Help Diego Fight Mitochondrial Disease

This is the story of my son Diego, who at the tender age of 18 months, was diagnosed with Mitochondrial Myopathy with DNA deficiency and an abnormality in the TK2 gene. This is an extremely rare muscular disease so rare that in 2015 only 45 patients in the world where diagnosed with it. The symptoms of the disease usually begin during childhood. When they start to manifest, the person can suffer from progressive muscle weakness, loss of motor skills, have difficulty walking, chewing, eating, speaking and breathing, and develop problems with the heart, lungs bowels, and eye movement. 

Diego was born on September 18, 1989, weighing 5.12 pounds with a height of 49 cm. He was born as perfect as only he can be.  When he was 18 months, we began to notice that it was difficult for him to walk and that he complained of a lot of body pain so we took him to the doctor to understand what was happening.  Doctors had to perform several tests, before determining what was wrong. One of the tests performed was a CPK (Creatine phosphokinase) test which can be used to detect conditions that may cause muscles breakdowns. At the time, we knew little about this test, but we learned that CPK is an enzyme which is found primarily in the heart, brain, and skeletal muscle with normal levels being between 24 and 195. Anything above these levels, means that the muscles may be being destroyed. When the test results came back, Diego had a level of 648 CPK and with this he was diagnosed.  We were told that there wasn't much information about this disease because people diagnosed usually died around 7 years old but we didn't let this stop us or bring us down. 

Since 1991, we have been visiting as many doctors as possible, and Diego has been fighting against all odds to live and beat this disease. Through out his 25 years, Diego has had the CPK test performed countless of times, and it has reach levels of up to 6,500 CPK, but luckily in 2015 he reached a breakthrough. 

In 2014, we had the opportunity to visit Dr. Hirano in New York, who had begun an experimental trial that consists of bypassing the TK2 gene and we wanted Diego to be part of the patients accepted in this trial. In August 2015, we had the best news of our lives, we were informed that Diego got into the trial. 

Before starting the trial, Diego weighed 63 pounds and had CPK levels of 2,000. He used a CPAP mask 24 hours a day to breathe, used a wheelchair, and needed help to bathe, to get out of bed, and to get dressed. He couldn't lift his arms to brush his hair or his teeth, and trying to go up a flight of stairs was impossible for him. He could walk 140 meters in 6 minutes. 

Just after 6 months of being in the trial, his CPK came back with levels of 145. We couldn't believe this, it was the first time in his life that he did not have any muscle destruction happening in his body. 

After a year in the trial (August 2016), we couldn't believe the progress and result we were seeing. Diego weighed 68 pounds, he almost wasn't using the wheelchair, and he could lift his arms to brush his hair and teeth. He was able to go up 6 stairs, and even though he was still using the CPAP mask to breathe, he was able to breathe for himself for up to 3 hours. At this time, he was able to walk 310 meters in 6 minutes. 

After two years in the trial (August 2017), he could walk up to the second level of our house by himself and stopped using the wheelchair completely.  Now, he could dance, whistle, jump and walk 525 meters in 6 minutes. For the first time in his life, he weighed 70 pounds. His goal was to be able to drive. 

After almost three years in the trial, he weighs 72 pounds and uses his CPAP mask only at night. Because he is such a fighter, he was cleared to get driving lessons and got his driver license. I am so happy and proud of Diego!

Throughout this journey, we have done everything we can and have had the help of amazing people to cover 50% of the cost of the medicine that has helped Diego so much. The other 50% is covered by Columbia University. The cost of the medicine depends on the weight of Diego. In 2016, our cost (50%) was of $3,000 per trimester or $12,000 annually.  In 2017, it went up to $3,800 per trimester or $15,200. Now, the cost is $4,446 per trimester or $17,784 annually. 

We are trying to raise funds to cover the cost of the treatment for the next three years. If funds are raised that exceed the amount needed, the hope is that this can provide to further develop the medicine and studies to help cure this disease. 

There is no doubt that God has always been present

GOD BLESS YOU ALWAYS

Esta es la historia de mi hijo Diego, quien fue diagnosticado a los 18 meses con una enfermedad Miopatía Mitocondrial con Deficiencia en el ADN, y una anormalidad en el gen TK2.   Una enfermedad muscular sumamente rara, para el año 2015, solamente estaban diagnosticados 45 casos en el mundo.

