Genetic Mutant...

Laney has been diagnosed with TRAPS. It is a genetic, Periodic Fever Syndrome. The Genetic Testing she was sent for, back in October came back w/ the results a few weeks ago.

When her Rheumatologist called and told me her results, he was surprised, as was I. All along, we thought, and were assuming she had PFAPA. This fits her symptoms just about perfectly. And on the positive side, it is not genetic and children usually grow out of it. If they do not grow out of it, symptoms lessen and there are no side effects, whatsoever. Her Dr. was actually going to skip the genetic testing b/c he felt so sure this is what she has. You need insurance approval to get genetic testing done. Thank God her insurance (thank you CHIP) approved it and we were able to get the entire panel of tests done, instead of just two or 3. (There are 7 periodic fevers).

It was hard to hear that she had this genetic mutation. If you search TRAPS, online (which I was told not to do), it sounds scary. Her Dr reassured me that she has a 'mild' case of it. Which, I am assuming means her mutations can show that. She should not develop amyloidosis and her symptoms should lessen as she gets older. I hope this is the case. No one wants to hear there is something wrong with their child. And this was difficult for me to face. Obviously, Dr.'s can be wrong. They are only human. And I am a bit of a pessimist (esp when it comes to my children's health). I always think the worst and blow it out of proportion. I know there are parents out there that are dealing with a child that has an illness way worse that what Laney has. I feel selfish for getting upset about Laney's DX. Honestly, I can't help it. I (we all do) just want my kids to grow up and have a happy, healthy life.

On a different note, as soon as I got off the phone w/ Dr. G (Laney's Rheumatologist) I started blaming Matt for her 'mutation.'  It is Autosomal Dominant, which means only one parent has to have the 'mutation' for the child to get it. After reading more into it, they said there have been cases where no family members have the mutation and a child still has it. It usually occurs at conception. Also, there are people who have the mutation and have never had one symptom of the disease. Genetics are weird. And go figure, Laney has a mutant gene. Only Her! ha! ;)