
When we arrived home Naomi was almost back to her normal self. After 45 minutes of flailing, wailing, and shrieking, when Matt's mother had suggested to her that she might be having a reaction, she began to calm herself. She sang songs to her pet gerbil while she calmed down. When the epsom salt bath was ready, still feeling a bit stubborn, she claimed she didn't need it. She remained a bit on-edge the rest of the evening, arguing with Grandma that she ought to be able to sleep in her dirt-smeared pants if she wanted to. But by the time for tucking-in she gave her Grandpa a hug, told him she loved him, and shed tears of remorse when I explained how her tantrum had affected our evening out.
She didn't remember much of the tantrum itself, only the anger that led up to it. She said she just felt like she had to scream, like she had to kick and fight, her body compelled her to. She didn't feel like she was in control of it at all. Looking back she felt ashamed.
More determined than ever to find answers for my daughter I have spent the last few days at my computer like a madwoman giving myself a crash course on biochemistry, the degradation pathways of catecholamines, and the three phases of liver detoxification. And I think I've found it. I'm almost sure I have.
-----------
We know that Naomi, and many children with Autism lack the proper metabolic pathways to excrete phenols efficiently.
From Wikipedia: "Rosemary Waring a reader in human toxicology at the School of Biosciences, University of Birmingham, was the first researcher to produce scientific evidence suggestive of abnormal sulfur metabolism affecting people with autism spectrum disorders. Her findings suggest that people with autism present with consistently lower levels of circulating plasma sulfate and higher than normal levels of urinary sulfate than non-symptomatic controls (reflective of excessive 'dumping' of sulfate into the urine). Follow-up work has suggested that people with autism also present with higher than normal levels of other sulfur-related compounds, including sulfite. Waring found that most people with autism conditions have a deficiency in a key detoxification pathway involved with sulfation. The enzyme involved is phenol sulfur-transferase (PST), which is essential to the process of breaking down and removing certain toxins from the body. Waring postulates that symptoms arise from an inadequate supply of usable sulfate ions, rather than from a deficiency of the metabolic enzyme itself."
In other words, phenols must have a sulfate attached to them by certain enzymes in the liver in order to make them water soluble, and excretable by the kidneys. If the phenols aren't properly sulfated they will build up in the blood. I'm not completely sure what they do there, but I think they may want to bind with organic acids where they are able to react with them, which might conceivably affect the krebs cycle or glycolysis pathways. This is one area I would like to research more. Whatever these excess phenols are doing in the body, it isn't pretty to watch a child with phenol toxicity suffer from headaches, joint pain, dark bags under the eyes, inexplicable fevers, irritability, and irrational tantrums of nuclear proportions.
But is it possible that anger itself, and that well-known fight-or-flight response can trigger phenol toxicity? Yes, I am almost certain of it, and here's why.
The chemicals released in a fight-or-flight response are called Catecholamines. Dopamine, epinephrine (adrenaline), and norepinephrine (noradrenaline) are the three major catecholamines released in fight-or-flight, and they are all phenols. These phenols are then degraded within a few minutes by Monoamine Oxidase and Catechol-O-Methyl transferase down to other forms of phenol abbreviated MOPEG and VMA as illustrated below from Neurotransmission: The Autonomic and Somatic Motor Nervous Systems.
Ultimately, these phenols (MOPEG and VMA) need to have a sulfate added to them by enzymes in the liver in order to be excreted by the kidneys just the same way that phenols from diet do. Without adequate sulfating, these phenols will build up in the blood.
If I'm correct here (and I'm no chemist so I'll admit I might be wrong), this does not just mean that the child will suffer from excess phenols, but that build-up of these phenolic metabolites will slow down the further degradation of these catecholamines. This would mean that dopamine, epinephrine, and norepinephrine themselves would stay at extremely high levels for long periods of time in a child who is not able to excrete their degraded forms quickly and efficiently.
While these catecholamines might be degraded and excreted within a few minutes in a healthy individual, for a child with impaired sulfating, these fight-or-flight chemicals may stay at extremely high levels for forty-five minutes or an hour. If this is true, this child very literally cannot calm down.
No amount of discipline or reason will calm the child in this physiological state. They must yell, they must fight, kick, scream, thrash, and shriek as these chemicals increase their heart rate, their blood flow increases, their blood pressure rises, their energy stores are released, and their attention narrows.
Akathisia "is a syndrome characterized by unpleasant sensations of inner restlessness that manifests itself with an inability to sit still or remain motionless." According this Wikipedia article, "It was discovered that akathisia involves increased levels of the neurotransmitter norepinephrine, which is associated with mechanisms that regulate aggression, alertness, and arousal." And again, from this article, "Severe akathisia can become a very harrowing experience. Jack Henry Abbot (1981) describes the sensation:
I cannot say for sure if my daughter suffers from an acute, hour-long akathisia due to norepinephrine overload, but it sounds hauntingly familiar. She says she must scream, she must kick, she must fight, no matter how ashamed she feels later; she has no control over it. And I think I am finally beginning to understand why.
Rosemary Waring demonstrated that many children with autism lack adequate sulfating pathways. She saw that children who ingested phenols in the form of food additives suffered symptoms that some have called phenol toxicity. She suggested that limiting dietary phenol intake in these children would improve symptoms. I have found this to be true with my daughter.
Though some research has touched on the roles of catecholamines in autism, like this study which found increased levels of catecholamines circulating in the blood of people with autism, and this study which found altered patterns of excretion of catecholamines and their metabolites in autistic children, and this rather frustrating study from as recently as 2013 which concludes that "neurotransmitters might play a key role" in autism and suggests that further research is needed, I cannot find anyone who has suggested that it is the phenolic properties of catecholamines and impaired sulfation that may underlie their altered metabolism.
I propose (as I cannot see anywhere else on the internet that this has been proposed, if I am wrong, please let me know) that children who lack adequate sulfating pathways also suffer from not only phenol overload but catecholamine overload when the fight-or-flight response is activated and these chemicals are not efficiently excreted because of impaired sulfation pathways. If I am correct, this is a plausible explanation of the chemical basis for the autistic meltdown.
My experience with Naomi seems to bear this out. When sulfate is absorbed into her skin in an Epsom salt bath, the readily available sulphates make it possible for her to quickly and efficiently excrete phenols. Twenty minutes later, she emerges from her bath as a new child: no headache, no joint pain, no stomach ache; not irritable or irrational, but bright and sweet and healthy as could be. This is equally true whether she is experiencing phenol toxicity from FD&C red dye 40, or from her own fight-or-flight meltdown.
