Support Mark to fight against Duchenne Muscular Dystrophy

I am raising the fund for my nephew Mark Penzes for this treatment to fight against Duchenne Muscular Dystrophy (DMD).

My nephew Mark live in Budapest, Hungary and got diagnosed with Duchenne Muscular Dystrophy DMD (exon 46-48) diseases in 2020. The shocking news was that for Mark DMD with exon 46-48, there was not any medicine or treatment which can stop or slow down the diseases until recently. Finally, there is a hope for my nephew Mark as recently in U.S. the FDA approved the medicine called Elevidys for gene therapy.

The cost, however, is extremely high: $2,897,228 (US Dollars). There is no way we can raise this money on our own, which is why we created the foundation, and we are asking for your help. All the money what I raising here will go to Mark Penzes Foundation.

We have a Facebook page where you can follow us, and we share update. Facebook page: Together for the recovery of Mark Penzes Foundation.

Márk and DMD diagnosis:

Mark has been significantly behinds with his motor skills by age 1, there were visible signs such as not sitting up or crawling, but the doctor ignores my sister concern and score him 100% for his one-year-old check-up in 2020. My sister Judit and her husband Csaba were not convinced with a result and decided to take him to further assessment.

After the private neurologist examined my nephew Mark, arranged more blood test which result came back with the creatine kinase level was over 100 times more than the normal value.

The doctor referred my nephew further to genetic specialist doctor who arranged specific blood test focus to genetic test. It was in 2020, in the middle of the Covid pandemic, and for a genetic blood test need it the same machine for analysis that was used to process Covid test samples too, so it took quite some time to receive the result.

The blood test was finally analysed and the diagnosis: Duchenne Muscular Dystrophy (DMD). The diagnosis was shocking for the whole family especially for my sister and her husband mainly, because at this time was not any available actual medicine which could help to recovery for my lovely nephew Mark.

Duchenne Muscular Dystrophy DMD:

DMD is a genetic disease, inherited from the mother’s side, and it mostly affects male children. Shockingly my nephew did not inherit from my sister, it was determined by the doctors after she had blood test, she was not a carrier, so this is a random mutation, not an inherited one.

The disease causes muscle cells to break down because the body cannot produce a protein necessary for stabilizing them. Most children with this condition end up in a wheelchair around the age of 10. Since the heart is also a muscle, and breathing requires muscle function, the disease is ultimately fatal.

There are symptomatic treatments for DMD that can slow down the degeneration, such as daily high-dose steroids, various physiotherapy exercises, stretching, plastic boots to stretch the Achilles tendons while sleeping, supplements, and other not-so-pleasant things. However, until now, there has not been an actual medication.

Now, a gene therapy is available in the U.S. called Elevidys, which was officially approved by the FDA (Food and Drug Administration). This gene therapy teaches the child’s body to produce a shorter but functional version of the missing dystrophin protein. It cannot reverse the damage already done but can stop further deterioration if administered early enough, ideally at an early age.

Mark and his parent life after diagnosis

The whole family was in shocked after the diagnosis received. Regularly Mark needs to go to hospital to check up, treatment week where daily observe him, doing several exercise to see if his condition getting worst or steady. Mark routine based on daily exercise to his muscle as he has extremely large calf muscles. Mark needs to take steroid medication, keep on eye on his diet, weight and wear plastic boots at nights. His lifestyle massively changes, as certain things he need to be careful like not using steps, get tired easily from longer walk so he still need buggy.

My sister and her husband since they got the diagnosis started the massive research if Mark able to participate any trial to option to find actual medicine but because he was so young most of the trial was from age 5. Also, most of the trial not based in Hungary mainly other countries like United Kingdom or U.S. They took a part of several webinars, following DMD organisation websites, Facebook pages and other platform in case any medicine became available for Mark. They make a peace in the diagnosis and focus on the positive things to still make Mark childhood memorable and not just focus on his sickness and treatments.

After long years and not much hope the medicine became available and approved by FDA in U.S.

Elevidys:

ELEVIDYS (delandistrogene moxeparvovec-rokl), a gene therapy for the treatment of Duchenne muscular dystrophy (DMD) for ambulatory and non-ambulatory individuals 4 years of age and older with DMD with a confirmed mutation in the DMD gene.

Elevidys is a recombinant gene therapy designed to deliver into the body a gene that leads to production of Elevidys micro-dystrophin, a shortened protein (138 kDa, compared to the 427 kDa dystrophin protein of normal muscle cells) that contains selected domains of the dystrophin protein present in normal muscle cells. The product is administered as a single intravenous dose.

www.fda.gov/news-events/press-announcements/fda-expands-approval-gene-therapy-patients-duchenne-muscular-dystrophyhy | FDA

Thank you for your attention and your support.