Support with advice to help my son with deletion of exon 58?

Good evening everyone, I would appreciate if you can guide me with your comments and recommendations to help to the best of my son who is 7 years old, because in November last year was diagnosed with DMD, and recently through the test of MLPA , was diagnosed with deletion of exon 58, it would be nice to get your help, which I'll be forever grateful. If I can send e-mail addresses, names of doctors, hospitals or any person or institution that can get an answer for my son, please regaleme 2 minutes of your time to help me. My family, which is composed of my wife, my only son, and myself live in Guatemala City.

God bless you.

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Hello Eddy, my son Kyle also has deletion of exon 58. You are the first one I have found with the same deletion!!! We are from Ilinois in the United States and doctor with Dr. Katherine Matthews at the University of Iowa Children's Hospital in Iowa City, Iowa (USA).  Kyle was diagnosed when he was 5 (he is now 12). He has been on deflazacort pretty much every since then.  Deflazacort is a steroid comparable to prednisone but with fewer side affects.  We get this from the UK (Masters Marketing) as it is not FDA approved in the US.  Kyle also is on the Ataluren (PTC124) drug study which is hopefully in final phase of FDA approval.  Please let me know what else you would like to know.

Donna

Donna Good night, my wife and myself thank you for taking the time to answer our request. We would like that we could help, as parents we are still quite devastated by the news, somehow we have passed the stage of "acceptance", my son called Angel and fulfill seven years in November, (the only one), and what I ask and be very grateful if we can target to give my child a better quality of life as I can, especially getting you can maintain your mobility as many years as possible; We live in the capital city of Guatemala, in zone 21, now we took my son every Friday to therapy with a physiotherapist, Monday through Thursday will do exercises at home based on the routine that gives the physiotherapist, and exercises we have seen on page Duchenne parent organization of Spain; Saturday we took him swimming an hour, and on Sundays we let him rest; recently (10 days ago) has begun to wear splints during the day, but do not know if this is right ?, because the doctor told us as prevention to prevent your feet suffer deterioration: has already 3 years going to school , another year begins its primary, which face other older children, I would appreciate if you can tell me if we're doing it correctly.



Mujer dijo:

Hola Eddy, mi hijo Kyle también tiene deleción del exón 58. Usted es el primero que he encontrado con la misma deleción !!! Somos de Ilinois en los Estados Unidos y el médico con el Dr. Katherine Matthews de la Universidad del Hospital de Niños de Iowa en Iowa City, Iowa (EE.UU.). Kyle fue diagnosticada cuando tenía 5 (que es ahora 12). Él ha estado en deflazacort casi todos desde entonces. El deflazacort es un esteroide comparable a la prednisona, pero con menos efectos secundarios. Conseguimos esto desde el Reino Unido (Masters Marketing), ya que no está aprobado por la FDA en los EE.UU.. Kyle también está en el estudio Ataluren (PTC124) fármaco que es de esperar que en la fase final de aprobación de la FDA. Por favor, hágamelo saber lo más que le gustaría saber.

Mujer

Hi Donna, a pleasure to greet you, again requesting their support for my child, if you can tell me I can do to get my child to give the best quality of life, help me if I could share the routine to perform with kyle because, as you mentioned, for our part we give 5 milligrams daily Meticorten, 2 tablets of 50 mg Q enzyme, an approximate daily hour of exercise, the Saturday we took a swim 2 hours, and Sunday rest, if I could indicate whether we are on the right track, or is there something that needs improvement, and encouraging serious if I could tell if your child still has mobility in his legs, and as he has fallen Ataluren (PTC124), such information would be very useful for my family if I can help you in something, gladly.

Good evening Donna:

Pleasure to greet you again, I wish you help me solve a question, derived programs exon skipping, your Kyle son not assessed in order to qualify for this operation ?, I think it would be very helpful, as I have read online, I am very grateful if you could answer me this query.

Blessings to you and your family



Donna said:

Hola Eddy, mi hijo Kyle también tiene deleción del exón 58. Usted es el primero que he encontrado con la misma deleción !!! Somos de Ilinois en los Estados Unidos y el médico con el Dr. Katherine Matthews de la Universidad del Hospital de Niños de Iowa en Iowa City, Iowa (EE.UU.). Kyle fue diagnosticada cuando tenía 5 (que es ahora 12). Él ha estado en deflazacort casi todos desde entonces. El deflazacort es un esteroide comparable a la prednisona, pero con menos efectos secundarios. Conseguimos esto desde el Reino Unido (Masters Marketing), ya que no está aprobado por la FDA en los EE.UU.. Kyle también está en el estudio Ataluren (PTC124) fármaco que es de esperar que en la fase final de aprobación de la FDA. Por favor, hágamelo saber lo más que le gustaría saber.

Donna

Buenas noches Donna:

El placer de saludar de nuevo, me gustaría que me ayude a resolver una pregunta, programas derivados omisión de exón, su hijo Kyle no evaluó el fin de calificar para esta operación?, Creo que sería muy útil, como he leído en línea, estoy muy agradecido si usted me podría responder a esta consulta.

Bendiciones para ti y tu familia

 

Buenas noches, disculpe la insistencia, pero me le estariamos muy agradecidos con mi esposa, sinos puede ayudar, ya conseguimos el deflazacort, y ya iniciamos el tratamiento con el mismo, cambiando el prednisona, solo agradecere si me puede indicar como le ha funicionado a Kyle el Ataluren PTC14, si sus fuerzas motrices le permiten aun caminar, ya que el dia hoy he visto que salio una publicacion donde se menciona la eficacia que dicho medicamente tuvo en 500 pacientes, y pronto se pedira la autorizacion para su comercializacion a la FDA, por favor ayudenos. 

Saludos y Dios la Bendiga.

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