While Raising Two Children with Rare Diseases, Mom Perseveres with Mastocytosis

When you become a mom, you have this vision of what life is going to be like. There’s the regular worries about feeding, sleepless nights of wondering what they will look like and of course that saying “as long as the baby is healthy.” I remember that moment when my son was born: the nurses and doctors started whispering, and I knew something was wrong. I remember that feeling of panic.

Our son was born with a rare skin condition called Aplasia Cutis, where he was missing a large part of skin on the back of his head. At first it was overwhelming, going through all the tests and keeping Tao’s skin sterile to prevent infection, but our son Tao is now a happy, healthy nine year old. It wasn’t until our daughter, Sadie, was born that we realized just how lucky we were six years prior.

Sadie has a rare eye condition called cone-rod dysfunction. It sounds simple enough now, but the journey to get to where we are today wasn’t an easy road. Sadie was born completely normal; unlike Tao, her condition was not an obvious one. Sadie has had a long road of health issues that still really have no explanation. Sadie’s eye condition causes her to be hypersensitive to sunlight, and it causes her extreme pain. Sadie spends a lot of time indoors with the blinds closed, especailly during the winter months. Her road to diagnosis is much like many patients with a rare disease. Sadie has endured so many tests that she does not know life any different.

Our daughter is with Ocular Genetics, Molecular and Clincal Gentics at our local Childrens Hospital. She is also with five other departments, and everyone is so happy to hear that our son, Tao, only has the Aplasia Cutis and is doing great. So here I was raising four kids, two of which have rare diseases, and suddenly our lives were given another twist: I was diagnosed with a rare life-threatening Mast Cell disease called mastocytosis. Suddenly that invincible “Mommy feeling” was gone, and I was sitting in the Cancer Center, getting bone marrow biopsies, MRIs, CT scans and scopes— tests I have heartbreakingly watched my son and daughter go through.

I found myself not only organizing my daughter’s mountain of appointments, but I was coordinating my own. I have learned that my family is strong, and we can overcome anything. It certainly isn’t an easy road, and we didn’t choose any of this, but we are doing OK— and that is the real blessing. I have learned that not everyone will understand what our journey is like, but the people that are willing to understand, will. I have learned that I need to be strong for my children. I don’t know what the future holds for my family, but whatever it has in store for us, we are ready to face it head on as a family with many people by our side. Never lose hope.