So on Monday, August 22, my mommy took me to the hospital and fed me some gross white chalky stuff. I guess this was called a modified barium swallow study. Well, apparently I passed because the next day my Mommy and my occupational therapist fed me some orange stuff. I must say the orange stuff was pretty yummy! I was so giddy that I spit the orange stuff all over my therapist. She said that is why she wore her orange Texas Longhorn shirt that day!
A couple days later my mommy and daddy fed me something that was yellow. They said they were bananas. Well, apparently, I don’t like bananas because I threw them up on two different occasions. I think we will stay away from those in the future!
Then they started giving me lollipops! Yippee!! Although, I was not a fan of the cotton candy flavor. Daddy knows to only give me grape lollipops from now on since those are my favorite!
Today I got to go to a park and get my photos taken. The park we were at had some pretty birds with huge feathers. Mommy called them peacocks. She didn’t let me touch any of them though. 🙁
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). http://news.costellokids.com/download/CS%20booklet%20071611-A4.pdf
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
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!
Today, August 5th, I got to meet one of my new doctors. He is a Urologist. He is the 12th doctor I have in my list of doctors.
He did another ultra sound on me and decided I need to have surgery before the end of the year to correct a hydrocele and to check out a cyst. They do not think it is anything too serious but we need to get it fixed all the same. If we don’t fix the hydrocele, then it might become a hernia which isn’t good. 🙁
I hate having surgery since I can never breathe well afterwards and it is scary to go to sleep like that. I am hoping to combine this with another procedure like an MRI so I do not have to go to sleep twice.
Maybe we can do it over Christmas or New Years! I’m sure Dell Children’s Hospital has a lot going on for Christmas and New Years. Maybe they will have some red and green mac-n-cheese or some yummy Santa Claus cookies!
Below I have a picture from the doctor’s office. I am also including some pictures from a “Mommy and Me” day where she got too “camera happy.” Ugh…
