Friday, September 28, 2007

Fall back position

I've been hearing some whispers that some folks miss my regular blogging. It is nice to be missed. Sorry to say things have just been crazy busy and frustrating around the home front of late.

Daughter is missing day #2 of school today with a nasty cough that just doesn't seem to want to go away. I've still got a scratchy throat but am hoping to hold off anything more major... Hubby is wavering and still not feeling 100% despite having taken off basically a week and using up both his sick and vacation time! The boy is home sick for his first day today (which I frankly never look forward to) with a cough and tummy ache ... most likely finally catching what the rest of us have already had.

In the midst of all this sickness, we managed to buy a new/used Quest Van with all the bells and whistles! So yes we've taken the plunge although thankfully it is basically equal in footprint to our recently sold Subaru Outback Forester Wagon. So now, when the kids aren't home sick (did I say Ugh yet?), we can actually carpool 4 or 5 kids in style - no more juggling of creative maneuvers.

Back to blogging. I've been trying almost every day to do some but then life has gotten in the way. We tried to have our boy assessed for sensory issues but frankly the developmental pediatrician talked to him, talked to us, looked at ALL THE MANY PAPERS we filled out and gave us not so much. Her assessment: He is a very bright boy whose social and emotional skills haven't caught up yet (in other words, try to stay calm and try out some new parenting techniques). Mind you, no sensory assessment at all (she said it isn't covered through our insurance - knew that duh - and that in her opinion it isn't proven science. Thanks very much.

What really ticks me off no end however is the fact that although one of her own medical colleagues and our paperwork both indicated the likelihood of Noonan's Syndrome in our boy, she stated she didn't know what it was and by the way apparently couldn't even take the time to do a quick google search. Quick search give me this from Wikidepdia:

Noonan Syndrome (NS) is a relatively common congenital genetic condition which affects both males and females. It used to be referred to as the male version of Turner's syndrome[1]; however, the genetic causes of Noonan syndrome and Turner syndrome are distinct. The principal features include congenital heart malformation, 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, a pediatric cardiologist born October 28, 1921 in Burlington, Vermont; she is now based in Kentucky.
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.

Now that wasn't so hard - took all of about 3 seconds honestly.

Luckily for us the boy has an IEP and is already working with an occupational therapist around handwriting issues. That same woman has worked with him off and on since he was 2 or 3 years old and knows about Sensory issues - does assessment and therapy in private practice... so even without the help of above-mentioned doctor (who came highly recommended) or our insurance, we have options to move forward.

We are also now looking into the possibility of Restless Leg Syndrome. The husband seems to think this is an Aha moment - and maybe it is. Another avenue to go down.

And while I'm not doing research and trying to get support and answers online for whatever might be ailing (or not serving) my son, I'm staying home with sick kids, busy as all get out at work, trying to parent help at elementary school, trying to get this other paid blog off the ground and now taking class photos for my daughter's preschool - wish me luck. Sorr there haven't been much in the way of photos on this blog lately either... just too time consuming but I'm hoping to get back to it soon... promise.

What's keeping you busy this Fall?

2 comments:

  1. Wow, I wouldn't bother with that developmental pediatricain again. I did my own research on Google (literaly under a minute) and would say with almost 100% certainty that NS is what your brilliant young lad has. Apparently there is no diagnostic test for NS at the moment but they are slowly pinpointing the gene around chromosome 12.
    There are several treatments for complications that come with NS, as I'm sure you are aware of, so it would be nice to have a pediatritian on board with you in looking at sensory and other issues.
    Have you looked into NS support groups?

    Anway besides all that... The begining of our year has been trully exceptional so far! And we are so sorry for the rocky start to yours...our colds only lasted ofr a day or two. We are staying busy with a new 3 month old kitten named Toph after a character on the cartoon Avatar. This is our boys first pet and they absolutley love her! And soon I will be hanging bats around the house, a long standing October tradition.

    ReplyDelete
  2. Hello, they have found the 4 genes so far in people with noonan syndrome. That covers about 70% of people diagnosed. Still need to find the other 30%.

    WW

    ReplyDelete