Chromosomal Anaylsis

Remember the whole unknown marker thing on Salem's chromosomal analysis? Harvard wants to see if Brian or I have it as well. If we do we'll test Korie and Raina. They still don't know what it is but it would be good information to have down the road if it's ever identified and related to anything. We did get approved for a grant to cover the testing thank God as it would have easily been a couple of thousand.

Then once that is all done Salem will have the PTN11 test for NS and we'll go to Dallas to Cook's so it will done correctly.

I've not heard from her cardiologist about the endocrinologist referral but for now I am going to sit on that til Spring cause with all I have going on I am not sure I can handle all that. So we'll see.

The Noonan Shirts Are Ready!!!

I am proud to announce the Noonan Syndrome T-Shirt is Officially Available. Take a look at the shirt that you all helped to design. http://www.fivehumans.com/noonansyndrome

I think it's beautiful!!! And eye-catching enough to spark conversation and is stylish and fashionable so anyone would be proud to wear it.

Aaron King | Third Human VP, Business Operations FiveHumans® write: "Now, this was definitely one of our more difficult designs which is why it took us such a long time. In going through all of the questionnaires, trying to figure out what the shirt should look like, no specific design or "phrase" or "statistic" seemed to embody what the shirt should be while still being stylish. So we looked at what we think is the most "powerful" thing about NS that we've ran into, which is the passion and the voices of the NS community. So we decided to take every one of the 5 words that were submitted to us in the questionnaires with an attractive design element and put a little bit of everyone who submitted a questionnaire into the shirt, so it is truly emblematic of all of you. Obviously, there were words that were repeated numerous times and the most positive, powerful ones we highlighted in a larger more bold text, with the largest of them all being, PROUD.

So, we hope you enjoy the design and realize that every single one of those words is what Noonan Syndrome means to someone, and it's something that we feel will get enough people to stop, look and ask, that the people within the community can spread awareness with their voices and their stories, with the shirt just being a tool for those affected to deliver their own message."

Please consider ordering a shirt. A portion of the proceeds will go the NS Support Group!

Five Humans

Whoo Hoo!!! Look what I just read on the FiveHumans Blog:

I wanted to tell everyone about a very special community of people that truly embody what being an advocate is all about. The mothers, fathers and courageous children and adults living with Noonan syndrome are a strong group with a voice that can’t be ignored. They won the Next Cause vote by an overwhelming margin. Therefore, this month, FiveHumans will be creating a shirt for Noonan Syndrome awareness inspired by the stories, emotions and experiences shared with us by the NS community (the actual shirts will be available for pre-order when the design is complete and will ship a few weeks later). We have also partnered with the Noonan Syndrome Support Group to be the recipient of donations for the Noonan syndrome shirt. Stay tuned for more information as we will soon be announcing when the shirt will be available for pre-order.

How exciting is that? I am BEYOND excited. And if you've never heard of FiveHumans you need to know who they are! FiveHumans is a company with the self appointed task of curing ignorance around various causes through hip, fashionable clothing. Their clothing helps people become advocates because they spark conversation and spread awareness and Noonan Syndrome is a cause not well known. They always say - "Ignorance is a Curable Disease!" AMEN!

Remembering Angel & Brynna

October is Infant/Child Loss Awareness Month - so in honor of Angel and Brynna I thought I'd share their story. I know they are safe in heaven but I still miss them each and every day and it's been 6 years.

Brian and I tried for 4+ years to get pregnant. We finally did IVF and transferred 2 embryos. We were pregnant with twins. And a week later one of twins has split into identicals - we had triplets. It was overwhelming and exciting and about 11 weeks we lost one of the identicals. It was so sad but we had so much excitement regarding the other two that we put it out of our mind. At 22 weeks I went to an U/S and was excited to find out the sex of the babies. I had recently returned a rented doppler and finally felt so good about this pregnancy. But at this U/S we found out that one of the remaining twins had died. I was told that I was at risk if I didn't terminate the healthy pregnancy because of the deceased baby but I just couldn't. We had three and were left with 1 so I felt like she was destined to make it, So I was on bedrest for about 14 weeks. I had weekly appointments, U/S and non-stress tests. I developed polydramnios and basically my body seemed to think I was still pregnant with multiples. I then developed high blood pressure and was hospitalized at 34 weeks. I stayed in the hospital a week, went home a week and then came back and delivered Salem Ruth-Rhena. Her sisters are Brynna and Angel. Salem had a rough start and ended up being diagnosed with Noonan Syndrome and Hypertropic Cardiomyopathy. But she couldn't to grow and be healthy and is now a bright and healthy 6 year old without signs of the heart problem.

