The following story was translated from a May-June 1997 issue of a metabolic bulletin published in Chile. The Aravena-Orellana family first contacted our organization in November 1997. They had heard about the MSUD Symposium planned for 1998 in Lancaster, Pennsylvania and were eager to attend. In a fax they told me they were collecting bottles to try to raise money to attend. With help from the MSUD Support Group, Manuel and Sarita and their daughter Maria Fernanda were able to attend Symposium '98. Sarita and Maria attended again in 2000.

"The love of Sarita and Manuel was very quick." Within a year after they met, they were married and Maria Jos? was born soon after. Eight years later, Jos? Miguel was born. Then followed the next pregnancy which was received with great joy.

On January 22, 1991, after a lengthy caesarean operation, a beautiful blue-eyed baby girl was born. They called her Mar?a Fernanda. Seven days later, she started having feeding problems. She would throw up after eating. Treatment was started. She was not very active. A lot of people said she was "just a little lazy."

Months later, she overcame the feeding disorder. Her weight and height were normal for a girl her age. The concern was forgotten by everybody except Sarita, who because of her child-caring job, sensed that something was wrong--that her daughter was "different." Mar?a Fernanda appeared to be autistic. She loved to play with little wheels that she would make turn and turn. She regressed from all her little achievements and, little by little, she started to isolate herself from the world around her. She underwent many exams, but nothing precisely defined her condition.

Two years later, the family was connected with the organization, Parents of Autistic Children. They were advised that Mar?a Fernanda was not autistic. It was recommended that she attend a nursery school to improve her language skills. With this help, Maria started to talk and develop social skills. Although Maria Fernanda seemed to be happy, Sarita and Manuel still had concerns.

One day in December, pale as a sheet of paper, Maria was taken urgently to the Van Buren Hospital in Valpara?so. Dr. Daniel Abumohor suspected a metabolic disorder and contacted Dr. Marta Colombo, a specialist in metabolic disorders. Fourteen days later, she got a precise diagnosis: maple syrup urine disease.

Sarita, sitting on a sofa when she heard the diagnosis, felt as if she was starting to sink and anguish took over her heart. She could only cry and cry. She walked for long hours and found herself at home waiting for her husband Manuel. The news she had to tell him was so overwhelming. Now what? And tomorrow? And in two more years?

Manuel just cried. The dinner table was the center of family communication, and now, with all the dietary restrictions Mar?a Fernanda had to keep, it would no longer function as such. Mar?a Fernanda was a "special" girl, and the process of becoming a "special" family was beginning: to learn from the pain, to build constantly, and to close ranks in order to confront with fortitude and much love this new way of life. Unexpectedly, a new path was opened and hope reborn. The family contacted the MSUD Family Support Group and were nurtured by their experience and solidarity, their will power and affection.


The MSUD Family Support Group is currently funding several research projects and we are proactively looking for researchers interested in developing new treatments or finding a cure for MSUD. Significant funding is necessary if we are to accomplish this goal.
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