Mitochondrial Disease – Our Journey of a Thousand Miles

 

This blog was originally published on June 21, 2012 on www.babysfirsttest.org ‘s Blog as part of serving on the 2012 Consumer Task Force.

Photo by: Enlightened Photography

Nearly three and a half years ago….Our family was anxiously awaiting the birth of our daughter. Big brother was all prepared to “help out” and Daddy was ready for a little girl to “steal” his heart, and I was ready for a very rough pregnancy to be over and to hold and snuggle my new little bundle of joy. If you had asked me then what newborn screening was, I couldn’t have told you much, besides that maybe it was a test done on an infant at the hospital, but for what, I did not know. However, I could tell you where my cord blood kit was and some of the cord blood research that was being done on children with illnesses using this “new” technology, because I had been educated quite a bit by my OB’s office during my pregnancy.  What I didn’t know then and what I do know now…and what I want EVERY parent expecting a child to know is that “new technology” is allowing screening to be done for 50+ disorders prior to your baby leaving the hospital… but it depends on WHERE you LIVE as to which ones your child will be tested for.

Two weeks after her birth, our daughter, Lady A ,as we like to call here around here, started crying, screaming, inconsolably, many hours a day. After trips and calls to the pediatrician over the next few weeks, we were told she just has “Colic”, or that maybe it is “reflux”. But after months of trying various medications, trying to introduce foods, hypoallergenic formulas and rice cereal, all while continuing to breastfeed, the crying continued…and got worse.

The disorders that are screened for with a few drops of blood taken from your baby’s heal for newborn screening are called metabolic disorders.

“Many of these are metabolic disorders (often called “inborn errors of metabolism”) that interfere with the body’s use of nutrients to maintain healthy tissues and produce energy. Other disorders that screening can detect include problems with hormones or the blood.  (from Kids Health)”

Many of these disorders if caught early enough can be treated with dietary changes and vitamin supplements. But if they are not caught early enough, can lead to intellectual disability, autism and even sudden death.

At a year old our daughter was labeled “failure to thrive” and underwent an endoscopy to determine why she was not tolerating food or breast milk. Still no answers, just multiple doctors telling us that she seemed fine, and that it was probably just an “allergy” that she would outgrow (although ALL allergy testing was negative) and telling us that we were worrying too much about her and that we needed to wean her to cow’s milk. The crying continued and when we gave her cow’s milk, she began banging her head on the floor and regressing developmentally. We were loosing our little girl before our eyes and we had no idea what was happening to her.

In Texas, where our daughter was born and at the time of her birth, 26 disorders were screened for as part of Newborn Screening plus a hearing test making the total 27. At the time the number of disorders that were recommended by the SACHDNC for screening exceeded 50, but because Texas had not implemented them or passed legislation requiring them, our daughter and other baby’s born in Texas were not screened for all of them. My son who was born just 4 years earlier was only screened for 7 disorders. “New Technology” (Mass Spectroscopy) was changing the landscape of devastating childhoodmetabolic disorder diagnosis.

At 18 months old, our daughter’s development was waxing and waning with each new food we fed her. A few she seemed to tolerate, others would cause loss of speech, others would cause violent tantrums and still others would cause congestion and swollen eyes. We continued journaling everything she ate. After returning from vacation that summer, our daughter began having neurological/behavioral reactions to household chemicals, including nail polish remover, hairspray, hand sanitizer, window cleaner, kitchen counter spray, etc. After spending hours on the internet, trying to figure out what was happening to our little girl, we inquired with our pediatrician if there could be any way this was METABOLIC. To us it seemed like certain substances (food, chemicals, medications, etc.) were toxic to her body. Our pediatrician referred us to a Neurologist and after doing some basic blood work, it was the first time we heard the words, “it could be…Mitochondrial Disease.”

Nearly 2 years from the first time those words were spoken to us, we STILL do not know if it IS or IS NOT Mitochondrial Disease. Tests continue to be ordered, blood continues to be collected and hypotheses continue to be made. Last month we REPEATED a newborn screen (for $35) on our daughter with the help of our pediatrician, that contained many more disorders than she was screened for at birth. Thankfully, it was negative. But had I known that a supplemental test was available when she was born, IT would have been the item I made sure was in my hospital bag! I would have had discussions about it prior to her birth with my OB/GYN and the pediatrician, and I would have called my insurance company to ask them to cover the costs of the tests that were recommended for all babies to be screened for, but which my baby would not be, due to the location of where she was born.

We have learned so much on this journey of a thousand miles, so much we wish we would have known in the beginning. It is this knowledge that led me to apply for the Baby’s First Test task force, in hopes of sparing one other parent from having to walk the same frightening, lonely, confusing and winding path. We have learned through our own research, what to feed our daughter to keep her body stable, and what chemicals and medications to avoid to keep her safe. She still has symptoms and is still very sensitive to her environment (food, chemicals, heat, fatigue, and any other stressors on her body), but we have learned to control the things we can and leave the rest up to prayer. She smiles a lot more than she cries now, which warms our heart. We will continue to walk this path beside her and look for answers for better health. This journey of a thousand miles truly began with one (baby) step.

 

About Baby(food)Steps

Taking Babyfoodsteps to a healthier, happier family!
This entry was posted in Advocacy, Baby's First Test, Medical, Mitochondrial Disease, Newborn Screening. Bookmark the permalink.

3 Responses to Mitochondrial Disease – Our Journey of a Thousand Miles

  1. David Stepien says:

    Kristi,

    Great Job. I love you so much for what you are doing for our loving granddaughter.

    Love Pop Pop

  2. Pingback: Five Hundred Fifty Five Feet | Taking Baby{food}Steps…

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