I Love Someone Rare

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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 I know him more than anyone else. He also knows that if I don’t know the answer, I will ask him. I hope to have the new book “Nicky talks” ready sometime in 2019.

One of the things about EB we make sure people know is that it’s not contagious. 80% of rare conditions are genetic, which means it requires an alteration in the DNA during conception for the disorder to occur. While there is one extremely rare form of EB that is autoimmune, called “Aquisita”, most forms of EB are inherited. They are either Dominant or Recessive.

Dominant means the parent has it and he or she has a 50/50 chance of giving it to their child, or it’s a fluke at conception.  Dominant forms of EB are all Simplex forms and Dominant Dystrophic.

Recessive (as it’s Nicky’s case) is when both parents are “carriers”, which means both parents carry the recessive gene and the baby only inherits the recessive genes, as if they only inherit one, they are simply carriers like their parents. Recessive forms of EB are all Junctional forms and Recessive Dystrophic.
You cannot “catch EB” from sharing toys or a drink and you don’t need to protect yourself or your healthy child from physical contact or being in close proximity of an EB patient.

When Nicky was little I wanted him to experience as normal a childhood as possible given the circumstances – from playing on a playground to go to preschool to go to public restaurants etc., but we always felt that “distance”. I mean… Preschool would not even take him.  Kids are supposed to be able to run and play… and it was hard for Nicky to witness kids running and falling and not getting hurt when he started kindergarten which is when he first realized he was different.

Typical humans outside of the special needs world have many choices. They can go to work and care for their families without encountering a medical emergency or need for medical intervention. We do not have such luxury. We must seek not only advice from Doctors, but from other parents and the rare disease community as a whole. If Nicky is doing as well as he his, is because of highly intelligent special needs moms who helped us avoid unnecessary trips to the ER. With their help I found out about how, for example, Diaper Rash Cream with 40% Zinc could get rid of infection and granulation tissue on my son’s G-tube site. With their help I found alternatives to medicine, the benefits of essential oils, or I found social events to attend so Nicky could meet others like him. I felt accepted, loved, understood, and supported in a world that doesn’t always love, accept, understand or support my child or our unique family.

Over the years I feel like I have amassed the knowledge of human skin that some doctors don’t even know. I keep waiting for an “honorary” dermatology diploma to show up in my mailbox, LOL. But what’s most important and I want people to understand is that the life of every child with a rare disease matters. A life matters to the one who is living it, it should certainly be considered one of those undeniable truths. You are alive, your life matters no matter what. We should have absolutely no say about what another’s life is worth. Nicky’s life matters to him and it matters to us as a family. We adore him.

There is always hope to be had, even in the darkest days. Nicky taught me that.

Love & Light,

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