When I was growing up, we had a lovely babysitter who started every meal with a prayer she learned as a child, but changed or added to because she looked at things in a different way. “The Lord is my shepherd, I shall not want… but I do,” she would say. She would look at all of us with a funny grin and talk about her laundry list of needs. There was a great deal she wanted. It still makes me smile to remember Ellen and her very honest approach. I can I still hear her words and see that silly grin now, understanding very well that we all have the “but I do” list of needs.
When you have a child with Duchenne, you wake each morning wondering about the next morning and the next months and the next years. What will life be like? Will whatever strategy you have your heart set on be ‘in time’, knowing that ‘in time’ is actually today, this minute. Waiting, wondering, hoping – and with each bit of news calculating TIME. If this happens on a certain day, then my son will be this old and will be able to…
I used to try to broker deals with God nearly every day: “If you let them walk forever…I will…”, and, “Ok if they cannot walk, please let them move their arms and I will…” Each deal had different parameters, different rules. Chris and Patrick did not ask for deals or details of my deals. They were having fun, living their lives.
During the New Directions in Biology conference last month in New Orleans, there were enthusiastic discussions about clinical trials with PTC124 and Antisense Oligonucleotides. These strategies will change progression in Duchenne with the potential restoration of the full length dystrophin (PTC124) and/or a shortened version of Dystrophin ‘stitched together’ by skipping over an exon and re-establishing an in-frame message, one that makes sense to the cell machinery as well as upregulating Utrophin. In addition, clinical trials are in the planning stages on a number of therapeutics such as protease inhibitors, NFkappaB, and anti-fibrotics. It is the stuff dreams (and prayers) are made of.
There are many strategies coming forward and more than 15 companies interested in Duchenne. Six companies are working on Utrophin upregulation. Summit (Vastox) has a compound C1100 they are moving toward human studies with back-up compounds, should C1100 encounter any obstacles. There are more than four companies working on muscle regulators (IGF1 and anti-myostatin). There are companies sorting through approved drugs to understand if there is a drug or combination of drugs that will slow or stop progression. Many academic labs are identifying potential new drug targets and filling the pipeline that will expand possibilities in Duchenne.
In parallel, many others are working on ways to expedite trials and overcome hurdles such as IRB and regulatory issues.
There is a convergence on Duchenne research – a belief that treatments are near and a certainty that boys of this generation will grow up to become adults. The community is poised and able now to work together to accelerate the development of treatments and cure, and to ensure that ALL boys have access to treatments.
“The Lord is my shepherd, I shall not want…“ But I do. End Duchenne.
P.S. In fact, if you really think about it, your son will live longer than the physician who diagnosed him. He will live to be an adult and will need the same tools his parents/grandparents (you) learned in order to survive. All of us have different skills and all of us compete with the skills and tools we have. My son Chris said it best “I compete with my brain and with it, everything is possible”.