Kaya is one of a handful of people that suffer from LGMD2D, also known as alpha-sarcoglycan deficiency. LGMD2D is a rare form of muscular dystrophy – resembling Duchenne, but affecting a different gene sequence – that when not treated will mean that the patient will end up in a wheelchair. The muscles in the legs and – at a later stage – in the shoulders will be affected and slowly be replaced by scar tissue. The ability of LGMD2D-patients to move independently will grow less and less.
Because the disease is so rare, there are no funds available for research and treatment in the Netherlands or Europe for that matter. The group of people suffering from the disease is simply too small (Kaya is the one of eleven in the Netherlands). In Columbus (Ohio, USA) research at the NationWide Children’s Hospital has meanwhile resulted in a, still experimental, treatment using gene therapy. Kaya has been included in the second trial group to test the medicine. The treatment consists of the introduction of ‘healthy’ genetic material into the body, which will hopefully replace and overwrite the genetic faults in the DNA of participating patients. If successful the treatment will stop further progress of the disease.
The trial will be monitored by the Federal Drug Administration, the government body that checks the development and use of medicines and medical treatment in the USA. Approval in the USA is a first and major step in the introduction of this new treatment worldwide. The purpose of the treatment is to stop further muscular deterioration. In the first trial five people have been treated. In all of the patients the progress of the disease has been halted and three have even shown signs of increase in their muscles.
More information on the disease and the trial can be seen in the following video:
Kaya (who fences at fencing club Vivas) is part of the second trial in which the treatment is tested on patients in whom the disease is already further progressed.
While the LGMD2D-disease has a different genetic marker than Duchenne, the progress of both diseases and especially the day-to-day problems the patients face, are very much the same. The following documentary “Duchenne with a future” provides a good image of what living with muscular dystrophy entails: a life full of meaning and especially with an – ever increasing – future!
For Duchenne the search for a cure – through gene therapy or otherwise – is still ongoing. It may very well be that the LGMD2D-treatment will be of future relevance here too, who knows …
So: Join us fencing!