There are many more questions to ponder here: why exactly do so many children have impaired sulphation? Has something made the enzymes sluggish? Are they wasting sulphate in the urine so that it is not available for the enzymes to use?
Beyond this, I know that my daughter adversely reacts (big time) to many common drugs that are not phenols, but are processed in phase one liver detoxification through an enzyme called Cytochrome P450 3A4 (CYP3A4). I have personally witness violent meltdowns in response to:
-Midazolam (Versed)
He didn't recognize the number. They called again and left a message. Then my phone vibrated with same number. Again they called twice and left a message. I hated to disrupt the entire second row and everyone behind them, but I was pretty sure this message was important. As soon as the song ended I made my way past applauding people, apologizing as I swiped their knees and stepped on their toes.
In the lobby I retrieved the message. It was Matt's dad calling from a new cell phone number we didn't recognize, but I didn't so much hear him as I heard the shrieking. Wild, panicky shrieks came one after another; hair-raising, blood-curdling screams of terror that made me want to drop everything and fly home with superhuman-mama speed. The volume was so loud that I hurried outside, worried that the screams now echoing through the empty lobby would make their way through the double doors and into the concert hall.
I recognized those shrieks, only they were older and more violent than ever, terrifyingly so. It had been over three years since I had last heard them. I was at the same time angry with Naomi and filled with compassion for her, sorry that Matt's parents were dealing with this, and embarrassed that it had happened again. I erased the message and dialed my home only to hear the continuing cadence of panic and anger, terror and rage ringing out so loud I had to shout to be heard over the phone.
I asked them to give the phone to Naomi but she swiped and punched and kicked with such force that they couldn't get near her. I asked them to put me on speaker phone and I tried to out-shout her, "Naomi! It's Mommy! NAOMI!! Calm down and listen to me!!" But I might as well have been shouting down an erupting volcano. Naomi was gone. She wasn't in that kicking, flailing, red-faced, shrieking body anymore. I knew, because I had fought that demon before, and that girl was not my daughter.
Matt's dad was bewildered. He had asked her to come inside for bed. That was all. And she had had plenty of warning. But she had dug in her heels. It started as stubbornness and anger. She was culpable for that wrong response, but the downward spiral that followed without warning I recognized as something far beyond her control. They had had to drag her inside as the whole neighborhood looked on, and they barely got her one-hundred-pound frame in the back door before she collapsed in her violent tantrum of nuclear proportions.
I asked to talk with Matt's mom. "Try talking to her gently," I coached, "Ask her if she thinks she's having a reaction. Tell her you think she'd feel better if she had an epsom salt bath."
I couldn't say much more because it was nearly impossible to yell loud enough to be heard. I thought about driving straight home, but I knew Matt would be worried, not knowing what had happened. I'm not terribly tech savvy, and forgot I could have sent him a text message. I decided to slip back in at the next applause, and I handed Matt a written synopsis on the back of a ticket stub, "Naomi is having a horrific meltdown."
If you're not familiar with autistic meltdowns you might assume I am a lenient parent, that I encourage tantrums by not disciplining them or by giving in to them. So let me quickly say: please educate yourself. Naomi has never once been rewarded for a tantrum: quite to the opposite, we dealt very strictly with them when she was little, before we understood them. The autistic child does not tantrum to get their way. Though it may initially begin as stubbornness, it quickly escalates out of their own control. They tantrum because they must. And no, a spanking will not cure it.
I sat, bewildered and worried, through the last four songs of the concert. I watched the fingers move and heard the notes, faintly, but my mind was racing through every food Naomi had eaten that day, any new chemical exposures she may have had. We knew these meltdowns were usually caused by exposure to foods containing large amounts of phenols, a chemical found naturally in many fruits and vegetables, but in especially high doses in artificial colors and some preservatives such as sodium benzoate.
Three years ago, when Naomi's diet had been full of "fruit" snacks, yogurt, Nestle Quick, fruit loops, soda, and other dye and preservative-containing foods these violent meltdowns often happened multiple times a day. She had been plagued by terrible headaches that were only worsened by Tylenol. She had had stiff, sore joints. She had been a miserable child, overwhelmed by the world around her, in constant pain or discomfort, withdrawn into a world of her own, then suddenly lashing out with violent, unpredictable force at the tiniest of disruptions.
But we had cracked that code. We had pinpointed phenols as the culprit. We had eliminated all artificial food dyes, sodium benzoate, Tylenol (which is itself a phenol), and even some natural foods high in phenols such as red wine vinegar. And she had vastly improved. The headaches disappeared, the joint pain subsided, and the angry, violent tantrums ceased completely. The dark bags under her eyes disappeared. She slept better. Just like that she was a different child, and every medical professional I mentioned this to looked at me like I'd grown three heads. The humored me, but I knew I was right.
Then tonight it reappeared, the child who might as well have been demon possessed. What went wrong? There was nothing, nothing new that she had been exposed to. She had eaten the most bland, tried and true foods. We hadn't gone swimming (chlorine exposure causes the same symptoms), she hadn't tried a new sunscreen, a new lotion, a new deodorant, nothing.
I was at the peak of mental frustration when I looked up at that guitar player in front of me and the idea crashed into my brain like a freight train: what if she's unable to process the chemicals released by her own anger? What if the only catalyst for her meltdown was her anger itself?
When we arrived home Naomi was almost back to her normal self. After 45 minutes of flailing, wailing, and shrieking, when Matt's mother had suggested to her that she might be having a reaction, she began to calm herself. She sang songs to her pet gerbil while she calmed down. When the epsom salt bath was ready, still feeling a bit stubborn, she claimed she didn't need it. She remained a bit on-edge the rest of the evening, arguing with Grandma that she ought to be able to sleep in her dirt-smeared pants if she wanted to. But by the time for tucking-in she gave her Grandpa a hug, told him she loved him, and shed tears of remorse when I explained how her tantrum had affected our evening out.
She didn't remember much of the tantrum itself, only the anger that led up to it. She said she just felt like she had to scream, like she had to kick and fight, her body compelled her to. She didn't feel like she was in control of it at all. Looking back she felt ashamed.
More determined than ever to find answers for my daughter I have spent the last few days at my computer like a madwoman giving myself a crash course on biochemistry, the degradation pathways of catecholamines, and the three phases of liver detoxification. And I think I've found it. I'm almost sure I have.
-----------
We know that Naomi, and many children with Autism lack the proper metabolic pathways to excrete phenols efficiently.
