Fight For Treatment
Niemann Pick Type-C (NPC) is a relentlessly fast progressing neurodegenerative disease. Once the damage is done, there is no reversing it.
Currently, there is no way to completely prevent the disease from spreading and building up.
The disease progression can be very different from one child to the next; Even siblings with the same gene mutations have been seen to have years of difference between the onset of severe symptoms. Some of the experimental drugs are more effective than others dependent on the gene mutation combinations. It is a near impossible task to know what is the best action parents can take to give their child the longest and best quality of life possible.
The news of Liam's Niemann Pick Type-C diagnosis in August of 2021 devastated Jen and I. Our world was darkened, swarming in fear and uncertainty, everything felt hopeless. We had no understanding of what Niemann Pick was, only that a cure did not exist and it would take our only child at a very young age. We were numb for weeks trying to sort out the range of emotions that flooded over us.
Slowly we started being able to tolerate reading about NPC and began researching the disease we had given to our son. NPC is an autosomal recessive disorder, which means that Jen and I both carry one mutated NPC1 gene and Liam received both of them. Jen & I have at least a 1 in 4 chance of having a child with NPC. The more we learned about NPC, the more it hurt.
One thing became clear; The disease has been building up in Liam since birth and it will only get worse with time. We urgently need to get Liam on any and all treatments that could help slow the progression of the disease down as soon as possible to buy him as much time as we can. Then pray that a cure is discovered soon.
As a lysosomal storage disorder, Niemann Pick Type-C causes the build up of cholesterol in cells of the body because the mutated NPC1 genes do not produce enough of the proteins needed to break down and remove the cholesterol. The cells inevitably die from swelling up and cellular stress. The brain, nervous system, liver & spleen are the crucial parts of the body that are impacted but there is no order or pattern to which systems will show severe symptoms of the disease first.
While our doctors looked into clinical trials that Liam could qualify for, we researched all we could about NPC, it's history, the experimental drugs, and clinical trials. We scrambled for anything we could hold onto for hope.
Learning that our infant son has NPC, has been a traumatic and devastating experience. The process of accepting this reality was incredibly difficult and emotionally taxing. However, connecting with other families who had gone through similar challenges was a source of strength and support. These families provided information, knowledge, insight, and friendship that is helping us navigate the difficult journey. Though it wasn't easy for these families to open up about their experiences, as talking about it can be emotionally difficult and reopen old wounds, we are grateful for their willingness to share and connect with us. Through these connections, we found comfort in knowing we were not alone in our struggle.
By talking directly to the families, we gained an in-depth understanding of the treatments their children were receiving, the difficulties they encountered, and the varying outcomes they experienced. The type of treatment available to families depended on the severity of their child's symptoms, whether or not there were any clinical trials available, and the ever-changing regulatory environment. Over the past 15 years, families have gone from being able to test out treatments at home to being required to participate in placebocontrolled trials. For instance, Hydroxypropyl-beta-cyclodextrin (HPBCD), one of the most impactful treatments discovered so far, is a sugar molecule commonly used to make drugs and other active ingredients more soluble, stable, and absorbable. It is used in pharmaceuticals, dietary supplements, food, beverages, cosmetics, and other personal care items. Once available readily available for purchase, now can only be administered to NPC patients through IV (through veins) or IT (through spinal fluid) transfusions within the protocols approved by the FDA, if you meet specific criteria.
Two drugs that recently went through clinical trials that use the HPBCD sugar molecule are Cyclo-Theraputic's Trappsol and Mando's Adrabetadex. Trappsol is only administered through IV and has predominantly shown to improve the liver and spleen conditions when administered at a young age, it is unknown how much of the drug passes though the blood brain barrier to the brain to help with neurological symptoms. Adrabetadex has been tested being administered though both IV and spinal fluid. Administration into the spinal fluid (IT) allows the drug to directly reach the brain and has shown to have most significant impact in affecting the course of the disease and it's symptoms. IT administration also requires the use of anesthesia.
A third experimental drug, KemPharm's Arimoclomol, is a much less invasive method as an oral medication that tries to use heat shock proteins to rescue any protiens that the NPC1 genes may produce. It has not proven to be as impactful as the cyclodetrin based drugs but has shown in some cases to have as much as a 70% reduction in the rate of progression of the disease when paired with Miglustat. Unfortuantely, results are not consistent across patients of different mutation combinations. Arimoclomol only works if the patient produces some protein from the NPC1 genes. patients need to have at least 1 missense mutation and hope that creates enough protein for Arimoclomol to be able to rescue. There also aren't any good test to know how well a patient might respond before taking the drug. Their is no way to ensure Arimoclomol will work.
Once Jen and I learned about the various experimental treatments, we started to push for all three. We knew that any medicine to do something to slow the progression the disease down would be better than nothing.