Help This Congenital Myopathy Patient Get Access to Treatment

Written by Melany Sanchez

Hello, my name is Mélany, I am 18 years old and I am from Cuba, a very poor island in the Caribbean. I was born with Congenital Myopathy. It is an extremely rare neuromuscular disease caused by a genetic mutation and causes muscle weakness. In this disease muscle weakness typically progresses slowly and stops progressing upon reaching adulthood. People with this disease need to be cared for by multidisciplinary teams due to the multiple complications caused by muscle weakness and due to the weakness of the respiratory muscles, they are prescribed the use of 2 life support machines, a BIPAP (Bilevel Positive Airway Pressure) or Portable Mechanical Ventilator and a CoughAssist, to maintain carbon dioxide and oxygen at normal levels in addition to avoiding potentially serious complications.

In the country where I live there is no neurologist who knows about this condition and can treat me correctly. I have had a very poor quality of life and my life has been in danger. There is no neuromuscular center in the entire country. My muscle weakness has always been severe. I was born with marked muscular hypotonia and very little mobility. As soon as I left the hospital my parents took a trip to the capital of the country in search of my diagnosis and treatment.

There they did many tests and I was diagnosed with unclassified congenital muscular dystrophy when I was 3 months old in Havana, at the Institute of Neurology and Neurosurgery of Cuba. Throughout my childhood we went to the Institute of Neurology and Neurosurgery for treatment with the neurologist José Vargas Díaz who was the neurologist in charge of treating patients with muscular dystrophies, he never explained to us about my illness. We asked him many questions, but we never got answers.

source: Melanie Sanchez

 

I was never able to walk or stand, nor sit by myself. My symptoms were getting worse and at 3 years old I began to develop scoliosis that became severe. The orthopedists at the International Orthopedic Scientific Complex Hospital “Frank País” told us that performing spinal surgeries on patients with these diseases was too risky and would not really be worth it because it was not going to bring real benefits.

We opted to use an orthopedic corset but currently know that in other countries spinal surgeries are performed on people with neuromuscular diseases and they have excellent results. When I was 5 years old I also began to develop contractures in my arms, and at 10 years old I began to develop respiratory problems for which doctors had no clear answer. My respiratory symptoms began to rapidly worsen until they became critical, and I had many medical procedures that we now know were inappropriate.

 

When the internet service was extended to the population, we decided to search the internet about my disease. Finally, after 16 years of receiving that diagnosis, we found the non-profit organization CureCMD. Thanks to all the educational material on that website we were able to begin to understand the cause of many of my symptoms and what I needed to do to treat them.

I was also able to establish contact with the American neurologist Reghan Foley, who works at the National Institute of Health in Washington DC. She asked us for a lot of information, including the results from the tests that have been done on me in Cuba, as well as photos and videos from my birth to the present to be able to observe my symptoms. After seeing all that Dr. Foley deduced that I had been born with a titinopathy, a subtype of Congenital Myopathy.

Dr. Foley immediately tried to open a way to be able to send my DNA to the United States to confirm my diagnosis, but unfortunately it was not possible, so she contacted the Finnish doctor Bjarne Udd who specializes in titinopathies. He also deduced that I had been born with a titinopathy and he was willing to study my DNA and my parents’ DNA so I could confirm my diagnosis and find out what my specific mutation was.

 

We traveled to Havana to the National Rehabilitation Center “Hospital Julio Díaz” and they did a spirometry. The results said that I had severe respiratory failure, and my lung capacity was at 13%. I urgently needed full-time mechanical ventilation and I also needed to use the CoughAssist machine several times a day.

My carbon dioxide levels were alarming and many of the terrible symptoms I had lived with for years were caused by high carbon dioxide. Unfortunately in Cuba there are no CoughAssists, no hospital in the entire country has this machine. There are only a few BIPAPs in some hospitals, but they are only used in intensive care rooms for people who are intubated or who required an emergency tracheostomy.

After searching intensively on the internet I managed to get both machines donated through an American non-profit organization, Partners For World Health. I started to feel relief but I also began to have difficulties with the masks because they were not the right ones and they began to cut my skin.  They do not have the filters or hoses that I use, nor masks. We cannot buy medical supplements online either; we do not have access to Amazon or any online store, and in any case our credit cards are only allowed to pay for services and products within the island. I managed to get other masks through other non-profit organizations. These machines have filters, masks and hoses among other medical supplements that need to be changed regularly.

source: Melanie Sanchez

 

Currently Dr. Bjarne Udd is in contact with the National Genetics Center and the necessary procedures are being carried out to send my DNA and my parents’ DNA to Finland, the specific diagnosis is of utmost importance due to the rarity of this condition.

My manual wheelchair, which I cannot handle by myself, is very deteriorated and I cannot get another one because they don’t sell them. I can’t receive any from any institution because there aren’t any. I don’t have access to any other mobility device that is considered essential for people with my illness. There is no organization that provides support to people with neuromuscular diseases.

Problems with fuel and inflation make traveling within the country for medical appointments in the capital’s hospitals almost impossible. I continue to fight intensely every day to receive better medical care, but I get very few results. There is also no qualified nursing and caregiver service, which is considered essential for people with my condition. My parents are my only full-time caregivers.

In addition to all this, I also do not have access to education. When I reached the age where I had to start secondary school, they told us that there were no secondary teachers available for me. This is true throughout the country except in the capital, where there is a school for people with disabilities, but even in that school you only complete up to secondary education.

If I do not have access to my life support machines, I will die, and my health will deteriorate much more if I continue without receiving care from a multidisciplinary team specialized in my condition. I know about the Humanitarian Parole, the process for Cubans, Haitians, Nicaraguans and Venezuelans in the United States, but I do not have anyone who resides in the United States who can sponsor me. I really need to find someone who can sponsor us so that I can live in the United States, where I can rebuild my life, receive medical care, study and work.

I have been registered on the Welcome Connect platform of the non-profit organization Welcome US for approximately 3 months. People who wish to sponsor people from these countries register on that platform. In the case of the program for Cubans on that platform, of the very few people who have registered, none have wanted to help me.

I have written to over 30 non-profit organizations in the United States in hopes of finding someone who could and would sponsor me and my parents, but unfortunately, I haven’t been able to find someone. I think the only way I can find a sponsor is by spreading the word. I fought very hard to survive all these years without receiving proper medical care or having access to the life support machines I needed. I really wish I could live better.

Only please only with a humanitarian approach not a political or religious focus, that is the only requirement I ask for.

Thank you very much for your attention.

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