My nephew Mark Pyeatt has neurofibromatosis 2 but that is not who he is. He is an indomitable spirit, a courageous young man, a man who knows and faces each day certain that he is one with his God. He is like many young people in search of the truth. He reads. He thinks but he no longer hears.
Neurofibromatosis 2 is characterized by recurrent neurologic tumors and its signature tumor is one of the auditory nerve. It’s relentless course ultimately destroys the hearing.
I have never heard Mark complain. While my signing is only rudimentary, most of his immediate family are proficient and at Christmas dinner for forty family members, nearly everyone is trying to learn to sign.
The grandkids sing, “Happy Birthday, Jesus. I’m so glad you came.” The whole family is learning to communicate with their hands.
I mostly like to learn insults so I can taunt Mark on the golf course. I can’t use most of the signs I’ve learned on television. I don’t know this for certain, but I think the seven words George Carlin used – cannot be said or signed on TV.
I love the way names for people in sign language are created only by the deaf. Mark’s mother Lori is L to the ear. My wife Kelley is K sweet. My middle son Duncan is D in a hoop.
Neurofibromatosis 2 is a rare disease. Some call it an orphan disease. Orphan diseases face certain obstacles that other diseases do not. Money is allocated typically for research based on how prevalent the disease is. For rare diseases the resources are likewise rare.
In order for investors to invest in a cure for neurofibromatosis 2, regulatory obstacles need to be cleared. We need to allow foreign drug studies to be accepted and not repeated in the US. We need to have speedy approval for drugs that are already being used by the general populace in foreign countries.
My chief of staff’s sister Karen has pulmonary fibrosis, another orphan disease. She is 40 years old with a young daughter, and she is likely only alive today through a fluke in the system.
She takes a medication that is part of an experimental trial in the US but has been on the general market for years in Japan. If she did not live near a center of research it would be illegal for her to take the drug. If her family did not pay the 1500 per month out of pocket, she could not receive it. This drug should clearly have been approved already. It went through trials here, it is already approved in Europe and Japan. 200,000 Americans are denied it today.
We all want safety in drugs and cures. We all acknowledge that it is a balancing act. We should all acknowledge that the regulatory obstacles and burdens new drugs face in our country are oppressive and counterproductive.
My hope is by putting a face on two orphan diseases, that are close to my family and friends, others will come to realize we must do something to get rid of government obstacles to cure.