Giving Back

Somers Resident Sheds Light on Orphan Diseases

Nicole Roublick, age 15

When Laura Roublick first learned that her 1-year-old daughter, Nicole, had a rare blood disease, the next step wasn’t exactly clear.

There are limited resources for treating ALPS, or Autoimmune Lymphoproliferative Syndrome, which affects less than 300 people in the entire world.

Fifteen years since Nicole’s initial diagnosis, Roublick has managed to transform a seemingly-insurmountable challenge into an opportunity for raising awareness. Roublick, a Somers resident, has been active in promoting and supporting charities dedicated to finding cures for rare illnesses like ALPS. Most recently, she helped organize a holiday cookie swap event in town, where $2,000 was raised for the charity “Cures Within Reach”-- a group that repurposes drugs and devices in order to find cures for disorders which don’t yet have effective treatments. Other organizations that Roublick has supported in the past are the Ronald McDonald House, the Make-A-Wish Foundation and Camp Sunshine-- a Maine retreat designed for children with rare diseases and their families to come spend time and relax in nature.

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ALPS is considered an “orphan” disease, as it inflicts a very small percentage of the population. Typical symptoms include anemia and increased infections, which means that children affected by ALPS often spend many days per month in the hospital, and life expectancy is often low.

After many years of uncertainty and time spent in-and-out of hospitals and doctors’ appointments, Nicole is now at a stable point.

“There’s been a drastic improvement,” Roublick said of her daughter. This is the result of Nicole trying the first and only effective treatment for ALPS: a medication called Rapamycin, which was created at the Children’s Hospital in Philadelphia through Cures Within Reach.

The medication has so far been successful in treating children with ALPS without producing any major side effects. Reducing the number of hospital visits, Rapamycin also has significantly reduced the medical costs associated with ALPS. While the average ALPS patient is expected to incur medical debts exceeding $150,000 a year, with a Rapamycin regimen in place, that cost can be reduced by as much as $100,000 per year.

Since starting treatment with Rapamycin, Nicole has finally been able to do the sort of things which healthy people often take for granted: going outside, relaxing at home and Black Friday shopping.

“I was so alone,” says Laura Roublick of the years she and her family spent searching for a cure. Now, she is determined to shed light on rare illnesses like ALPS so that other parents facing similar hardships might feel less overwhelmed.

Nicole shares this view of her mother’s activism.

“All the stuff [my mom] does and that [our family] is a part of is not about me, but to make sure others don’t have to go through what we did,” she said.

Roublick recounted the years before Rapamycin, during which Nicole’s health shook up their entire family: Laura’s husband, John, their two younger sons, and Nicole. Yet, Roublick understands that these trying circumstances have shaped her children in positive ways.

“My kids are caring and accepting as a result,” said Roublick of her sons.

Roublick, who is a teacher at the adolescent treatment center Four Winds, dedicates much of her free time giving back to those charities that helped Nicole regain her health. She cites the generosity of organizations like the Ronald McDonald House-- who provided Nicole with free meals and housing while she was recieving treatment in Philadelphia-- as motivation to continue raising awareness.

Beyond the charities that have reached out to her family, Roublick also acknowledges the kindness of Somers residents, including the Somers schools who she says “have been phenomenal with us.” Nicole, now 16, currently attends the BOCES program.

Roublick never tries to gloss over the difficulty in dealing with life-threatening disease, but remains optimistic that, no matter what happens, she is supported by her community.

“There are really good people who have helped us through all of this.”

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