Living with Cysitic Fibrosis
gregsgurl81304
member
Hi Ladies,
I hope all of you are doing well. Unfortunately for us I have been absent for a while due to us receiving devastating news in regards to Mallory. Overall she is doing wonderful, but her newborn screening came back abnormal with two mutation for Cystic Fibrosis. My husband and I have known all a long that we were both carriers of the most common mutation, and our chances of having a baby born with the genetic disorder was 1 in 4. We beat the odds with our son and never thought in a million years that our second child would be diagnosed, so when her screening came back abnormal I was not alarmed. I just assumed it would be like last time, have the sweat test done and get a false positive.
Well we had the sweat test done and met with the genetics counselor. Before the results were in the counselor informed us that Mallory's test will be positive just by looking at her previous test and having two of the same mutations. Of course by that point I was bawling, worried and scared for my sweet baby girl, then the test came in to confirm my fears.
We have a crazy ride ahead of us, and at this point all I can do is educate myself as much as possible about her condition. She has an appointment tomorrow with the pediatric cardiopulmonologist at the Cystic Fibrosis center in Oklahoma city to start her treatment. As of right now she will starting with a digestive enzyme that she will have to take before every meal she eats to help her pancreas send the right signals to keep the good nutrients and get rid of the waste. At this point it looks like her pancreas is working to where she is gaining weight, but at the same time she is also disposing more than what she should be of the healthy nutrients. Eventually, without the digestive enzyme she would stop growing and basically starve where her body would just get rid of everything that she eats and not store anything.
She will have to be suctioned to clear out the mucous of her lungs and digestive system that she will not be able to break up. Not being able to break up the mucous scares me and I pray that the lord with allow me to keep my intuition and my ears open for when we sleep, just incase she is having trouble and I don't hear her.
Our main goal for now is to start the treatment and focus on keeping her from getting as few pneumonia's as possible to keep from doing damage to her lungs. She will have to see the specialist once a month for the first 6 months, then once every 2 months until a year old, and once every 3 months after that. All her doctors will be in Oklahoma City for now, but where the drive is 2 1/2 hours away, the military will be moving us very soon to be with in an hours distance of the nearest CF center especially in emergency situations. So on top of her diagnosis, and dr's appt. we are going to have to get our house ready to sell and move with in the next couple months.
So this is our story for the time being and I will keep you all updated on how Mallory is doing as she grows. If any of you have any experience of living with CF, advice, or help point me in the right direction for support groups, I would greatly appreciate it.
TIA for all of your support.
Re: Living with Cysitic Fibrosis
BFP 3.8.16 EDD 11.20.16
Me: 33, HSG & b/w normal; partial septate uterus DH: 33, SA good but low morphology (3%)
Started trying to make a baby Apr'12 Aug'13 DX: Unexplained Infertility
Sept'13: 50mg Clomid + IUI #1 (13m + 11m post wash) CDs 11&12 + 200mg progesterone 3x daily = BFP! Beta 16dpIUI = 391 EDD 6.14.14 Delivered 6.13.14
Baby #1: expected June 2014
Married DH 7/30/11
CSC arrived 5/7/12
CHC arrived 6/2/14
Thank you all for your love, prayers and support. It's comforting to know that I'm not alone and that there are many people out there are living with this disease and are living full lives. Thank you for suggesting others that I can contact, and providing links that I can go to for information. This is exactly what I needed. Getting the results is all so sudden and I am getting so much information all at once from doctors that it's so hard to retain all the information. So thank you again.