From Wikipedia: "Rosemary Waring a reader in human toxicology at the School of Biosciences, University of Birmingham, was the first researcher to produce scientific evidence suggestive of abnormal sulfur metabolism affecting people with autism spectrum disorders. Her findings suggest that people with autism present with consistently lower levels of circulating plasma sulfate and higher than normal levels of urinary sulfate than non-symptomatic controls (reflective of excessive 'dumping' of sulfate into the urine). Follow-up work has suggested that people with autism also present with higher than normal levels of other sulfur-related compounds, including sulfite. Waring found that most people with autism conditions have a deficiency in a key detoxification pathway involved with sulfation. The enzyme involved is phenol sulfur-transferase (PST), which is essential to the process of breaking down and removing certain toxins from the body. Waring postulates that symptoms arise from an inadequate supply of usable sulfate ions, rather than from a deficiency of the metabolic enzyme itself."
In other words, phenols must have a sulfate attached to them by certain enzymes in the liver in order to make them water soluble, and excretable by the kidneys. If the phenols aren't properly sulfated they will build up in the blood. I'm not completely sure what they do there, but I think they may want to bind with organic acids where they are able to react with them, which might conceivably affect the krebs cycle or glycolysis pathways. This is one area I would like to research more. Whatever these excess phenols are doing in the body, it isn't pretty to watch a child with phenol toxicity suffer from headaches, joint pain, dark bags under the eyes, inexplicable fevers, irritability, and irrational tantrums of nuclear proportions.
But is it possible that anger itself, and that well-known fight-or-flight response can trigger phenol toxicity? Yes, I am almost certain of it, and here's why.
The chemicals released in a fight-or-flight response are called Catecholamines. Dopamine, epinephrine (adrenaline), and norepinephrine (noradrenaline) are the three major catecholamines released in fight-or-flight, and they are all phenols. These phenols are then degraded within a few minutes by Monoamine Oxidase and Catechol-O-Methyl transferase down to other forms of phenol abbreviated MOPEG and VMA as illustrated below from Neurotransmission: The Autonomic and Somatic Motor Nervous Systems.
Ultimately, these phenols (MOPEG and VMA) need to have a sulfate added to them by enzymes in the liver in order to be excreted by the kidneys just the same way that phenols from diet do. Without adequate sulfating, these phenols will build up in the blood.
If I'm correct here (and I'm no chemist so I'll admit I might be wrong), this does not just mean that the child will suffer from excess phenols, but that build-up of these phenolic metabolites will slow down the further degradation of these catecholamines. This would mean that dopamine, epinephrine, and norepinephrine themselves would stay at extremely high levels for long periods of time in a child who is not able to excrete their degraded forms quickly and efficiently.
While these catecholamines might be degraded and excreted within a few minutes in a healthy individual, for a child with impaired sulfating, these fight-or-flight chemicals may stay at extremely high levels for forty-five minutes or an hour. If this is true, this child very literally cannot calm down.
No amount of discipline or reason will calm the child in this physiological state. They must yell, they must fight, kick, scream, thrash, and shriek as these chemicals increase their heart rate, their blood flow increases, their blood pressure rises, their energy stores are released, and their attention narrows.
Akathisia "is a syndrome characterized by unpleasant sensations of inner restlessness that manifests itself with an inability to sit still or remain motionless." According this Wikipedia article, "It was discovered that akathisia involves increased levels of the neurotransmitter norepinephrine, which is associated with mechanisms that regulate aggression, alertness, and arousal." And again, from this article, "Severe akathisia can become a very harrowing experience. Jack Henry Abbot (1981) describes the sensation:
...[It comes] from so deep inside you, you cannot locate the source of the pain … The muscles of your jawbone go berserk, so that you bite the inside of your mouth and your jaw locks and the pain throbs. … Your spinal column stiffens so that you can hardly move your head or your neck and sometimes your back bends like a bow and you cannot stand up. … You ache with restlessness, so you feel you have to walk, to pace. And then as soon as you start pacing, the opposite occurs to you; you must sit and rest. Back and forth, up and down you go … you cannot get relief …"
Rosemary Waring demonstrated that many children with autism lack adequate sulfating pathways. She saw that children who ingested phenols in the form of food additives suffered symptoms that some have called phenol toxicity. She suggested that limiting dietary phenol intake in these children would improve symptoms. I have found this to be true with my daughter.
Though some research has touched on the roles of catecholamines in autism, like this study which found increased levels of catecholamines circulating in the blood of people with autism, and this study which found altered patterns of excretion of catecholamines and their metabolites in autistic children, and this rather frustrating study from as recently as 2013 which concludes that "neurotransmitters might play a key role" in autism and suggests that further research is needed, I cannot find anyone who has suggested that it is the phenolic properties of catecholamines and impaired sulfation that may underlie their altered metabolism.
I propose (as I cannot see anywhere else on the internet that this has been proposed, if I am wrong, please let me know) that children who lack adequate sulfating pathways also suffer from not only phenol overload but catecholamine overload when the fight-or-flight response is activated and these chemicals are not efficiently excreted because of impaired sulfation pathways. If I am correct, this is a plausible explanation of the chemical basis for the autistic meltdown.
My experience with Naomi seems to bear this out. When sulfate is absorbed into her skin in an Epsom salt bath, the readily available sulphates make it possible for her to quickly and efficiently excrete phenols. Twenty minutes later, she emerges from her bath as a new child: no headache, no joint pain, no stomach ache; not irritable or irrational, but bright and sweet and healthy as could be. This is equally true whether she is experiencing phenol toxicity from FD&C red dye 40, or from her own fight-or-flight meltdown.
There are many more questions to ponder here: why exactly do so many children have impaired sulphation? Has something made the enzymes sluggish? Are they wasting sulphate in the urine so that it is not available for the enzymes to use?
Beyond this, I know that my daughter adversely reacts (big time) to many common drugs that are not phenols, but are processed in phase one liver detoxification through an enzyme called Cytochrome P450 3A4 (CYP3A4). I have personally witness violent meltdowns in response to:
-Midazolam (Versed)
-Fentanyl
-Dexamethasone (Decadron)
-Diazepam (Valium)
-Acetaminophen (Tylenol)
-Lidocaine
-Dextromethorphan (cough suppressant DM)
-Dexamethasone (Decadron)
-Diazepam (Valium)
-Acetaminophen (Tylenol)
-Lidocaine
-Dextromethorphan (cough suppressant DM)
All of which are processed by CYP3A4 in the liver. I don't know whether she has a genetic modification of this enzyme, or whether the Pregnane X Receptor which is supposed to cue this enzyme into action is the problem. Looking into things that downregulate PXR, which would ultimately lead to poor processing of these drugs is also fascinating, including inflammation. Let's not get into everything in our environments that could cause inflammation.
