Search

 Marlon with parents
Marlon, with parents
Marlon was diagnosed with classic MSUD at three days of age, through the newborn screening available to all newborns in the state of Alaska. Before we could notice any of the signs that he was showing, (lethargy, stiffness in his body and lack of appetite), the pediatric office contacted us to inform us of his diagnosis. Marlon was the first newborn ever diagnosed with MSUD in the state of Alaska, so getting the right treatment was difficult. To keep Marlon metabolically stable on the first days of his life we needed the special MSUD formula and right IVs. He was hospitalized right after he was diagnosed with MSUD, but the formula was sent by mistake to a far away city in this same state. It took 2 days for the formula to reach us, and by that time Marlon’s leucine levels were higher than 1900. Marlon had to be med evacuated in a jet from Anchorage, Alaska, to Seattle, Washington where he would undergo hemodialysis. He would remain in Children’s Hospital of Seattle during 16 days until his amino acid levels become normal and stable.

The initial crisis was the worst that Marlon suffered in the four and a half years that he lived with MSUD. Several crises followed that one due to common childhood viruses, such as the Rota virus. During those crises he was able to receive treatment in the local hospital in Anchorage. He recovered fine from all of these episodes, but we always wondered if there had been neurological damage.

When Marlon was two years and a half we visited Spain, my home country. Marlon started showing severe signs of ataxia. We tried to control the elevated leucine levels by supplementing his MSUD formula with isoleucine and valine. Although we kept him hydrated and drinking his daily formula, the ataxia continued and became each day more severe. He was hospitalized in Spain but MSUD was unknown there and we soon saw ourselves trying desperately to get out of the country to get back to Alaska to seek treatment. I never felt like I could take Marlon back to Spain again safely since the last experience was very frightening for us.

It was around that time when the first liver transplants were done to MSUD children to free them from the symptoms and risks of living with MSUD.

When Marlon was about three years old we decided we would look for a surgeon who would be knowledgeable in MSUD and who would be willing to transplant Marlon. Many months went by searching the way to plan a transplant for our son. Many phone calls, petitions for insurance coverage, appeals, and long trips out of the state of Alaska continued for months. Finally we were able to plan a liver transplant evaluation for our son in Seattle Children’s Hospital. On February 18th, 2005 Marlon was officially listed to receive a liver with a score of 40 points. We would have to wait 13 more months for a liver transplant. In the early hours of March 30th, 2006 we received the so long hoped for phone call that would announce that there had been a donation that was the perfect match for Marlon. In the next few hours we underwent many emotions, a flight to Seattle, preparations at the hospital, and a meeting with the Chanel King 5 TV team. Marlon went into OR at 12:15 am on March 31. It was a long night, and at 8:30 am we were told Marlon’s transplant had been successful and he was heading to the PICU. He would be hospitalized for 19 days. The first two weeks were filled with progress daily, but during the second week he had an episode of rejection that required the appropriate treatments and delayed Marlon’s recovery. He responded very well to the treatments and he was released from the hospital on the 19th day post transplant. We would live in a nearby hotel for 6 more weeks to be able to attend clinics and post transplant checkups.

The following months after receiving his new liver Marlon would keep progressing with a normal diet, no more restrictions, no more low protein products or MSUD formula. He was able to start preschool 6 months post transplant. One and a half years post transplant Marlon suffered again from rejection of the liver. We had to travel to Seattle again to be able to give him the appropriate treatments. He responded very well and promptly and once his liver functions were normalized we traveled back home in Alaska.

Nowadays Marlon lives a life free from MSUD. He just turned eight years old, he attends a regular school and he is in second grade. He is learning how to ski on the slopes where his dad learned as a child. He dreams of becoming a surgeon, learning from Dr. Reyes (his transplant surgeon). Until not long ago he would give transplants to all of the super heroes in his collection. He loves to draw, watch movies, he speaks English and Spanish fluently and he is on third year of piano. He loves to travel and visit his family in Spain, where we spend two months every summer to enjoy the Spanish culture, to have some quality time with family, practice the language, and of course, enjoy the Spanish Mediterranean diet, in particular seafood and legumes, which Marlon loves with passion. He now is able to spend hours in the warm and sunny beaches of Spain without suffering from a metabolic crisis, and he is able to stand the many degrees below of the cold winters of Alaska with no consequences.

