Karyotype: 46 XY, del 3p (13-14.1)
I’m Wyatt and this is my story of the “Mystery of the Missing Chromosome”.
My family thought maybe other kids with chromosome disorders could learn from all our experiences. Plus, I’m a big ham and love all the attention!
“And you may ask yourself-Well…How did I get here?”
– Talking Heads, Once in a Lifetime
I was born October 12, 2010 and my mom Lexie, my dad Michael and my big brother, Carter were really happy that I joined the family! Although there were a couple nervous moments during the C-Section that brought me out here, all was well and I went home with the folks after a few days of R&R at the hospital.
Compared to my big brother, I was a pretty good baby (he’s a maniac), although I spit up an awful lot so Mom and Dad tried lots of different formulas. Have you ever tasted Soy formula? Man, it’s no wonder we cry a lot! Gag me. Anyway, maybe that was the first indication they had that I was going to be a handful!!
Pretty soon, more and more things kinda seemed out of whack. Instead of sitting up, I fell over. I had a really hard time getting my arms loose enough beneath me to crawl, so I rolled around a lot instead. My eye was lazy and my fingers looked a little odd and didn’t open up quite right. “What the heck?” my folks asked the doctor, “Is there something going on?” My first doctor wasn’t too concerned so Mom finally got mad and found someone to listen to her. She has something called, “Mother’s Intuition”, which they tell me is pretty important and you should always listen to. The first doctor didn’t know that, I guess. It all worked out because my new and totally awesome doctor said, “Whoa Nelly! What’s Going On?” and I was sent to Stanford for Genetic Testing. BINGO! A chromosome disorder! Who would have known?
We share the experience of testing, diagnosis, therapy and basically putting the pieces of the puzzle together that makes me the happy-go-lucky guy I am today! We hope that our story helps some other little kid someday!
FINDING MY DIAGNOSIS
In order to come up with a diagnosis, I had to be referred to a genetic testing facility. In our neck of the woods, Stanford University Medical Center’s Lucile Packard Children’s Hospital has the best Gene Team around! They took my blood (ouch) and blood from Mom and Dad to compare. Dad was kind of a sissy about it but he didn’t cry or pass out or anything. Why test all of us? If we shared similar differences in genetic material, then it would be an inherited trait. In my case, I had stuff going on that my parents did not, so the doctors knew it was an abnormality.
At Stanford, they looked at my blood to test over 100,000 of those teeny little genes. It took several weeks for the full report to come back, but as soon as the Gene Team had information, they sat down with my family and explained what they knew about deletions like mine. Many of the problems I was having are common in Chromosome 3 deletions, such as:
- Strabismus, or lazy eyes
- Undescended testicles
- Reflux or digestive issues
- Developmental delays
- Speech delays
- Hypertonia, or muscles being stiff or tense (try crawling with stiff shoulders! Hmmmph!!)
‘YOU WANT TO DO SURGERY ON MY WHAT????”
After the initial diagnosis, we had LOTS of work to do. I had to see a Urologist for my “man” problems, a Gastroenterologist for the spitting up stuff, an Occupational therapist for swallow studies, and Nutritionist to make sure I was getting fed (just bring on the pizza, ok?).
In January 2012, I had surgery with the Urologist to fix my “little friends”. Piece of cake! But boy, don’t try and ride a bike right after that! Yikes!
Next focus was on my tummy and eating problems. My swallow study showed that I was ASPIRATING, or that little bits of food were going into my lungs. Not cool! Mom & Dad were taught to put thickener in my thin foods and bottles. Will I outgrow this? Is it something that can be fixed with surgery? Guess what? More tests to find out! Here comes the Upper GI! Woo hoo! Added to my team were a Neurologist and a Pulmonary Specialist.
Although we have to see the doctors a lot. I’m really lucky to have so many really cool peeps at Stanford on my team! They always make me smile and laugh and they explain things to Mom & Dad really well. If Mom asks questions, they really listen. Everyone works together to make sure that it all makes sense!
Wyatt’s Chromosome 3 deletion – What does it look like?
I have a deletion of part of Chromosome 3 between the section labeled 14.3 to 14.1, including the Fox P1 Gene. In my case, this was a de novo event, meaning, ” An alteration in a gene that is present for the first time in one family member as a result of a mutation in a germ cell (egg or sperm) of one of the parents or in the fertilized egg itself.” The picture shows exactly where on the little teeny, tiny strand there is a missing piece.