Gary is suffering from the rare disease Duschennes muscular dystrophy (dmd), which means that his muscles are gradually broken down and become weaker. The average life expectancy is between the ages of 25 and 30 years of age, and the disease occurs almost exclusively in men and boys.
It is the only medicine Mans can take advantage of in order to slow down the disease Translarna. However, the two times he received the drug is withdrawn – such as Translarna is not expected to have any real impact on the people who do not have walking ability.
Gary is a little over the past five years in a wheel chair.
”do not call " hi”
But on Monday, suddenly came a message, from PTC Therapeutics, the company who produce Translarna.
this is A message of hope, both for Gary and his family.
a number of studies have demonstrated that Translarna can certainly have a positive effect on the patients who are unable to walk. As a matter of fact, as noted by the european medicines agency's scientific committees (CHMP), which can lead to new recommendations.
" We do not call hello, as of yet. However, this is a fantastic development, and it feels like a big stone has fallen from my shoulders, " says Fredrik Rundqvist, Gary's father.
Gary Rundqvist is suffering from a rare disease, Duchenne muscular dystrophy (dmd), and sit there for five years in a wheel chair.Photo by: < / b> Private for Translarna, a drug produced by PTC Therapeutics.Photo by: < / b> Private Previous Next Exit fullscreen mode ”Felt very tired”
For his part, tells Gary that he will rejoice at PTC Therapeutics, recent news. He has been told that he will be allowed to retain their medication, at least until the end of the year.
"It's so nice that I might be able to get it for a few months," he said.
When a Mans got to Translarna withdrawn in 2018, he became rapidly worse and worse. So much so that he eventually needed to have a breathing mask at night.
" I was feeling very tired, and I didn't have a lot of energy. When I got to Translarna, again, I had no face mask, and lungvärdena better, "says Gary, who appreciate the positive response he is getting.
" I'm just glad the months and months, I'll continue to use Translarna. It will not help everyone, but it will be helpful to me. The best thing for me to do would have been to simply be able to continue using the product.
" Then maybe it doesn't help any longer after three years. So, I had three very good years.
DUCHENNE muscular dystrophy
Duchenne's muscular dystrophy (DMD) is caused by a deficiency of the protein dystrophin. The disease causes progressive muscle weakness and occurs almost exclusively in men and boys.
Each year, about 10 of the boys in Sweden are diagnosed with Duchenne muscular dystrophy (dmd). The total number of people living with the disease is not known, but the occurrence is estimated to be approximately 3 per 100 000 of the population.
Duchenne muscular dystrophy (dmd) is caused by mutations in the gene DMD, which controls the formation of (codes for) the protein dystrophin. The gene is on the X chromosome (Xp21.2), and is the largest gene in our dna.
In the case of Duchenne muscular dystrophy (dmd), one can get the symptoms of not only skeletal muscle but also in that of the heart, the gastro-intestinal tract and the central nervous system.
a : the national Board of health.View the merVisa off. READ MORE: , the Terminally sick, Gary, 17, and the medicine is withdrawn. READ MORE: " bob's rare diagnosis ”was hardly the in Sweden”news from SydsverigeSexologen: So, you have a position to keep the