More confused now than ever!

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brendagrhodes

Guest
My son (15) was tested for CF a little over a month ago because of reoccurring pneumonia. His pneumonia has always been treated with steriods and antibiotics and he has recovered quickly. He has never been hospitalized. When we sweat tested (at an accredited CF center at Texas Children's Hospital) he came back with a positive 60/62 result. He had a stool test and was found to be pancreatic sufficient. He had PFT'S and x-rays which both have shown to be symptomatic of CF. The doctors decided to do a second sweat test (at my son's request) and the numbers returned at 57/54. Because of the positive numbers the first time and high numbers the second time the doctors have decided to keep the diagnosis of CF. We had full panel genetic testing done (testing over 1000 mutations) but no mutations were found. The doctors said new mutations are being found out daily and maybe he has one that has not been discovered. Within the month he has had bronchitis again (treated again with antibiotics). He has also been throat cultured 2 times and they have found staph growing in his culture. The Dr's referred his case for research and he was accepted by Johns Hopkins into their research trials. We are still waiting to find out what will happen next. The doctors ordered a 3rd sweat test and a CT scan and results came back today. Sweat test was 44/44 and the doctor said the CT showed swollen airways. My son is currently being treated with Xopenex, Hypersal and accapella to keep his airways clear. Is this CF or not? What is your opinion? Has anyone else sweat tested multiple times and come up with different test results?
 
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Aboveallislove

Super Moderator
Dear Brenda
I'm so sorry for all that you are going through. The diagnosis is bad enough but then getting the hopes of it not being CF, but then having all the issues, must be so emotionally draining.
I don't know the answer re the sweat tests, but I gut would be given that he had 1 positive and 2 borderline and that he has all of the CF response, that he has CF, but a rare, as of yet, undiscovered mutation. Given, though, that he is pancreatic sufficient, it is likely a "less severe" mutation--I say "less severe" because it is still very serious, but there is likely more CFTR function than for other more severe mutations. Because of that, I would really push to try Kalydeco on your son. Kalydeco is only approved for 1 type of mutation, but is believed to work for those with some residual CFTR function. Vertex is starting trials on the drug for those who are pancreatic sufficient; or have a late diagnosis + a mutation believed to be helped; or those with a lower SC. Your son seems to fit all three cateogries even thought participants only need one (albeit without the mutation b/c they haven't found his yet.) I wouldn't wait, though, for the end of the study and would push the doctors to try it for 6 months and then retest SC. That will also give plenty of time to see if his lung issues are improving. I truly think from what you said that Kalydeco would have a great result.
 
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Printer

Active member
A FULL CF SEQUENCING is a scan for almost 2000 mutations not 1000. If 1000 was a typo, fine. If not go back to your APPROVER CF CENTER and ask your CF SPECIALIST to run a FULL CF SEQUENCING (for almost 2000 mutations).

Bill
 
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