UPDATE from APPT: 8 yo with pancreatic insufficiency, fighting for genetic sequencing

Shellee

New member
hello I am new to this forum/site. Am wondering if anyone could help me and give me some info on this. My son, 3yrs old, has already had several pneumonia's, 3 sinus surgeries, and greesy or gummy stools, he has also been diagnosed with severe asthma, and hyperimmunoglobin Syndrome. Today his genetic workup came back as : c.1408A>G; p.Met470Val (two copies) could someone please help me with info.

thanks so much for your help, I truly love this forum thus far.

I am not sure at all what this can mean or have to do with CF.
 

Printer

Active member
Yes, she is a CF Specialist. She will be able to explain in detail the meanings of these mutations.

Bill
 

LittleLab4CF

Super Moderator
In case you missed it, Printer was being sarcastic. Patient yes but like many CFers we necessarily have become experts. CF doctors in my experience start as pulmonary or GI specialists and as such a CF center with treatment inclined toward one specialty such as GI from the viewpoint of Cystic Fibrosis. Pity the patient with GI and pulmonary health issues and one CF generalist.

I can tell you that in CF genetics won't help a thing in the short term. All CFers await a couple dozen mutation specific medications that may stop the symptoms of of 90%+ of CF patients. One is in wide use for one of the 4 most common CF mutations.

As far as genetics telling you more, if you are accurately conveying what your doctor so far has told you, a second opinion is a SUPER idea. I have an extremely rare mutation that even an heterozygous (inherited from just one parent) presentation has shown to be nasty. Some polymorphisms, a repeated thymine (T) as an example, of 5 or more cause CF presentation as heterozygous (5T/5T i.e.) all the way up to the 66% of CFers with the same mutation, heterozygous, homozygous, alone or with one or more additional mutations in every combination with every possible presentation from death at birth to the first CFer to scale Half Dome.

A really well informed CF doctor can determine if or when a magical gene pill is available. CF genes have a behavioral matrix. I have worked for years on it and can say with confidence it is coming. Just don't hold your breath.

LL
 

Ratatosk

Administrator
Staff member
I don't recall. You could post under the ambry link under families -- I know it was mentioned a few years ago and Steven indicated the mutations were quite rare.
 

Printer

Active member
Actually I was being serious but I should know better. My Cf Doctor was able to go in depth explaining my mutations (one extremly rare) but I also know alot of CF Doctors can't do that.

Thanks LittleLab4CF.

Bill
 

Shellee

New member
Thanks everyone, I am hoping to get some answers from the CF doctor... my 3 yr old is a pulmonary patient and was referred to the CF doc. Thanks again.
 

Julie7

New member
Shellee, my son has 2 copies of m470 too but have been told it is meaningless?? He has 5t/7t 12tg and mostly GI issues and sinus issues. He is being followed by Boston Children's but not on any treatments right now.
 
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