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M470V and 5T/7T genetics? Lets talk!

On Health & Drugs & Medications » Respiratory Diseases

4,439 words with 6 Comments; publish: Sat, 15 Dec 2007 05:10:00 GMT; (90062.50, « »)

Hi. I am on a mission. I am 37 years old and am being treated for CF. I do not carry the actual diagnosis because my genetics are not typical CF mutations. From reading some of your posts, I realize that there are probably lots of us with this situation.

I need your help. I would appreciate it if anyone who has or knows someone who has the M470V and 5T or 7T genetics would answer this thread with a discription of symptoms, genetics, and diagnosis history. I want to take that list to my doctor and see if he will look into this further. You could all do the same.

I believe that in time, M470V will be called a mutation and not a polymorphism. We can speed this along, helping not only ourselves, but the many who are told that the don't have CF and are denied care.

I am looking forward to "meeting" all of you. Take care, God Bless, and Thanks, Catherine

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  • 6 Comments
    • I know this post is dated however I find my son in the same position. If anyone can help me I would greatly appreciate it. I feel so confused.

      Thanks- Matt's Mom

      #1; Sun, 16 Dec 2007 19:31:00 GMT
    • A person I worked with had a teenage daughter who was tested numerous times for CF, had similar symptoms -- reflux as an infant, horrible stools, lung problems. At a young age they noticed her fingers were clubbing. They never could come up conclusively with what she had -- referred to it as asthma, lung disease... Anyway, they were fortunate enough to find a doctor at an accredited CF clinic who treated their child as if they had CF even though test results were inconclusive. Nebulizers, medications, chest physiotherapy...
      #2; Sun, 16 Dec 2007 19:32:00 GMT
    • Hi. I am on a mission. I am 37 years old and am being treated for CF. I do not carry the actual diagnosis because my genetics are not typical CF mutations. From reading some of your posts, I realize that there are probably lots of us with this situation.

      I need your help. I would appreciate it if anyone who has or knows someone who has the M470V and 5T or 7T genetics would answer this thread with a discription of symptoms, genetics, and diagnosis history. I want to take that list to my doctor and see if he will look into this further. You could all do the same.

      I believe that in time, M470V will be called a mutation and not a polymorphism. We can speed this along, helping not only ourselves, but the many who are told that the don't have CF and are denied care.

      I am looking forward to "meeting" all of you. Take care, God Bless, and Thanks, Catherine

      #3; Sun, 16 Dec 2007 19:33:00 GMT
    • hi cahterineinsc,

      i read your post. my son is almost 5. he has deltaf508, m470v and7t9tvariant. cf is in the family first cousin. my son has poor weight gain, foul stools, and malabsorbs. they cant give a definate answer they say the m470v and7t9t hasnt proven cf yet. wish i had more to tell you oh ya has bad reflux too. let me know if you find out anything. thanks.

      andrews mom

      #4; Sun, 16 Dec 2007 19:34:00 GMT
    • I'm the mother of a 3 year old that has been genetically tested to show no variations of CF, but homozygous (two identical alleles) for M470V. One inherited from me, the other from her dad.

      According to our Ambry genetics test results it is known, not as a mutation or variant, but as a polymorphism. My daughter is treated similar to CF Patients in respect to her sinus/respiratory problems, however we don't seem to have any other symptoms typical of CF.

      I'm still learning about M470V but what we have been told is that it is not a variation of CF at this point in time. Our CF/Pulmonary specialist did say that in the future there is a possibility that doctors may look back and say, it is a form of CF, however she did not think it was likely.

      I've been reading everything I can about it, so I'd really like to here what you guys know if you don't mind sharing.

      #5; Sun, 16 Dec 2007 19:35:00 GMT
    • Hi

      I am going through the same thing with my son who is seven. I was also told that it is a polymorphisim and it effects the sinus area and pulminary area as well. He has had sinus surgery and will need another one over the summer. It is hard to have a child who falls into this gre y area because there is no expert to help you. My son takes flovent, singular, flonase and xopenex when needed. His sinuses are constantly swollen and inflamed. He is always sick. I wish I had more to share with you. I know how you feel and you are not alone.

      Matt's Mom

      #6; Sun, 16 Dec 2007 19:36:00 GMT