Strangely Normal

I don't have all that much to report, nothing exceptionally funny or cute or tragic in the last week and a half. It's sort of a strange feeling. But I thought someone out there might be wondering what's up with us, so here goes.

I've been busy. The first-trimester pregnancy nausea has finally almost disappeared, and the fatigue lets up for a break here and there. During those moments of renewed energy I've been attempting to tackle all the projects that have been put on hold for the last six weeks: cleaning, shopping, cooking real meals, and the monumental task of packing up the kids' winter clothes and unpacking their summer clothes. Next up on my list: unpacking my maternity clothes. I've put that one off for awhile since most of my maternity wardrobe was out-of-date when it was handed down to me over seven years ago. But my OB told me today that I was measuring 16 weeks along even though I'm only 12 (which I assured him was normal for me), so there's no fighting the elastic waist-band at this point.

Wardrobe changes have also been on Toby's mind lately. He has quite a developed sense of fashion. Along with his staple truck shoes, he has now added a Lightning McQueen baseball hat, which must be worn on his head, backwards, at all times. Often he accentuates his outfit with a pair of red mittens which his great-grandmother knitted him for Christmas. "Got my HAT, and my TRUCK SHOES, and my MITTENS!" he will announce proudly. Upon waking in the morning, if any of these items has gone missing overnight, he will frantically wail, "Need my HAT! Where's my HAT go?!" until I stumble out of bed and return the missing item.

Last Thursday I took Naomi to see the rheumatologist which we'd waited two months to see, and it was really an utter disappointment. He didn't see signs of joint damage and she wasn't in any pain at the moment, in fact she hadn't had much joint pain in several weeks, so about the best he could do was to tell me to call the next time she was very stiff and sore to see if they could run any blood work at that time. However, this seeming brick-wall of unhelpfulness set me re-thinking Naomi's joint pain. If it isn't arthritis, what the heck is it? Because I know it is real.

Coinciding with this re-thinking was Naomi's seventh birthday party the very next day, and once again she had horrible joint pain that evening. That makes four out of four birthday parties in the last three months that have coincided with severe joint pain for Naomi. This coincidence was even more striking since she hadn't had any joint pain for several weeks. So I thought through the birthday party diet once more: gf cake, soy ice cream, Sprite. I knew it wasn't the Sprite, since she'd had that a few other times recently with no pain, and this party Naomi didn't like the new flavor of soy ice cream and ate only a taste of it. Then it struck me: the icing on the cake is always loaded with dyes. I had begun to notice a connection between Naomi eating dyes and bizarre behaviors, and so I had recently cut back on them, but this was the first time that I made the connection between dyes and her joint pain and headaches.

Thinking back, I realized that Naomi's most horrible joint-pain episode happened on March 7th, the day after Hannah's 5th birthday party. I had made a mistake on that cake too. Instead of buying frosting in a writable tube, I had accidentally purchased gel dyes in identical tubes. When I put the flowers on Hannah's cake I wondered why the "neon pink" tube looked more black on the cake, until Naomi bit into a black flower and her entire mouth turned neon pink...and fingers, and face, and everything else she touched. She must have consumed an enormous amount of red food dye that evening, and I am nearly convinced that she suffered for days from that mistake. Around that time, in an attempt to encourage Naomi to drink more rice milk I had conceded to adding Strawberry Nesquick to one glass each afternoon. This would easily explain why her joint pain and headaches seemed to come nearly every evening. I had cut out the Strawberry Nesquick a few weeks ago, realizing it was affecting behavior in the evening, and that was the same time the joint pain and headaches seemed to ease.

Naomi has consumed zero food dyes in the last week and she has been pain free. The evidence, in my mind, is overwhelming, but I know that I can be eternally optimistic, and I have been wrong multiple times before. Time shall tell, but I can hope.

Dear Little Emma had a second ear-tube surgery this past Monday morning, and her uncanny calmness that morning has begun to worry me. She sat listlessly in the bed, seeming not to notice the nurses taking her blood pressure or temperature. She stared blankly at the cartoons on TV while we waited, but didn't really watch them. When the nurse told me she was about to give Emma some Versed to help her stay calm when they took her from me, I assured the nurse that wouldn't be necessary. Later, seeing the blank expression on her face during the pre-op consult, the doctor thought she had had her Versed already. "Nope," I said cheerily, "she's just always a laid-back kid." But I was beginning to wonder why she seemed to be permanently drugged.

