Yes, I Am Defective! I’m like the X-Men

This is a follow-up to my earlier post: Am I Defective?

It turns out after 3 months and hundreds of thousands of dollars later (Daddy says this is a lot of money) the doctors have found out that I am, in fact, defective!

I have a rare genetic disorder called Costello Syndrome.  From what the doctors say, this syndrome is caused by a mutation in the HRAS gene that makes a protein called H-Ras.  This protein helps control cell growth and division.  This could help explain why I was over 9 pounds when I was born at 38 weeks!

They say less than 300 people in the world have this disorder.  It will impact almost every aspect of my life.  🙁  I will not spend time focusing on what I probably will not be able to do in life but rather enjoy the time I have here, the people I meet, and the lives I change along the way.

In case you want to read more about Costello Syndrome, the parent brochure at this link is very good (just note the page numbers at the bottom since it is meant to be printed and folded into a pamphlet).

You can also get more information about Costello Syndrome at the Genetic Home Reference or US National Library of Medicine.

Daddy says I am like the X-Men on TV.  He says I am a mutant but he means it in a good way.  I found it kind of funny when Daddy was reading me the genetic test results from Baylor University.  They did not try to sugar coat it at all – they just flat-out said “Mutation Detected”.  I have the G12S version of Costello which is the more common mutation, accounting for 80% of Costello cases.

Costello Syndrome Test Result
Costello Syndrome Test Result

I will say though, it is nice to know what is wrong with me.  This means the doctors will have more information to be able to treat me better and Mommy and Daddy will be able to sleep better at night.  Ha ha – well, that is if I didn’t wake up 10-20 times each night!

Well, off to take a nap now.

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