Medical Shenanigans..

July 27, 2008| Jason Michael Reynolds|5 Minutes
July 27, 2008|By Jason Michael Reynolds|5 Minutes

Medical Shenanigans..

We are now making appointments to see 5 different specialists for various “abnormalities” regarding Jonny since birth. I think they are totally unnecessary but then again, I haven’t got a degree in medicine do I…

Since our first ultrasound with Virginia Mason at 22 weeks, the radiologist measured his nuchal fold (the amount of fluid at the back of the neck) at .6 mm and said it was ‘abnormal.’ The radiologist then said, “Well, I can’t give you any percentages, but it’s something to be concerned about.” Apparently a larger nuchal fold is a marker for any number of genetic disorders.

Our primary OB was out of town so we had to wait an hour and a half to talk to another doctor who told us that we should then talk to a specialist about it.

So we ended up with appointments every 2 weeks, one at a specialist for an ultrasound, and one at the clinic for the rest of the pregnancy. Apart from the 6 different ultrasounds, we had blood tests done at the specialists and they all came back negative for any kind of genetic or chromosomal abnormalities.

Fast forward to 2 weeks ago.

After delivery at our local hospital, a new set of doctors and pediatricians from Virginia Mason got a hold of Jonny’s chart. None of the results from the blood tests at the children’s hospital were included. None of the other ultrasounds. The only thing they had was an ‘enlarged nuchal fold’ at 22 weeks. So now, the fine Virginia Mason folks are looking very carefully for other signs of a chromosomal disorder.

After a very thorough checkup, they notice he has a bit of a cleft in his soft palette, more skin than usual at the back of his neck, a recessed chin, a bilateral hip click, and hearing problems in his left ear to boot. So what do they do?

…more specialists.

Ear, Nose & Throat Specialist, Audiology specialist, Orthopedic specialist, Facial/Cranial Specialist, Genetic Specialist/Counselor, and his routine pediatric checkups.

Cleft palates are fairly common, and Jonny’s is not even a full cleft. Because of the cleft, Jonny is prone to spitting up through his nose which to me accounts for the fluid in his ears since the nose and ear are connected through the sinuses.

My personal diagonsis:
He is perfectly fine. I did my own research on nuchal folds and apparently the nuchal fold check should be done at 11 weeks for accuracy, not later (his was done at 22 weeks), and also that .5mm is the norm, .4 at UW. Anything above 1.0 is cause for concern (Jonny’s was .6mm, hardly irregular). If not for this initial test, none of the other things would have been viewed as a possible chromosomal abnormality.

His chin is a bit small, but I don’t think it is any ‘genetic chromosomal defect’ I think it is perfect. The pediatrician didn’t even mention it so I’m not at all concerned.

Bilateral hip clicks run in my family, my first cousin had one at birth and she had no problems. I don’t see any cause for alarm of a chromosomal abnormality since they also ran a blood test on Jonny and that also came back negative. Even so they would like to do genetic counselling with us and all the ultrasounds of his neck, face, hips and all that. I think it is unnecessary but the medical people want to make sure all those bases are covered. So we get to shell out the copays, deductibles and all so they can tell us he is perfectly fine.

Leave a Reply

Privacy Preference Center

Privacy Preferences