"Listen to the mustn'ts, child. Listen to the don'ts. Listen to the shouldn'ts, the impossibles, the won'ts. Listen to the never haves, then listen close to me... Anything can happen, child. Anything can be." - Shel Silverstein

Wednesday, July 9, 2008

No news is good news...maybe?

Today we went up to Denver to The Children's Hospital for a consult with the geneticist. The appointment went really well. We had been anticipating this appointment since our initial consult in April. That was when the doc told us she suspected Marissa had a syndrome called Rubinstein-Taybi. This diagnosis would explain and tie together all of Marissa's physical issues and finally give us something to tell people when asked the question "what is her primary diagnosis?". There is a blood test for this syndrome, but due to the fact that it is an extremely expensive test and our insurance co. would not let us know if it would be covered prior to having it done, we opted to not do it yet. She could be clinically diagnosed if the doc sees enough evidence firsthand that would lead her to believe she truly has it.
Jeremy and I have very mixed feelings about her being diagnosed. Who in their right mind would hope that their child has a syndrome? On the other hand, we have been told from the beginning that she has to have a syndrome of some kind. It is the only way to explain her multiple birth defects. Having a diagnosis would finally put a name to all of this and let us know what to possibly expect for Marissa's future, however, it would not change her course of medical treatment. We are doing everything for her that we would do with a diagnosis.
Well, we did not get that diagnosis today. I am very happy about the reason, though. RTS has many physical characteristics, but also some degree of intellectual disability and other neurological issues. The doc said that her cognitive skills are very good and right in line with her peers. In fact, she said that some of her skills are actually in the 18 month range and she'll be 16 mos. on Sunday! (she knows 13 signs and can do them when asked, and she is actively communicating some of her needs like a nap or a diaper change). She said she can't rule the syndrome out, but if Marissa is diagnosed at a later time, she is the highest functioning and cognitively on-track kid she's ever seen with RTS. That is great news, but we still have no diagnosis. Oh well, we've gone this long without one, right?
In other great news, Marissa is officially on the growth chart for her weight for the first time ever!!! Yay!! She is 21 lbs. now, which puts her in the 25th percentile for her weight. And her height is finally getting more proportionate to her weight. She has been tolerating 100% 30 calorie formula at night and been throwing up less too.
Time for the happy dance!!


Anonymous said...

then on the other hand I remember....I won't be moving up there to see her grow and succeed!! That makes me sad but I plan on coming up there as much as time and money will allow! Love to all...kiss my girl for me!
Auntie Katelynn

Anonymous said...

We are sooo pleased regarding the news. We hope all of this just continues to get better and better and we know that it will with such loving parents.
Love Uncle Norm and Aunt Teri

Anonymous said...

Little smarty smart pants! That picture is too cute by the way!
well no news is good news. She is high functioning of whatever she has! That is great to hear!
Love you!
Auntie Chelle

Anonymous said...

My daughter has a mild case of RTS, she is six years old and will be starting first grade in the fall. Almost all children with the syndrome have broad, sometimes angulated thumbs and big toes. When they smile their eyes look like crescent moons, super cute. Have you checked out the website? http://www.rubinstein-taybi.org/ ? If you go to our pages you can look at bios of the kids and see if there are similarities. The good news on this syndrome is that it is not normally passed down from the parents, hence your other children/relatives would not have a greater chance of having a child with RTS than the general population. I was glad especially for my son and my extended family. Best to you and yours,

Patty Campbell

Anxious AF said...

my son has RTS, you will have lots of support if you do end up with the RTS diagnosis.
Hope you get some answers, she looks great!

Myssie@PendletonMarket said...

My son, William has RTS. The RTS family is awesome and we are all here to support one another on this journey. Your daughter is beautiful! Just know that there is a support group out there.
God Bless,