We are eternally thankful to those who were pioneers on the cure of MSUD through liver transplants, thankful for life to the surgeon and our hero, Dr. Reyes, Chief of Transplant Surgery at University of Washington, Seattle. And most of all thankful to a family who, while they lived a tragedy, showed the biggest gesture of generosity that someone can ever think of, the donor family.

---------

Marlon fue diagnosticado con MSUD a los tres días de edad a través del test neonatal que se practica a todos los recién nacidos en el estado de Alaska. Antes de que nos diésemos cuenta de los síntomas que presentaba (letargia, rigidez del cuerpo e inapetencia), nos contactaron de la oficina pediátrica para informarnos de que tenía MSUD. El estar en Alaska y el ser el primer niño diagnosticado con esta enfermedad metabólica en el estado dificultó mucho el tratamiento adecuado en los primeros días de vida. Tras ser hospitalizado en nuestra ciudad, la fórmula para MSUD fue enviada por equivocación a una lejana ciudad de Anchorage, también en el estado de Alaska. Dos días pasaron hasta que la fórmula por fin llegó al hospital donde se encontraba nuestro hijo. Cuando la recibimos los niveles de leucina de Marlon superaban los 1900. La crisis metabólica inicial fue la peor que sufrió en los cuatro años y medio que vivió con esta enfermedad. Marlon tuvo que ser evacuado via jet del estado de Alaska al de Washington para poder recibir hemodiálisis. Permanecería en el Children’s Hospital de Seattle durante 16 días hasta que sus niveles de aminoácidos se normalizaron. Sufrió varias hospitalizaciones a causa de las crisis metabólicas que se le presentaron como consecuencia de virus comunes infantiles, como el rota virus. Durante estas crisis pudo recibir los cuidados necesarios en el hospital local de Anchroage. De todas las crisis salió bien, pero siempre nos quedábamos con la incertidumbre del no saber a ciencia cierta las secuelas que estas crisis pudieran haber dejado en Marlon.

A los dos años y medio y cuando nos encontrábamos en España visitando a nuestra familia, Marlon comenzó a presentar severos síntomas de ataxia. Intentamos corregir los elevados niveles de lucina suplementando con valina e isoleucina, y a pesar de que ésto nos ayudó a mantenerle con apetito, tomando su fórmula de MSUD, la ataxia no sólo continuaba sino que seguía haciéndose más severa.

Ante el desconocimiento de los tratamientos para las crisis metabólicas de MSUD que había en los hospitales de la región que visitábamos, nos vimos obligados a viajar de regreso a casa, Alaska, semanas antes de lo previsto. Nunca más me sentí con las fuerzas ni el valor de viajar con Marlon fuera del país, ya que la última experiencia había sido sumamente aterradora, y con ésta se truncaba la posibilidad de volver a visitar a mi familia. Por aquel entonces comenzaban a hacerse transplantes de hígado a pacientes con MSUD para librarles de la sintomatología y riesgos de MSUD.

