When Lillian and Matilda were born in 2015 my husband and I already knew about Cystic Fibrosis, since our nephew had been diagnosed with the disease at birth 4 years earlier. We weren't really thinking about it, though. We were thinking about finally having amazing tiny twin daughters after years of infertiflity. At just over 4lbs each at birth, they were, surprisingly, healthy and strong and came home from the hospital after just 5 days.
We were just starting to settle into our new normal when we got the call that no parent wants to receive. One of our daughters, Matilda, likely had Cystic Fibrosis. We were shocked! We knew about this disease. We knew I was a carrier. We had undergone IVF treatments with genetic testing to get pregnant. We believed that my husband was not a carrier, so CF hadn't even been on our radar as something of concern.
What we found out in the following weeks is something that so many families learn the hard way - that even when testing, only the most common mutations are tested for. That my husband *was* a carrier of a rare mutation and that he had passed that mutation along to one of our daughters. That I had passed my more common mutation to her as well. That she did, indeed, in spite of our education and understanding and caution, have Cystic Fibrosis.
Those first days and months are a blur. Trying to care for twin newborns is stressful and emotional enough without the addition of a genetic disease that requires doctors appointments, treatments daily, extra care, extra caution, and most of all, so so much extra fear.
At two months Matilda cultured pseudomonas, a nasty bacteria that required us to increase her treatments to 4 a day with inhaled antibiotics along with oral antibiotocs. This was heartbreaking and exhausting. And we had another 2-month old who also needed our love and attention. The reality hit hard then, as it has at many other times since.
From the moment she could smile, Matilda's smile was a beacon of light. From the moment she could laugh, her laugh could fill the house with joy, and from the moment she could walk, she was always on the go. The girl has spunk and a strong-will. She's salty, in personality and when you lick her skin! She is fierce in her love and fierce when she's angry and I hope she uses that ferocity to fight this disease with all she's got for all of her hopefully long long life!
I worry about her. I worry about how her disease affects her twin. I worry about them each getting everything they need. And in the darkest corners of my mind I worry about how Lillian will go on if Matilda loses her battle with CF when she is younger than I want to imagine.
Today Matilda is three and a half years old. Her rarer mutation qualitified her for the amazing drug Kalydeco when she turned 2. She is, in spite of her disease, a healthy 3-year old. I am so grateful to the Cystic Fibrosis Foundation for this. I thank them for newborn screenings. I thank them for better treatments. I thank them for dedicated care teams. I thank them for Kalydeco.
In spite of Matilda's health, I know this is not enough. Until there is a cure, it's not enough. I live in fear of her health changing slowly or suddenly and of the silent damage in her lungs. I live in fear of the drugs working less well. I live in fear of the cure being just slightly out of reach.
There are others who aren't as lucky as Matilda. There are still children who don't make it to adulthood and adults who die from this terrible disease way too young. I see these stories all the time. There are so many parents waiting for the treatment that will help their child. There are so many people who need a cure.
This is why I fundraise for the Cystic Fibrosis Foundation. This is why I share Matilda's story. This is why I hope that you can help. Please give. Bring more tomorrows to the 30,000 people in America living with Cystic Fibrosis. Help keep that smile on Matilda's face for a long, long time.