Sunday, January 24, 2010

Wheelchairs, Pig Tails, and Microarray: A Lesson In Gratitude

Della has been going to school for 2 weeks now and it's going really well. She has to use a wheelchair to get on and off the bus since the teachers aren't supposed to be lifting her. I hate it...
Apparently Della only wears her dead serious face when riding in her chair. She has figured out how to wheel herself in a circle, it is really funny to watch...
I can't tell you for sure why I hate it other than it is like a huge flashing sign to me shouting "Hey you! Your daughter is disabled!" I want to say "Yeah, I know, do you have to be so loud?" It's not like this is new information to me. We have known that something wasn't right since Della was 6 months old and although there was a time that I stubbornly held on to a small shred of hope that she would one day "grow out of it", I have since let that go. I think the chair upsets me because up until now, she has been like a giant baby to us. The past few months she has gotten heavier, a lot heavier. I have also noticed that dresses in her size don't come with matching diaper covers and I think "Oh yeah, most 3 year olds are potty trained." I am sure that our lives will be full of small reminders that Della isn't like other children.

She is still super cute though and we enjoy the love and happiness she brings into our family...
Della has taught us so much. She reminds us that joy can be found in the most simple things. Like the fan...

Unless it is on too high...



I was worried that maybe the teachers at school didn't like her. But then she came home sporting these...

I realized that they don't just like her, they love her! After all, you don't bring your own hairbands from home to put in pig tails for just anyone...

We don't know what Della's future will be like, mainly because we don't have a diagnosis for her. The most likely answer is that she has a genetic syndrome. Up until recently, doctors could only test for a few specific syndromes at a time. Della has been tested for and found not to have Fragile-X, Rett, and Angelman's syndromes to name a few. Genetic testing is essentially akin to a shot in the dark. Physical examinations lead to guesses and the doctor then tests for those guesses. If nothing shows up, then they move onto next set of guesses. These tests are very (very, very, very) expensive. It took us the better part of a year to pay off the last one. Della's geneticist pretty much shrugged her shoulders and told us that Della could have a genetic syndrome unique to just her and that we might not ever have the technology to see it.

As with most fields of science, advances can change things very quickly. A friend who has been dealing with some serious issues in her own family, somehow thought of Della and told us about a new genetic test called microarray. Here is what Cincinnati Children's Hospital says about micriarray, "Patients with chromosome imbalances may not have classic presentations, so with other technologies it may be difficult to decide which specific test to do. Now all of these regions can be examined with one test." So this looks like it will be our next step with Della. It is scary and exciting at the same time. I am thankful for our friend who took the time to tell us about this new test despite the difficulties that have come upon their family. Truly this information is a blessing.

Meanwhile, I read this article in "Wired" magazine about a father whose daughter has an unknown genetic syndrome. He is an MD and has made an obsession out of meticulously searching 20,000 base pairs of his daughter's DNA that he has had analyzed, printed out, and put into 3-ring binders. He started a website called My Daughter's DNA for other parents whose children have an undiagnosed but presumed genetic syndrome. Here is an excerpt from the article:
"To encourage this kind of collaboration, Rienhof created MyDaughtersDNA.org. The Web site, launched in October 2007, invites parents to post the clinical histories of their undiagnosed children. The hope is that geneticists will also frequent the site, to help identify rare disorders and use the case studies to further their own research. One of the first people to post to the site was a Bulgarian man named Stefan Petkov, who wrote about his 12-year-old daughter. The girl had weak limbs and speech problems; she also lacked the ability to shed tears. Doctors in Bulgaria were stumped, and DNA tests done in both Belgian and Bulgarian laboratories didn’t point to any known genetic conditions. Gary Gottesman, a geneticist at Saint Louis University School of Medicine in Missouri, came across Petkov’s saga after reading about MyDaughtersDNA.org in the journal Nature. The girl’s inability to cry made him think of a disorder known as Triple A syndrome. He suggested that Petkov have his daughter checked for the disease. Less than a month later, in March 2008, Petkov wrote again. His daughter had finally been diagnosed with two of the pillars of Triple A syndrome, the most notable being Addison’s disease, which limits production of the hormone cortisol. Shortly thereafter, Petkov’s daughter began receiving medicine to replace the hormone, which should help build her muscle strength."

Obviously this is our "Holy Grail" and maybe we will get the answers we have been looking for. I encourage you to read the article written about this father, it is excellent.

7 comments:

Kimberly Bluestocking said...

Thank you for sharing that article. It really touched me.

[hug for you]
[hug for Della]

P.S. The post about Archer and tooth fairy cracked me up.

Amy said...

What a hero you are becoming to your daughter and to other mothers. You may not feel like a super hero- but think of a new mother and how much she could learn from you if something like this were to happen to her. I am very proud of you and your continued fight.

Amy said...

You are a hero to me too!

Allison said...

The whole family likes looking at your pictures on your blog. Jack and Tristan love looking at the kids. Thanks for continuing to keep us updated and sharing your feelings.

Kellyanne said...

I would hate the wheelchair too! But at least recognizing your daughters needs first and doing what it takes to help her and have her needs met even though you hate how it makes you feel sometimes make you a great mom! So keep it up! Ps. im glad you commented on my new photo blog i was thinking,"what am I thinking even attempting this, no one will look at it! lol" if im ever in texas Ill take some of your fam photos!

Beth said...

I love your posts and your updates. Scott gave Ruth a bound book of her blogs..it is amazing. You should consider doing that. Your posts and pictures are something your children, grandchildren & great grand- children would love to read one day. They are all amazing!

I am happy that Della will be getting the micriarray test. I hope you will have some answers.
Even if the answers brings more questions. One day Della will help someone else...who might have something similar. She will inspire that family with her sweet smile and her accomplishments.

You both have already been a blessing in my families life. I want to thank you, Caitlin for your emails & blogs. For sharing your trials and blessings. I think you have helped my sister more then anyone has with your honest words.

PS
I love Della's pig tails! She looks like such a big girl

Science Teacher Mommy said...

Dear woman, they had better get this health care bill passed. For you and Della's sake.