If you'd like to read more of their story click on this. I also posted a lot of my entire IVF journey and pregnancy and the problems Salem had after birth here.

I want to know NOW!

OK all you who know me know I am VERY Type A. VERY. Brian and my girls certainly know. I really work hard at not being overbearing and controlling - but it is hard.

So...being the type A person that I am I want to know everything...NOW...

So imagine waiting "patiently" for Salem's blood work results...chromosome analysis, karotyping, blooding clotting tests and PTPN11 gene test. They came AFTER our appt with the geneticist on Tuesday. I went to get a copy today. I've started keeping a copy of her medical file at home. It makes it easy getting things to three different specialists (possibly 4).

I don't even get to the car before I start reading...

This GTG banded analysis shows a normal cell line and an abnormal cell line containing a supernumerary dot like marker chromosome of unknown origin. The marker was C band positive indicating it is composed at least partially of inactive heterochromalin; the presence of actively coding euchromatin cannot be excluded by cytogenetic analysis.,

Parental chromosome analysis is recommended to determine if the marker is familial or de novo. If familial, array CGH with a heavy concentration of SAC clones is the pericantromaric regions should be considered. Familial cases have been reported in which a parent carried a marker derived from a pericentromeric region; it has been excised from a chromosome and hence the parent was balanced. The child received the parent's normal chromosome and the marker and thus has the unbalanced karotype.

UM WHAT? Seriously - I am one of those obnoxious people that know a little about a lot of things. Sadly enough - genetics is not one of those things. I have no clue.

What I do know is that NS is caused by a mutation in a gene - different than a Chromosome (but I don't know how to explain that. So now to have this worry that there is an unbalanced karotype - ACK. Seriously...

So I call the geneticist. She's out to lunch. I call Sarah her assistant - she's out of town. More thank likely I won't reach them for at least at week. Our ped doesn't understand the results either.

So Monday before I leave to go camping with LaRae, A'Lisa, Deanna and the kids I am sure I will be burning up the phone lines trying to figure this out so I don't go mad.

I know the bible says cast all your cares on him - that includes your kids. But ohmygosh it's hard. I want to know NOW.

NOW.

UGH!

Salem's Geneticist Appointment Update

Funny store before the serious...we walked in and said hi, she did all her stuff and then showed Salem this booklet and a girl that looks just like Salem. She wanted Salem to see that there are other kids in the world that looked liked her. Funny note - it was the booklet Salem did last year in Miami. Salem goes hey that's me. The look on the geneticists face was priceless. She recovered quickly and made sure to make a big deal about it throughout the office.

Serious - she looks good - nothing serious noted except her growth is kinda stalling. She's fallen off her NS growth curve quite a bit and if she stays at this rate of growth she surely won't be 4"11". More than likely 4'5 or so.

So she wants me to think about growth hormones afterall and talk to her cardiologist. She wants the referral to come through him as he will have to watch her heart more often. Then we would have to go to Cook's Hospital for the initial endocrinologist appt and then we'd be followed at the satellite clinic here.

Salem - Upcoming Cardiology/Geneticist Visit

Salem is due to see her pediatric cardiologist next week. She's still on her beta blocker and still has some minor issues. He mentioned a year ago putting her in a holter monitor. This might be a good time for that before school starts.

She is being included in the Harvard Gene Study for Noonan Syndrome. It probably won't matter at all to treatment now but I am hoping by the time she is an adult and considering having children of her own that it will have given more information to the researchers. Right now several genes have been isolated that cause NS. But not all kids have all the genes. The one she has just been tested for is the PTNP11. There are 3 others I believe.

Her geneticist visit is the first week of August. It's more of a clinical visit and usually very short. Please pray Salem does well in both visits. Salem is amazing but she's at an age where her questions about why she has NS and why she has to go to the Dr. and speech and PT and take medicine are harder to answer. I want to make sure and answer well enough to give her what she needs to know but not answer so vague that she knows I am not telling her something or too much and overwhelm her. What a tightrope walk.