Sunday, January 20, 2008

Honored.... & News...

I have been asked to write up Noah and Nathan's stories... sharing the ups and downs, but highlighting their fights and positive outcomes :)

I already have an article written about Noah's journey but I haven't yet written one about Nathan. So I'll be reviewing and working on that :) I'm really excited and very very honored!!
In other news.... I found out recently that I am................
Yep.... Here is Nathan learning the news....
He's not real impressed...

How'd you like it if you were the baby and found out that you wouldn't be for long!?!? LOL... They will be 16 months apart... we are currently wondering if it may be twins due to my high hCG numbers... we'll see... I mean they aren't SUPER high but they are definitely higher then what Nathan's were.

We are excited, due Sept. 20 - but due to repeat c-sections they probably won't let me go past 36 1/2 weeks agian like they told me with Nathan ... in that case, it'll be the end of August.

I am scared to death right now though.... not in certain ways, but I've had 13 miscarriages over 12 years... I will not be able to breath until the baby is born, however the weight of worry on me will ease through the time... seeing the heartbeat on ultrasound... getting into the 2nd trimester when miscarriage factors drop dramatically... starting to feel the baby move and kick, daily reminders that everything is okay... getting past the amino ... getting past 24 weeks when the baby is considered viable for birth... and finally - the birth of the baby when I can finally breath and have all that weight lifted off me.... in which case, all new worries start .. but good ones :)

I am - at this point - just hoping for a nice healthy fat baby.... that I can put pink on, but even if it is another blue baby, I'll still be happy :)

Wednesday, January 16, 2008

Choromosome 16 & Autism Linked...

Ya'll know that my son (Noah) ... has Mosaic Trisomy 16 ... well if you didn't you do now.. lol.. anyway - we've thought that he has had autistic traits in the past... just certain things that make you think that just SOMETHING isn't quite right... but the only thing that holds us back from him being tested or considered or whatever... is that he is a social bug :) LOL... he loves to carry on convos, and everything else... he likes his friends... but he gets very very upset if he's alone... well, that is the oppisite of what "autistic" kids are usually like... so I donno what to think, but then I read this...,0,1961343.story

Study finds link between genetic flaws, autism


January 10, 2008

Scientists have pinpointed relatively rare chromosomal flaws that they say not only substantially increase the risk of autism spectrum disorders in some children, but also provide a new target for genetic screening.

Findings by a collaborative team of researchers at 14 leading universities and medical centers now confirm that specific telltale defects on chromosome 16 can result in autism in about 1 percent of people who inherit the flaws.

There are 46 chromosomes in each of the 10 trillion cells that make up the human body. Results from the investigation, which was led by scientists at Children's Hospital in Boston, confirm earlier genetic research, including studies by scientists at Cold Spring Harbor Laboratory.Using sensitive new research tools, members of the Autism Consortium scanned the entire human genome and discovered that sections of chromosome 16 are either deleted or duplicated in some people with autism spectrum disorders. These neurodevelopmental conditions can range from mild to severe, and include symptoms ranging from learning delays to more complex problems in which children avoid social interaction or do not speak.

Dr. Bai-Lin Wu, a senior author of the study that was released online yesterday by the New England Journal of Medicine, said roughly 10 percent of all cases of autism can be traced to an underlying genetic cause.

"When you scan the whole genome, you scan every chromosome," Wu said yesterday. "But chromosome 16 was the one we found that had significant difference."

Because identifiable miscues on chromosome 16 can be isolated, he said, his laboratory can seek out the variation and tell parents interested in determining whether their child possesses a flaw. "This is the first [autism] study that combines research findings with clinical applications," Wu said of the screening possibility that the new analysis offers.

Dr. Michael Wigler, a molecular geneticist at Cold Spring Harbor Laboratory who has led a series of major studies on the genetics of autism, said the consortium's work helps elucidate its molecular underpinnings.

"I think this is an extremely well-done study," Wigler said yesterday. "It proves our theory that autism can be caused by spontaneous mutations," he said of DNA missteps that can occur randomly. "Sometimes the mutation can cause disease in the carrier and sometimes it doesn't.
"This locus," he said of the spot on chromosome 16 that scientists found to be flawed, "was actually first found by us. But we do not do clinical testing."

Wu said the study involved examining the DNA of more than 3,000 people, which included 1,441 autistic children, DNA from their parents and controls, who are people without the disorder.

The team found a segment of 25 genes on chromosome 16 that was missing in some of the children in the study. None of their parents possessed the flaw, which suggests - as Wigler has argued all along - that autism can occur as a spontaneous mutation. However, in other children whose DNA was analyzed, there was a duplication of chromosome 16 that also occurred in at least one parent.

Portia Iversen, a Los Angeles-area activist who helped develop a large DNA database now maintained at the National Institutes of Health in Bethesda, Md., said genetic studies will help demystify many of the unknowns about autism, which is estimated to affect 1 in every 150 children nationwide.

