Luis & Ivonni with son, Mario
At the end of January Wayne and I, along with another couple, left for Central America. Our main objective was to visit 2 of my cousins and 3 MSUD families. The one cousin of mine and her husband in Guatemala are the grandparents of a child with MSUD. Their son Frank Wade Martin and his family flew to Pennsylvania as soon as their suspicions were confirmed that their newborn daughter had MSUD. They moved their family from Guatemala to Pennsylvania soon after to be close to Dr. Morton's clinic so they could continue treatment for their daughter. They know of no other families in Guatemala with MSUD. There is no screening or treatment for MSUD in that country.

We stopped in Honduras for a quick visit with the Luis Villafranca family. Luis kindly picked us up at the airport in the evening and spent time with us in spite of an extremely busy work schedule. The second night we met with him, his wife Ivonni, and their son Mario, 5, who has MSUD. Although somewhat disabled, Mario was a very pleasant, happy boy, and it was good to see him looking so well. It was a pleasure to visit with this family and see a little of Honduras.

We then visited the Kropf family in Costa Rica. In this household, there are three older, unmarried girls who care for special needs children given to them by the country’s welfare department. Most of the 6 children they are caring for now are severe cases needing total care. One of these caregivers is Rebecca, who received Dwight, an Indian boy with MSUD, when he was 4 months old. He had an older sister Karla with MSUD who was in a foster home at the time. Rebecca did her best to care for Dwight with very little information on MSUD and called me frequently for advice. We advised her to attend a Symposium. The MSUD Family Support Group paid her expenses with the money allotted for that purpose from the United Services Foundation. She learned much at the Symposium in 2006 that helped her improve Dwight’s care and also has been instrumental in improving the care of other children in Costa Rica. She plans to write more details for a future Newsletter.

Rebecca (right) & Karla at Dwight’s grave
After Rebecca attended our Symposium, and learned about isoleucine and valine supplementation, she took some valine along to try. Dwight was already getting isoleucine but valine was not available in Costa Rica. Dwight made rapid progress after the supplementation. The doctors were impressed. It is still a problem to get valine, but when they can get some, the children all do so much better. Rebecca made some diet changes on her own, and Dwight developed into a very active, happy boy who was adored by the Kropf family and their friends. A school teacher who worked with him told me he was above average in some areas which was attested to by others. He delighted all those who knew him.

Last year Rebecca was asked to care for Dwight's sister, 7 year old Karla. She now had two children with MSUD and another severely handicapped child in her care. Dwight loved to play outside but was restricted to a certain area of the yard. In December, he was playing in the yard when Rebecca had to take Karla and another of their girls to the bathroom. It only took a few minutes, but long enough for energetic Dwight to get to a pond a little distance away and fall in. It was too late to revive him when they found the missing boy. No child can take his place in the family and especially for Rebecca who deeply mourns for her precious Dwight. He would have been 4 in January.

We are thankful we had the opportunity to visit this family and share in their grief. When Dwight died, Karla lost her appetite and lost weight. Currently she has gained a little weight but may have to have a G-tube inserted. She has had no hospitalizations since she is under Rebecca’s care. Karla is a sweet, pleasant child. She is somewhat disabled, hard to understand, and not walking yet. We are sure she will make progress under Rebecca’s good care.

Rebecca and her father stayed with us on our second to last night in Costa Rica in the capital, San Jose. We appreciated having them along to translate since we stayed with Emilia Diaz and her daughter, Andrea, who speak Spanish. Emilia was so generous to invite all six of us to her house for meals and overnight. Andrea is 19 years old and has MSUD. She is a beautiful girl with a great smile. She has had extensive leg surgery and can only walk with leg braces which she does not like to wear. She gets around well on her knees and her mother does a good job of carrying her when necessary. She also uses a wheelchair outside the home. Andrea finished high school and lives with her mother and her mother's cousin, Gaby. Gaby is a wonderful caregiver for Andrea, since Emilia works full time to support them. In spite of the language barrier, we enjoyed sharing time with them and eating Emilia's beautifully presented and tasty meals. She is a wonderful cook.

Gaby (left), Emilia (right) and Andrea (middle)
In Costa Rica there are currently 22 children living with MSUD. Emilia scheduled a tour of Tamizaje, the newborn screening center, and a meeting with their metabolic doctor, Dr. Saborio. He is quite knowledgeable about MSUD and acquainted with doctors involved with MSUD in the states. The three hours we visited passed quickly, and we enjoyed every minute of it.

The country’s screening program was impressive. Over 20 diseases are screened for throughout the country including MSUD. In remote areas where children are born in poverty, there are people designated to get blood from all newborns. At this center in San Jose they have the latest technology in processing the blood dots and detailed record keeping. Their screening program could be a model for other national screening programs. However, most of the children have some damage in spite of early detection. Personally I would attribute the damage to a lack of MSUD dietary knowledge and problems getting formula at times. We hope this will change, especially now that they have had their first dietary meeting with all the families. Rebecca will report on this recent event.

Dr. Saboria (left), Joyce & Wayne. Notice photo on wall of Dr. Guthrie who developed the newborn screening test and visited this center at one time.
Shayla stayed home when we traveled and did well in spite of a urinary infection. Her levels were good the whole time. Our trip was well worth the effort. The countries were beautiful and the weather comfortable. Our hosts all did a great job of sacrificing time and resources to make our stay a memorable one. May God bless them richly. We pray that all those with MSUD will have the opportunity to grow and develop as normally as possible in these countries.

Update: Mead Johnson was not able to send formula to Costa Rica in July and August. They have promised to resume shipments in September. Most of the families’ supplies were depleted and the children were in a desperate situation. Rebecca was again instrumental in getting an emergency supply of formula donated by Applied Nutrition. However, it took weeks before this could all take place and many children suffered.


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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