Raising hope for Reagan Piotti's fight against NPC

In February 2021, the Piotti family learned devastating news. Their oldest daughter, Reagan, was diagnosed with Niemann-Pick Type C (NPC) disorder. This diagnosis is a nightmare coming true. NPC is a fatal, progressive, neurological disorder. It is a race against time for Reagan.

This GoFundMe will support the Piotti’s as they travel to Chicago bi-weekly for Reagan’s treatments of a drug in clinical development. Any additional funds will support the NPC community’s fight for effective treatments and access to those treatments.

About the Piotti’s

The Piotti’s are blessed with three adorable daughters. Reagan (7), Cece (5), and Jackie (1). All three girls have been born and raised in Bellingham, MA.

Reagan is a fun-loving, creative, second grader. She loves unicorns, the color purple, doing arts & crafts, and singing to her favorite Disney songs. Her sweet, caring personality has made her an amazing big sister.

With her gentle and cautious nature, it was hard to spot Reagan’s slowly progressing delays. At first there were minor concerns about not jumping or slight clumsiness. Wanting the best for their daughter, the Piotti’s sought support for Reagan. As time progressed and more testing was performed, the Piotti’s and their medical team knew they were battling something larger than delays. After working with Boston Children's Hospital for 2½ years, Reagan was diagnosed with NPC in February 2021.

Cece and Jackie do not have NPC, but they are carriers of the gene.

About Niemann-Pick Type C (NPC)

Niemann-Pick Type C is a genetic disorder caused by missing both NPC genes. The NPC genes help the body remove naturally occurring cholesterol from the body. When one NPC gene is missing, the other can perform the work independently. Carriers (people with one missing NPC gene) are symptom free and are often unaware of their carrier status. When both parents are carriers, there is a 25% for a child to have NPC.

Children born with NPC are often born healthy, just like Reagan. But as cholesterol builds up, the spleen, liver and brain have difficulty processing. The cholesterol becomes toxic and symptoms start to appear. They can come in many forms but often include slurred speech, clumsiness, difficulty walking, excessive eye movements, sleep disturbances. As NPC progresses, the challenges progress to difficulty with sitting, swallowing, and speaking. Seizures develop and their memory fails them. NPC children face frequent hospitalizations and years of suffering. NPC is currently always fatal and many NPC children do not live to see the age of 10.

Treatment for NPC & the community’s Battles

There currently is no cure for NPC. There are also no FDA approved treatments. But there are promising efforts underway both for both treatments and a potential cure.

Recently, the maker of one of the most promising therapies announced bankruptcy and the FDA put the expanded access program on a clinical hold as it was transferred to the new owner. Effectively pulling access to this life altering medication. With this news, the Piotti’s and their medical team worked quickly, and Reagan went on a last second emergency trip to Chicago. The efforts were worthwhile as Reagan was granted access to the program just under the wire. To receive this promising treatment, Reagan and a parent will need to fly to Chicago every two weeks.

The fight for access is not over. This drug is still in clinical development and needs to be approved by the FDA to ensure its continued accessibility. Without approval there is a possibility that the drug maker will stop all access to the medication (including for kids that are taking it, like Reagan).

It is truly a race against time for these kids. They need access to treatments and funding for more research. Time is finite as are research funds. The NPC community is working hard, hoping that science can move quicker than NPC progresses.

What does this GoFundMe support?

This GoFundMe will first go to support the Piotti family with their travel and medical expenses. While they are fortunate to have outstanding insurance, the costs will still be high. With traveling to Chicago every other week, at +$1K per trip, the family will easily incur over $26K in travel expenses alone.

Additional funds raised will be donated to support development and patient access to NPC treatments.

How can you help?

• Donate today. No amount is too small.
• Share on social media with hashtag #ReaofHope
• Email the GoFundMe to your friends and family
• Follow Reagan’s story on Facebook at Rea of Hope
• Donate Marriot loyalty points to the Piotti’s. Email [email redacted] for details.