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Hi, my name is Annette Orta, I am a proud mother of three children. The reason I am reaching out is for my 2 year old son Diego. We live in Puerto Rico and here I share with you part of his journey with an undiagnosed muscular disease.
At 3 weeks of age Diego began having difficulty feeding and would choke on his milk. He therefore began refusing feedings. Before he was 2 months old he was hospitalized as he could no longer feed, swallow and was having difficulty breathing. He had lost muscle tone and was not moving. Doctors were not sure he would make it. They began feeding him by a nasal tube and had him in an oxygen chamber for weeks. They believed he had SMA ( spinal muscular atrophy) and began many tests and studies which all came back negative. Still no exact diagnosis. All they know so far is that it is not SMA. One test determined it is not related to the nervous system. His condition is of the muscular system. Another test showed low levels of Carnitine, therefore he has been on this medication since, which helps his muscles receive energy. Before he was discharged a month and a half later, he had surgery to place a more long term gastric feeding tube directly into his stomach. He has been on therapies three times a week and frequent ongoing visits to his different doctors.
Diego is now 2 years old. At the age of 1year and 3 weeks he was able to crawl. He began taking steps at 1year 7 months. Although he is now able to walk, he falls and hits his head alot due to his muscle weakness he is unable to keep his head from hitting the ground. I hope he will soon be able to run and climb as children love to do. He eats about half of his food by mouth but not enough to sustain him, therefore he continues to get special feedings by his Gastric tube. We are very grateful for his improvements.
What is next? We need a diagnosis. It is needed in order to give him a more specific treatment. Therefore his doctors here at San Jorge Children's Hospital recomend sending Diego to Columbia University Hospital in New York to do more tests and a Muscular Biopsy, including a Chemical test that is specialized and few hospitals perform . We have changed our medical plan and now have additional monthly fees of three hundred dollars. We are also paying for two physical therapies and one speech therapy per week not taking into account all of the other doctor visits. Now in order to get theses studies and tests done we are flying out to New York on April 17, 2016 and the hospital told us we need to be there for 2 weeks, since he also needs to see specialists there.
We are asking for your help to help us pay for these medical expenses, Return flights to and from New York, two week stay at a guest house for patients and food.
Any amount, small or large, will help us get closer to finding a diagnosis for Diego and to finally be able to give specific treatments geared towards his condition.
We are thankful for any help received.
At 3 weeks of age Diego began having difficulty feeding and would choke on his milk. He therefore began refusing feedings. Before he was 2 months old he was hospitalized as he could no longer feed, swallow and was having difficulty breathing. He had lost muscle tone and was not moving. Doctors were not sure he would make it. They began feeding him by a nasal tube and had him in an oxygen chamber for weeks. They believed he had SMA ( spinal muscular atrophy) and began many tests and studies which all came back negative. Still no exact diagnosis. All they know so far is that it is not SMA. One test determined it is not related to the nervous system. His condition is of the muscular system. Another test showed low levels of Carnitine, therefore he has been on this medication since, which helps his muscles receive energy. Before he was discharged a month and a half later, he had surgery to place a more long term gastric feeding tube directly into his stomach. He has been on therapies three times a week and frequent ongoing visits to his different doctors.
Diego is now 2 years old. At the age of 1year and 3 weeks he was able to crawl. He began taking steps at 1year 7 months. Although he is now able to walk, he falls and hits his head alot due to his muscle weakness he is unable to keep his head from hitting the ground. I hope he will soon be able to run and climb as children love to do. He eats about half of his food by mouth but not enough to sustain him, therefore he continues to get special feedings by his Gastric tube. We are very grateful for his improvements.
What is next? We need a diagnosis. It is needed in order to give him a more specific treatment. Therefore his doctors here at San Jorge Children's Hospital recomend sending Diego to Columbia University Hospital in New York to do more tests and a Muscular Biopsy, including a Chemical test that is specialized and few hospitals perform . We have changed our medical plan and now have additional monthly fees of three hundred dollars. We are also paying for two physical therapies and one speech therapy per week not taking into account all of the other doctor visits. Now in order to get theses studies and tests done we are flying out to New York on April 17, 2016 and the hospital told us we need to be there for 2 weeks, since he also needs to see specialists there.
We are asking for your help to help us pay for these medical expenses, Return flights to and from New York, two week stay at a guest house for patients and food.
Any amount, small or large, will help us get closer to finding a diagnosis for Diego and to finally be able to give specific treatments geared towards his condition.
We are thankful for any help received.
Organizer and beneficiary
Fernando Davila
Beneficiary