And so I have a lot left to think through, but I think I know this: my child who cannot tolerate dietary phenols also cannot tolerate the natural catecholamines released during the fight-or-flight response. Adding sulphate to her blood stream as epsom salts absorbed through her skin gives her almost immediate (within ten to twenty minutes) relief of all symptoms. I would also like to look at other ways to help her cope: dietary supplements, deescalating conflicts, calming techniques, and such, but understanding the chemical reactions are the basis for all of this, and something that is all too often overlooked in the study of autistic meltdowns, at least as far as I can see.
I need to add that Naomi is known to have both kidney and liver disease (polycystic kidneys and congenital hepatic fibrosis) that are not currently well understood in the medical world and are caused by a genetic mutation that had not yet been identified in Naomi. It is possible that her particular metabolic challenges are a result of her genetic defect and could not be applied to the autistic community as a whole, but if Dr. Waring is correct that a majority of autistic children have impaired sulfur metabolism, then I think it is reasonable to conclude that impaired catecholamine degradation may lie at the heart (or at least be a part) of the autistic meltdown.
While I am not a chemist, I did talk this through with my dad who holds a PhD in Chemistry, and he believes this is plausible. If anyone out there who has a background in biochemistry would like to challenge or confirm my musings, please do so, we could only both benefit from your insights.
Wednesday, May 28, 2014
Backyard
In the corner of the goal
Not wanting to be hit
In the shade of great walnut trees
Just bursting into leaf
She stands, arms crossed
Smiling a little at the boys
Running full-on towards her
With the pink community soccer ball
Across the dusty field
Her sister comes leaping
To guard the goal
That's not quiet guarded
Nimbly swiping the ball
From boys twice her size
A third sister giggles
At her good fortune
from the other side of the goal
She was jointly
Not quite guarding
In a corner of the dust field
Two brothers sit
Convinced they've found a sandbox
Developing roads and railroad tracks
And chasing down ant holes
With their newfound friend
She speaks no english
They speak no spanish
And no one minds
They understand just fine
The littlest brother peeks up
Catches my eye
And runs with joy-filled eyes
Towards me yelling
"Mama! Mama!"
To find a hug
And the assurance
I'm always watching
His friend follows
Explaining something exciting
In spanish
And when I explain
That I don't understand
She smiles, shrugs,
And somehow convinces
both of my sons
Without a word
To gather piles of last year's walnuts
To feed the squirrels
That she doesn't at all
Find a nuisance
When my littlest one
Sees the biggest boys
Jumping bicycles on ramps
He watches, mesmerized
Toes on the edge of the road
He knows he must not cross
Wishing I wasn't calling him to dinner
When there's so much to do
Outside
Not wanting to be hit
In the shade of great walnut trees
Just bursting into leaf
She stands, arms crossed
Smiling a little at the boys
Running full-on towards her
With the pink community soccer ball
Across the dusty field
Her sister comes leaping
To guard the goal
That's not quiet guarded
Nimbly swiping the ball
From boys twice her size
A third sister giggles
At her good fortune
from the other side of the goal
She was jointly
Not quite guarding
In a corner of the dust field
Two brothers sit
Convinced they've found a sandbox
Developing roads and railroad tracks
And chasing down ant holes
With their newfound friend
She speaks no english
They speak no spanish
And no one minds
They understand just fine
The littlest brother peeks up
Catches my eye
And runs with joy-filled eyes
Towards me yelling
"Mama! Mama!"
To find a hug
And the assurance
I'm always watching
His friend follows
Explaining something exciting
In spanish
And when I explain
That I don't understand
She smiles, shrugs,
And somehow convinces
both of my sons
Without a word
To gather piles of last year's walnuts
To feed the squirrels
That she doesn't at all
Find a nuisance
When my littlest one
Sees the biggest boys
Jumping bicycles on ramps
He watches, mesmerized
Toes on the edge of the road
He knows he must not cross
Wishing I wasn't calling him to dinner
When there's so much to do
Outside
Thursday, April 24, 2014
Update on Me: Finally a Doctor Who's On to Something
I wrote in January about the possibility that I would be diagnosed with Myasthenia Gravis. A neurologist in my home town had run a test that seemed to indicate a problem with the neuromuscular junction, which would explain the weakness and fatigue that I had been struggling with for about a year. My neurologist wanted me to see a neuromuscular specialist at a major teaching hospital about 3 hours away for more definitive testing, but that doctor couldn't see me until April. Being impatient, I found a doctor about 5 hours away who could see me in January, hoping I could get some treatment sooner. I haven't updated since, for fear that I sound like a hypochondriac with my constant health talk, but some of you have asked, so here's the update.
The January appointment with Dr. K was a huge disappointment. Dr. K decided before he even walked in the room that I was a hypochondriac. He subjected me to more psychological questions such as, "Why are you so worried about your health?" than questions related to my physical symptoms. He questioned everything I said, even going so far as to question whether my children really had celiac disease, until I told him that they had been diagnosed via intestinal biopsy at a children's hospital. He told me my neurologist had screwed up the tests and the results weren't reliable. He gave me a half-hearted exam that never properly tested the fatiguability of my muscles and then pronounced that I was suffering from stress and needed to take it easy for awhile.
Unfortunately, at that moment I was more shocked and disappointed than livid, and all I wanted to do was leave that office as quickly as possible, knowing that if I got overly emotional it would only confirm in his mind that I was over-stressed. Two hours later I was livid, and I remained livid for the next few weeks.
But my only real option was to wait patiently until my next appointment with the neuromuscular specialist I had been originally referred to, which was in April. I tried to will myself healthy again. I pushed myself to keep up with the chores, even when my arms felt like lead. I pushed myself to get out and get active, hoping it would make the weakness go away. But, no matter how I tried, I could not will my neck to support my head while I was driving. I tried and tried again, coaching myself, "Come on, Kathy, you can hold your neck up for a three minute drive to the store!" But I couldn't. It would tire and ache as if a hundred-pound weight were on it, then finally cave back against the headrest.
So I tried to rest, and I tried to remain active, and I used a neck pillow to prop my head up in the car, and sometimes at home, and I waited for April. I stayed off the internet, tried not to think about it, and waited. I had a couple weeks of feeling slightly better in early March (hence the burst of energy to replace my kitchen sink), but then slipped back down when I had a big week of activity and never really recovered.
