We were at a fundraiser dinner for the kids' school and Archer ran off to the playground. We saw him 10 minutes later being crying and being carried by some poor sap who happened to be a bystander to my son's accident. When asked what happened, Archer explained that a kid had dared him to do a trick on the monkey bars and he "messed up", fell, and hurt his foot. He was crying pretty hard, but we have a rather dramatic son so we weren't sure if he was seriously hurt. We became convinced around 10 PM when his constant complaints were frequently interrupted by crying. I took him to the ER. All sorts of terrible thoughts entered my head as I imagined a summer with Archer's leg in a plaster cast. Archer asked me questions like "Can I swim with a cast on? What about Slip-N-Slide? How about water guns?" You get the idea. Thankfully, the x-ray showed that no broken bones but he did have some bad bruising which was apparent just by looking at his swollen foot. We were sent home at 1AM with orders to "take it easy" and this awesome boot. Archer put it on and exclaimed "Mom! I am pretty sure no one else in Kindergarten has one of these!"
I spent the next day at home with him. Archer insisted that I needed to carry him everywhere. If I refused he would drag his back half around as he crawled on the floor crying. Nice.
Della has been going to school for 5 months now. She loves it. Especially when Mrs. Pouncy does her hair (see above picture). Sadly, she has no idea that it is about to end 6 days from now for summer. She is going to be very upset.
It's been a very busy 5 months for our daughter and she has made so much progress. As to why, my guess is that seeing other children talking, walking, eating, etc. has motivated her to do the same. You know what they say about peer pressure. Here is a short list of her accomplishments since starting school:
Using a spoon (sometimes, when she feels like it, which is not often, but I'm counting it anyway).
Imitating others- like rolling her hands when singing "Wheels On the Bus".
Signing the word "more" appropriately.
Using the POTTY! Yes, that's right. She is using the potty. When I saw that her teacher had written it as one of Della's goals, I laughed. Who's laughing now? I'll admit that it isn't perfect. She doesn't tell us when she needs to go. We aren't sure if she isn't able to learn/retain the sign or if she simply hasn't recognized the urge. But- every afternoon, I set her on the potty and she does her #2. I know this is gross, but look at it from our point of view. We were convinced that she would wear diapers forever.
Trying to "talk". She still doesn't have any consistent babbling but she will look you in the eyes and her tone takes on a conversation like sound.
She can point out our eyes, nose, mouth, ear, and hair correctly. Usually.
She is pointing with her finger. Sometimes.
Following one-step commands like "Put the ball into the bucket."
That's all I can think of for now. Meanwhile, enjoy this video of Della's newly acquired spoon skills. When I saw that this would be a rare moment of cooperation, I ran and got the camera. Here's what ensued...
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 DeficiencySyndromes 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.
Our backyard has gone from a grass/weed patch to a garden/annoying neighborhood kid hangout in one year. Chad finished up the entrance pergola...
Current status of the playhouse/fort/man school (neighbor kid death trap)...
So in the 3 crops of tomatoes that we have planted since we moved here we have eaten approximately NONE tomatoes. This crop looks very promising. Chad and I have been outside everyday weeding, mulching, fertilizing, singing to, and generally loving on these plants. I don't know who is watching them more closely, us or the mockingbirds who will obliterate any tomato that shows the slightest hint of pink.
PLEASE! PLEASE! PLEASE! Let us eat some tomatoes!!!
I finally understand why there are many scriptural references to "pray over your crops."