CF Diagnosis

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. 

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.   


For those of you who read this and do not have a background on cystic fibrosis please visit http://www.cff.org/

9 comments:

  1. This comment has been removed by a blog administrator.

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  2. Thank you for sharing your story. My husband and I are both carriers for the CF gene, although we didn't find out until my son was born- thankfully without CF. Since you are so open, I'd love your opinion about whether CF carriers have an obligation to do IVF to ensure a healthy baby. We are really struggling with this issue, but we've also never known anyone personally with CF and are unaware of the daily challenges of living with the disease.
    Thank you,
    Melanie
    melanieseus@gmail.com

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    1. Hi Melanie,

      Thanks for reading my blog. I hope you read about our IVF cycle and how we did PGD and have a child who doesn't have CF? I am trying to find you on Facebook to see if I can chat with you about this? I will email you as well. FB profile pic has my daughters pic! Talk soon.

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  3. Hi John. I love reading your blog. My 3 year old son was diagnosed last year with CF, and has 3849+10Kb C>T, along with another uncommon splicing mutation. It would be great to chat on Facebook. Best wishes to you and your family, Lindsey

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    1. Lindsey I looked for you on FB. There is more than one of you out there with same last name. Any other way to distinguish you on FB? You will never find me on FB so best way to find on FB would be through you. Thanks.

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  4. Hi John, thanks for your reply. I'm Lindsey Hambleton Wakefield on Facebook, and I'm on the 3849 group.

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