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