From The East Cork Journal.
An East Cork mother says she’s “lost for words” as her son was approved by the HSE to receive a new wonder drug. Rebecca Bulman recently campaigned for the use of Spinraza for her son, who was born with Spinal Muscular Atrophy (SMA).
Mrs Bulman was among the parents of 25 other children with the rare muscle-wasting condition, who campaigned outside the Dáil in March for access to the drug. The often fatal condition affects fewer than 100 people in Ireland, of which 26 are children. SMA is a genetic fatal disease where one of two muscle building genes are missing. A child with the condition is unable to sit or speak. There are four types of the illness. Children with type one rarely live beyond 2 years of age while those like 5 year old Harry Bulman, with type two, have a life expectancy of early 20s.
The family is delighted with the news but, Rebecca says, “The fight is not over, we’ve just won part of it, because it’s only children who are approved for the drug. We need it for everyone. The adults deserve it as much as the children. We don’t want to leave them behind.” Speaking with The East Cork Journal Ms Bulman said that accessing the drug means everything to their family. “It gives Harry a chance to do all the things he loves to do. He won’t lose the ability to write in school like he would if he didn’t have Spinraza.” “Most of all” she said “it will lengthen his life expectancy, and that’s all I could ever wish for.”
At present young Harry is completely dependent. He needs to be lifted out of bed to go upstairs to the toilet numerous times a day. He has to be turned in the bed at least seven times a day because he can’t belch. He is on extra drinks to maintain weight because his chewing is getting slower. He’s on loads of machines to help the muscles in his chest if he gets sick.
Spiranza is a treatment that can help the condition by putting extra proteins into the one remaining muscle building gene, helping maintain the muscle that is there and, in some cases, actually rebuilding muscle. Despite being available in 25 other European countries, children with SMA could not access the drug through the HSE until this week. A one year supply of the drug costs over €640,000 per child, and each subsequent year the price drops to €341,000 per patient. Ms Bulman said doctors expect that her son will be able to access the drug as early as July. She said “we just hope he can build back what he has lost, and be the best he can be.”