Windham Family Maintains Hope as Toddler Battles Rare Skin Condition
A mother puts her daughter's daily struggle into perspective on 'Rare Disease Day.'
Kerri Spinazola is through being upset over her 3-year-old daughter Melina's skin condition.
She does admit that life was difficult in the first year-and-a-half after Melina was diagnosed with Epidermolysis Bullosa, also known as EB.
The rare disease, which doesn't have a cure, causes the skin to be so fragile that even the slightest friction can cause mild to severe blistering. The condition impacts one in 50,000 births in the United States each year.
For Melina, it's difficult to say how many blisters she has on a given day. Her feet get them the worst, and the blisters are painful.
"It's just repetitive friction, which means every time she puts her feet down, there's friction," said Spinazola of her daughter. "She keeps smiling. She deals with it. She moves on."
Melina isn't the only trooper. In October 2011, Spinazola turned the corner from frustration, facilitated mostly by her connections online with others battling EB.
The closest people live within two hours of Windham, where Spinazola and her husband have resided for 12 years next month.
"It's sort of like having somebody who understands what you are going through," Spinazola said of those she connected with.
Melina suffers from the simplex version of the disease, which is the non life-threatening, mildest form. What started as speculation became an 80 percent presumed diagnosis following a biopsy last year.
"She's going to live a perfectly normal life with some restrictions," said Spinazola.
Others with whom Spinazola has spoken with have it different, as some forms of the disease are much worse. Those families approach EB with a different range of emotions.
Spinazola has now turned her negative emotions into positive determination.
She has a sharp focus on advocacy and seeks to educate those around her about EB and the challenges that arise from her daughter's disease.
One idea that has produced results are the business cards, 1,500 of which have been handed out in the last year.
Spinazola said the cards, which offer general information about EB, are used by her and her family daily.
Sometimes she will hand one to a parent in public who is physically taking their child away from Melina. Other times, the family will leave one with the bill when they dine out.
"When people have a question, they have a look on their face when they look at (Melina), and they wonder if (EB) is contagious, I hand them a card," said Spinazola.
Awareness has also come in the form of T-shirts (which the family tries to wear in bulk), donation parties, car decals and bracelets. A total of $9,000 was raised last year.
But the challenge hasn't been getting the Windham community to embrace her daughter. In fact, Spinazola used words like "phenomenal" and "receptive" to describe her neighbors around town.
The obstacle is a macro issue – the lack of funding for EB.
But there are glimmers of progress.
Spinazola and her family have donated their money to a couple of causes that are generating dollars toward EB research.
Pioneering Unique Cures for Kids, or PUCK, was founded by a parent who lost their daughter to a fatal form of EB several years ago.
"They were just driven," said Spinazola of the family.
PUCK, a 501(c)3 non-profit, later joined with the much larger Children's Cancer Research Fund.
Another organization, DebRA of America, injects 89 cents of every dollar donated into both research and helping EB families.
Now the research taking place is tangible.
Spinazola said that bone marrow transplants are taking place at the University of Minnesota, and significant improvement has been seen for patients that have survived.
Naturally, the research focus is on the harshest forms of EB, but she is confident that there will be a trickle-down effect.
If they can cure the serious forms, they can certainly find a way to cure the less serious ones, said Spinazola.
She has also been told by others that EB will be tough during the teen years, when skin problems peak, before potentially improving as her daughter's skin toughens into her twenties.
With her daughter already getting a bit older she will soon attend Windham Learning Tree Academy.
As Melina grows up, her mother is finding the time to organize big things, including her first major fundraiser at Castleton.
Due to limited space, the March 23 fundraiser is by invitation only, but it's also not the only day that Spinazola hopes that people have their minds on rare diseases.
With today marking the international "Rare Disease Day," advocates for cures will be in Washington, D.C., brushing shoulders with lawmakers.
"Rare Disease Day – it's not because of EB, it's because of the 6,000 rare diseases that the organization was formed," Spinazola said.
While one day she hopes to take her daughter to the capitol for the annual awareness event, Spinazola is content with staying in Windham, wearing her purple t-shirt and bracelet.
Melina will do the same, with a smile on her face.
For more information on Melina Caroline Spinazola and the Epidermolysis Bullosa condition, visit here.