CRMS/CF Questions

[HuntersmomTBM]

My 15 year old son was diagnosed with CRMS last year. He also has Tracheobronchomalacia (floppy airway) with Innominate Artery Compression (an artery near his heart compress' his trachea a bit).

He has had 1RSV, 7pneumonia's, 6bronchitis', 15croups and countless URIs. He can get pneumonia within hours of first sign of cold. He is sick every 3 months. His first Sweat Test when he was 6-7 was borderline @ 40. His second Sweat Test @ 10-11 was 40, blood test was negative. He has been to the ER 35 times (33 breathing issues 2 constipation issues) he's been admitted 4 times. He had Failure to Thrive as a baby even though he was over 9lbs at birth. We still work hard to keep weight on.

His Genetic Test found No Mutation but positive for Poly T Variant 7T/7T. 7T is suppose to be non-disease causing. But not in his case.

His PFTs FEV1 average is 92% but his FEF25-75% average is 68-69%. I worry. Some say his mutations are just unknown since his Sweat Test are so high and history. I met a member on a another support with same finding (no mutation 7T/7T) (no Tracheobronchomalacia) whose CRMS was changed to CF after she cultured things. My son has not had cultured anything to date. He is followed by a CF clinic every 2 months.

What is your expert opinion here?

 

[jshet]

Hi. I was wondering if he is being treated with vest,nebs,enzymes or is he just being watched? I think at this point it really doesn't matter what they are calling it as long as they are treating it.

Just curious if he still has his tonsils and adenoids? My son had his removed and it really helped. We didn't realize how much they were affecting him. Just a thought.

good luck, I hope you find the answers you need.

 

[Printer]

I am not an expert but I will comment. You have not told us where he is being seen and who is doing the sweat tests. I would be interested in what level of genetic testing was done.

There are more than 1800 known mutations, any two of these will cause CF. 1800 X 1800 = 3,240,000 possible combinations. A newborn screening is only for 32-50 mutations, others are for only 100 or 200 mutations. Additionally the sweat test that is administered outside of an approved CF Clinic is not the same sweat test that is administered at an approved CF Clinic by a trained technician.

Your son needs to be seen at an Approved Cystic Fibrosis Clinic and he needs to have a FULL CYSTIC FIBROSIS SEQUENCING, for all known mutations done.

Bill

 

[HuntersmomTBM]

I am not an expert but I will comment. You have not told us where he is being seen and who is doing the sweat tests. I would be interested in what level of genetic testing was done.

There are more than 1800 known mutations, any two of these will cause CF. 1800 X 1800 = 3,240,000 possible combinations. A newborn screening is only for 32-50 mutations, others are for only 100 or 200 mutations. Additionally the sweat test that is administered outside of an approved CF Clinic is not the same sweat test that is administered at an approved CF Clinic by a trained technician.

Your son needs to be seen at an Approved Cystic Fibrosis Clinic and he needs to have a FULL CYSTIC FIBROSIS SEQUENCING, for all known mutations done.

Bill

Bill,

Hunter is being seen at Children's National Medical Center in DC. It is a an Accredited CF Clinic. He is seen by Dr Hollis Chaney she is amazing. He did not have the newborn screen since it was not available when he was born in 1998. He had an Ambry CF Full Panel done in 2013.

Jset,
My son Hunter goes to a CF Clinic every 2 months. He does have and do the airway clearance vest 2x daily, along with HyperTonic Saline Solution. He does nebulizer treatments of Atrovent PRN. He had his tonsil/adenoids removed when he was 10 -that's when they changed his original dx from Tracheomalacia to Tracheobronchomalacia with Innominate Artery Compression -which was found doing a sedated flexible and rigid bronchoscope.

They have not put him on enzymes -what would change that?

Are there others with No Mutations that have 7T/7T poly T variant? I see only 10 listed on the John Hopkins date base. Any others on here with CF/CRMS with any type of malacia?

Colleen
mother to Dominick (17) Hunter (15 CRMS, Tracheobronchomalacia, Innominate Artery Compression) & Jennifer (14)

 

[jshet]

Colleen, enzymes would be used if he is pancreatic insufficient which is found with a test done from a bowl movement sample. Typically if they are pancreatic insufficient, they have stools that are fatty, loose, leave an oil ring around the toilet when they flush, smell terribly and are hard to flush away. This causes a severe problem with gaining and maintaining a healthy weight.

how is his weight, is he on the growth chart?

 

[kyeev]

Bill is right about the full sequence scan.
That will pick up all possible mutations.
The Ambry CF Full Panel picks up about 100 mutations out of the possible 1800.

I will try to explain about 7T/7T.
7T is normal. So the result you've got is just reporting that at that particular site along the CF gene there is NO CF mutation.
If it came back as 5T/7T, that would be mean the 5T mutation was present.
So you can dismiss 7T/7T from your thoughts.

 

[Printer]

huntersmom:

Thank you for your reply. As I said, I am not an expert but in my opinion, you are doing everything correctly. The only thing that I could suggest would be getting a second opinion with a CF Specialist in another Approved CF Clinic.

Bill

 

[Beccamom]

Has your child been tested for Primary Ciliary Dyskinesia? This has similar lungs issues and even treatment to CF?

 

[HuntersmomTBM]

Colleen, enzymes would be used if he is pancreatic insufficient which is found with a test done from a bowl movement sample. Typically if they are pancreatic insufficient, they have stools that are fatty, loose, leave an oil ring around the toilet when they flush, smell terribly and are hard to flush away. This causes a severe problem with gaining and maintaining a healthy weight.

how is his weight, is he on the growth chart?

Jshet,
Hunter had Failure to Thrive as a child. But is doing ok on weight recently. We add extra calories all the time such as Peanut Butter Milkshakes and Chips. He also has trouble growing taller. He has never had big growth spurts like most young boys/teenagers have. He is about to be 16, 5'5" 116lbs. His brother is about to be 18, 5'11" 180. Big difference. Hunter looked frail until he was 10. When you held his hand you felt like you were going to break it. But he is stronger now.

Hunter will not let me see his poop (yes I've asked several times). But I do know they are hard to flush away (we have a new toilet that flushes stronger than the average and he uses that one all the time.) I will try to encourage him to let me see his poop.

Colleen

 

[HuntersmomTBM]

Beccamom,
No he has never been tested for PCD, I have heard of it before. With Tracheobronchomalacia sedation can be risky so they tend to do less sedation tests.
Colleen