The 10 Month Wait Is Over: A Trip To A Geneticist

Today the wait to see a Geneticist came to an end.

When I made the appointment, in November '09, Noah was not walking, not talking, having a difficult time learning, and the diarrhea.... Oh the diarrhea.

I emailed my concerns to his pediatrician, Dr. Samson-Fang (who we love), and she agreed that there were enough items of concern to warrant a visit to a Geneticist.

I called to make an appointment and was told the next available opening was at the end of September. An entire 11 months away. So I made the appointment and we started the wait.

A few weeks ago they called and told me the Doctor was going to be out of town that week and rescheduled us to today (a whole 3 weeks early).

So bright and early this morning Noah and I climbed into the car and made the 30 minute trip to Primary Children's Medical Center (the fantastic Children's Hospital here in Salt Lake).

After a 10 month wait, I was hoping not to feel rushed or discounted and I wasn't disappointed.

We talked with the P.A. for 40 minutes then the Doctor came in. Here is what we discussed:

Based on a family history of Left-Heart abnormalities (both my cousin and my grandma), Noah's Congenital Heart Defect (CHD) is most likely just a "runs in the family" sort of thing and NOT part of a larger syndrome or disease.

The Doctor did not believe Noah fit the mold of any other diagnosis. There is a reasonable explanation for everything from his heart defect to his gallstones.

We discussed his diarrhea and how it seems to get worse with high fat or sugar intake (even whole milk... but not cheese). Celiac Disease didn't really fit so he mentioned Cystic Fibrosis. He didn't think Noah had C.F. but to just rule it out, we decided to get the test done anyways.

I don't know much about C.F. I've never researched it or read about it. I thought it was just a lung disease. But I guess the diarrhea and fat absorption fit. Since the test is non-invasive, in-expensive and gives a definite result, we decided to get it done. It's very simple. They just stimulate sweat production then test the sweat for the level of Sodium Chloride. As everyone with C.F. has high sodium chloride in their sweat.

He also said that Noah received some genetic testing as part of the basic newborn testing and also due to his immediate health concerns. Everything was normal. There is a new test that checks and diagnoses more items but given that Noah doesn't seem to have any disorders and his first test was negative, the Doctor didn't see the need to retest.

All this is good news! I doubt the C.F. test will be positive, but it's always nice to rule things out.

The Doctor also told me, that based on our family history, that I, along with my siblings and Lilly, should all be seen by a Cardiologist to rule out any abnormalities. Left-Heart abnormalities do run in families (like Bicuspid Aortic valve, which is what we suspect my Grandma and Cousin had, Aortic Stenosis, CoArctation of the Aorta, etc.). A Bicuspid Aorta doesn't always cause a murmur in children and can go undiagnosed. So we should ALL have a work up for it.

Because of this family history, I have a 1 in 25, or 4% chance that one of my future children will have a CHD. This is exactly what I have been told by Cardiology. If either I or any of my siblings end up having an abnormality, then my chances go up a lot.

So it's nice to know that Noah's history isn't smaller pieces of a bigger picture. Kinda cruddy to know that this family history of heart defects (which I did not know about until recently) is as prevalent as it is.

When the sweat test results come back, I will post again. But I will honestly be very surprised if it's anything other than negative.

BUT, if it is, Noah has proven time and time again that he will raise above it and do it with a smile.