"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

Monday, September 14, 2009

Genetics Update

Sorry it has taken me a while to update about our trip to the geneticist. I have been trying to do a little research on what we talked about with the doctor on Wednesday before I blogged about it.

First, the doctor was thrilled about how well Marissa is developing and her level of intelligence and cognitive awareness. She said from what she can tell, Marissa is right on track and is a normally developing 2 1/2 year old, mentally speaking. Pretty much what we already knew, but it is always nice to hear it from someone who gets paid to have an opinion.

When we saw the geneticist over a year ago, she had two prevailing theories. First wasRubinstein Taybi Syndrome. The second was Hallermann Streiff Syndrome. Neither of these diagnoses really fit Marissa well. She had many characteristics of RTS and some of HSS, but some of the major components of each were just not there. So we left her office with no diagnosis. She told us she wanted to follow Marissa in the future to see how she developed.

Fast forward to last Wednesday. When we saw the doctor, we decided RTS had been taken off the table entirely. On a side note, let me just say that I am so blessed to have heard the possibility of Marissa having RTS over a year ago because I have developed relationships with some really great women online whose kiddos have RTS. God really works wonders in our lives, doesn't he?

Now that we have determined Marissa does not have RTS, the only other guess the doctor has is HSS. She still did not feel strongly enough about it to clinically diagnose her, which is the only way to diagnose this syndrome, by the way. There is no blood test for it. She showed us pictures in a book, which were pretty extreme and really looked nothing like Marissa at all. She said with every syndrome, of course, there is a spectrum and Marissa would be on the high end of the spectrum. The syndrome is characterized by small stature (something we thought was a problem for Marissa last year, but she has caught up with her weight and height since then because it was a diet and vomiting thing rather than a genetic thing) craniofacial anomalies (which Marissa has to a small degree) and skeletal anomalies and problems (which Marissa does not have). The doctor agreed with Jeremy and me that we think Marissa's facial features are looking less syndromey (for lack of a better word) than they did last year.

In the research I have done online, I have found some similarities between Marissa and people who have been diagnosed with HSS. But most of the prevailing characteristics don't fit well enough to cause me to think she has it. Bottom line is this: Her geneticist thinks she might have HSS but doesn't feel strongly enough about it to diagnose her with it. Jeremy and I just don't think she has HSS. So many things do not fit and so many of the issues Marissa does have are not explained by this diagnosis. My mommy gut just says HSS is not it.

So, we did not get a diagnosis this time either. A diagnosis would not have changed how we medically treat Marissa and it would certainly not change how we treat her as a person. We may never know why Marissa has the issues she has. And, as I said in this post, I am OK with that!

And now, because I felt like ending this post on a cute Rissa Roo note, I present...

Big Girl in a Little Coat




8 comments:

The VW's said...

I have never heard of HSS before. I'll have to check out your link. Thanks for the update. I'm sorry that you don't have answers, but like you said, it doesn't really matter anyway. God made Marissa just they way she was meant to be.....WONDERFUL! And, with tons of rhythm too.....That girl can dance! TOO CUTE! HUGS!

Hope said...

I don't see any syndromey facial features either. Although I am sorry you don't have any answers. We didn't get any at Ava's appt either. Our girls are unique and beautiful and perfect!

KH said...

Am glad you're okay with the non-diagnosis.....and....HA! Love the big girl in a little coat....ahh...I miss Chris Farley...

Colleen said...

She's a silly girl! So cute! I'm sorry that you didn't get very far with the appointment, but it's cool that you're OK with it. God has a purpose for making beautiful Rissa Roo the way she is :)

Nana and PaPa said...

Ditto to eveything said before me. If there is a syndrome....or if there never is one....we love our dancing Rissa Roo! I just love her sense of rythm! Love you guys....
Love,
Nana & PaPa

Michelle said...

I'm glad I reminded you about the big girl in a little coat! She is so cute!
I would agree that you wouldn't treat her any different if she did have a diagnosis, but it would be nice to know so you don't have the mystery behind all of this.

love you all tons and thanks for posting the video! It put a smile on my face!

DevonLeah said...

I love your attitude on the appointment. Whatever she "has" she is such a little blessing, huh?! Watch out, Rissa has moves! lol Loved the hips rockin back and forth. Adorable! And the jacket, too funny. Some entertainment for me while I am up watching camden on my nurse less night ;p)

Janice said...

She is a mix of all things wonderful that only special needs children can be made of. The "no name" or even the "diagnosed" give the joy that parents of "normal" kids will never experience.

I don't know that Rissa's dancing ability or her facial expressions would be so strong or noticed as much if she didn't have to struggle to let us know who she is. Wow! What an incredible baby! XXXOOO from grandma!