"We've known for some time that chromosome 16 is one of the hot spots in autism," added Iversen, the mother of a teenage son with the condition. "There were studies as early as the 1970s and '80s that showed autism is genetic and that if you have one child with autism, your chances are much higher of having another child with it."

The DNA database Iversen organized invited families to contribute blood samples. The database was used by Cold Spring Harbor Laboratory scientists for their genetic research.

Dr. Steven Pavlakis, director of pediatric neurology at Maimonides Medical Center in Brooklyn, applauded the new study by Wu and his colleagues.

"This tells you that something genetic underlies at least a portion of cases," he said. "We don't know how these cases differ from each other clinically."

Thursday, January 3, 2008

Sickies Go AWAY!! DR Appts too...

Well - seems everyone is feeling better... we're really hoping it stays that way... Nathan has been a bit off the past couple days... very crabby ... He just seems off to me... I cannot even really put my finger on it right now...

I have just spend the last hour calling different clinics and numbers and - ugh - trying to get some appointments made....

1: Neurology for Nathan - made - FINALLY got one in E.C. so I don't have to go 2 hours away... for Valentines Day - of all days....

2: Audiology for Noah - I called the Audiology dept he is seen in, 2 hours away - in order to get another hearing test made... after explaining that his hearing has gotten A LOT worse the last few months, and that I think another hearing test is needed... we're constantly hearing "What?!" "Huh?!?!" from him ... we've had to yell and talk slowly to him after a few times of that, even though he's about a foot away from us, and then he finally hears. That and he's got his TV turned up to 35 a lot - and this - 20 feet away - can be heard loud and clear in the house... seriously - from his bedroom in one corner of our house, and me sitting in the chair in the oppisite corner, I can hear it. When in his room, his TV can be heard great at 15, on the loud but not TOO loud side... Obviously - it's a need .... and then I get the "He just had a hearing test in February, with your insurance, the request needs to come through his DR" ... are you kidding me!?!?! UGH!!

3: Nutrition - for Nathan's lack of weight gain - which is actually tomorrow. What time? I don't know... I maybe calling that clinic to find out - usually they call the day before to remind you though.

4: Cleft Palate Specialist - for Nathan ... of course.... I called awhile back in order to get a referral to one of the Children's Hospitals... so when I called the PEDS office to talk to them about the referral for Noah for Audiology, I brought that up... that I hadn't heard anything yet... the nurse I talked to was the one I spoke to then (a month or so ago) and she remembered talking to the DR about (it's a small clinic - and although we are a big town, my kids are pretty well known there) ... anyway .. she told me to call the referral department and see what was up... so I called, and they said "Oh well the referral for Dietary came through and that appointment is actually on January 4th, which is TOMORROW" she said all excited... I interrupted her.. "No no no ... see he should have another one in there for a Cleft Palate Specialist... " ::sigh:: Long story short, they never got the referral... SO calling the clinic again ... the receptionist says "Oh well he's seeing DR. Moore here on February 14th ..." I said ... momentary brain fart ... "who's that? OH" sudden remembrance... "That's Neurology" then had to go into the whole spiel again... so then "which nurse was it you talked to?" ... ah.... "Penny?" I said half way confident... I think!?!?! ... Anyway I get transferred back to Penny and I talk too fast man.. LOL... anyway - she says "Okay - I'm so sorry about that, I know I spoke with him about it," so she was going to get that one back there too. OYE....... VEY........

:::: just BREATH Momma ::::

Anyway ... I still have to make a urology appt for Nathan for his hypospadious... to talk about the surgery and such (wahhhhh)

Seriously though - WHAT do you do when you end up being referred to a DR from another country with a heavy accent where they seem to understand just enough English to get by. Now don't get me wrong, I love diversity - however, when it comes to my child's health care, I NEED TO UNDERSTAND WHAT IS GOING ON!! So the DR that he was referred to for the Cleft Palate/High Palate issue... came up to see us that NICU before we left (yes back in May) ... and I could not understand him, I asked him to repeat himself more then 10 times through the whole conversation. And he seemed to have a hard time understanding me. Anyway, I just wasn't comfortable with him - so I avoided those appointments with the plan that I was going to ask Nathan's PED to refer him someplace else... but kept forgetting... lol... and now they dropped the ball... will it ever end?!!?!?

Let's see... other then making appts all morning - which I'm still working on ... I also called Nathan's Nurse (got her voice mail) so she can come check his weight and the Birth To 3 Coordinator to talk to her about up'in his therapy... (right now he's only getting OT for about 40 minutes, once a week) - which he has tomorrow at Noon - I am going to get up to wash bottles here in a few minutes... as soon as Nathan takes a nap I'm going to take a shower and get dressed... I've gotten a load of laundry done (in the washer) that I have to go throw in the dryer and then another in the washer... and I have a TON of freaking paper work that I have to do for Noah's evaluations at school coming up.. for his IEP meeting on Jan. 23

Oh and I just got the reminder call for Nathan's appt tomorrow - it's at 2:40