99 Balloons

If you have never watched the video - please do. It is ..... soul touching.

99 Balloons

Stories Shared ... but he cannot hear?

So Noah's story is up on http://www.benotafraid.com/ .. it is under STORIES and "Trisomy Mosaicism" ... the article is called "Against The Odds" ...

At this point - Noah's hearing is pretty bad. He doesn't register as normal ANYWHERE on the tests. It *could* just be the fluid in his ears... that seems to thicken and stick in there (first set of tubes at the age of 2, the DR said it was like pulling nightcrawlers out of the ground it was SO THICK!) ... or there could be more damage then the minor damage we know about. It's hard.

One other thing, Nathan is just getting over his first ear infection, mild pneumonia, first antibiotics and first diaper rash, on TOP of cutting his first two teeth - ALL IN ONE WEEK TIME! Oye that boy is going to keep me busy! LOL... He's better now :) Finally eating better agian and all that fun stuff ... ::whew:: Last weigh in he FINALLY made it over 11lbs! He was 11lbs 2oz and 24 1/2 inches! WHooooohoooo!!

Just a thought...

Last night's Extream Home Makeover really touched my heart.

Course any show with disabled kids really does. I was sitting there, thinking... this will probably be a debate issues here in a minute, so before I get into it, I'm going to say a few things....

I am Pro-Life .. for myself. For my beliefs. I don't look down on anyone who has had an abortion. I definitely am 100% anti partial birth abortions (how freaking rediculas!! If you are going to give birth, have the baby and give it up for adoption!!) And I don't agree with people who use abortions as birth control. However, I did support a best friend through an abortion - didn't pretend to understand it because her and I had had the same beliefs all our lives, but she was stuck in a situation she created on her own and had a late abortion (early second trimester) ... but she was my friend, so I supported her.

Anyway - I was sitting there thinking... look at this child (well he was an adult, 19) ... and look how amazing his parents are, and how amazing he is. If you know anyone who has a "disabled" child, or have one yourself, I bet that child is an inspiration... that child opened your eyes to the world of special needs and disabilities. They are no different then you and I... they are humans with challenges that they proudly over come and continue on with life normally. Even though, their normal and our "normal" isn't always the same... who knows what normal really is. Everyone's sense of normal is different.

Every once in awhile I get melancholy about how many parents choose to abort their babies because of news ... that they are not "normal" ... they take whatever DR is sitting before them telling them all the horrible things that your child will face, trying to make you feel that the only responsible choice you have is having an abortion ... or "interrupting" the pregnancy, as it was put to me 6 1/2 years ago.

Some parents don't even research... some get so depressed that their dreams of normal babies is shattered... and I understand all of that. However, taking someone's word for it - someone who you don't know, barely know, probably have never met before... seems a little silly to me.

Being part of a group where you see parents struggling with this type of decision all the time... it hurts. You want to tell them that they are crazy if they are even considering it... these children are probably the best thing that ever happened to a lot of us! But you can't.... at least I can't. I'm a firm believer that everyone has the right to their own choices, and values, and beliefs. No one's person's are correct, but they are right for them.

I fought through 5 years of infertility to get Noah. While 4 months pregnant, I was told from amino results, that I was carrying a child with a rare genetic disorder... Mosaic Trisomy 16... my OB never said anything negative.

However I was sent to a geneticist and they have - in my opinion - no bedside manner ... the picture he painted was horrible. Noah would have no quality of life at all... he would be so mentally and physically delayed his life "wouldn't be worth it" ... I sat there and told him "that's not necessarily true" and he stopped - as if he had never been contradicted before ... and he said ... "he WILL be mentally and physically delayed" ... He told me the baby would die in the pregnancy, if not, it would die shortly after birth - and if by some miracle, he went home - he would have NO quality of life. Of course these DRs are trained, I believe, to give you the worst case scenario. His only suggestion... that I "interrupt" the pregnancy. The term threw me for a minute... and then I realized, he was suggestion that I abort this baby who was kicking me (I was about 17 weeks at the time) ... who I have seen WAVE at me on ultrasound.... who I knew at that point was a boy... who had a name... who was already loved... he was suggestion I kill my child I fought for 5 years to have... I told him, "No, that is not an option" ... and he looked at my husband (at the time, my ex now) and said "how do you feel about it" and he put his arm around me and said "I agree with her" ... we were a solid unit there.

I'm not going to pretend the pregnancy was easy, I was terrified through the whole thing. I couldn't buy any baby stuff - brand new anyway. I got some used stuff... was given some stuff... but in the back of my mind, I knew it was possible my baby could die and I didn't want to come home to all these reminders. I bought him some preemie clothes on ebay... and all that... however... in my own head, in my own heart... I knew I just wanted a moment with my baby, at least. Just one moment where he was alive and I could hold him. I would take whatever time I was given .... and love that baby no matter what.

And (looks up) there he is standing in his doorway looking at his brother like he just said the most ridicules thing. Sure he has some delays but they are no where near the picture that DR painted. And I'll have you know, I take him to see the same DR just to show him that he is NOT always right about outcomes. It just bothers me how DRs like this - who have the power to give answers and hope - choose to give you words of horror and death sentences ... and only terrify scared parents further.

They throw around the option of abortion like it's an save all answer when it's not. Noah is one of the best thing that has ever happened to me.

That child showed me things, and touched me in ways that a child who didn't fight for their lives could never do. You ask any mother of a special needs child.... I bet other then wishing their child health instead of struggles they have to go through, if they knew how things would turn out... they wouldn't change anything. These children are no different then the rest of the world...

Noah and Nathan

I'm worried about Noah and Nathan right now....
Noah had a audiology exam and hearing test Monday per my request. He has been saying "huh?" .. "what?" way to often and he doesn't stop until either he looks at you when you are talking or you speak louder, sometimes both... his TV has been turned up to GAWD awful volumes and when you turn it down, he cries because he "cannot hear it!" ... this isn't a normal thing, and it's not a attention thing... and I just KNEW KNEW KNEW that his hearing loss had gotten worse. This time last year (last February actually) ... we had FINALLY after years of failed hearing tests ... were told he had a minor hearing loss in his left ear for higher frequencies ... nothing major but he would probably favor his right ear... and it may be a good idea to get an FM audio system in place for him in school (where the teacher wears a microphone and the child has head phones) ... well today's hearing test .... the results were beyond what I expected. Both his right and left ears have gotten way worse... NEITHER of the results for either ear are in the normal range... infact, it's now considered a "significant loss" ..... he does have a lot of fluid in his ears, and no ear infection ... he may need tubes again... we don't know if this is the reason why his test results were WAY worse or not... he has another test in 2 weeks.
Today I also found out - because I asked his PED what his heart issues were coming home from the NICU ... that I knew they were different then what Noah had... so he read them off, said that all of them were normal heal themselves with time type things except for one thing... and I asked "what is that?" He said... "his aortic valve is misshaped..."
... And you wonder why he isn't gaining weight!?!?! The three signs of issues are rapid breathing, difficulty feeding, and failure to thrive (the 4th this is blueness in the lips) ... I would like to slap someone... Nathan has a Cardiology appt w/ EKG & ECHO ... the urologist & a GI dr on the 28th ...

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 :)

Benotafraid.net An Outreach to Parents with a Poor Prenatal Diagnosis

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 :)

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...

http://www.newsday.com/news/health/ny-liauti0110,0,1961343.story


Study finds link between genetic flaws, autism

BY DELTHIA RICKS
delthia.ricks@newsday.com

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."

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