The first week of April I had to take Naomi for a two-day trip to the children's hospital. I told myself I could make the 7 hour round trip, since the drive was split between two days, as long as I got plenty of sleep beforehand. That was a really dumb mistake. The drive there was far more challenging than I had expected. My arms got heavier and heavier. Lifting them up to hold the steering wheel felt like the final push for that last rep in a set of fifty dumb-bell curls. I could move them, but the effort it took was incredible. I lay one arm in my lap at all times, and drove with the other hand at the bottom of the wheel, switching periodically. Then my legs got heavy. I couldn't maintain the pressure needed on the gas peddle and had to use cruise control to regulate my speed for most of the drive. I used my left foot to brake a few times because my right leg felt so heavy.
The second day of our trip was far worse. We went to a children's museum in the morning, which was absolutely wonderful, but took it's toll by the time of the doctor's appointment. I began to feel weaker and weaker and had a headache. After the appointment, as we made our way through the hospital halls I began to feel nauseous, my head pounded, I tripped over my own foot once, broke a sweat, and thought I was going to pass out right there in the hall. I was thinking over and over, "Just make it to the van and you can rest." When I finally sat down in the driver's seat of the van I felt a familiar tightening and twisting in my brain--a migraine headache. I didn't know what to do: I was trapped over three hours from home. I decided just to make a run for it and see how far I could get out of the city, then I would pull over and get a hotel room if I needed to, but I just wanted out of the city. I don't remember much of that drive, other than I was in intense pain and was probably not very safe driving, but about two hours later the migraine lifted and the relative rest of sitting in the van had renewed my strength enough to make it all the way home. I vowed not to attempt that again.
Finally, last week, came my long-anticipated appointment with the neuromuscular specialist. Matt took the day off of work to drive me there. This lady doctor, Dr. B, was a night and day difference from Dr. K. She listened respectfully, took my symptoms seriously, and is testing me thoroughly. She never once asked me how much stress was in my life or why I was worried about my health. She ran a huge panel of blood tests and I will return on May 9th for further nerve and muscle tests. She is looking for signs of muscular dystrophies, myopathies, myasthenias, and metabolic abnormalities. I couldn't have been more thrilled with this doctor. I know that if modern medicine has the ability to detect my problem, this doctor will find it and help me.
Three days after my appointment Dr. B e-mailed me to say that my levels of Coenzyme Q10 were low, and that she wanted me to start on this supplement right away. If I understand it correctly, Coenzyme Q10 is necessary in nearly every cell of our bodies for the production of ATP, the energy source of cells. Without sufficient CoQ10 muscle cells may not be able to produce enough energy to respond properly. My level was well below the bottom of the reference range and only 31% of the average level found in healthy adults. The doctor believes this could be the reason for my muscle weakness and fatigue. We are still waiting on many more in-depth tests to come back which will tell us more about how my cells are producing energy and whether there is more to the picture than a simple deficiency.
We do not know why my CoQ10 levels are low. I eat a healthy, varied diet with few processed foods. My diet is rich in meat, eggs, and other foods high in CoQ10, but even if it wasn't, most of the CoQ10 in a body does not come from diet, the body is supposed to produce sufficient levels on its own. It's possible the problem could be a deeper genetic or mitochondrial disfunction that impairs my body's ability to produce CoQ10. Further testing is needed to sort that all out.
In the meantime, I have been taking a fairly high dose of CoQ10 (200mg, 2x/day) per Dr. B's instructions, and my levels will be tested again in a few months. I can't tell an ounce of difference in one week's time, but I guess it can take months to raise a body's levels of CoQ10, so I will have to be patient. I am happy to feel like we at least have something to go on now, some idea of what is wrong and how to help it.
On another note if I did have a genetic mutation that impaired production of CoQ10 (called Primary Coenzyme Q10 Deficiency, which sometimes manifests as muscle weakness in adults) this could have been passed on to my children. There are several case reports of children with Primary CoQ10 Deficiency who have presented with polycystic kidneys and neurological abnormalities. Since we still don't know what mutation plagues our children, this is an interesting possibility to me, especially since it could be treated with a simple supplement. I know I am getting ahead of myself here, we really don't know why my levels are low, but it makes me wonder.
All that to say, I think I have finally found real help, and am getting closer to some treatment that holds the promise of helping me feel human again, which is a very hopeful prospect. We shall see.
The January appointment with Dr. K was a huge disappointment. Dr. K decided before he even walked in the room that I was a hypochondriac. He subjected me to more psychological questions such as, "Why are you so worried about your health?" than questions related to my physical symptoms. He questioned everything I said, even going so far as to question whether my children really had celiac disease, until I told him that they had been diagnosed via intestinal biopsy at a children's hospital. He told me my neurologist had screwed up the tests and the results weren't reliable. He gave me a half-hearted exam that never properly tested the fatiguability of my muscles and then pronounced that I was suffering from stress and needed to take it easy for awhile.
Unfortunately, at that moment I was more shocked and disappointed than livid, and all I wanted to do was leave that office as quickly as possible, knowing that if I got overly emotional it would only confirm in his mind that I was over-stressed. Two hours later I was livid, and I remained livid for the next few weeks.
But my only real option was to wait patiently until my next appointment with the neuromuscular specialist I had been originally referred to, which was in April. I tried to will myself healthy again. I pushed myself to keep up with the chores, even when my arms felt like lead. I pushed myself to get out and get active, hoping it would make the weakness go away. But, no matter how I tried, I could not will my neck to support my head while I was driving. I tried and tried again, coaching myself, "Come on, Kathy, you can hold your neck up for a three minute drive to the store!" But I couldn't. It would tire and ache as if a hundred-pound weight were on it, then finally cave back against the headrest.
So I tried to rest, and I tried to remain active, and I used a neck pillow to prop my head up in the car, and sometimes at home, and I waited for April. I stayed off the internet, tried not to think about it, and waited. I had a couple weeks of feeling slightly better in early March (hence the burst of energy to replace my kitchen sink), but then slipped back down when I had a big week of activity and never really recovered.
The first week of April I had to take Naomi for a two-day trip to the children's hospital. I told myself I could make the 7 hour round trip, since the drive was split between two days, as long as I got plenty of sleep beforehand. That was a really dumb mistake. The drive there was far more challenging than I had expected. My arms got heavier and heavier. Lifting them up to hold the steering wheel felt like the final push for that last rep in a set of fifty dumb-bell curls. I could move them, but the effort it took was incredible. I lay one arm in my lap at all times, and drove with the other hand at the bottom of the wheel, switching periodically. Then my legs got heavy. I couldn't maintain the pressure needed on the gas peddle and had to use cruise control to regulate my speed for most of the drive. I used my left foot to brake a few times because my right leg felt so heavy.
