14-year old just diagnosed

F

fel

Guest
Hi,

I am basically wondering if there are any like my 14-year old son on this board. He had a positive sodium conductivity test (87) on Tues., and came back positive for CF today from a Sweat Chloride test at our local CF center (Children's Hospital of Pennsylvania). His scores today were 76 and 70.

The reason for the test was as a rule-out owing to nasal polyps and sinusitis. He does not seem to have any digestion issues, and is a normal height and weight, given his short skinny parents. He is a big mouth breather because of chronic rhinitis, and has slight asthma (especially when cold). He does not take any meds for asthma because he never felt that they helped. He has no cough, has never had pneumonia and until this week when he was diagnosed with a sinus infection, he never even had antibiotics. He was not sick a lot when young, except for asthma issues. His asthma mostly went away when he was about 5, and we have not used his rescue inhaler for about 10 years.

The CF nurse seemed very surprised by this profile. Are there others out there like my son? We have no genetics testing yet since he was just diagnosed today. In profile he is very much like me (his mom). If he has CF, could I have it too?

Thank you,
Fel
 
B

Beccamom

New member
I was diagnosed because of my children's testing. They were each found to be CF carriers each having a different mutation. They have the same mom and dad. My doctor and I discussed it and I had genetic testing followed by sweat test. I am now diagnosed with and treated for CF. My daughter is genetically a carrier, but treated for CF due to symptoms. Both of us responded really well to the treatment. My worst symptom is my sinuses. My daughter's lung function FEV1 was 50% before mucus clearance vest, aggressive antibiotics and hypertonic saline nebulizer. She is off all of her old asthma meds and lung function FEV1 goes between 90 and 100% for the past year. She was tested for CF at ages 1, 4, and 11 she was finally treated for CF. I was diagnosed and began treatment at 35.
fel said:
Hi,

I am basically wondering if there are any like my 14-year old son on this board. He had a positive sodium conductivity test (87) on Tues., and came back positive for CF today from a Sweat Chloride test at our local CF center (Children's Hospital of Pennsylvania). His scores today were 76 and 70.

The reason for the test was as a rule-out owing to nasal polyps and sinusitis. He does not seem to have any digestion issues, and is a normal height and weight, given his short skinny parents. He is a big mouth breather because of chronic rhinitis, and has slight asthma (especially when cold). He does not take any meds for asthma because he never felt that they helped. He has no cough, has never had pneumonia and until this week when he was diagnosed with a sinus infection, he never even had antibiotics. He was not sick a lot when young, except for asthma issues. His asthma mostly went away when he was about 5, and we have not used his rescue inhaler for about 10 years.

The CF nurse seemed very surprised by this profile. Are there others out there like my son? We have no genetics testing yet since he was just diagnosed today. In profile he is very much like me (his mom). If he has CF, could I have it too?

Thank you,
Fel
Click to expand...
 
D

Doglover

New member
My daughter was diagnosed at 18 also due to sinus polyps. To this day she has never had a respiratory infection and has only been on anti biotics once and that was way back in kindergarten for an ear infection. From day one she has never been below the 90th percentile in either height or weight. They tested her for pancreatic insufficiency and found she was severely pancreatic insufficient but some how her body worked around it. Her two mutations are both known to cause classic CF symptoms, but she really has none. She is away at college doing great, but still has a hard time accepting the diagnosis since she really has no symptoms.
 
F

fel

Guest
Thanks for the replies so far. They are very helpful to me and my husband as we try to understand what to expect. Any further stories would be great as well.

Fel
 
F

fel

Guest
My other son age 17.5 was also just diagnosed via a Sweat Chloride test. My scores came out at 37, so I was not diagnosed.
 
K

kittenface

Member
Hi Fel, I'm a 48 year old woman, diagnosed at 37. My gene combo is D508 & R711H. My lung function is 92%. I started PEP therapy this year and have been on and off antibiotics for the last year. I've had 2 healthy children that are both carriers (no CF) No issues with my digestion. When I was younger I had lots of lung infections, underweight etc. but back then didn't do a lot testing. I'm glad I was properly diagnosed so I can receive the proper treatment. I live in Canada.
 
