S1235R

L

LittleLab4CF

Super Moderator
S1235R is one of those CFTR (Cystic Fibrosis Transmembrane electrolyte conductance Regulator) genes that doesn’t need a second copy to be virulent. Roeann’s description and the excellent reference article says as much.

Terminology that I rarely see is found in the article referenced by Roeann sort of warms my scientific cockles, “Pancreatic Cystic Fibrosis” or “cystic fibrosis of the pancreas”. There almost seems to be two kinds of CF at work here, pulmonary and pancreatic/GI.

When you think about it, every single cell in our bodies carries two copies of the CFTR gene. Every nerve cell, muscle cell, bone or gland cell has the same genetic compliment, excepting germs cells, sperm and egg which carry just one half of our genetic expression. The CFTR gene isn’t turned on in the vast majority of cells. FYI, for some strange reason, a perfectly healthy gene (CFTR), is named after a disease, Cystic Fibrosis. We all have two copies of CFTR genes, problems arise when something is wrong with the CFTR gene(s) which we call CFTR mutations.

There are methods of reducing the pain and damage done to the pancreas. You won’t find doctors who have a clue as to how this is done just everywhere. Pancreatology is a limited specialty and irreplaceable when you really need one. Here’s a link to one source; http://www.clevelandclinicmeded.com...gement/gastroenterology/chronic-pancreatitis/

S1235R is in Kalydeco’s moderator list. As soon as Kalydeco is FDA approved for all mutations, investigate having your son start taking it. Anybody know exactly when? Kalydeco is a genetic drug that fully corrects mutation G551D and helps or moderates three groups of mutations. The top group is theoretically helped the most, mid group is helped a little less and so on. S1235R is in Kalydeco’s middle list and the second it comes available, I am going to try it.

Trying to read our genes like genetic tea leafs is a fool’s errand. Twin studies have shown that CF’s genetics and its physical presentation can be asymptomatic for one and fully devastating for the other. The matrix of two different mutations now represents a huge number and finding another parent or CFer with a particular combination is going to be the best data. Even that is open to wide differences. Add in the advances in genetic medicine and I suggest you have a great deal to hope for.

LL
 
C

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my 8 year old son has s1235r. No other mutations were found and he has high normal sweat chloride. He had recurrent pneumonia (6 times in 2 years) and poor weight gain, which led to the testing. The poor growth continues, but he hasn't had a pulmonary infection in almost a year (we have no clear explanation why he kept having it and no clear explanation why he hasn't for a while now, either).
 
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