The second day of our trip was far worse. We went to a children's museum in the morning, which was absolutely wonderful, but took it's toll by the time of the doctor's appointment. I began to feel weaker and weaker and had a headache. After the appointment, as we made our way through the hospital halls I began to feel nauseous, my head pounded, I tripped over my own foot once, broke a sweat, and thought I was going to pass out right there in the hall. I was thinking over and over, "Just make it to the van and you can rest." When I finally sat down in the driver's seat of the van I felt a familiar tightening and twisting in my brain--a migraine headache. I didn't know what to do: I was trapped over three hours from home. I decided just to make a run for it and see how far I could get out of the city, then I would pull over and get a hotel room if I needed to, but I just wanted out of the city. I don't remember much of that drive, other than I was in intense pain and was probably not very safe driving, but about two hours later the migraine lifted and the relative rest of sitting in the van had renewed my strength enough to make it all the way home. I vowed not to attempt that again.
Finally, last week, came my long-anticipated appointment with the neuromuscular specialist. Matt took the day off of work to drive me there. This lady doctor, Dr. B, was a night and day difference from Dr. K. She listened respectfully, took my symptoms seriously, and is testing me thoroughly. She never once asked me how much stress was in my life or why I was worried about my health. She ran a huge panel of blood tests and I will return on May 9th for further nerve and muscle tests. She is looking for signs of muscular dystrophies, myopathies, myasthenias, and metabolic abnormalities. I couldn't have been more thrilled with this doctor. I know that if modern medicine has the ability to detect my problem, this doctor will find it and help me.
Three days after my appointment Dr. B e-mailed me to say that my levels of Coenzyme Q10 were low, and that she wanted me to start on this supplement right away. If I understand it correctly, Coenzyme Q10 is necessary in nearly every cell of our bodies for the production of ATP, the energy source of cells. Without sufficient CoQ10 muscle cells may not be able to produce enough energy to respond properly. My level was well below the bottom of the reference range and only 31% of the average level found in healthy adults. The doctor believes this could be the reason for my muscle weakness and fatigue. We are still waiting on many more in-depth tests to come back which will tell us more about how my cells are producing energy and whether there is more to the picture than a simple deficiency.
We do not know why my CoQ10 levels are low. I eat a healthy, varied diet with few processed foods. My diet is rich in meat, eggs, and other foods high in CoQ10, but even if it wasn't, most of the CoQ10 in a body does not come from diet, the body is supposed to produce sufficient levels on its own. It's possible the problem could be a deeper genetic or mitochondrial disfunction that impairs my body's ability to produce CoQ10. Further testing is needed to sort that all out.
In the meantime, I have been taking a fairly high dose of CoQ10 (200mg, 2x/day) per Dr. B's instructions, and my levels will be tested again in a few months. I can't tell an ounce of difference in one week's time, but I guess it can take months to raise a body's levels of CoQ10, so I will have to be patient. I am happy to feel like we at least have something to go on now, some idea of what is wrong and how to help it.
On another note if I did have a genetic mutation that impaired production of CoQ10 (called Primary Coenzyme Q10 Deficiency, which sometimes manifests as muscle weakness in adults) this could have been passed on to my children. There are several case reports of children with Primary CoQ10 Deficiency who have presented with polycystic kidneys and neurological abnormalities. Since we still don't know what mutation plagues our children, this is an interesting possibility to me, especially since it could be treated with a simple supplement. I know I am getting ahead of myself here, we really don't know why my levels are low, but it makes me wonder.
All that to say, I think I have finally found real help, and am getting closer to some treatment that holds the promise of helping me feel human again, which is a very hopeful prospect. We shall see.
Thursday, April 3, 2014
Providence Knocking
I know I write a lot about updating my kitchen. Bear with me, though, because I'm writing about more than that. I'm sharing another glimpse I had today, a glimpse of something supernatural. Maybe you believe in cosmic coincidence. I do not.
I spent nearly four hours late this morning and early this afternoon on restaurant supply websites, scouring through posts of enormous colanders and mixing bowls, trying to decide if the 11 quart colander would really fit in my sink and if I would actually have anywhere to store it, wondering if I should get the 20 quart mixing bowl or the 30 quart. Yes, I really do use these huge pieces of equipment, because it cuts my cooking time down to a fraction if I can boil four pounds of pasta at once and have leftovers for two more meals. It saves immeasurable time to mix up the dry ingredients for 20 bread mixes or 6 pancake mixes all at one time. But it requires restaurant-sized equipment.
When I had finally picked the products I most needed, and found the website which offered them all at the lowest price with the lowest shipping, I hesitated. I had my enormous colander and mixing bowl all picked out, and had found some awesome deals on top-quality spoons and whisks at bulk pricing, but I glanced back at my kitchen, and my 12-year-old cookware set.
I spent nearly four hours late this morning and early this afternoon on restaurant supply websites, scouring through posts of enormous colanders and mixing bowls, trying to decide if the 11 quart colander would really fit in my sink and if I would actually have anywhere to store it, wondering if I should get the 20 quart mixing bowl or the 30 quart. Yes, I really do use these huge pieces of equipment, because it cuts my cooking time down to a fraction if I can boil four pounds of pasta at once and have leftovers for two more meals. It saves immeasurable time to mix up the dry ingredients for 20 bread mixes or 6 pancake mixes all at one time. But it requires restaurant-sized equipment.
When I had finally picked the products I most needed, and found the website which offered them all at the lowest price with the lowest shipping, I hesitated. I had my enormous colander and mixing bowl all picked out, and had found some awesome deals on top-quality spoons and whisks at bulk pricing, but I glanced back at my kitchen, and my 12-year-old cookware set.
It was an eight-piece basic set I had received at my wedding shower. It wasn't top quality, but it had served us well. Twelve-years later the pans were warped, discolored, and had lost most of their non-stick coating. I didn't use these smaller pans often, but when I needed a saucepan to whisk-up a white sauce I did prefer not to find black flecks in my sauce. When I did need to fry a single gluten-free cheese sandwich, I wished the skillet wouldn't fuse to the bread… and the same when I made pancakes… and when I needed to brown a pound of ground beef… And I would have liked to be able to wash the dishes without wondering if that was food to scrub off the skillet or a coating to leave on. There were just times it would be nice to have cookware that made cooking less burdensome.