C

CrisDopher

New member
Doglover, it's great to hear she is relatively symptom-free. That won't last forever. But perhaps it can last a long time!

Fel and Doglover:

One thing EXTREMLY IMPORTANT: do NOT allow your children to meet up with or be around other people with CF in any way, shape, or form. When going to clinic, they should wear a mask at all times (except for doing PFTs of course) and wash/sanitize hands many times. They MUST do everything they possibly can to avoid picking up on the CF bugs, which are what eventually spiral us downhill. Teach them that it's ok to reach out online, but they are to treat the rest of the CF crowd as lepers in real life. NO CONTACT. I cannot stress this enough!

If you're wondering why, it is a question of cross-infection. The studies have been done and repeated and there's really no question anymore that cross-infection among CF patients represents one of the greatest hazards to our health.
 
S

sdeuber

Guest
Hi Fel
your son's story reads like mine - except mine was 30 years ago and I did not have pro-active doctors and not a mother like you. I was not diagnosed till about 10 years ago by my fertility specialist since I could not get pregnant. it all started with sinus infections when I was 14, by 2005 I had 6 sinus surgeries (polyps, deviated septum, constant infections and a constant cough). I do not have any of the digestive problems or pancreatic issues, I have no diabetes, etc. I was genetically tested and one of my genes is a very "mild" one (2789+5G -> A) and the other more aggressive (G551D). A classic a case of adult CF as I do not have all the typical symptoms.
Good news is I am now 48, have two wonderful (adopted) kids, I am in better shape and health that I ever was. I am active and do lots of sports (which probably "saved" my life until I was diagnosed), I am very proactive and yes, I take a nap when I feel that I am not 100%. I travel for work a lot, yes a pain to bring that nebulizer and all the meds. Your son will do fine. Have him tested for the specific gene mutations so you and your doctors can understand all the details. For example I take Kalydeco (my wonder drug) as it specifically works with G551D.
One last note: yes - as one other mom wrote - it takes a little while to "accept" it; why "me"? and not my brother? What is I catch pneumonia? What happens to my kids if my lungs give up some day?
I learned to turn it around. I can still have a very happy and exciting life - getting enough sleep and being active is key. Yes, I do party once in a while till 2 am in the morning but that's the exception.
Good luck!
Stefanie from CA
 
F

fel

Guest
Thank you so much for your stories.

CrisDopher: I have heard that CFers cannot get together, but I did not know about wearing masks. The boys are going to our CF center for the first time on Monday. Are these the surgeon type masks? Also -- I assume the two brothers are allowed to get together, even when they are older, right? I mean that is our whole family.

Megan: Thank you. Could I have my 14 year old email you?

Sdeuber: it is so great to hear you story. I hope we will find our sons have a mild variant. But, we are Ashkenazi Jewish so I am concerned they will have the standard (bad) variant associated with that group.
 
J

JustaCFmom

New member
My story is similar. My 15 yr old daughter started coughing out of the blue (no previous history of lung or sinus problems) and it took us over a year to get a diagnosis. We are Ashkanazim and have one bad mutation and one "mild" mutation that means the kids (2 more got diagnosed afterwards) are pancreatic sufficient and don't have to cope with the digestive challenges. My oldest CF boy is finding the diagnosis challenging (he is 21). All of them have over 100% pred. FEV1.

I will mention we haven't done great with the sweat test scene. I scored over 70 and another child was over 70. We are both carriers. My 4 yr. seems to have asthma and, even though her genetics said she wasn't even a carrier, the pulmonologist we went to had us repeat the sweat test. That came out over 70 and we repeated the genetics which reconfirmed the non-carrier status. I have a lot of questions about this at our next appt.

I will say that with the proper treatment my kids are doing great!

Good luck.
 
F

fel

Guest
That is very interesting about the sweat tests. My understanding is that a positive sweat chloride (measured twice) is definitive -- if you have a positive sweat test than you have CF...
 
J

John O

Guest
Hi Fel!!!!!!!

