Let's get down to the bare bones here! My name is Sandi, and I am living with a genetic terminal disease known as, Cystic Fibrosis!
Let's make it easy, with not too much medical jargon. I mean lets face it, unless you're in or around a medical environment who knows the correct medical terms?
It begins with a Cystic Fibrosis Transmembrane Conductance Regulator (CFTR). CFTR controls the protein function of chloride in and out of our cells, which is important for the salt and water balance in our lungs or pancreas. Changes in the CFTR gene can affect the structure of the CFTR. The most common CFTR mutation leads to the lack of amino acid at the "508" in our DNA structure. This is known as the Delta F508 CF Mutations.
In order to have CF, both parents must have one defected gene mutation, which will not affect them! Only having one gene defect will not create CF and people are able to lead healthy, normal lives, never knowing they carry the CF gene. We are comprised of half of each parents DNA, so we get both of the gene mutations, and today we have Cystic Fibrosis!
In order to have CF, both parents must have one defected gene mutation, which will not affect them! Only having one gene defect will not create CF and people are able to lead healthy, normal lives, never knowing they carry the CF gene. We are comprised of half of each parents DNA, so we get both of the gene mutations, and today we have Cystic Fibrosis!
Most common Cystics have the Delta F508 and most CFers carry double DF508. Meaning both gene from mother and father are DF508. Thanks to my fathers Italian heritage (lmao I love being Italian, and my father, bus I love picking on him too) I was blessed with one DF508 from my mother and a very RARE 2nd mutation from my father. Which is the L1077P.
I imagine it would be like saying, I know how to make chocolate chip cookies 10 ways, all with a few ingredient changes. With the outcome still being a chocolate chip cookie. However the process is different.
Thankfully, we have come a long way with medical technologies. They have blood tests now, unlike when I was born, 26 years ago! This tests can check and tell if you and your partner have the CF gene.
Please help limit the amount of babies born with this disease, GET THE TEST DONE! It is NOT included inthee typical blood/disease screening when you are pregnant, just ask your doctor to add it. So you are certain to check for the CF gene too! Even if you've never heard about it, and it does not run in your family!
It's that simple, to know and lower the chances of more babies being born with CF! At the moment, we have new medications, tests, treatments, and technology, helping towards a cure. However, we are still very far from finding that cure!
Of course, every person's situation is different. Look around us, CF is sad, the most common genetically terminal, diseases in the US at the moment. Yet not many people know abou it!
So that's where I came in. I smile through the pain, the meds and the nebs. The scheduled treatments and hospitalizations, to help you! It may only be for CF education, inspiration, an ear to bend, or another Cystic to understand. No matter the circumstances, I will be here to answer, help, or educate anyone on Cystic Fibrosis!