I got out my tape measure and wrote down the sizes, and I looked at the prices for similar saucepans and skillets on this website. They were a good quality, and a good price, but ultimately, still too expensive. While I was thinking about it, I looked at a few other sites. I thought about just replacing one or two pieces. I wondered. I wavered. But I decided, in the end, that it just wasn't responsible to purchase them right now. My old set still cooked food. What I really needed were the large items, and so I submitted the order, deciding to be content with what I had, and knowing that if I really needed them at some point, God would provide.
About 5 minutes later there was a loud knock on my front door. I opened it to see the UPS man disappearing back into his truck. On my porch sat an enormous brown box. My first thought was, "What in the world did my husband order this time?" But the label bore my name and the words, "Gift Inside."
The box was heavy, it took me a minute to get it inside. I had to fend off the children, all gathering around me like hungry wolves, and tell them that this was…apparently…my gift, though I couldn't imagine what in the world for. When I finally found some scissors, cut the tape, and lifted out the box within a box, I shook my head in disbelief. This was the box in my living room:
I have spent the rest of today trying to believe that that just happened. The friends who bought and sent this gift to me are dear friends who must have noticed I needed these. That's no miracle. It was pretty apparent. But you have to believe that I had not seriously considered replacing my cookware until today. I had never measured their sizes, decided which ones I would like, looked up their prices on the internet, and concluded that I couldn't afford them…until today. I hadn't consciously decided to be content with my cookware and wait for God's provision in that area until today. My friends did not know that, but God did. He knew it when they had the idea to give me this generous gift, he knew it when they ordered it, and when that box went out on the UPS truck this morning. And He had the UPS man drop it on my porch five minutes after I came to that decision.
When Jesus walked this earth he told us, "…your father knows what you need before you ask him." (Matthew 6:8)
This isn't about imagining a God who drops little goodies in our laps every time we do something right, or a God who exists to dole out wealth to the people with the most "faith." I believe God has provided so clearly in this area of my life, because it is so clearly needed to bear up under the weight of the dietary challenges he's given us.
This is a story about God providing for the children he has given me, with all of their complex issues, and continuing to strengthen my faith along the way.
Friday, March 7, 2014
Wishing for Spring
In winter it's snowy and boring on the land
And the sky is a grey and cloudy band
Oh how I wish for spring
When trees bud and birds sing
I'm tired of when frost bites
And tired of cold snowball fights
I want spring with weather nice
That melts the old snow and ice
I want to see a snowman's carrot nose
Sitting in a small pile of melted snows
'Cause that's a sign that spring is coming
When flowers bloom and bees are humming
--by Naomi Eby (age 9)
And the sky is a grey and cloudy band
Oh how I wish for spring
When trees bud and birds sing
I'm tired of when frost bites
And tired of cold snowball fights
I want spring with weather nice
That melts the old snow and ice
I want to see a snowman's carrot nose
Sitting in a small pile of melted snows
'Cause that's a sign that spring is coming
When flowers bloom and bees are humming
--by Naomi Eby (age 9)
Wednesday, March 5, 2014
How to Update a Sink, I Think
Matt was actually the one who planted the crazy idea in my mind. He complained that it was too hard to wash our large cooking equipment in our sink. He said he wished we had a higher, arched faucet to fit the pots underneath. I said I wished we had Cono's industrial kitchen…but we didn't, and we'd just have to make due. I've been working over the past year and a half to upgrade as much of our cooking equipment as possible to match our family's huge cooking needs. We've gotten a huge crock-pot, food processor, food dehydrator, rice cooker, jumbo skillets, huge stock-pots, massive mixing bowls, and a professional sized kitchen-aid mixer. Last week I put up a shelf-and-hook system to help store some of my larger equipment in easier reach.
And while all of this has helped immensely, I've continued to come back to the idea of having a deeper kitchen sink, with a higher faucet to accommodate our larger-than-average dishwashing needs. Plus, our sink was just old and nasty looking, with white porcelain that collected annoying black marks every time a pot touched it, and creepy brown stuff that continually snuck out from under the edges, no matter how often I wiped them clean. Yesterday morning my sink looked at me and told me it was ready to go: it's work here was done.
I looked on the internet some to see what might be available for sinks and faucets, but figured I was dreaming--the 10" deep stainless steel double sink that I would really have liked to have was about $250, and then there was the little cost of playing a plumber to install a new sink and faucet. I knew that wouldn't happen. But I thought I'd just take some measurements and look around, just in case. A trip to Lowe's revealed a nice faucet on sale $89, which isn't too bad, but they didn't have the sinks I needed in stock and they would have been too expensive anyway. I noticed that their posted price for installing only a sink was over $200. So I sighed, and left.
On my way home I swung by the ReStore (a store of used hardware and houseware items, like a Goodwill for Home Depot) not expecting to find what I was looking for, but I figured it was worth a look. The lady in the store listened to my description of my ideal sink and helped me look through a large shelf of used sinks. I was floored when I saw my dream sink in front of me: a stainless steel, double sink with the left sink extra large and 10"deep. When the lady offered to sell it to me for $20, I suddenly became insanely crazy and bought a kitchen sink, deciding to install that thing myself if I had to. Back to Lowe's I went for that faucet, and some silicone caulk, and I was all ready to go.
All I had to do next was disconnect the old faucet and drains, rip the nasty sink out, slip the new one in place and hook everything up: a three hour project at most… I hoped. So Matt came home from work to find me tearing up the kitchen. He promptly left the room, because we both know by now that it's just easier that way. I'm not sure why, but he finds these whims of mine stressful.
And while all of this has helped immensely, I've continued to come back to the idea of having a deeper kitchen sink, with a higher faucet to accommodate our larger-than-average dishwashing needs. Plus, our sink was just old and nasty looking, with white porcelain that collected annoying black marks every time a pot touched it, and creepy brown stuff that continually snuck out from under the edges, no matter how often I wiped them clean. Yesterday morning my sink looked at me and told me it was ready to go: it's work here was done.
I looked on the internet some to see what might be available for sinks and faucets, but figured I was dreaming--the 10" deep stainless steel double sink that I would really have liked to have was about $250, and then there was the little cost of playing a plumber to install a new sink and faucet. I knew that wouldn't happen. But I thought I'd just take some measurements and look around, just in case. A trip to Lowe's revealed a nice faucet on sale $89, which isn't too bad, but they didn't have the sinks I needed in stock and they would have been too expensive anyway. I noticed that their posted price for installing only a sink was over $200. So I sighed, and left.
