Kiran and I had a busy day today, leaving the house around 9:30 this morning and not returning until around 2:30. We both needed a nap – he is the only one who got one – I had to settle for the adult substitute (COFFEE).
We started physical therapy at Childserve last week, and we love the PT and assistant we work with there! They both seem very knowledgeable and love what they are doing – and they tolerate my incessant questions and comments about our journey.
After our session there this morning, we stopped at Nana’s work to visit the ladies briefly and to have lunch. Then – because Papa Joe has been quite adamant we always visit Nana at work – we headed over to HIS work to meet the guys during their lunch break. It’s always fun to show Kiran off, but it is very different with a bunch of guys versus a bunch of ladies!
After our visit with Papa Joe, we headed back to ChildServe for our genetics clinic with the doctors from Iowa City. This was a follow-up they requested from when he was born. Kiran has had a specific test – the one for DiGeorge syndrome – and the chromosomal microarray – but no further testing. DiGeorge, as many probably remember from my relieved post early on, was negative. The microarray showed a small deletion that only affects one gene. The genetic doctor and counselor I met with today both feel this deletion does not explain Kiran’s (for lack of a better term – ugh) abnormalities.
The genetic doctor examined Kiran, and he revealed no clues. She said he just looks too normal. She was hoping to see some features that would give her an idea of specific genes we could target for further testing. At this point, she is not finding any syndromes that connect his three major abnormalities (heart condition, vertical talus (rocker bottom foot), and vision/eye issues). I could have chosen to do a massive look at the genes – similar to the huge chromosomal test – but it wouldn’t necessarily give us any answers and may actually cause more questions.
After discussing some courses of action, they feel it would be good for Kiran to have a kidney ultrasound (sometimes vision issues and kidney issues can go hand-in-hand, though they feel it’s a long shot because if he had significant kidney problems, we would surely know with how much we have monitored him this past year). Since it’s non-invasive and quick and can provide more information, I am all for it. They also wanted his hearing tested medically again (we have followed up through the Early Access program but not at the University since shortly after birth). And, they agree with our genetic eye doctor that a brain MRI would provide good information to help us get to the bottom of this – and, most importantly, provide us with a solid understanding of how we can continue to support Kiran and care for him best.
If all of these tests come back normal and fail to provide us any more genetic clues, they want to follow up with Kiran in a year to see how he is developing. If something pops up (And I will be honest – mom intuition tells me the best bet will be in the MRI) and helps us find a path to follow, we will discuss more specific genetic tests at that time.
So – no answers today. But we were able to discuss a plan I am comfortable with to move forward in hopefully providing answers soon.