Hello! I'm kind of new here, been reading posts for a while but was not able to post until recently.
I have a nineteen year old daughter with the following mutations:
Ambry Full Gene Analysis: Variant, likely pathogenic: p.L375F; variants of unknown significance: none detected; TG Repeat/Poly T Variant: (TG)12-5T/(TG)10-7T. No gross deletions or duplications found.
Further testing revealed that one gene mutation is from me, and one from my husband.
Her symptoms are primarily gastrointestinal (had her gallbladder removed when she was fifteen and continues to be plagued with nauseousness and abdominal pain) although she also has coughing and choking episodes. She has been diagnosed with Postural Orthostatic Tachycardia Syndrome and salt tablets have improved her symptoms quite a bit. Her two sweat tests have come back as one at below 10/the other at 10.
We have been searching for an answer for her illness for years, and these mutations are the only thing that's come back as abnormal. We've had several doctors tell us it can't be caused by these mutations, but one doctor thought that it could and put her into the CFF registry, but has no plan of management to help her feel better.
So, I was curious what people on here thought of this data. Would appreciate any insight.
Thank you!
Veggiebin
I have a nineteen year old daughter with the following mutations:
Ambry Full Gene Analysis: Variant, likely pathogenic: p.L375F; variants of unknown significance: none detected; TG Repeat/Poly T Variant: (TG)12-5T/(TG)10-7T. No gross deletions or duplications found.
Further testing revealed that one gene mutation is from me, and one from my husband.
Her symptoms are primarily gastrointestinal (had her gallbladder removed when she was fifteen and continues to be plagued with nauseousness and abdominal pain) although she also has coughing and choking episodes. She has been diagnosed with Postural Orthostatic Tachycardia Syndrome and salt tablets have improved her symptoms quite a bit. Her two sweat tests have come back as one at below 10/the other at 10.
We have been searching for an answer for her illness for years, and these mutations are the only thing that's come back as abnormal. We've had several doctors tell us it can't be caused by these mutations, but one doctor thought that it could and put her into the CFF registry, but has no plan of management to help her feel better.
So, I was curious what people on here thought of this data. Would appreciate any insight.
Thank you!
Veggiebin