Emma didn't make a peep as they wheeled her away from me, nor as she woke in the recovery room. All around me I could hear children screaming, but Emma sat sweetly and quietly in her bed as the nurse wheeled her into the room to see me. "She has just been a star!" the nurse raved, "If all our kids were this good my job would be a whole lot easier!"

"Yeah, she's my sweetheart," I agreed. Emma did smile at me then and reach for a hug, a small sign of life. Her minor lingering cough from a week-old cold suddenly worsened after anesthesia and her oxygen dropped and hung around 90 percent for a good hour. An albuterol nebulizer treatment had no effect. Finally, Emma announced that she was hungry, and the nurse tentatively gave her a chocolate muffin. "I know her oxygen's going to drop even more when she eats," the nurse warned. But food seemed to have the exact opposite effect. Emma immediately came to life, and devoured the muffin. She must have started breathing deeper too, because the oxygen level finally climbed to around 95 percent, and we were discharged. She has always liked her food. As we were leaving I asked her if her ears felt better, and she thought a moment, then smiled, "Yeah."

And what can I say for Hannah? She's a ham of a five year old, and still supplies a good portion of my daily laughs. Maybe now that things have settled a little I can take the time to write down more Hannah-isms.

Even as I heard baby number 5's heart beat today, I wonder what he or she will bring to this family. Each of my children are so unique, I always have a hard time imagining what another one will be like. It's pointless, because I would always be wrong anyway. Who could have imagined Naomi, Hannah, Emma, and Toby? Only God.

Toby's Quest for the First Cause

Somewhere around age three Naomi and Hannah each began occasionally asking the question, "Why?" It was sporadic, and appropriate for certain circumstances, and a thorough answer would usually satisfy their thirst to know. To my recollection the question, "Why?" has never come out of Emma's mouth.

Tomorrow Toby will turn two years, three months old, and his new favorite word is already, "Why?" The first time I heard him ask it, about a week ago, I couldn't believe he really knew what he was asking, but he did. And now my days are filled trying to give him short, concise answers or long, complicated answers, but nothing satisfies this boy's thirst for knowledge.

"No, Toby," I'll say as he scrambles into the minivan's driver's seat for the zillionth time and clutches the steering wheel with all his might, "you sit back here, in Toby's car seat."

He will look up at me with big, brown, wondering eyes, and ask in the sweetest, most honest voice, "Why? Why, Mommy?"

"Because Mommy has to drive the van, you're not old enough yet."

"Why? Why, Mommy, Why?"

It doesn't matter what I answer, he will continue asking and asking. He used to go to bed so peacefully, but now when I announce that it's bedtime he answers, "Why, Mommy?"

"Because it's late at night, and you're getting sleepy."

"Why, Mommy?"

"Because the sun is going down."

"Why?"

"Because the earth is rotating."

"Why, why, Mommy, why?"

Until I eventually am backed into either, "Because I said so," or "Because that's the way God made it, " or simply, "enough, Toby, you can't possibly understand right now, just go to sleep."

Sometimes I crawl into bed and realize my mind can do the same thing..."Why? Why, God, does my family seem more like a science experiment than household? Why, God, did I have to tell Naomi I couldn't stop her pain? Why, does everything have to be so hard for Emma? Why, God, Why?" And maybe God sent me Toby, just so I could hear God answer me through my own answers to my child, "Enough, you can't possibly understand right now, just go to sleep."

The Hazy Unknown

Yesterday, the Ear Nose Throat specialist confirmed that Emma's eardrums were still completely flat (unable to vibrate with sound because of the fluid filling her inner ears), and it's been three weeks since the last test. He said he was really surprised that she could hear as well as she did on the hearing test, and that if an adult woke up with their ears feeling like Emma's they'd be calling his office and begging him to help them. Emma puts up with so much so silently, I would have had no clue she had trouble hearing except that she's been putting her fingers in and out of her ears. Mr. ENT agreed that putting a second set of ear tubes into Emma's ears ASAP was a "no-brainer" especially with her speech issues.

