(Almost) 4 year old son, awaiting "official" diagnosis

[elizabethk]

Hi all! My son is a rambunctious almost-4-year-old. He's had chronic diarrhea since birth. At 2 months he was diagnosed with gastroparesis. Medications and diet changes didn't really help. 6 months or so ago, he began to have an occasional (but daily) mild cough. It never goes away. He also "gulps" when he swallows sometimes...fairly frequently. Yesterday we went to the GI for allergy testing, and he also sent us for a sweat test. CF wasn't even on my radar!! He had the sweat test today. He "scored" a 60. We see a CF specialist next month.

Cystic Fibrosis. Wow. Not at ALL what we were expecting. I want a recount.

 

[Aboveallislove]

Big hugs mom. Yes, I know the feeling. I want a "sorry, wrong number" when the newborn state rep called when DS was 12 days old with the news. But the good news is that if it is CF, he will start getting the right treatment and better. Did they do the Sweat Test at an accredited CF Center? If not, they might not be accurate and you'll want to redo at the CF Center when you go to see the specialist. You'll also want to have his mutations run so you know what those are. The good news is that if the sweat test is accurate, the number is low enough to indicate his CFTR gene has "residual function" meaning it functions some. Which translates into Kalydeco likely working for him. They are just finishing a study of 2 - 6 year olds with gating mutations which your son might be "lucky" enough to have given his low sweat #. And other studies are drugs are near at hand. Hang in there and know that with a proper diagnosis he'll be so much healthier.
Praying for him and you tonight. Hugs
Love

 

[elizabethk]

Thanks. I appreciate your words and your prayers! I don't have a CLUE what you just said to me, but I will look into all that. The initial test was NOT done at an accredited CF center, but the follow up IS scheduled at one, and they will be redoing the sweat test as well as performing some other testing.

It's odd to me that we wouldn't have caught it before now, as he'll be 4 later this month.

And all I wanted was allergy testing. Geesh.

 

[Ratatosk]

I have a friend whose daughter was diagnosed at the age of 3. Never really sick but had some digestive issues. They tested her when her brother was born and newborn screening detected CF. Both are DDF508. Not something a doctor would normally look for. Most people think lung issues when they hear about CF; however, DS was diagnosed due to a bowel obstruction at birth. Wasn't even on the radar. No family history and we have genealogy info going back hundreds of years.

Hopefully you'll get some answers soon.

 

[Aboveallislove]

Dear Mom,
I'm so sorry I was talking gobbled gook. Hope this helps: To have CF you typically have two CF mutations (might be very very rare cases where you wouldn't but that might just be a mutation not know). Basically, we all have a CFTR gene and a mutation is just something that isn't the "normal". There are over 1000 (maybe even close to 2000) CF mutations. They have to run a blood test to see which ones a person has. They'll likely start with a small panel of 40 to search for the more common mutations and if they can't find try a larger pool of 1000+. There are different "classes" of mutations, meaning that each class of mutation makes the gene work improperly in a different way. Some mutations work well up to a point. Others not at all. Residual function mutations and gating mutations work up to a point. There is a medicine out now called Kalydeco which makes the CFTR gene work properly to a very high level (50%ish). Mine works 90% because I am a carrier. My husbands 90% because he is a carrier (carrier of the mutated CF gene). Our son got one of mine and one of my husbands CFTR genes and he unfortunately got the bad on from both of us. His CFTR gene only works about 1%. Those with residual function or gating mutations might work 20% or 30%. There is research out indicating that with other drugs that they might get to 80% function for gating mutations. And our sons could get to 50% with those drugs. SOOOOO, it is important you know the mutations because that will tell your doctors and you if the drugs will help and which ones in the future will help fix the problem. (The "worse" the mutation usually the higher the sweat test result. Our son's was 133, as he has two more severe mutations. The lower the test indicates more CFTR function and thus a more mild mutation AND likely one that will benefit from Kalydeco. But you need the sweat test redone at the CF Center to know it is accurate b/c most places have no clue how to do. I hope this helps and please know of continued prayers. And I can only imagine the feeling of "I just wanted a frickin' allergy test. What do you mean Cystic Fibrosis." But again, if it is CF than Thank God he'll be getting the treatment now and be able to keep so much healthier with the proper meds.
Hugs and Prayers,
Love

 

[Rima]

Mutations linked to symptoms, linked to geographic origin?

Dear Aboveallislove
Thank you for your post. I'm new to this. I'm wondering if somewhere out there on the www is a list showing all the 2000 gene mutations linked to most probably symptoms and geographic origin of that particular mutation? We know our son is a CF carrier of F508del but he has some CF symptoms (chronic diarrhea since birth, early aqueous wrinkling) and I'd like to do some more genetic testing but help guide the doctors on which ones to test for. I"m half Palestinian, half German, my husband is Swiss. My Palestinian origins are most likely from Crete in Greece, my German roots, most likely Russian....and so I'm thinking it might be possible to identify which mutations are most likely the causes based on blood origins and symptoms...any help would be most gratefully welcomed. Thank you. Rima

Dear Mom,
I'm so sorry I was talking gobbled gook. Hope this helps: To have CF you typically have two CF mutations (might be very very rare cases where you wouldn't but that might just be a mutation not know). Basically, we all have a CFTR gene and a mutation is just something that isn't the "normal". There are over 1000 (maybe even close to 2000) CF mutations. They have to run a blood test to see which ones a person has. They'll likely start with a small panel of 40 to search for the more common mutations and if they can't find try a larger pool of 1000+. There are different "classes" of mutations, meaning that each class of mutation makes the gene work improperly in a different way. Some mutations work well up to a point. Others not at all. Residual function mutations and gating mutations work up to a point. There is a medicine out now called Kalydeco which makes the CFTR gene work properly to a very high level (50%ish). Mine works 90% because I am a carrier. My husbands 90% because he is a carrier (carrier of the mutated CF gene). Our son got one of mine and one of my husbands CFTR genes and he unfortunately got the bad on from both of us. His CFTR gene only works about 1%. Those with residual function or gating mutations might work 20% or 30%. There is research out indicating that with other drugs that they might get to 80% function for gating mutations. And our sons could get to 50% with those drugs. SOOOOO, it is important you know the mutations because that will tell your doctors and you if the drugs will help and which ones in the future will help fix the problem. (The "worse" the mutation usually the higher the sweat test result. Our son's was 133, as he has two more severe mutations. The lower the test indicates more CFTR function and thus a more mild mutation AND likely one that will benefit from Kalydeco. But you need the sweat test redone at the CF Center to know it is accurate b/c most places have no clue how to do. I hope this helps and please know of continued prayers. And I can only imagine the feeling of "I just wanted a frickin' allergy test. What do you mean Cystic Fibrosis." But again, if it is CF than Thank God he'll be getting the treatment now and be able to keep so much healthier with the proper meds.
Hugs and Prayers,
Love