Update on Jack!

Nothing diagnosed yet, but we are getting closer to a diagnosis for whatever this syndrome is that he has!

He had an appointment with the geneticist today. This was a new (to the clinic) doctor, so we had a new set of eyes to get a fresh look at him, while he still had all the previous information on him in his folder. I liked the other doctor just fine, but this guy does seem to be more aggressive in wanting to nail down a diagnosis. He did tell me at least twice that he agrees with me that there is "definitely something there" that is abnormal, different from my other kids. He looked over every inch of Jack and even pointed out some things I didn't know, such as a slight incurving of his forearms, a slightly webbed neck, smallish chest with wide-apart and flat nipples, broad and flat nasal bridge and maybe one or two other things I am forgetting. Here are the other things we have gathered over the last year and a half. Some of these may be insignificant or family traits, so that is why it can be so difficult to diagnose something like this if blood tests are not 100% accurate.

• wide-set eyes
• little "flap" of skin in corner of eyes over tear ducts
• small-ish jaw
• large fontanel (finally just closed!)
• very poor balance
• possibly poor muscle tone/weakness
• seizures (first two with fever, 3rd he stopped breathing then had fever next day)
• speech difficulties (only says maybe half a dozen words, but he will TRY to repeat just about anything.....could be caused by a hearing problem, which will be tested for soon)
• doesn't seem to be scared of anything or anyone
• seems slow to catch on to things and is developmentally delayed
• a few ear infections (the most my other kids have had in their whole lifetime is two, I think!)
• very laidback personality
• does not scare easily (or at all!)
• seems to have a decreased sensitivity to pain or touch
• is not as attached as my other children were at this age
• is very sweet and loving but does not really hug or kiss anyone (just started some)
• flat helix (outer rim of ears)
• my pregnancy with him was horrible.....I was much more sick than than the others, then I developed the HELLP syndrome and he was born c-section 6 weeks early.
• He was failure to thrive at 8 months
• short stature (he is about 5% on height and 50% on weight)
• those "coffee and milk" birth marks, a.k.a. Angel kiss on forehead and stork bite on back of neck
• nearsightedness (or will be as his vision develops more)
• possible heart murmur
• inturned pinky fingers (Jonathan and my mom also have this)
• (added 1/10) may not have any sweat glands, or they could be too small (we have not noticed any sweating since this last appointment in September.....if this is the case, it could be the cause of his fevers rising quickly and causing seizures!)

So the doctor's best educated guess for today (not a diagnosis yet) is the Noonan syndrome! Jack does seem to have a lot of these characteristics, so we will find out soon! They took some blood today and will look at his DNA as well as another thing or two (can't remember). He will also go back in soon for an echocardiogram, plus he wants him to have his hearing tested as well as some speech therapy. If this is what Jack has, he should go on to live a mostly normal, healthy, happy life! Praise God!!!!! He should be able to marry and have children, though his children will have a 50% chance of having this as well. But that is okay! If they are as sweet as Jack is, I'll take them any day! :)

I am amazed at how God created such amazing creatures of all kinds, even in this sinful, fallen world where there are many imperfections. His creation is still miraculous and amazing, perfect or not! I am thankful that Jack seems to have a mild syndrome, whatever it is, but even if it were more serious, I thank God daily for giving him to us. He is such a joy.....such a huge blessing to our family. :)


(added 1/10) Jack does not seem to have Noonan after all. We are still waiting on the most recent test, but after 3 (I think) tests for Noonan so far, we have yet to get any positive results. It can be very frustrating! It's not that I want him to have this, but we know he has *something*, and we just want to have a name to put to it, plus it might help us better treat his condition, if able.


The echocardiogram came back normal, hearing test was normal (but they just did the screener test), and he is currently in speech therapy and really enjoys it! He is learning to say a few words, but as far as understanding him, I can't really tell much difference. We enjoy it though, and he is also learning some new signs he did not know before (American Sign Language).