Saturday, February 28, 2015

Rare Disease Awareness Day

We bring Aberdeen Awareness Month to a close with Rare Disease Awareness Day!

As I said when this month kicked off: To me, awareness isn't just about raising money for research (though that is very important as well), it's about differences becoming commonplace instead of oddities, it's about preparing a family for the unforeseen challenges of a medically complicated child, it's about better understanding the people around us.

These very similar pleas from parents with children with rare diseases (craniosynostosis syndromes, in fact), drive the point home:

There are so many conditions affecting the people around us that we know nothing about. Start somewhere. Pick one or two, learn something about what some people deal with on a daily basis! The following websites have lots of great information about this awareness-raising day and the diseases for which it advocates!

While Noonan Syndrome alone qualifies as a rare disease, Abby's variation and presentation are particularly rare. Very few cases of craniosynostosis have been reported in conjunction with Noonan Syndrome, and we've been told that Abby is the third reported case of multi-suture craniosynostosis in the presence of Noonan's.

When Abby was born, the geneticists initially thought she had a craniosynostosis syndrome like Pfeiffer or Apert, with isolated heart issues in addition. The first panel of tests they ran checked to see if there was a mutation of the FGFR gene, which is frequently the cause of craniosynostosis and its associated syndromes. These tests came back negative. At the recommendation of the cardiologists, the Noonan's panel was subsequently run. This came back positive for a mutation of the KRAS gene, which caused Abby's Noonan Syndrome.

Here is where things get complicated and a geneticist would probably laugh at my explanation, but I'll do my best:

Apparently the FGFR gene, which can cause craniosynostosis, talks to the nucleus of a cell through the Noonan's-causing KRAS gene. Since Abby's KRAS gene harbors a mutation, the messages from the normal FGFR gene got jumbled and ended up dictating craniosynostosis anyway. So, it's almost as though Abby has Noonan Syndrome AND a craniosynostosis syndrome, even though her FGFR gene itself is unaffected. Confusing, and quite rare. 

We adore our rare and complicated baby bird, and we think it is important that the people in her life understand her as best they can! Thank you for joining us in celebration of Aberdeen Awareness Month in the form of Feeding Tube Awareness Week, Congenital Heart Defect Awareness Week, Noonan Syndrome Awareness Month, and Rare Disease Awareness Day. We'll be back later in the year to discuss Craniosynostosis Awareness as well!

1 comment:

  1. Love these updates and love Abby. I think of you guys often and fondly.
    - Dr. Williams (from WPAFB)