This morning the neurologist was able to obtain a copy of Emma's brain MRI, and I realized that the nurse who told me the results over the phone two months ago misinterpreted the results. The nurse had said they'd seen "delayed myelination" which is common in developmentally delayed children, but the MRI report read, "moderate loss of white matter volume," which, according to the neurologist, is completely different than delayed myelination. I couldn't press for lots of details, but she said Emma's loss of white matter volume along with the abnormally slow EEG basically means that Emma has mild "cerebral dysfunction." When I pressed her as to what that meant she said, "brain damage,"--not exactly the two words any parent wants to hear, maybe we should've stuck with "cerebral dysfunction."


Basically, the two big questions we are seeking to answer now are, "Did the brain damage occur in the past as a one time event or is it a degenerative disorder that is worsening?" and, "What caused or is causing the brain damage?" It is possible that the brain formed incorrectly due to a genetic defect. It is possible that her brain suffered damage from mild oxygen deprivation in the womb or during labor. Or, it is possible that there is a genetic defect causing a metabolic disorder (the way the body breaks down and uses food) which may cause a deficit or build up of certain chemicals that interfere with the way the brain functions. One group of genetic mutations causing metabolic disorders that lead to the progressive loss of white matter are called leukodystrophies, something the neurologist mentioned they would check for. Here is an excerpt from the National Institutes of Health website on leukodystrophies:

“The leukodystrophies are rare diseases that affect the cells of the brain. Specifically, the diseases affect the myelin sheath, the material that surrounds and protects nerve cells. Damage to this sheath slows down or blocks messages between the brain and the rest of the body. This leads to problems with

• Movement
• Speaking
• Vision
• Hearing
• Mental and physical development

Most of the leukodystrophies are genetic. They usually appear during infancy or childhood. They can be hard to detect early because children seem healthy at first. However, symptoms gradually get worse over time. There are no cures for any of the leukodystrophies. Medicines, speech therapy and physical therapy might help with symptoms. Researchers are testing bone marrow transplantation as a treatment for some of the leukodystrophies.”

More blood was drawn today to check for signs of a metabolic disorder, and we will repeat the brain MRI and EEG in September to see if the brain is stable or worsening. In the meantime Emma needs to see a speech pathologist to see if we can get her some more intensive speech therapy and a physical therapist to evaluate if she would benefit from physical therapy.


What all this means for little Emma is a frustrating shade of grey right now, something Crayola would probably name "hazy unknown." It's possible that her eyesight has now been corrected, her ear tubes will help her hear clearly again, and her brain will work hard to compensate, with therapy, for the damage it has been assaulted with. It's possible that her speech and motor skills will improve with hard work and time, that a future kidney transplant is the worst of what she's facing, and that her future is quite bright. It's also possible that she is facing a degenerative disorder that is causing her eyesight and brain function to deteriorate, and that there will be little we can do, but watch. But I've learned by now that venturing into the hazy unknown only causes me more injury in the end, it's best to sit where we are for now and wait for the fog to lift.


Right now Emma is sitting with her sisters, working her little heart out to trace the lines in her preschool workbook while she hums a happy, though unintelligible song. Right now is not a bad place to be, so that's where we'll stay.


I heard this song on the radio on the way to Emma's neurologist appointment, and quietly shed a couple tears while Toby gleefully announced every cow and horse he saw along the road. Maybe it will bless your heart too.

Leaky Valves and Slow Waves, A May Health Update

The doctor's visits are picking up again: two last week, four this week, and at least two per week for the foreseeable future now. Our pediatrician thought Naomi's heart murmur sounded louder last month, and since it had been almost three years since her last echo cardiogram (ultrasound of the heart) she ordered another one. Emma also has developed a milder heart murmur so she got an echo scheduled too, and an EEG (brain wave test) since her head MRI had showed some abnormal myelination. Today we went in to discuss these results.

