Since we started Cal's foundation, we have been determined to work for a day when leukodystrophy ceases being a death sentence. We are so proud to the doctors and researchers and patient families who do not want "go home and enjoy the time that is left."
This week, we had the chance to speak to a family , Vibhav and Sonal Rangarajan, who got the same news Pat and I had gotten six years ago . A pediatric neurologist at Lurie's Children's Hospital had told them on Friday that their beautiful and amazing two year old, Rahda, who loves Elmo and Cookie Monster and Moana has MLD. Over the next three to six months, the neurologist warned Rahda would start to experiencing the devastating impacts of the disease, losing the ability to swallow and speak, and then the nerve pain and neuropathy. Vibhav, a cardiologist, and his wife Sonal, a gastroenterologist, are physicians, so they are used to solving problems for their patients. They had learned that gene therapy and cord blood transplants would not be recommended for Rahda.
Vibhav explained that even though there seemed to be no options, they were not prepared to abandon a treatment for their daughter.
But, what they did not know that there was another team of researchers was also interested to use the work that has shown great promise for treating other neurological diseases and apply it to MLD. The project would not launch for a year, and they biotech was already speaking with a respected research team here in the US. As is always the case with such research for rare diseases, funding would make things happen more quickly. And so, inspired by our amazing families and children who have been waiting for so long to have a way to fight MLD in symptomatic children, we are launching this emergency appeal. We want to help get this research to the US sooner rather than later.
We want to make a meaningful investment in a treatment for children with MLD.
What is enzyme replacement therapy (ERT)? Children with MLD lack the ability to produce a single enzyme, arysulfatase A or ARSA, in the amount needed to keep the brain and central nervous system healthy. The idea of ERT, which has been so very effective for treating other similar disorders for decades, is that you replace the missing enzyme in the body. But, for all neurological diseases, there is the question for the blood brain barrier. The difficulty is getting the enzymes to the places in the body where it will be possible for the proteins to keep the brain and central nervous disease. ERT is not a cure and it cannot reverse the damage to the brain and central nervous system, but it can stabilize the disease and give families an improved quality of life. The researchers will establish the eligibility criteria for clinical trial participants.
This fund is established for all our newly diagnosed families who want to invest in a miracle for our kids.