"The obvious things were they had an enlarged spleen and a mildly enlarged liver...verbal things and some of the other more dramatic stuff came along quite a bit later."
"Right now Cassi gets the injection in her back and Addi gets her injection right into a little port that's just right below her scalp. We do that because the outcome of the Niemann-Pick disease is well understood..."
"It might be really hard as a parent to take that step if your child is fully functional...if you know the child has NPC, the earlier the intervention you can do, the better."
For many years, Bryan and Laura didn't know their kids had NPC, and doctors didn't test for it. One telltale symptom - an enlarged spleen - could have told them otherwise.
"We had to drive six hours south to Oakland every two weeks...but we felt so strongly that the cyclodextrin was working and helping that this is something we really needed to do for our kids."
Dr. Hastings has over 15 years' experience treating cancer in children, and works in the Neuro-Oncology Program at Children's Hospital & Research Center Oakland.
Knowing that early-onset NPC meant that Addi and Cassi were only expected to live to the age of 10, Hugh and Chris made it their mission to find a way to help their daughters.
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. Nepo is associate professor of clinical pediatrics at Albany Medical College, and works at the Melodies Center for treatment of children's cancer and blood diseases at Albany Medical Center.
Receiving intrathecal cyclodextrin can be anxiety-inducing for your child. Calm, supportive parents and nurses are the most important factor in easing the process.
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.
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.
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.
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.
During JP's intrathecal treatments, 6cc of spinal fluid is removed, and then the same volume of cyclodextrin is injected. At the end of the day, JP still has the energy to play lacrosse.