Cuando Marlon contaba unos tres años nos dispusimos a buscar un cirujano que estuviese dispuesto a transplantar a nuestro hijo. Siguieron meses de investigación, llamadas telefónicas, peticiones al seguro médico y viajes largos fuera del estado de Alaska, hasta que al fin logramos una evaluación para un transplante de hígado para nuestro hijo en el Children’s Hospital en Seattle, estado de Washington. El 18 de febrero del 2005 Marlon entraba oficialmente en lista de espera con una puntuación de 40 (máximo). Siguieron 13 meses de larga espera por el órgano adecuado para nuestro hijo. Y fue en la madrugada del 30 de marzo del 2006 cuando sonó el teléfono para alertarnos de que había una donación pediátrica compatible con Marlon. Siguieron horas de muchas emociones, vuelo desde Alaska a Seattle, preparación en el hospital, equipo de cámaras del canal King 5 y finalmente ingreso en el quirófano a las 12:15 am del 31 de marzo. La noche entera pasaría lentamente hasta que a las 8:30 de la mañana nos dieron la noticia de que el transplante de Marlon había sido un éxito. Siguieron 19 días de hospitalización. Las dos primeras semanas fueron constantes progresos, pero un pequeño rechazo de órgano retrasó la recuperación. Tras recibir los tratamientos adecuados Marlon era dado de alta en el hospital a los 19 días de su transplante. Por 6 semanas permaneceríamos en un hotel en la ciudad de Seattle para atender a las clínicas y revisiones post transplante. Siguieron meses de recuperación, progresos en la dieta, totalmente normal tras recibir su hígado, y disfrutando de una vida sin síntomas de MSUD. Comenzó su escolaridad a los 6 meses del transplante. Al año y medio del transplante Marlon sufrió una elevación en las funciones hepáticas necesitando otra hospitalización para atajar el rechazo. Respondió óptimamente a los tratamientos y volvió a la normalidad.

El día de hoy Marlon vive sin MSUD, acaba de cumplir 8 años, atiende al colegio con niños de su edad, está aprendiendo a esquiar en las pistas de ski donde su padre aprendió de niño, sueña con ser cirujano y dueño de un restaurante en el futuro, practica transplantes en su sala de operaciones a todos los super heroes de su colección. Le encanta dibujar, ver las películas de moda, habla dos idiomas con fluidez, está en tercer año de piano y en segundo grado en su escuela. Le encanta viajar y visitar a su familia española y pasamos cada verano en mi tierra natal para disfrutar de la cultura materna, conservar el idioma y cómo no! para disfrutar de la culinaria de España, la favorita de Marlon, a quien le encantan los mariscos y legumbres de la dieta mediterránea. Puede pasar horas en las calurosas playas de España sin desarrollar una crisis metabólica, o aguantar los muchos grados bajo cero durante los fríos inviernos de Alaska sin sufrir consecuencias metabólicas.

Hoy en día estamos eternamente agradecidos a aquellos que fueron pioneros en investigar la posibilidad de una cura para MSUD a través de un transplante hepático, agradecidos de por vida con el cirujano y nuestro héroe, Dr. Reyes, Jefe del Departamento de Transplantes del Children’s Hospital de Seattle, y sobre todo a la familia que en medio de su desgracia tuvo el mayor gesto de generosidad que alguien pueda tener, la familia donante.

Galen Carrington Classic MSUD age 27

Galen Carrington is a 27 year old Indiana resident who has classic MSUD. He underwent liver transplantation 5 years ago at Children’s Hospital

Read More

Cambrooke Foods Hosts Local Event

Cambrooke has been doing cooking demonstrations, social meet ups and educational events for patients, their families and the clinician’s that support them for many years.

Read More

NBS-MSUD Connect: Advancing MSUD Research And More

NBSCONNECT.ORG

Rare disease registries have received attention in recent years because of the many ways in which they can benefit the rare disease community.

Read More

Sweet Odyssey

Artur Santos was born on January 18, 2002, the second son of Soraya and Idario Santos. They never imagined how their lives were about change as the second baby arrived.

Read More

Our Story

On April 23 2015, our precious firstborn son Eliyahu Tuvia was born in Jacksonville, FL. All seemed well and we took our bundle of joy home.

Read More

From The Editor

Hello to my MSUD family! The power of this family hit home this summer, when Hannah (Classic MSUD age 23 years) and I visited Israel.

Read More

Transform

A Child's Life

Subscribe to our mailing list

Signup To Our Newsletter Signup with your email address to receive news and updates