Meet six families and hear their journeys of navigating life with Niemann-Pick Type C.
4 YEARS OLD, PHOENIX, AZ
Family members: Denise (Mom), Rickey (Dad), McCoy (brother)
Favorite activities: Reading books, Camping
Date of diagnosis: October 4, 2019 (3 months old)
First symptom: Extreme Liver dysfunction
What medications for NPC do you use and what difference do they make? IT Adrabetadex - Prior to receiving, he was losing abilities such as crawling, talking, and swallowing. Now he has those abilities back and is still gaining skills. He’s also received IV Cyclo as a neonate for liver dysfunction. As a result, Woodrow’s liver has completely reverted course back to normal.
What are your greatest fears surrounding NPC? The greatest fear for us as parents of a child with NPC is that it will be too late, and we will run out of time. That multiple drugs and therapies will be approved but it will not be beneficial for Woodrow because it took too long and the NPC has already taken over his little body.
What do you want people to understand about NPC? NPC is not a one size fits all disease. Not one person with NPC has presented with or is progressing with the same symptoms or at the exact same rate. The more therapies available to individuals with NPC, the better quality of life they will have and the better their outcome will be.
Anything else you'd like to add? NPC is fatal, so why not give everybody a fighting chance and be able to receive any and all treatments. After all, what do they have to lose that they haven’t lost already or will lose?
31 YEARS OLD, TAMPA, FL
Family members: Dad, Mom, 2 Younger Brothers, 2 Dogs
Favorite activities: Yoga and going to the beach
Date of diagnosis: December 5, 2019
What medications for NPC do you use and what difference do they make?Miglustat and Arimoclomol - They help with some of the symptoms like balance, swallowing, ambulation, and fine motor skills.
What are your greatest fears surrounding NPC? The lack of knowledge to treat the disease and what’s to come in the future, which is different for every patient.
What do you want people to understand about NPC? That this is a very complex disease to manage. It progresses slowly and is very cruel.
9 YEARS OLD, BELLINGHAM, MA
Family members: Meredith (Mom), Evan (Dad), Cece (Sister), Jackie (Sister)
Favorite activities: Making storybooks, singing Disney songs, adding to her latest collectible toy
Date of diagnosis: February 2021
First symptom: Tripping and falling a lot at age 3-4
What medications for NPC do you use and what difference do they make? Miglustat and Adrabedatex. Prior to starting medicine, Reagan was very tired and would pass on doing her favorite things like coloring. She had stopped trying to walk completely. After beginning medicine she has energy and is eager to interact with her sister and peers. After starting medicine she will walk short distances, color and do other crafts and has continued to learn new things at school.
What are your greatest fears surrounding NPC? That NPC will steal her biggest joys, her beautiful personality, and take her from her sisters.
What do you want people to understand about NPC? In neurodegenerative disease, early action is critical. By the time symptoms appear, unchangeable damage has already occurred. Early intervention is critical and stabilization is an amazing achievement.
Anything else you'd like to add? We are where we are today with hope on the horizon for this disease due to the hard work and sacrifices of amazing legacy families, researchers, and doctors. This disease has already caused so much heartbreak. We cannot lose another generation of children.
Belle & Abby Andrews
13 & 9 YEARS OLD, AUSTIN, TX
Family members: Pam (Mom), Chris (Dad)
Favorite activities: Swimming, dancing, knitting, gymnastics, playing guitar, and playing with my two poodles (Lady and Lucy) and my golden retriever (Charlie). We also love spending time with family and friends and traveling to see new places.
Date of diagnosis: March 10, 2016
First symptom: Eye movement abnormalities and ataxic gait
What medications for NPC do you use and what difference do they make? Adrabetadex first and then Zavesca in 2018. In 2016, within weeks of treatment Abby began to develop rapidly, speaking two languages at home, dancing and going to gymnastics.
However, Belle began to decline rapidly and soon after her enrollment in the clinical trial for VTS 270 (IT cyclodextrin/Adrabetadex), she lost the ability to walk.
It became obvious to the family that Belle was on the placebo while they knew Abby was receiving the drug. Thankfully there was a rescue protocol, which was triggered after Belle lost the ability to walk. Belle finally began treatment withVTS270 in January of 2017, eight months after her baby sister. For our family, this treatment has been a true blessing.
Belle has stabilized and her therapists, teachers and all of her clinicians are impressed with how she is doing. She will probably never regain the ability to walk. However, after nearly seven years on treatment, she hasn’t lost the ability to talk or swallow and has made cognitive gains. This alone is a variation from natural history. Abby was the youngest in the world (at the time) to begin treatment withVTS270.
By all accounts, after seven years of receiving treatment, Abby appears neurotypical and still has only minimal symptoms of NPC detectable by her doctors.
What are your greatest fears surrounding NPC? My greatest fear is that their life saving and life sustaining medications will be taken away and they will both begin to decline rapidly.
What do you want people to understand about NPC? NPC is progressive -think pediatric cancer if it were to go untreated. NPC has a global standard of care and our children should NOT be subject to a placebo when participating in clinical trials. It is unethical at best.
Anything else you'd like to add? If the FDA doesn't allow and apply flexibility for the rare disease community, children will continue to die unnecessarily.
44 YEARS OLD, PITTSBURGH, PA
Family members: Bradley (Husband)
Favorite activities: Scooting, spending time with friends and family, listening to music, reading, advocating
Date of diagnosis: September 13, 2019
First symptom: Difficulty walking in high heels / balance at age 34
What medications for NPC do you use and what difference do they make? Arimoclomol, it is delaying progression and keeping me as mobile and independent as possible!
What are your greatest fears surrounding NPC? I would not live to see approved treatments or cure.
What do you want people to understand about NPC? NPC is different for all patients! Time of onset, speed of progression, how it shows up and manifests.
Anything else you'd like to add? We're still here, we matter, we're doing our best in difficult circumstances.
Brody & Owen
5 & 3 YEARS OLD, OHIO
Family members: Mike (Dad), Amanda (Mom), and Spencer (Brother)
Favorite activities: Brody and Owen love to play superheroes, ride their bikes, build forts, visit the zoo, and read books.
Date of diagnosis: March 2020
First symptom: Brody’s first symptom was an enlarged spleen. Owen presented with ascites in utero, among other complications, which resolved on its own.
What medications for NPC do you use and what difference do they make? Brody and Owen take Miglustat and Arimoclomol. The biggest difference medication has made for our boys is that they haven’t had any worsening of symptoms. They are stable and we need to keep it that way.
What are your greatest fears surrounding NPC? Our greatest fear is that our children will begin to progress in their disease and lose skills that they will never be able to regain before multiple drugs and therapies are approved. We fear losing our children little by little to NPC.
What do you want people to understand about NPC? NPC is devastating. We need access to multiple therapies and treatment options now! We also need to continue to support the development of new therapies.