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
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!