Los síntomas de la enfermedad inician habitualmente en la infancia.  Y al iniciar a manifestarse el proceso, se empieza a manifestar con debilidad muscular progresiva, con pérdidas de capacidades motoras, incluyendo dificultad para caminar, masticar, comer, hablar, respirar, movimiento de ojos, problemas de intestinos, corazón, pulmones.

Diego nació el 18 de septiembre de 1989, pesando 5.12 libras con una estatura de 49 cm.  Nació perfecto como solo él puede ser.

A los 18 meses empezamos a notar que le costaba caminar, y tenía mucho dolor de cuerpo.  (1991)  En ese momento se le realizaron varios exámenes, uno de ellos llamado CPK.  También en este momento nos indicaron que su enfermedad era muy rara, que se conocía muy poco, porque normalmente morían alrededor de los 7 años.   Lo poco que conocíamos sobre el examen de CPK  es que indicaba que estaba muy alto, ya que contaba con 648cpk.

Con los años pasamos a saber que el CPK es una enzima que se encuentra principalmente en el corazón, cerebro y todos los músculos esqueléticos.  Los niveles normales van desde 24 hasta 195.  Este examen muchas veces se utiliza para determinar algún tipo de inflamación muscular, diagnosticar un infarto cardíaco o descubrir enfermedades de distrofias musculares.

A lo largo de los primeros 25 años de vida de Diego , se practicaron infinidad de veces el examen de CPK en y ha tuvo resultados de hasta 6,500 (altísimo).

En el año 2014, tuvimos la oportunidad de visitar al Dr. Hirano en NY, quien estaba iniciando a trabajar un tratamiento experimental con 5 pacientes, el cual consiste en hacer un bypass en el paso por el gen TK2, En este momento, Diego logró caminar 140 metros en 6 minutos.

Diego calificó para el programa,  e inició el tratamiento en Agosto del año 2015, a sus casi 26 años.

Inició el tratamiento pesando tan solo 63 libras.  Utilizando un CPAP para respirar 24 horas al día, utilizando silla de ruedas para movilizarse, necesitando asistencia para bañarse, vestirse y levantarse de la cama, no podía levantar los brazos para peinarse y lavarse los dientes.  Subir gradas era totalmente imposible para Diego.  En ese momento su CPK estaba arriba de 2,000 (sin estar enfermo)

6 meses después de iniciado el tratamiento, en Febrero 2016, su examen de CPK salió en 145, Primera vez en su vida que sale normal, y significa que no tiene destrucción muscular.

En Agosto 2016, un año de iniciado el tratamiento, Diego pesaba 68 libras, ya casi no utiliza la silla de ruedas, logra levantar los brazos para peinarse y lavarse los dientes, logra subir unas 6 gradas sin ayuda, y no necesita ayuda para bañarse ni vestirse, sigue utilizando el CPAP para respirar, pero lográ estar aproximadamente 3 horas sin el aparato.   Su Peso ahora es 67 lbs.  Y Logró caminar 310 metros en 6 minutos.

En Agosto 2017, dos años de iniciado el tratamiento, ya no utiliza la silla eléctrica para desplazarse al segundo nivel de la casa, ya no utiliza silla de ruedas para nada, baila, silva, puede brincar, y logró llegar por primera vez en su vida a las 70 libras y logró caminar 525 metros en 6 minutos, y utiliza el CPAP para respirar solamente de noche, y cuando está en casa descansando.   Ahora tiene metas, como poder sobrepasar las 70 libras, y que le den permiso de manejar.  

Agosto 2018, tres años de iniciado el tratamiento, le hacen exámenes neurológicos para revisar si puede manejar, y le dan el permiso, toma clases de manejar y logra sacar su licencia.  Su peso en este momento es de 72 lbs.  Ya no necesita ayuda para llevar su equipo de respiración, además que lo utiliza solamente de noche.   

No hay duda, que Dios siempre ha estado presente en la Vida de Diego, porque aunque en los momentos más difíciles y complicados, siempre logró salir adelante, siempre con una actitud positiva a la vida, y dando testimonio que los Milagros existen.   No nos cansaremos de agradecer la inmensa misericordia de nuestro Señor Jesucristo para con él, y también agradecerle a toda nuestra familia y amigos, que siempre están dispuestos a apoyarnos y ayudarnos.

DIOS LES BENDIGA SIEMPRE

  Diego beginning the trial:

Diego Now:

Diego before starting the trial: