So today we took Jonny to the doctors office. Not the orthopedic specialist (that’s on Monday), not the cleft palate team (that’s on Wednesday), not the cranial-facial specialist, or the Ear/Nose/Throat Speacialist… not the Audiologist or the pediatrician…

…this time it was the genetic counselor and the genetic specialist.

So after providing the genetic counselor with a very lengthy family history over the phone, they met with us this afternoon. The combination of a cleft palate and a bilateral hip dysplasia may or may not be attributed to a congenital disorder. It could be something, it could be nothing…they don’t know. It vexes me because we have done so many genetic tests now (prenatal and post-delivery) I don’t see how they could possibly have missed anything.

And still they want to do more tests. Since he has a cleft AND the hip click AND a tiny bit of extra skin at the back of his neck, the genetic counselor wants to run a NEW set of tests. Apparently every cleft patient that comes through (regardless of results from any other tests) they want to test for something called velocardiofacial syndrome

Velocardiofacial syndrome
At least 30 different problems have been associated with it. None of these problems occur in all cases. The list includes: cleft palate, usually of the soft palate (the roof of the mouth nearest the throat which is behind the bony palate); heart problems; similar faces (elongated face, almond-shaped eyes, wide nose, small ears); learning difficulties; eye problems; feeding problems that include food coming through the nose (nasal regurgitation) because of the cleft palate; middle-ear infections (otitis media); hypoparathyroidism (low levels of the parathyroid hormone that can result in seizures); immune system problems which make it difficult for the body to fight infections; weak muscles; short height; curvature of the spine (scoliosis); and tapered fingers.

Also since he has a little bit of extra skin on the back of his neck apparently it can be a sign of Noonan Syndrome.

Noonan syndrome
Noonan syndrome is a developmental disorder characterized by unusual facial characteristics, short stature, heart defects, bleeding problems, and skeletal malformations. Eye abnormalities occur in up to 95 percent of people with Noonan syndrome. Problems with language and speech are common. Puberty for both males and females with Noonan syndrome is usually delayed for approximately two years. Most males with this disorder have undescended testicles (cryptorchidism) which can lead to infertility (inability to father a child) later in life. The majority of children diagnosed with Noonan syndrome have normal intelligence, but a small percentage have special educational needs, and some have mental retardation.

What bothers me is that we had tests done already for the genetic stuff and that all came back negative. Apparently that test was not necessary or they are deliberately trying to find things for us to worry about. These new tests include an echocardiogram and another blood test. After I explained that he had already had a blood test and the specimen was probably still on file, they conceded that he would not have to have additional blood drawn and will take my suggestion of using the specimen already drawn. Score one for Dad.

So now we get to schedule another appointment. Echocardiogram. *sigh

Monday is “D-day” so to speak with his hips. One of two hips is satisfactory with the help of the harness but one is still out of joint. If it is still out on Monday, they will opt for surgery to place the hip in joint permanently and he will have to be casted for 12 weeks. ick.

Wednesday is the first meeting we will have with a team of doctors who will hover around Jonny’s mouth looking to see the best way to ‘repair’ his cleft palate. double ick.

On top of that, Jonny is becoming more and more colicky. Crying sometimes the entire night (10+ hours) inconsolably, taking only 4 oz of milk between sobs in 8-10 hours (4 oz is usually 1 feeding). We’ve had auntie over to help us and take a night shift with him to spread out the sleep. After 3 nights of awful awful wailing, Mama tried switching up the milk. Usually she thaws out some of the older milk to use before it spoils, but then when she switched the milk to the freshly pumped milk, he did better. Eating 2oz without fussing and falling asleep right away. She figures it might be dairy-related so Mama is going to try cutting out dairy for a week to see if it makes a difference.

We are both pretty burnt out with all the appointments and the lack of sleep (Mama still has to make appointments for herself. 6-week checkup, and an appointment with the dentist for a cavity to be filled)

ANNNNDD I am now working on my newspaper (collecting 40 ads, laying out 32 pages) so I am doubly tired..and it is now midnight. Why am I writing this now? …oh well now you are updated.