Our Daily Journey Through The Unchartered Territory of Rare Disease

Rigid Spine Muscular Dystrophy

Our Current Medical Care Issues:

Since moving back to the US, we have had to make difficult decisions based on the cost-of-care, that has compromised both their short-term and long-term health. Due to the inflated health insurance premiums we were paying – premiums that provided less than 5% of their daily healthcare needs - coupled with the providers expensive deductibles, co-pays and ‘out of pocket’ fees, major stress and worry for our future has compounded the worry already felt in a home that has two children with a rare disorder. The compromises we have had to make in the last year may have saved money initially, but ultimately cost more down the road. For example: My three-year-old daughter was able to get the RSV shots last winter because of the high risk of respiratory failure the virus posed to her. Unfortunately, we had to literally turn the deliveryman away at the door upon discovering the cost was $3,300 for three shots. Her deductable was almost as high, so even with insurance and having the shots ‘approved’, we would have had to pay the full amount ourselves. My stomach churned at the thought of having to turn the shots down, as my son almost died of RSV when he was three. Several weeks later, she was admitted to intensive care with Respiratory Failure and was ventilated for two and a half weeks. The cost was almost her life, and a $100,000 hospital bill.

Our Previous Medical Care Issues:

There is no roadmap for the family or physicians with rare illnesses.

We very quickly became the doctor and nurse to our children. We have to fight for the care they need and suggest possible treatments because the doctors just don’t know what to do and what to expect.As young, new parents, our days saw us writing the book on RSMD.Figuring the disease out, alone, the hard way. Imagine the worry of seeing a beautiful baby waste away without a clue as to why; Seeing his file put in the too-hard-basket; Living in a dark cloud of fear and worry because there are no answers why and no clue what was to come.

Multiple hospitalisations, traumatic resuscitations and ventilations - our lives became something we could never have imagined. These beautiful children, with amazing talents and personalities, typical in every possible way other than their bodies refusal to work properly.

It took five years to find a diagnosis and even then, there were no research papers, doctors or specialists that could tell us that our children will most likely die before their prime, or will develop crippling scoliosis as they grow needing multiple spinal surgeries before they even hit their teens. There are no roadmaps for us or for our doctors. We have had to write it, map it out, from hard, sometimes near-death experience; through trial and error. And more recently, through meeting a family who had all four children with the same disease. I understand that this is the way of rare diseases. But it is very difficult to live through.

My Hopes For The Future

I used to wonder if my children would be able to marry, have children, lead relatively normal lives as adults. Even the doctor who knew most about this disease in the world couldn’t answer these questions for me. I know now. I know that they may not live long enough, or have the independence, or the strength. They will hope for it and wish for it though, just like we all do.

I don’t think about this anymore. Now my thoughts are consumed with how on earth we are going to pay the next hospital bill. I fret over how we are supposed to pay for their tube-feed supplies when it costs more per day to feed them than the average middle class salary earns.

I wish I didn’t have to think about this side of things, but it is the reality for us at the moment. I would like to be thinking about loving them, caring for them, keeping them as healthy and as strong as possible. I resent the amount of time trying to get them the healthcare they need had been taking me away from them. I wish for less worry in life, for continued research about this disease and the gene affected and I wish to see them grow up happy and content in their own skins.

Jasmine xox