Well I have a similar story but I actually passed my sweat test twice. I was diagnosed via the throat swab for the CF genes. Your son will live a wonderful life with this its all about attitude and health commitment. I am a 28 year old living everyday with this diseas. I have a wonderful wife and now a daughter who is 6 months old. WE did IVF for our pregnancy. I have a blog as well and here is my detailed diagnosis. http://livingmydreamswithcf.blogspot.com/

My CF diagnosis is not the typical diagnosis! Most people who are diagnosed with CF are diagnosed at birth or relatively shortly after. For me, my diagnosis took years to discover. When I was a little guy I would get sick often the bronchitis like coughs that would never go away. I would have nights of coughing endlessly that would prevent me from going to school!! As for my weight, I was always thin and could hardly ever gain any weight. Hmm this all sounds like the typical CF symptoms.


My parents would take me to doctor appointment after doctor appointment. The doctors just thought I was sick often and blamed other things like allergies and asthma. At one of these appointments the doctor told my parents to have me tested for cystic fibrosis. So at an early age I had a sweat test done. Honestly, I am unsure of how old I was when I had my first sweat test. The results came back from the test and indicated that my sweat test was normal. No elevated salt levels. The doctor believed they ruled out cystic fibrosis by this test.


As the years went on I still was having these battles of bronchitis, endless coughing, and poor weight gain. It was in June of 1998, when my allergist said maybe we should have him tested for cystic fibrosis again. This was really the first time I had ever heard of this disease. I did not know what to think. I never thought anything of this because I had no idea what this disease really was or how I would end up with it. My parents reassured me that I had been tested for CF when I was very young and the test revealed that I did not have CF.


I had my second sweat test and again the results showed that I in fact did not have elevated salt levels and CF was ruled out. So we talked about the results with the allergist and my mom mentioned that her cousins did have CF. On my dad’s side of the family no one had ever been tested for CF.


The next step in this process was for me to have my cheek swabbed to gather DNA to have it tested for the CF genes. This test must have been a relatively new test because I was never swabbed as a baby. The cheek swab was sent to the lab and the results came back and revealed that I was positive for CF. My geneotype is not very common at all. I have the genes DF508 and 3849+10kb-C-T. These are the same genes that mom’s cousins have as well. On a side note I have three brothers they were all tested after my diagnosis and they are carriers of the disease. They all have the 3849+10kb-C-T gene pretty strange. So just like the textbook says my parents had a 1 in 4 chance of having a child with CF and they did.


I remember the day when my family received this news. Again, I didn’t know what to think. I had no idea what was going to be in my future with having discovered this disease at the age of 13. After the diagnosis my dad was determined to find a great doctor who was specialized in CF. Let me tell you he found the best doctor in my book!!! (Thanks dad for all your hard work finding him!!) I still see the same doctor I have been seeing since I was diagnosed.


I had my first appointment with my CF doctor and it was probably the longest doctor appointment I can ever remember. He explained everything to me and my family and made us feel reassured. I then started medicines and from that day on I have felt much better health wise. As far as me being thin, we decided to try enzymes. I was almost pancreatic sufficient but the doctor wanted to see if I could gain weight by taking them. He was right and I started packing on the pounds.


So that is my CF diagnosis it is not the average story in any way but I am glad we finally have an answer as to why I was feeling sick all the time.


On a side note I have three brothers they were all tested after my diagnosis and they are carriers of the disease. They all have the 3849+10kb-C-T gene pretty strange. So just like the textbook says my parents had a 1 in 4 chance of having a child with CF and they did!

John
 
F

fel

Guest
Hi John,

Very interesting story. I do suspect my sons have at least one 3849+10kb C->T. My older son was checked out and has his Vas Deferens. My younger one has not been checked yet. I have reviewed lots of journal articles (I am a researcher, but not in this field), and found that the mutation most likely to keep the Vas Deferens intact is that one. Plus, it is a common mutation for people of our background. However, we are still waiting for the real genetics results.

John -- were your parents ever tested. Is it possible one of them has two copies of 3849+10kb C->T?

Also -- have you looked into Kalydeco? I understand it may work with that mutation.

Best.
Fel


 
J

John O

Guest
Hi Fel,

I sent you a private message take a look when u get a chance.
 
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