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.
For those of you who read this and do not have a background on cystic fibrosis please visit http://www.cff.org/
Wow! Our stories are pretty similar! I too was tested (as a newborn) and was said to be CF free. I then spent my childhood going to allergists, ENTs, etc to figure out why I coughed so much. At 14 I was finally diagnosed, but I have double delta F508. Both my siblings are carriers. Crazy to have such similar experiences. If you care to read my story it is in my blog under the title where the tabs are. It is so rare to find people with such late diagnosis. How is your CF? I would say mine is pretty typical despite the late diagnosis.
ReplyDeleteI did read your CF diagnosis on your blog. It is really something what we had to go through until finally we were diagnosed. I hope that with today's new born screening many children will not have to endure our journneys. I plan to write a post about how my CF is in the near future but I will tell you a little about it.
DeleteSo since I have this odd gene 3849+10kb-C-T the doctor's say I have a mild case of CF. Every case of CF is different even for people with the same geneotype. But I would say I think I do have a milder case than most people and I feel pretty healthy.
I have NEVER been hospitalized for CF. Knocking on wood as I type this. I have had relatively stable PFT scores the last few years. FEV1 baseline is around 70. When I was younger it was higher in the 80s to 90s but things change. I do my vest twice a day and just recently started HTS which I love. As far as meds I take enzymes with every meal and have only ever done inhaled and oral antibiotics. I have cultured staph, pseudomonas aeruginosa, and that acinobacter bug. Thats my little summary more to come in a future post.
Thanks for stopping by!!!!
Glad your CF is well managed and it is awesome you have never been hospitalized! BTW I love hypertonic saline too and in fact, I am doing it now as I type this!
DeleteGood blog John. I was a late diagnosis too. Keep on bloggin!
ReplyDeletePeace,
Steph
Wow John reading this is soooo close to home. My son who is 23 now had the same thing happen to him. He had 4 "high negative" sweat tests. He was finally diagnosis at age 16 and and he has the exact same 2 forms as you. That was the excuse the docs gave us the rare for superceeds the worse one. His salt test results were always 56-58, where 60 was positive. Do you have a facebook page that maybe he could talk to you. He dosent like talking about it publicly, and he gets depressed sometimes and i think maybe if he talks to someone who has the exact thing maybe it would help. Usually he is good, but he has bad days. He went to counseling when he was first diagnosed. You can add me on facebook dfeather69@yahoo.com
ReplyDeleteCrazy that so recently as the 90s CF could escape diagnosis. My hubby is 44 (I know! Miracle age for a CFer!) and his mother and doctor spent years writing lists attempting to eliminate food allergies--I still have all her notes in his baby book. He too was 13 when finally diagnosed, and was lucky enough to live close to Johns Hopkins and has been treated by their excellent CF clinic ever since.
ReplyDelete