TGF-beta mutation possible connection to FA and other genetic disorders?

Jmarc · August 29, 2015, 03:07:31 PM

hi goingnuts!!!!

i didnt recieve the message can you send it again? your not alone..<3

Macabre · August 29, 2015, 03:33:50 PM

MamaZu

hezzier · August 30, 2015, 10:39:07 PM

As far as I know we have no connective tissue disorders, but there aren't any relatives to ask anymore...my sister is my oldest living blood relative. Nothing seems out of the ordinary on DH's side.

MamaZu · August 31, 2015, 11:19:04 AM

Quote from: Jmarc on August 29, 2015, 03:07:31 PM
hi goingnuts!!!! i didnt recieve the message can you send it again? your not alone..<3

i just realized i sent it as an email, to the email address that pops up when i hit the little envelope under your name. hmm...sorry!
i will try sending again.

rebekahc · September 02, 2015, 09:01:40 AM

Thanks Jmar for popping in - nice to "see" you!

MamaZu, please keep us posted.

MamaZu · September 07, 2015, 08:22:04 AM

Jmarc i sent you another message. i hope you got it!

MamaZu · October 27, 2015, 06:18:52 AM

This week is crawling.
We are finally heading to JHU Friday to see Dr. Dietz. He's the cardiologist who discovered Loeys-Dietz Syndrome.
Still don't have the results of the genetic testing but this is week 5 of our "4-6 week" wait and Im praying we'll have some news by the appointment.
My anxiety is brewing, I want answers.

Please send prayers....
I'll post with news once we have some.

MamaZ

ajasfolks2 · October 27, 2015, 08:20:54 AM

MamaZu . . . hoping you post back with good news

CMdeux · October 27, 2015, 01:47:40 PM

ALL the best to you this week, MamaZu.

MamaZu · October 30, 2015, 04:24:11 PM

im exhausted and going on very little sleep so please excuse if i make no sense

Hopkins visit was productive. Dr. Dietz (as in Loeys-Dietz) is fantastic.
Genetic tests came back and ruled out Marfan, LDS, EDS...however they want to test further. Dr. Dietz feels he has a connective tissue disorder , and possibly one that hasn't even been discovered yet.
Testing his father and I as well, want to see if the one gene that came back questionable in my son is something that either of us also have.

His aorta is not large enough to need surgery. (THank GOD) we will manage with medication, and keeping BP low. No competitive or contact sports. No weight lifting, no straining.
Dr. D did put my mind at ease, saying my son isn't "fragile". Our goal is just to watch and make sure his aorta doesn't continue to grow.

He did say that its very likely his food allergies are somehow related to the gene that is causing the artery to enlarge. We just don't know which gene that is right now. and we may never.
Genetic testing is very complex, expensive, and takes time. I am trying to read and learn but its really over my head.

More testing in 6 months, so for now we just continue to adjust to new normal. I am so proud of my son. who is handling this like a champ. For a kid who's sports has been his life since age 5, he has shown me a level of resilience and determination I never knew he had. He's focusing on grades and golf, and he seems very happy. So for that I am grateful. Just want my boy to live a happy life and I could care less what sports he plays!!!

Thanks for listening and reading this ramble.

CMdeux · October 30, 2015, 05:12:31 PM

Good (?? at least not "worse") news, then-- I'm glad.