What does having a “rare” member of the family means for our whole family? Rare means being scared. Nicky is 22 years old and I still check if he’s still breathing each and every morning. That magnitude of worry is overwhelming at times. I live his condition even though I do not have it. Our whole family does. Rare means that we have a lot of expenditures that the average family will never have. There will also be things, sometimes expensive things, that we purchase to try because we have hope in our hearts that something might make a difference. When it’s rare, nobody can say for sure what works and what doesn’t, and every patient is different. Rare means driving or flying far and wide to see Doctors that are at least familiar with the condition or meet other families. It’s disheartening when local Doctors, of any kind, refuseRead More →

Follow my blog with Bloglovin Rare Disease Day in February 28th this year! Nicky was featured on the Global Genes website back in 2014. As always, we are very open to share our story to gain awareness about Epidermolysis Bullosa. I can’t speak for other parents of kids with EB, let alone parents of kids with other disabilities, but I welcome questions about Nicky. I want to help shape the perception that anyone might have about people with disabilities. I want them to know there is no shame in asking questions. I would much rather explain Nicky’s unique challenges in a way that is positive instead of giving way to the silence and misconceptions. Yes, I am perfectly aware that Nicky is 21 and an adult, but he wants me to continue to speak for him because he feels comfortable that I have his best interest at heart and IRead More →

Nowadays, everytime I turn around, I hear something on the news on how the life of my child, once again, is an afterthought. The latest one is how the new tax plan passed unanimously by the GOP until the last minute didn’t have the ability to deduct medical expenses. Maybe, for most people, being able to deduct medical expenses is not an issue whatsoever, but I am glad that pressure from the disability community got them to open their eyes. The fight is not over, as there are other things at stake. By reducing revenue by at least $1.5 trillion and increasing the deficit, the “Tax Cuts and Jobs Act” increases the pressure to cut Social Security & Medicaid (programs the GOP stated are “next” on their agenda), which are critical to the lives of people with disabilities. Barf. I don’t normally engage in political discourse, even though I followRead More →

As parents, we always want to encourage our children to be able to stand up for themselves. Anytime I feel I may not be doing a good job at this considering how much I advocate for my Nicky, all I have to do is look at my healthy son, now 14 years old. He ROCKS! He’s totally willing and able to stand up for himself. He often asks me how to deal with so-and-so and comes home from school telling me how he successfully dealt with whatever situation he was confronted with. Nicky however, is a different story. Raising a child with a rare disease is profoundly confusing and complicated. With something like Epidermolysis Bullosa, we are forced to learn all about wound management, take crash courses in everything that has to do with their skin, and learn how to advocate for medical care, among becoming an insurance expert. MostRead More →

Today is the international day of Rare Diseases – of course Epidermolysis Bullosa being one of them, it hits close to home. There are about 7,000 rare diseases, affecting 30 million Americans, 300 million people worldwide, but only 5% have treatments, and far fewer have cures. Rare diseases often go undiagnosed, and while a diagnosis per se does not cure the condition, the fear of the unknown is greater. Even when you do get a diagnose, sometimes it’s hard anyways because patients seem to react very differently to treatments. Second guessing becomes a pastime. No one can prepare you for having a rare child. It’s a lonely place to be. A diagnosis will open doors and give you access to the people and resources you need to help take care of your child. But your child’s disease is rare, and before too long you realize the experts are rare themselves. So, youRead More →

I know this is not a popular stance, or maybe it is, but if living with a child (he may be 18 now, but he’s still my child and will always be-and he will always live with me!) with a rare form of Epidermolysis Bullosa has taught me, is that no matter how much a Doctor cares, sometimes he or she can be wrong. I read a book a few years ago about a local mother whose teenage daughter was diagnosed with a rare form of Brain Cancer, which is almost always incurable and impossible to detect before it becomes deadly. The Doctor did everything he could to treat her and by some miracle it looked as if the Cancer went into remission several months later. She trusted the Doctors blindly. Because Cancer is not exactly rare as a whole, unlike the hoops I had to jump to find information, she putRead More →