- Posted July 3, 2014 by
This iReport is part of an assignment:
Raising a special needs child
Jack was diagnosed with Mucopolysaccridosis II (MPSII) or Hunter Syndrome at 15 months of age, after a murky medical start and months of seeking advice and help.
I didn't have an inkling of what three letters could do to me and my life journey. MPSII is a rare disease, approximately 2000 cases world wide. I was told to take my child home and love him to the fullest and that his life expectancy is first decade of life. From that moment my identify changed and led me on a very unique path. I became an advocate, a geneticist, an insurance navigator, a record keeper, a special education expert, a county service expert, a nurse, a therapist, a fundraiser, a community liaison, and the list went and goes on. I am constantly finding strength and energy that I had no idea existed until I have had to have it.
MPSII is a devastating disease, a child misses an enzyme that breaks down waste at a cellular level. The waste builds up and starts to damage the body, the entire body. The disease is progressive and terminal. Although it is painful to witness, I have replaced helplessness with hopefulness. With the Ophan Drug Act, drug companies have took interest in rare disease. There is currently a life saving drug in PhaseIII clinical trial, however Jack doesn't qualify. He was excluded from the Phase I safety trial. My husband and I left our jobs, and dedicated our ives to help save Jack, we fought hard to get this drug through compassionate usage program the FDA has established. The FDA is supporting our movement, however the pharmaceutical company doesn't want to take a risk and provide compassionate use of their drug, in fear it could impact their population pool which is small, and in result impacting the possibility of approval. We have watched 10 families witness a miracle, their sons are not dying, the boys on the drug for 4 years are stable. This have been extremely challenging. It has questioned humanity and ethics. It has brought my family, friends and community into a frenzy to fight. Fight for a little boys life. This is my new reality of what rare disease is and how society, specifically pharmaceutical companies treat children with special needs.
What does a parent do? Anything and everything! We love our son and have a commitment to make sure he is happy and here with us as long as possible. Jack has an incredible infectious smile and has changes the lives of others on a daily basis. I could write a thick book about the impact he has on others within the past 6 years of his live. He lessons deep and raw, his love real and present, truly a sacred blessing. I often wonder what and who I would be without this gift and it scares me.
He loves without condition, he plays with his eyes. He sees no boundaries and faults. He does not judge. He sees no prejudices. He is a perfect person in my eyes!
Every single night I kiss him goodnight and be grateful for another day. And I pray Jack's miracle will happen.
- My life