Naomi's echo cardiogram showed some minor leakage in two of the four valves of the heart. The radiologist called it "mild mitrial insufficiency which does not appear to be clinically significant at this time" and "trivial tricuspid insufficiency." Our pediatrician, however, knowing Naomi's full clinical picture better, was not so glib. These valves were not leaking three years ago, and such things can result from autoimmune diseases (like Celiac, and rheumatoid arthritis) and progress to much more severe problems. We'll be going to see a cardiologist now, but this is also more for me to discuss when we finally go to see the rheumatologist next week.

Emma's echo cardiogram was, thankfully, normal. Her EEG however, was definitely abnormal. The impression was, "Abnormal EEG obtained in the awake state. The findings suggest very mild diffuse cerebral dysfunction. Various metabolic or congenital factors may exist. There is no obvious epileptiform activity." Which means that, while there was no evidence of seizures, there was a general slowing of all brainwaves. This gives us more evidence (correlating with the brain MRI that showed decreased myelination) that her brain cannot effectively transmit the electrical signals it needs to in order to think clearly, speak clearly, or move in a coordinated manor. In other words, everything comes more slowly and with much more effort for her. There are many possible causes and diagnoses out there. This will be more to discuss when we finally go to see the neurologist this Thursday.

Both Naomi and Emma had more blood drawn today. Naomi was thrilled that it was only two tubes of blood, and Emma sat peacefully as they drew 17 tubes from her. Hannah cried for both of them, and Toby ate Kix.

Tomorrow Naomi goes to the ophthalmologist to recheck on the eye crossing (which is worsening again), to look at her optic nerve to make sure it isn't swelling from the cyst in the brain, and to order new glasses since hers mysteriously dropped out of existence several months ago. Wednesday Emma sees the ENT to see if she needs a second set of ear tubes, since only weeks after the first set fell out her ears are again full of fluid, and she is again flunking the hearing tests. Thursday Emma goes to see the neurologist we've been waiting over two months to see, and I hope she can shed some light on the inner workings of Emma's special mind.

Next week I have to see a maternal-fetal specialist since my OB got scared by my previous pregnancy history, and he doesn't believe me that there isn't anything they can do to diagnose or treat the next baby at this point anyway. Then, next Thursday I take Naomi to see the rheumatologist who will hopefully help us understand just why she has chronic joint pain and heart valve deterioration and what in the world we can do to slow this autoimmune process.

Tonight, I am tired, but it helps to vent it out here. One day at a time. On a positive note, I made sure to give Emma extra hugs and kisses today, and she just soaked them up. I understand her need for constant love, affection, and affirmation more now than ever, and she rewards me with the most awesome smiles.

February Buds, Magnolia May

Shortly after we moved into this house I was intrigued by the ice-coated buds on the tree outside my kitchen window. I wondered what kind of tree would put out such large buds in February and how they could survive that coating of ice for so long.

 I thought of the enormous flowers of the magnolia tree and wondered if the buds were so large that they had to start growing in the middle of the winter.

 Just over a week ago I saw that my theory was correct. The now giant buds began cracking open their furry winter coats and emerging into the late April showers.

 Then came May, and some of the most beautiful views I've ever seen while rinsing dirty dishes.

Maybe our growth in the wintry times of life make our blossoms that much more beautiful come spring.

Emma Sees

Two days after they were ordered, Emma's glasses were ready for pick-up. Emma was all smiles as the lady put her new purple glasses on her face. It was priceless to see not only how cute Emma was with her new goggles, but how wide-eyed she became when the world became clear for the first time. She stood still and just looked and looked around the room. She walked slowly and quietly to the door and then to our van. I stooped down beside her outside and asked her what she saw.

She broke out in a huge grin, "I gah gee gee, ah gar! (I can see trees and cars!" she beamed. Just then a horse and buggy came down the street. "Ah ger a hoe ah buggy! (And there's a horse and buggy!)" she yelled, as if she'd never really seen one before.

"When we get home you can show your glasses to Daddy, and Naomi, and Hannah," I praised her.

"Ah I wah goo gee my ew gah-eh ah! (And I want to keep my new glasses on!)" she added.

"Yes, Emma," I assured her, "You can wear your new glasses all the time." She couldn't have been happier.

