Diagnosis

These are Joshua's karyotype results. As the geneticist was talking to us about them, both Andrew and I were frantically rewinding in our heads to high school science. (Louise, wanna do a guest post to fill us in about chromosomes and genes? Seriously.)

Anyway from what I understand, this test is a general test which identifies chromosomal abnormalities. Joshua's test result was normal.

This is the result of the FISH test for William's Syndrome. They use fluorescence to light up certain parts of the cell. They were looking to see if Joshua was missing a certain thing. Because he had matching pairs of red and green this test result was negative for William's Syndrome.

Based on the normal karyotype and clinical signs and symptoms, the geneticist said we should consider him to have Noonan Syndrome. Wikipedia says this about NS:

The principal features include congenital heart defect, short stature, learning problems, indentation of the chest, impaired blood clotting, and a characteristic configuration of facial features. The syndrome is named after Dr. Jacqueline Noonan.

It is believed that between approximately 1 in 1,000 and 1 in 2,500 children worldwide are born with NS. It is one of the most common genetic syndromes associated with congenital heart disease, similar in frequency to Down syndrome. However, the range and severity of features can vary greatly in patients with NS. Therefore, the syndrome is not always identified at an early age.

We are glad to have a diagnosis from the point of view that we can keep a closer eye out for certain things that may come along with the condition, and treat them sooner than we otherwise might. These include thyroid problems, lymphedema (build-up of body fluid due to poor functioning of the lymphatic system), nearsightedness, and speech delays.

The geneticist found that his hip movement is a little restricted and so we are going to get x-rays to rule out any cause other than perhaps his positioning in the womb. This is likely unrelated and is a problem solved by doing some exercises with him to help him loosen up.

She measured his length (twice!) at 62cm. Compared to the 57cm that Dr. Flores measured (twice!) last week. Hm. You would think we'd have noticed a 2" growth spurt. The main thing I take from this is that baby length measurements appear to be highly subjective and inaccurate. And that Josh is doing fine in the length department.

We continue to have lots of peace and hope.

Especially since things have been so much better with and for Josh lately! He is an opinionated fellow, but not hurting any more! He tolerates short tummy time, bouncy chair and swing sessions now. He smiles and flirts. He doesn't need the soother as much. He nurses better. He hangs out in the sling quietly without needing to be bounced. The other day he sat on my lap for half an hour just watching the big kids' Taekwondo class. These are huge changes! He still has a poor relationship with the car seat, but he does have the occasional quiet stretch (which is such a relief- we'd almost given up on conversation in the car).

The nights are pretty good now. Left side and tummy sleeping helps mostly keep the congestion from getting the better of him. Sometimes very early in the morning I'll have to just sit him up so his sinuses can drain a bit, and then we can snuggle back together and sleep until it's time to get up. It seems like it is worse when the duvet is closer to his face so hopefully we'll notice a difference if I can ever get it sunned. Winter very suddenly came upon us and now it's been cold and overcast for days!