Blog · February 28, 2017

Rare Disease Day 2017

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, you realize that the only person who is going to research and understand your child’s condition is you. You will have to educate the doctors. You will have to reach out and find other families with the same condition and ask specific questions.

My son Nicky has an extremely rare genetic disorder called Epidermolysis Bullosa (EB). He has the Recessive Dystrophic form, and the Generalized Severe subtype (formerly known as Hallopeau-Siemens). There are about 135 people in the United States diagnosed with this disorder with this same form and subtype. When he was born all they did is give me a piece of paper with the description of all the forms of EB as an effort to be useful to me, because the only referral I got was to a Dermatologist that was only mildly knowledgeable about EB. There were no research trials, no further treatment of any kind. No pills, medications or hopes to be had.

Over the years Nicky was followed by Stanford once I found them. I didn’t take him there very often because it’s not like they could do anything other than check wounds for infections and the like. Nicky was never followed by another Dermatologist per se. I am always asked which Dermatologist Nicky sees and while I heard there is actually one at CHLA now, I find hard to articulate why I don’t take him there or to anyone else. I guess part of me feels guilty, but the truth is that there is no one anywhere who knows more about Nicky than I do. Not only I know Nicky’s wounds like nothing else (including how they look when they are infected etc), but I have had to do my own research and learn everything about this disorder by myself for so many years, I’ve felt that anytime I’ve taken him to a new Dermatologist I ended up teaching them and not getting anything useful back. I am the one following him and developing a treatment plan. I’m the only one monitoring his progress. Aside the Hematologist at CHLA, who has been a God sent, I am Nicky’s go-to for everything. I am the one making the calls to make sure he gets everything he needs. Having said that, I am fortunate enough that the CHLA team gives Nicky a once-over bath yearly (we shoot for twice a year, but, you know… insurance…) to check for anything and everything that might be worrisome and then I re-wrap him the way he likes it.

Often friends tell me how lucky Nicky is to have me. I never thought about it that way, but I am starting to realize that my son has exactly the right person following him: someone who had spent years taking care of him, advocating for him, motivated to learn everything there is to know about his disorder; someone willing to ask question who loved him unconditionally.

My son’s disability has changed me immeasurably. I still have hope in my heart, because he deserves a cure.

Here’s a handy chart that depicts some rare disease facts, courtesy of the Mesothelioma Cancer Alliance (click for bigger version)

Love & Light,