Rare Diseases and the Medications that Treat Them

It's been an exciting few weeks around our household for Segunda. Our pediatrician found us an endocrinologist who is one of the foremost experts on HPP in the western United States, and he is local to us. This means that he can prescribe Strensiq for her. Strensiq is a drug developed for patients with hypophospatasia (HPP) and was approved by the FDA 4th quarter of last year. Segunda's new endocrinologist is also on the board for Strensiq. Our luck couldn't get any better. 

In mid-March we had our first appointment with the new doctor. It was a torture session for Segunda. She had to walk around the doctor's office for 5 minutes to get a baseline for how fast she can walk and what her stamina looks like. At the 2 1/2 minute mark, she tripped over a rug. She didn't fall, but it was very upsetting to her and she screamed and cried the remaining 2 1/2 minutes and begged me to pick her up. So I walked backwards through the halls of the doctor's office holding her hand and coaxing her through her remaining time. She had blood work, which is never fun.  But the end result is he prescribed this new drug that is only for HPP patients. 

The pharmaceutical company that makes Strensiq is called Alexion. Alexion has partnered with a company called One Source. One Source assigns a nurse case manager to patients on these specialty drugs. The day after our prescription was called in, I called our One Source nurse case manager and she shepherded the prescription through insurance and got us approval in less than 24 hours. This drug costs anywhere from $100,000 - $285,000 per year depending on the prescription, which depends on body weight, and it's for a disease nobody has ever heard of. And BAM - approved! Wow! 

The wheels were set in motion and I found myself getting very well acquainted with our nurse case manager and the pharmacists at Panther Pharmacy who arrange for sharps containers, the medication and all supplies you need including your choice of character bandaids, and a special refrigerator with a memory board on the front that talks to the pharmaceutical company. The sharps containers arrived first. The medication was next but delivery was delayed due to a spring time blizzard in our neck of the woods. It arrived just in the nick of time and was immediately put in the refrigerator. We received our insulated travel pak for medication and the fancy refrigerator arrives Friday. 

Today was a huge day in the midst of it all. We received our injection training by a nurse in the company of the Nurse Practitioner for the endocrinologist. It was extensive training with practice and then the real deal. Segunda picked where she wanted her shot and I gave it to her. She cried a bit, but handled it very well. So, today, March 30, 2016, Segunda received her first injection of a medication that will be life-changing for her. 

She has soft bones, she walks independently but is far more stable with the twister cables, she jumps but can only jump once and only about 1/2 an inch. Her stomach hurts almost all of the time. Her back hurts all of the time. She gets migraines. On the medication, her bones might begin to harden. She should be able to walk without the aid of twister cables and not trip and fall as much. She should be able to jump and jump and jump. Her stomach aches should diminish. Her back ache should go away. The headaches might remain and could potentially get worse, but we will cross that bridge when we come to it. She will be able to live a life that has markedly less pain than she otherwise would. She will break fewer bones and be able to participate in activities that she probably would have struggled with. She will likely still have pain as it is a degenerative disease, but it likely won't be as bad or as constant as it is now is for her. 

The drug is very new, but we have high hopes. We have heard many success stories from caregivers and adult patients, and the decision to try this drug was really a no-brainer. If we can help her have even one of the benefits of this medication, it's worth it. This is something you don't hear very often, but I'm grateful for the pharmaceutical company that invested in the research to give my daughter a life with a little less pain. Today is an auspicious day.