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View Full Version : Df508 & m470v / 5t / 12tg



Rach3ica
03-28-2017, 08:55 PM
Hello, Does any one else have these Polymorphisms? If so what are your symptoms?

Jshet22
03-28-2017, 09:13 PM
My son has the m470v, which is not considered to disease causing. They have not found his mutations, but had a positive sweat test. He has tons of gi symptoms with the need for a g tube and recently been experiencing bouts of DIOS. Gaining weight gas been a huge issue.
lung wise he has had spontaneous pneumothorax's and with falling pft's the last 3 visits he is going to start Tobi. Overall I think he has done well and the preventative treatments are key.
but let me stress we have been told this polymorphism is not considered to be contributing to any of his symptoms.
I hope this helps.

Katherine H.
04-06-2017, 08:00 PM
My son has the m470v, which is not considered to disease causing. They have not found his mutations, but had a positive sweat test. He has tons of gi symptoms with the need for a g tube and recently been experiencing bouts of DIOS. Gaining weight gas been a huge issue.
lung wise he has had spontaneous pneumothorax's and with falling pft's the last 3 visits he is going to start Tobi. Overall I think he has done well and the preventative treatments are key.
but let me stress we have been told this polymorphism is not considered to be contributing to any of his symptoms.
I hope this helps.

My daughter also has m470v. She is Pancreatic insufficient. She has lots of lung issues. SI only know one of her genes but they doctor said the other is in the gray area. My daughter has gradually declined. She is now 19. Her baseline for PFt is 81. Lower is a lot lower.

My daughter only gained weight due to being on steroids for awhile now. She also has a belly sometimes due to malabsorption and constipation. My daughter takes lots of medication.