Through Emma's Eyes

Emma's always had her share of special challenges. Her low responsiveness continually worried the doctors before she was born. Her delivery was an emergency induction when she was clearly in distress. She was born at one of the busiest times of our lives, and lived her first 20 months in the background of boarding school life. She struggled with fluid in her ears and nearly constant ear infections from about 14-20 months old until she finally got the ear tubes she needed. When she turned two and still wouldn't say a word, we called in the early intervention speech therapists who didn't seem to have a category for a smart child who understood everything that was said to her but couldn't seem to get a word to come out of her mouth.

Her third year was characterized largely by frustration and weepiness. Life just seemed to be such a challenge for her. She would "hum" what her eyes told me were long complex sentences in her mind, and then she would either roll her eyes at us or break down in tears when we couldn't understand her. Thankfully, by the time she turned three last September she had learned a little more of our language and we had learned a little more of hers. We could understand each other much of the time and Emma began to blossom. She is bright-eyed and happy, singing her little songs and developing her own personality now, but some things still puzzle me.

Why isn't she speaking any more clearly as the months go by? She is no longer labeled as having a speech delay, but an impediment, probably speech apraxia, where the brain doesn't communicate with the speech muscles correctly. But there are other puzzling behaviors as well.

The first time we visited our new house Naomi and Hannah ran up and down the stairs, but Emma froze at the top and began screaming as if the world had dropped out from under her. She was trembling all over by the time I rescued her and showed her how to place her hand on the wall and walk down. She had been up and down the flight of stairs at our previous house ten times a day, so why the fear here? Why is she so clumsy? Why does she sometimes walk right into something as if she doesn't see it? Why would she rather collapse on the floor sobbing for her sippy cup than stand up and see that it's sitting in plain sight on the table?

With my concerns mounting, I asked my pediatrician for a referral to an ophthalmologist to check Emma's eyes back in January. She questioned the need and looked at me like I was hopelessly paranoid, but agreed to refer Emma. We left the office satisfied, but she never sent the referral. When I brought the concern up again in April, Emma was finally referred to an ophthalmologist.

Tuesday afternoon Emma was patient and cooperative as machines measured the curve of her eyes. She tried to name the cake, horse, duck, and hand pictures that grew ever smaller. She let them put in the drops to dilate her eyes without a peep, and she tried, unsuccessfully, to identify the 3D creatures while wearing goofy glasses on her face. And, once again, I am glad I pushed for the referral.

It turns out that Emma's left eye is extremely nearsighted with a large amount of astigmatism too. She sees around 20/200 in that eye, which is being able to see the huge E at the top of an eye chart and nothing below that. Her right eye is getting her by with decent vision, somewhere between 20/40 and 20/60, enough to barely pass a driver's license test. The ophthalmologist was upbeat, saying he was glad that we caught this early, and that often, with correction, the vision in the bad eye will improve. I guess if we help her eyes to see more clearly those pathways in the brain may become stronger since she is still young. She has some adorable purple glasses on order, due in next week.


I feel a familiar mix of vindication (I told you she had trouble seeing!), relief (maybe life will get easier for this poor child now), and regret. So that's why she spent all those cumulative hours screaming that she couldn't find her sippy cup--maybe she really couldn't. I have no doubt that she screamed at the top of the stairs because, with a combination of poor vision and almost no depth perception, the world really had dropped out from under her. The doctor says we caught it early, but, just like the Celiac disease with Naomi and Hannah, I wish I had caught it sooner.

Somewhere in the back of my mind lurks the fear that her eyesight is actually on its way downhill fast. One 2009 paper that was published from the ARPKD/CHF study that Naomi and Emma are enrolled in showed a few of the several hundred kids in the study also showed features of a more involved neurological syndrome, and a subset of kids with that syndrome experience retinal degeneration at about Emma's age. The ophthalmologist couldn't rule that out, but didn't want to jump to that conclusion. He will check Emma's eyes again in July and will expect to see improvement with the glasses. If we do not see improvement at that time, we'll be referred on again to the children's hospital for more in-depth evaluation.

But that is July, and this is May. Next week Emma will be sporting some cute purple eyeglasses, and, hopefully, fewer tears of frustration.