Within two months, which is a miracle to say the least, we were in to see both, the developmental pediatrician and the geneticist. We saw the developmental pediatrician first and learned a lot. The appointment was two hours and the most exhausting doctor’s appointment I have ever been too, except for the follow up appointments which were just as grueling. She tested and tested and found what I already knew. He wasn’t anywhere he needed to be developmentally. She immediately said we needed to see a geneticist which we were already seeing just the next week. She ordered us to bring back the test results and anything else the geneticist could send over and come see her again in another month or two.
The geneticist was an incredible doctor. She sat down with us and explained what she needed. She needed a long, long list of family medical history. I started digging immediately and talked to family members that I hadn’t spoken to in years. I put together a history that would shock a genealogist. The problem with family medical history is that no one wants to admit they have a medical history. If you know you have diabetes in the family, then you have to eat right long before it becomes a factor. I found out that I have diabetes in the family and am determined to give it a run for its money.
With family history in hand, we sat down with the geneticist for several hours. It was close to three hours when we left her office with orders for blood work. You would think the easy part would be the blood work but it wasn’t. Apparently along with no growth, we were also dealing with dehydration. We went to three different places to have blood drawn and finally ended up at Children’s Pediatric Hospital where the nurse took blood from the only place she could, his head. I cried. He didn’t.
Only a special needs parent knows the relief of test results, it is odd to explain the feeling that comes with knowing what you are dealing with. The geneticist called on a Friday afternoon with a string of letters and numbers and a website. She made us an appointment for Monday and told us to google and research what we could on 7q11.23 duplication. She gave us one medical website with a synopsis to get us started. That, may I say, was one of the longest weekends of my life!
There was very little out there about 7q11.23 duplication, but that as the geneticist explained was because it is 1 in 100,000. It is less than that when one of the parents carries the gene, but we didn’t. She tested us to make sure. Neither my husband nor I had the gene. My son was a “de novo” case or first of its kind (in our family, anyway). There were others out there with the dupe but it would be a while before we found them.
The geneticist sent us away with one and only one study published about the dupe with a promise to keep looking. The discovery of this micro-duplication was in 2005. The first study was published a year or two later. This was 2009. The next big breakthrough study wouldn’t come till 2010. The initial study was of one child with the dupe. He had seizures and disabilities both mental and physical, and he had a severe speech delay and low muscle tone.
We took what we had and ran with it. We saw every specialist except the podiatrist. We ruled out every physical health issue that was in the study. It was on a visit to the cardiologist to rule out any heart issues that God encouraged us with the testimony of someone who had walked a path so similar to ours. She was the cardiologist! She explained that she had numerous delays and health issues because of an illness her mother had while pregnant. As a result, her speech was slow and choppy. She was small in stature and explained that she had very poor balance. But, she didn’t let any of that stop her. She rode bikes and snow skied. And, she went to medical school. She said she always had to work twice as hard as any of her class mates. She had to study more and take more time on her tests. But, here she sat a pediatric cardiologist. She explained that she never had good balance but that didn’t stop her from learning to ride bikes and snow ski. She said she fell a lot more than everyone else, but she just gets back up and keeps going.
My husband and I sat in the car letting her words soak in. She sent us away never to return. There was no heart problem, but her words resonated with us. Of all the doctors and all the diagnoses and all the treatment plans, that visit on that day with that cardiologist will be the most memorable. God had spoken through a small woman words of encouragement that to this day get me through the tough challenges. God was in it! God was in our visits to so many specialists but especially that one.
After all our visits and evaluations, we determined we were on the better end of the duplication spectrum. He had anemia, acid reflux and constipation from low muscle tone, severely delayed speech, and delayed fine and gross motor skills. We wouldn’t know about seizures until they showed up. We had to wait it out till he was 5 years old. If he didn’t have seizures by 5 then we could consider ourselves seizure-free.
Tomorrow: Part 3, The Diagnosis