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The Honsinger Family

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Jay

JP's dad, Jay, has been instrumental in bringing media attention to his son's condition.

Donna

JP's mom, Donna, fights alongside her husband to help find a cure for NPC.

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Mollie

Big sister Mollie, who does not have NPC, sacrifices her time and energy to help care for JP.

JP

JP is the younger of two, and he has NPC. His parents first noticed symptoms when he was three years old, but JP wasn't officially diagnosed with Niemann-Pick Type C until September 2013, when he was ten years old. He fights NPC using cyclodextrin.

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Family Life

"Now we have a new normal...We have to be caregivers, we have to be strong, and it's not easy."

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Niemann-Pick Type C

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Family on Symptoms

"Mollie mentioned how, when her brother Jay would laugh, he would sometimes, like, collapse a little bit. It turns out it was cataplexy."

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Doctors on Symptoms

Dr. Anne Nepo

JP had abnormal eye movement and trouble with cataplexy - a condition that causes the patient to suddenly lose muscle tone.

Dr. John Pugh

NPC hampered JP's ability to walk, speak and swallow.

Dr. Natasha Shur

JP's symptoms manifested early on, years before his diagnosis.

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Cyclodextrin

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Using Cyclodextrin

"The only bad thing we heard was loss of hearing. And we decided we would rather have a deaf child than no child at all."

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Early Intervention

Family

Time is crucial when it comes to treating NPC - even the three to four months it took for JP to get cyclodextrin could have prevented irreversible damage.

Dr. John Pugh

Treating Niemann-Pick Type C early is especially important due to its chronic, degenerative nature.

Dr. Natasha Shur

In animal studies, test subjects demonstrated less neurotoxicity from NPC when they received cyclodextrin early.

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Family on Results

"A year ago, he wasn't talking, it was like one-word answers. He talks now, again."

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Doctors on Results

Dr. Anne Nepo

JP's cataplexy has improved, and his symptoms show no signs of progression.

Dr. John Pugh

JP takes monthly fine motor skills tests. Though he hasn't shown much improvement on these assessments since starting cyclodextrin, he has shown no signs of deterioration.

Dr. Natasha Shur

JP has more energy since beginning treatment. Though cyclodextrin isn't a miracle drug, it is an important step toward finding one.

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Intrathecal (IT) Cyclodextrin

Dr. Anne Nepo

Receiving intrathecal cyclodextrin can be anxiety-inducing for your child. Calm, supportive parents and nurses are the most important factor in easing the process.

Dr. John Pugh

Intrathecal treatment has advantages compared to intravenous treatment because it gets the cyclodextrin closer to its target, which increases the drug's effectiveness and lessens the chance of side effects.

Dr. Natasha Shur

During JP's intrathecal treatments, 6 cc's of spinal fluid are removed, and then the same volume of cyclodextrin is injected. At the end of the day, JP still has the energy to play lacrosse.

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Pursuing Cyclodextrin

Dr. Anne Nepo

Dr. Nepo's background in oncology and hematology made her an ideal candidate for performing JP's intrathecal injections.

Dr. John Pugh

Dr. Shur tapped Dr. Pugh, a neurologist, for a team of doctors focused on pursuing a cyclodextrin treatment for JP.

Dr. Natasha Shur

When JP failed to qualify for an NIH cyclodextrin trial, Dr. Shur formed a team at Albany Medical to develop a treatment for him.

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Family on Recommending Cyclodextrin

"I would absolutely 100 percent recommend it, and it's the reason I'm driving to Washington to talk to them."

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Doctors on Recommending Cyclodextrin

Dr. Anne Nepo

Cyclodextrin should be administered under the careful eye of a neurologist, and you should be certain your child has Niemann-Pick Type C and not a disorder with similar symptoms.

Dr. John Pugh

Cyclodextrin, though still in a trial phase, is worth having a conversation about with your doctor.

Dr. Natasha Shur

Whether or not you choose cyclodextrin for your child can be a difficult, complex decision.

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The Unknown of Cyclodextrin

Dr. Anne Nepo

Many drugs Dr. Nepo uses in her job as a pediatric oncologist are not formally approved for children, so the use of a promising drug like cyclodextrin is not unusual.

Dr. Natasha Shur

Cyclodextrin, though not FDA-approved for NPC treatment, is a sugar molecule found in many everyday household products.