What Having a Rare Condition Means…

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, refuse to see the patient because they don’t know anything about the condition and can’t (or won’t) take the time to learn about it to accept you as a patient so they have to refer you out to a larger city or even out of state.

Nicky’s Blood Blister on his left foot

Rare means there are no answers. I am constantly searching, googling, asking, trying and second-guessing everything. I can never take anything for granted, ever. I am constantly on my toes. I constantly keep my eyes posted to every clinical trial being done in hopes that maybe, just maybe, today might be the day that someone can help take away his pain.

Rare is limiting, and never goes away and finds its way into everything our family does. We always have to take into consideration Nicky’s needs. We can’t leave him alone as there are a lot of things he cannot do by himself, there needs to be time put aside for bandage changes and g-tube feedings. Rare will infiltrate itself in every minute of every day.

Rare is Nicky, his sweet smile. It’s his love for life, how much he loves his family, and his determination to find a silver lining in even the hardest of times. It’s his love for his online friends he spends most of his time with. It’s his bravery, his amazing laugh, his big blue eyes, his courage.
To know Nicky is to love him. I am so proud to call him “son”.

Love & Light,