Wednesday, May 18, 2011

The Results Are In (Again) or What's Going On With Della Part 1 of 4


There have been a lot of things going on in Della's life and instead of trying to put it all in one post, I am going to do it in 4 to spare you the endless reading and me the obligation I feel to post it all in one night. So, here we go...

For some reason all of Della's annual visits her many specialists fall between the months of February and April. My calender looked like this for 2 solid months. Why do I do this to myself?
 
 Della says she hates all of the appointments and tests...

 We got the last of the results in last week and here is what we found out. Nothing. OK, well not nothing, but it feels like that. Let's start with Neurology. The waiting list to see someone in this field is months long, so when we moved here I took the first available appointment... 50 miles away. I recently requested to see a new Neurologist closer to home and it just so happens that we got in with Dr. Zeller who is the HEAD of the Blue Bird Circle Clinic for Pediatric Neurology at Texas Children's Hospital (TCH). Seriously, Divine Intervention. He was wonderful with Della and didn't mind when she pooped her diaper the second we got into the 10x10 foot exam room and then tried to hit him with his own reflex hammer because she was angry that he had hit her with it. It was highly embarrassing. Anyway, Dr. Zeller is confident that Della's condition is not the result from brain damage. We had always thought there was a chance that this was the case after her scary delivery and when she almost died of RSV. Not so. Dr. Zeller feels that she had a genetic condition that technology isn't able to "see" yet. He also thought it disturbing that she can do this...
 

 He agreed that her low muscle tone needed to be addressed with Physical Therapy (which we are already doing). Then he said "See you next year." 

The other major appointment was with the TCH Genetics Clinic which FYI, is the largest genetics clinic in the country. Our Geneticist, Dr. Graham pretty much repeated what he said last year and confirmed Dr. Zeller's theory, that Della's condition was genetic and that we don't have the technology to see it yet. BUT, there are some exciting developments in the field of genetics and they have recently been able to see an individual's ENTIRE genome sequence which is made up of 6 BILLION chemical units! Now as impressive as this might seem all of this information is moot without a computer program that can decipher and organize the information. Then Dr. G looked at me and said something awesome, "Don't think that Della will be an adult by the time you finally can put a name to what she has. Chances are high that you will know in 3 to 5 years." I was so stoked. I do realize that putting a name to what she has won't change her prognosis. A child with Down Syndrome still has Down Syndrome whether it is identified correctly or not. You can't change DNA. BUT- if there were ever another child born with the same genetic condition that Della has, they would be able to look at our daughter's life and have an idea of what they can expect and how they can best help their child. Who knows, maybe they will call it Della-itis. That was a terrible joke.

Besides those two appointments her renal (kidney) ultrasound came back good as did all her blood work (7 vials were taken on one draw! It was awful!), her urine test also came back normal, and the repeat of the Microarray didn't show anything. So that is good too I guess.

For anyone who hasn't been to a children's Neurology or Genetics Clinic, it can be a highly emotional experience. The waiting rooms are filled with children with all sorts of problems and seeing these little ones suffering is difficult for me. I'll admit that after these appointments, although I felt hopeful, I left feeling more than a little sorry for Della and for myself and as I guided her walker down the main hallway I was choking back some tears of self-pity. Then I had an experience I can never forget. A family with a little boy Della's size were headed the opposite direction. Before they could pass us, Della used her deft walker maneuvering skills to stop the little boy by stepping directly in front of him. As I tried to set the boy free from Della's trap, I saw that he had no face. Literally, no face. I won't get into too many details but most of his face was smooth with a small opening that was his mouth and one eye on the side of his head where his ear should have been. It was shocking. I apologized to the mother for my daughter's reckless driving and she politely answered me in Spanish. I left the hospital ashamed of myself and also with a renewed sense of gratitude for my family and for the countless blessings we have been given.

I leave you with this picture of Della hanging out in her laundry bin fort...

4 comments:

Jen said...

Thanks for the update. And for the perspective. I'm on Karly Fleischmann's FB page & whenever she posts, I think of you & sweet Della. Will look forward to the next few posts.

Beth said...

Thank you so much for this post. I know one day you will have answers. I agree with you when you said it might not change anything but to be able to compare notes with another child or to help future children and their parents would be amazing.

Thank you for all the sweet pictures too...what a little angel you have living with you.

mr.flygy said...
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mr.flygy said...
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