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Infertility
Cystic Fibrosis?
Hello ladies - I'm looking for some help. I just heard the sad news that our friends precious baby girl (shes less than a month old) has been diagnosed with Cystic Fibrosis. I've read about it online, but I'm wondering if you ladies have had any experience with it, with yourselves or with people you know? I would just like to educate myself here.
Thanks so much.
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Re: Cystic Fibrosis?
CF is caused by a genetic disorder in which each parent is a carrier, and the genetic lottery meant they each contributed that gene defect to their daughter.
There are a multitude of genetic mutations for CF, so it can range from pretty mild to pretty severe. In all likelihood she'll have issues with overproduction of mucus in her lungs, which can increase the risk of infection. She may also have GI issues. Fertility may be compromised as well.
CF used to be a death sentence in the teens, but many people are living with it into their 20s, 30s, and beyond.
I'd suggest googling some CF support groups for more information. They're really good about providing information.
My DH has CF - he's 31. It sucks - so I'm not going to sugar coat it (and my Bio has more information).
The forums at cf2chat.com are a great resource. cysticfibrosis.com is another forum - but it's NMS.
The major complications are:
1. Lungs. Mucus buildup that leads to infection that leads to inflammation. Then it's just a circle from there. The key is to deal with mucus clearance - even if the baby doesn't seem to have lung involvement.
2. Pancreas/Digestive. A majority of CF pts are pancreatic insufficient (PI). They need to take digestive enzymes to digest food properly. Failure to thrive is a problem. Vitamin levels need monitoring due to malabsorption. Glucose tolerance needs to be monitored during illness/as they age to watch for CF related diabetes.
3. Infertility. This is why I'm here. Males are usually (98%+) missing the vas deferens. Females have issues with cerivical mucus making it harder to conceive. (I think there is a female CFer on this board).
The key is being proactive. The more they can prevent lung damage, the better it will be. They need to get to an accredited CF Center (cff.org has a list). They should start off with chest PT, and if she has PI, enzymes.
It's a pain in the a$$. It's also unpredictable (two patients can have the same mutations and completely different problems). It's expensive. It sucks.
DH and I are doing PGD to avoid passing CF to our children. Since they have a 25% chance of having a child with CF with each pregnancy, it might be something for them to consider as well.
This is where I scream from the rooftops - GET CARRIER TESTED! Do it now!
Like Gringa said, I have CF. Both of the boards miesl mentioned are great resources and I would highly recommend them.
miesl provided great info, and I just want to repeat what she said about being proactive - it is so important! Finding an accredited CF center should be their first step. These centers are trained by the CF foundation, and the doctors at a center will help your friend's family get on an appropriate treatment plan.
And, I'm so sorry for your friend's child's diagnosis. I'm sure it is very scarey. And please tell her, although all of the stuff on the internet make it sound like a diagnosis is all doom and gloom, every CFer is different, and most people do not suffer from every single complicaion you will read about.
The lungs is the key place that it seems to affect almost all of us, and it is usually the what causes us to be sick, unfortunately. We get frequent bronchitis and pneumonia, and simple colds can put us in the hospital. Most CFers' lungs are chronically infected with bacteria, and we have to spend HOURS every single day taking nebulized medications and doing physical therapy. And it is expensive. Even with insurance, I pay about $300 a month on copays, over the counter medications, and medical equipment.
HOWEVER, there are many, many CFers who live into their 40s, and 50s, and I know of some who made it to their 70s. Personally, even though I have been infected with Staph since my teens and deal with doing treatments, getting frequent lung (and sinus) infections, and cough all.the.time, I've only been in the hospital twice IN MY LIFE, and I've been able to go to college and graduate school, and I work full-time as an engineer now.
If you have anymore questions, please feel free to ask here or page me anytime!