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.

Thursday, January 07, 2010

Della Belle's First Day of School/3rd Birthday


We made it! I was (pretty) sure Della would be fine at school. I guess I was the one that had a hard time. I don't think I have experienced a longer 3 hours. In fact, after an hour moping around the house smelling her blanket (weirdo!!) I did what any mom looking for comfort would do...went to Hobby Lobby. By the way, it's just as awesome as it's name. Anyway, the teacher said she had a "good day." What does that mean? That Della didn't cry the whole time? She also warned me that Della was really tired. Uh, yeah. I woke her up at 10:30AM yesterday. So 7:30 was early. Really early. We had a rough start...


Sassy new backpack...


When we got home, she inhaled the biggest meal I have ever seen her eat and then went to bed for 5 hours. We celebrated her birthday with chocolate cake. She poked at it with her pointy finger while making a scrunched up face. I forced a little in her mouth, she took a few bites, hucked the rest on the floor, and then threw a fit until I put her in bed.

Before I forget, Della-Bean got some fancy new legs. They have Disney Princesses on them and a hinge at the ankle. Very exciting. We also got some new kicks. Props to Chad for modifying them by cutting out the tongue, removing the insoles, and adding industrial Velcro.

Tuesday, January 05, 2010

Archer Minus One Tooth

Yesterday Archer came in whimpering about his mouth bleeding. He was trying to open a candy cane wrapper with his teeth and discovered one was loose. I told him that he could try and pull it himself, or let it dangle there (which freaked him out). He asked me if I wanted to pull it. I said no thanks. Two minutes later he had his tiny tooth in the palm of his hand.

I went to take his picture and I noticed his severe bed head (we are still on Christmas break) and pudding-smeared face. My first instinct was to make him wash his face and comb his hair, but since he looks like this most of the time, I decided to stay true to life...

I wish I had washed his face, it looks super gross.

Archer decided to set a trap to catch the tooth fairy because he was "pretty sure" it was either Chad or me doing the tooth/dollar swap in the middle of the night. After working with some left over Christmas bells, string, and a stack of pillows he switched to a reconnaissance mission. Here was the plan...

"OK, Mom. My idea is I am going to make a wall with my babies (stuffed animals) and then I am going to pretend like I am asleep. Then I am going to peek through a little hole in my baby wall and then I will see her in my room!"

Apparently his plan didn't work because he came crying into our room early this morning accusing the tooth fairy of theft since she took his tooth but left no monetary compensation behind. Don't worry, he found the dollar hidden in the sheets of his bed.

Della Graduates Baby School!

Yesterday, Della graduated from "Baby School" (as Archer calls it)...



The Harris County Department of Education provides speech, physical, and occupational therapy to children under 3 years old with developmental delays. Della turns 3 on Thursday and will start at the Preschool Program for Children With Disabilities (PPCD) which just so happens to be at the same school Archer goes to. I am having serious separation issues, but I won't get into that. We are praying for a smooth transition, well, at least as smooth as it can be for a child who is non-verbal and functions at about 12 months. How do we explain to Della that she will be leaving home for 3 hours everyday and going to a place where there will be lots of other children (upside) and where they won't let her "cheat" by laying/leaning on whatever is available (downside)? I guess what I am feeling isn't much different than what other mothers feel when they drop off their children for the first time. OK- it might be a little different since I have taken care of her as an infant for 3 years. Stay tuned for this Thursdays school report...