Sunday, May 23, 2010

Relieved To Be Disappointed and Disappointed To Be Relieved

In April we were able to meet with a doctor that specializes in inherited diseases and birth defects at the Texas Children's Hospital/Baylor School of Medicine Genetics Clinic. There were some rare genetic disorders that he wanted to test for, but even though Della had a few of the obvious symptoms included in each of these specific syndromes, she seemed to be missing one or two of the hallmark traits that really define those who have each syndrome. Given her past abnormal metabolic test results, the doctor also wanted to test Della for a small obscure group of disorders involving the body's ability (or inability) to correctly metabolize creatine.

A Lesson In Metabolic Function Involving Creatine For The Average Joe
(or people like me)
When most of us think of creatine, we think of the supplements that athletes and bodybuilders use to increase muscle mass. Our bodies naturally create creatine through the food we eat, namely meat. Creatine is essential in building muscle and if a person's body is unable to produce/metabolize/use creatine then they would have low muscle tone (aka hypotonia). Della has long struggled with hypotonia, especially in her "trunk" or midsection as well as in her legs, which is the primary reason she doesn’t walk. But, creatine is also essential in brain function, specifically in the area of speech, and without it a person would be left pretty much without any expressive language skills and low receptive language ability. Della's hypotonia and being non verbal are what led the doctor to test for a disorder involving the metabolism of creatine.

Back to the doctor's appointment...I started to get really excited when the doctor continued to explain that through strict diet (no meat or dairy) combined with a creatine supplement, children with this metabolic disorder show considerable improvement in mobility, fine and gross motor skills, coordination, and speech. He was quick to point out that there was no cure for this particular disorder, but there was a possibility, and a good one at that, for improvement.

We have been doing this for 3 and a half years; this seemingly never ending cycle of diagnostic tests and guesses accompanied by the hope we are incapable of suppressing and the dread we are incapable of escaping. It can be emotionally exhausting and we have gotten pretty good at pretending we aren't thinking about it, especially during the impossibly slow passage of time between tests and their results. These most recent tests were particularly agonizing to wait for because the results took almost 3 weeks (the amount of time it takes to "grow" the chromosomes) and because for the first time, there might be something we could actually do to improve Della's condition. We had always thought that there was nothing we could specifically do to change her situation. It is similar to a child who has Down Syndrome. Yes, there are therapies that can help that child's development to progress, but there is no drug or diet that can actually change that child's prognosis. This is what we have believed to be true about Della until this point.

It is really really difficult to not get your hopes up too much. We tried, but the more we read on the Internet, the more our hope grew. This specific metabolic disorder involving creatine is very new, so new in fact, that hardly any information is written in layman's terms (think Wikipedia). So I have scrupulously searched through online medical journals and studies. It literally reads like Greek: Chorea (χορεία), hemiballism, athetosis, high amplitude theta-delta background, Progr neurol & psychiatric deterioration. (Creatine Deficiency Syndromes Clinical Presentation, Sylvia Stöckler-Ipsiroglu, Div Biochemical Diseases, BCCH, Vancouver). But in that same article I came across this short list of symptoms: eye rolling, holding breath, low tone, stiffness. This is my daughter to a T.

So the results are in and Della does not have a metabolic disorder involving creatine. This is also where the title of this post plays out. We are disappointed to still be left with no diagnosis but it was even worse finding out that no matter what we do, we can't improve her muscle strength or speed up her learning to communicate. No one wants their child to have a debilitating disease or disorder, but Chad and I would be kidding ourselves if we thought Della had nothing wrong with her.

I have left messages with the geneticist, the neurologist, and her pediatrician asking them all the same question, "Now what?" There is a good chance that the collective answer will be "We don't know." Chad and I will have to learn to accept that this may be the only answer that we have for years and for maybe the duration of her life. It just leaves so many things unknown. How far will she progress? How can we best help her reach her highest potential? How long will she live? Of course we have prayed and fasted for answers and we feel confident that we are moving in the right direction as she goes to school and receives speech and physical therapy. This will have to be enough for now. In the meantime, we enjoy Della's joyful demeanor, her constant smile, and her loving manner. I am not sure if we could ever get enough of those things. There really is a lot of happiness in our lives and whatever the outcome is, we will be OK. It is the not knowing that is the hardest part.


Allison said...

I don't even know what to say. We love you and we love Della.

Lisa said...

Thank you for sharing this, Caitlin. Della is beautiful, and the great love in your family is so evident. We love you too!

Anastacia said...

Thank you for sharing with us--everything was so beautifully expressed. We will keep on praying, and we are so thankful for all the love Della has in her family! And tell Archer that Jack says hi!

Anonymous said...

Speechless. You and Chad have handled yourselves with such grace through all of this. The fact that you keep fighting shows just how much you love your child.

joy said...

I'm so sorry to hear it wasn't better news. We will keep your family in our prayers. You are so amazing Caitlin!

Beth said...

Thank you for this post...with everything we have gone through with my sister and her sweet baby, I am always reminded of you with Della.

We have the answers to what is wrong with Davy but they are unable to give diagnoses. It is the not knowing that makes it so hard...but one smile from our sweet little Angel and we have the faith that whatever her future is, it will be worth it. I pray that one day they will find the answers for Della.