Really CF?

[AceZar8910]

Our daughter, Azara Reanne was born August 19th of this year and her newborn screen came back on August 31st, and we got a call from our doctors office telling us that she had a slightly elevated level and that we needed to go down to St. Louis to the Children's Hospital for a sweat test. When we got there they pretty much told us they did not expect her to come out anything else but a carrier just because they had already found DF508 mutation and her newborn screening was on borderline. After her sweat test they came back and told us it was 102. Which is positive for CF obviously, but I am so confused. She has no signs what so ever of CF she is going on 7wks thriving just fine the only sign of CF she has is salty sweat & my husband has that as well. Is there anyway she could still just be a carrier? They just did a blood test on other mutations, and they haven't found anything besides the DF508

 

[Ratatosk]

Cfers are born with normal lungs. Ds' baseline at age 9 is still no cough. Eventually with the extra thick mucus, infections the lungs will be affected. Is she pancreatic sufficient? Able to digest fats and gain weight?

 

[AceZar8910]

They haven't been able to tell yet because she hasn't had a stool while we were at the office yet. They put her on enzymes right off and she was doing better without them so we took her off. She weighed 6lbs 12oz at birth and is now up to 9lbs 8oz as of last week at our monthly visit

 

[Printer]

I may be repeating what your CF Doctor told you. There are more than 1800 known mutations that, in pairs (2) will cause CF. The screening at the hospital is usually testing for the most common mutations, about 250. Delta F508 is the most common mutation found in CF patients. There are more than 1550 mutations for which your child has not been tested. Until there is more extensive gene testing you will not know the second mutation. In the mean time you should treat your daughter as diagnosed. That includes the medication (enzymes) as Rx. CF is not a headcold that you can treat with chicken soup.

I was dx at age 47. One man out here was dx at age 70. I strongly suggest that your husband have a sweat test at the earliest possible opportunity. Undiagnosed CF can be a killer, literally.

Bill

 

[Aboveallislove]

Well said Bill. Are the doctors ordering the more extensive testing for all the mutations? I hope so because then you will know if the other mutation is one which could benefit from a new drug called Kalydeco. (She's still too young for that but it will be so wonderful to have that knowledge for when she is 2ish so she can start!).

Also, you mention enzymes. Did the doctors also prescribe Alburterol and percussion (taps)? And vitamins? I know it is overwhelming but these things will all keep your precious baby as healthy as can be until there is a "cure" which is so close. Oh, and I absolutely agree with Bill re your husband being tested. Many of the mutations are less "severe" so the diagnosis could actually come pretty late in life. Note though that less "severe" doesn't mean less serious--all those treatments are of the utmost importance.

I am so sorry for what you are going through. We went through it three years ago and I know how scared, uncertain, overwhelmed and exhausted you are. Sending you hugs and prayers.

 

[Ratatosk]

I can understand the denial aspect -- wondering if it's really CF. My son was diagnosed shortly after he was born, due to a bowel obstruction. They drew blood for genetic testing and those tests came back inconclusive; however, the local neonatolgist had also suspected CF and ordered genetic testing thru Mayo. Results after 6 days indicated CF. Then a few weeks later someone decided to conduct a sweat test at the accreditted CF center we were at and it came back as a normal 32. So dealing with a new diagnosis, getting conflicting test results, plus having a child with no "typical" (what WE thought was typical) cf symptoms -- coughing, wheezing, just digestive. We always had doubts in the back of our minds that DS really DID have cf.

We knew he needed enzymes based on the bowel obstruction due to meconium illeus. We did CPT and nebs 4 times a day to keep his lungs clear, constantly thinking -- at least when someone comes back and tells us it's all a big mistake he'll have the healthiest lungs around. Unfortunately at age 3 months DS cultured pseudomonas, a common CF bug, so we pretty much knew that he had CF.

As for the enzyme issue. Depending upon the other mutation she has -- encouraging more extensive testing here -- she may or may not be pancreatic insufficient or may have some sufficiency. They'll need to do a fecal fat test to know for sure. And while she's gaining without her enzymes, the doctors will also be able to tell you if she's gaining enough and if her bmi is adequate. If you're breastfeeding, it's more easily digestible. So it could be once she starts eating regular foods, that she may end up needing enzymes.

 

[Aboveallislove]

Ratatosk,
I can't remember how old your little one is--I want to say still a toddler, but something I thought of based on what you wrote about re SC. This study:
I don't think you are looking at the study I'm thinking of. here is the link:
http://clinicaltrials.gov/ct2/show/N...vx-770&rank=19

It is a phase 2 just posted a week or two ago. The inclusion criteria are:


Clinical evidence of residual CFTR function based on any 1 of the following: 1)Clinically documented residual exocrine pancreatic function, 2)Sweat chloride value ≤80 mmol/L at screening, or 3) Age of diagnosis ≥12 years and at least 1 copy of a CFTR mutation associated with residual CFTR function or defective mRNA splicing

Given the inclusion criteria include SC <80, I wonder if your child would qualify. Yes, he has ddf508 and not a residual functioning mutation, BUT the criteria is written 1, 2, OR 3 and 2 is SC less than 80. I truly think Vertex wrote this criteria to be a broad n=1 study. It is open to those 12 and older. If not old enough now, something to consider for future too, while we await a combo.

 

[AceZar8910]

Right now she just was told by her doctors to have extra salt each feeding and CPT once daily. They told us at the first appointment that we would start giving her vitamins at the next appointment, and then at the next appointment they told us she was doing very well and didn't need the vitamins. They took a heel prick at this last appointment, and are testing the next set of mutations now. We are just waiting to hear something if anything. Sounds like a very lengthy worrying process! We will just look forward to knowing more, so we can better help and understand what she will be dealing with.

 

[Ratatosk]

Ds is 9. I suspect if tested today, it'd be elevated. He swats a lot of salt in the summer. His favorite purple baseball cap is white with salt stains.

 

[Aboveallislove]

Well it does say at screening! Just a thought... He might be 12 by time later phase 3 are on going...but by then combo probably also available to dd508f