On my way home I swung by the ReStore (a store of used hardware and houseware items, like a Goodwill for Home Depot) not expecting to find what I was looking for, but I figured it was worth a look. The lady in the store listened to my description of my ideal sink and helped me look through a large shelf of used sinks. I was floored when I saw my dream sink in front of me: a stainless steel, double sink with the left sink extra large and 10"deep. When the lady offered to sell it to me for $20, I suddenly became insanely crazy and bought a kitchen sink, deciding to install that thing myself if I had to. Back to Lowe's I went for that faucet, and some silicone caulk, and I was all ready to go.
All I had to do next was disconnect the old faucet and drains, rip the nasty sink out, slip the new one in place and hook everything up: a three hour project at most… I hoped. So Matt came home from work to find me tearing up the kitchen. He promptly left the room, because we both know by now that it's just easier that way. I'm not sure why, but he finds these whims of mine stressful.
Alright then. So this is what it looks like under a kitchen sink… This stuff should come apart somehow… Might need some tools or something…
And so I got started at about 7:00pm yesterday. I didn't have any problems disconnecting the old faucet, save for the crumbs of nastiness flaking off the fittings and into my face as I lay under them with my pliers. The major problem with disconnecting the drains was the smell, and the four kids in my kitchen making gagging and vomiting noises. They got banished, mainly because they were making me want to vomit, which would have been wholly unhelpful. Then Matt stepped in for his one manly job: removing the old porcelain sink which was entirely too heavy for me to lift out of a hole. I tried, then I called Matt, and sure enough, it was much easier with Matt doing it.
At about 8:30 I gleefully plopped my new kitchen sink in place… sort of… but no, something was wrong. It was sitting half an inch off the counter. Some genius had decided that sinks should now be made with half-inch metal rods sticking down all the way around, about an inch inside the sink edge, probably to do something dumb, like hold the sink in place. Nobody needed those in the 1950's when my last sink was (effortlessly) dropped into a hole in the counter just big enough for the sink basins. So, there I was at 8:30pm with a new sink that measured the same as my old sink on the outside, but didn't fit in the hole in my counter.
I tried removing the obnoxious metal rods: then I remembered that they were supposed to hold a sink in place and they were made to stay put under pressure. I tried bending them out of the way: negative on that as well. So it came down to cutting the counter. This might not have been too hard if I had a handy little rotary saw of sorts, but I didn't. But I was in too deep to back out now, and at this point in a perplexing project I tend to pull out my most useful weapon: unyielding tenacity.
Yes, folks, that is how I removed a half-inch thick piece of plywood, one inch in on three sides of a sink hole with a box-cutter, a hammer, and a flat-head screwdriver (aka chisel and wedge). And it only took me three hours. No, no the kids didn't mind sleeping through the incessant pounding noises and culturally acceptable curses at 10:30pm.
Shortly after midnight the sink was sitting in it's proper place, beautifully caulked and all. I decided it was a good time to let the caulk dry. So I slept then--not because every muscle in my upper body was aching or because nine out of ten of my knuckles were bloody, just needed to let that caulk dry.
I woke up early, more out of fear of the kids getting into my plumbing tools and supplies all over the kitchen, than out of eagerness to greet my project. The drains didn't quite meet anymore, since the left sink drain was lower and farther back that the previous one.
Well shoot.
But actually, one trip to Ace Hardware and two hours later, I got that problem worked out relatively easily.
It even drained, except that I realized I had forgotten to seal the drain on the right that I had taken off our old sink to add to the new one. So then I had to take it apart, seal it, replace everything, and cellophane-wrap the sink so the glue could dry for 24 hours. At least the left sink was draining without a hitch. And here I was giddy with excitement again: I just needed to hook up the new faucet.
I should learn not to be giddy.
The new faucet hooked up perfectly smoothly: like warm butter on toast. I took a deep breath and turned on the water supply lines, and then I met a monster. The hot water supply line was something like a thousand years old. It had always been touchy, leaking if you turned the handle wrong, but I had always been able to find a sweet spot before where the water would run through the pipe, but not spray out all over under the sink. No such luck today. That valve was shot. It had heard that the sink and faucet had been relieved of duty after sixty-plus years and it demanded to retire as well. I had no choice but to turn the valve off, take some measurements, and head back to the hardware store for a new valve. It was a compression fitting, no blow-torches needed or anything crazy like that, so once I had the part in hand I was sure I'd be done in a few minutes.
I turned the water off to the house, and very carefully attempted to turn the old valve off the copper pipe. Then I broke out some major tools and attempted again, but it was stubborn. I was careful to support the copper pipe as I cranked on the fitting, but with the slightest movement the ancient copper pipe, which already had a slight kink in it where it came in through the floor, kinked worse and, to my horror, sprung a leak.
That was where my heart really sank. Crap. And now what? So I called my dad, of course, who told me it might be time to call a plumber. But that wasn't going to fly with me. I didn't want to pay for that; I didn't want to wait for that--remember the water is off; and I really didn't want Matt to think I'd screwed it up or he might not trust me in the future. I had to fix this myself. So my dad gave me a list of things I'd need to buy: soft copper pipe, a pipe-cutter, and a compression union. The hardware-store guys who were hanging out in the plumbing aisle waiting for people to laugh at, got their laugh at my story. Then they hooked me up with all the right stuff for under $15 and I began to feel hopeful again.
The pipe had burst right at the junction with the floor so I had to pull the old pipe out through the basement. This is one of those times where it's nice to have an unfinished basement because the pipes were easily accessible. I cut the old pipe, ran a new copper line, cut it to size, connected it to the valve under the sink, then connected it to the cooper line in the basement with a compression union. I breathed a huge, satisfied sigh and turned the water back on.
Instantly children began screaming in the kitchen. I was hoping they were screaming for joy along with me, but when I heard, "Mommy!! There's water spraying all over the kitchen!!!"that nice, satisfied feeling felt more like a rock in my stomach. I turned the water off while Hannah ran for a few bath towels. They hadn't been kidding. I hadn't tightend the compression nut on the hot water valve enough, because it blew right off and created an indoor sprinkler. Once everything was dry again, I laid into that nut with every muscle I had in my body. Then I checked the compression union in the basement and it was trickling too, so I gave it a little more muscle with my crescent wrench and pliers as well.
I braced myself as I turned the water back on again, but there were no screams. Painful silence followed as I listened, then watched for drips, but to my amazement: I had successfully completed plumbing the sink! I wiped all the pipes dry again and watched and watched for drips and leaks, but there were none. The cold water turned on in my new faucet, and the hot water too. It ran down a drain with no leaks. And then I realized, while angels sang, that I had put in a new kitchen sink a faucet completely by myself, for a total cost of about $150, and… about thirteen hours of labor. And it was worth it all.
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