Update on Garrett's condition

tanzer13

I know that I have not been around much lately with school and all, but I know a lot of you have been following my son since birth so I thought I would pop in with an update.

So, as many of you know we have been waiting forever to get the genetics results on Garrett so he could be fully diagnosed. Well we met with his Genetics counselor on Monday and his results are back. He is now for sure diagnosed with Alagille Syndrome. He has the defect on the gene that would diagnose him as such. The only odd thing is that the defect is in a different place on the gene, a place that they have never seen before. So this is just another chapter in the long book of his life so far. At least now we have a diagnosis and we can go from there. Thanks to everyone for your thoughts and prayers.

Andrewsgal

Glad you are slowly getting some answers. Thanks for the update.

4Speedy

I'm not familiar with your son and his condition.  I hope this is good news for you in that you can now begin to get treatment/help?  What is agille syndrome? 

Good luck to you and your kiddo.

Temp108743750006959

Is there much known about the syndrome? Glad you are getting some answers.

Yodajo

Glad to hear you have a diagnosis and have somewhere to go from.  Why does it seem like as soon as we get some closure with one thing, another thing comes up?

#6

Im glad you got some answers.  Its good to see you again.  How is school going? 

minnasmommy

glad you finally got a definitive answer. 

I don't know where you bring G, but CHoP has a program (if you don't already know about it)...here's the link.

https://www.chop.edu/consumer/jsp/division/service.jsp?id=76418 

I know its kinda far for you but it is SUCH a great hospital.

good luck with everything.   

surfergirl28

I know how tough it is not to have answers, so I'm SO happy that you're finally getting some! Is there anything you'll need to do now that you know his specific diagnosis?

Sulla

Glad you're getting some answers. Hang in there!

tanzer13

Minnas, yes we just started taking him to CHOP this spring.  They are great there and we are very impressed. 

Here is a website with info about Alagilles if anyone is interested:

https://www.liverfoundation.org/education/info/alagille/

tanzer13

We are already doing basically what we need to be doing since they have been treating him like an Alagilles patient for the past year or so, we were just waiting for the genetics tests to come back so he would be diagnosed for sure.  So he is on all of the correct meds and seeing the right Drs and everything.  Now we just know for sure that this is something that he will have for life and is not something that he will just out grow or whatever. 

Heidisean

that is wonderful that you got some answers and I hope he does well!

On a side note we both have 1 mo 3 weeks and 4 day tickers going to Disney. We are going at the same time. FUN!

minnasmommy

glad you're having a great experience there. that hospital is amazing! we took S there for a 2nd opinion on her heart and they made it so easy to be there (as easy as a hospital visit can be-lol)

tanzer13

Heidisean, that is so cool!  Where are you guys staying?  We are staying at Saratoga Springs in a 2 bedroom with my parents and some friends, we can not wait!