Day 7

Today was clinic day. We started off by visiting Dr. Cabrera at his genetics clinic at Roosevelt Hospital in Guatemala City. He holds this clinic twice per month and sees approximately 30 patients per month. Some of the cases he saw today included X-linked ichthyosis, Down syndrome and Ehlers-Danlos syndrome. These diagnoses are most often made clinically because Dr. Cabrera is limited to karyotyping only due to high costs of the technology. He was also accompanied by a fourth year medical student who we plan to follow-up with in the future. She seemed to have a good grasp of genetics and we provided her with materials to share with her fellow students, regarding spina bifida, congenital malformations, Down syndrome and other publications by the March of Dimes.

Our next stop was Hospital Nacional San Juan de Dios, a public hospital in a scruffy part of Guatemala City. We left all of our belongings in the car, so we do not have pictures to share with you. We toured Dr. Mannucci's as yet uninhabited, brand new spina bifida clinic, which was built through donations from the rotary club. It was in stark contrast to the existing clinic one floor below. The only child being treated by the neurologist was an eight month-old with severe hydrocephalus. He was being administered antibiotics to treat an infection following his shunt procedure. We also met a charismatic and flirtatious 10 year-old named Gabby. She was there because of an unidentified heart condition and had been there for one month so far. Gabby showed us tricks in her wheelchair and changed into a new hospital outfit for a picture with us and Michel, her medical student crush. We further had the opportunity to survey three mothers in this unit.

Next we had an impromptu genetic counseling session at the home of a Population Council employee. We met a young girl named Cindy and her father Jose and were told that Cindy's diagnosis was Charcot-Marie-Tooth. The life lesson of flexibility certainly came true today. We though we were learning about Charcot-Marie-Tooth in Guatemala, but their expectation was that we were going to explain the diagnosis to them. Awkward. However, we were able to explain basic genetic concepts including DNA, genes, and inheritance patterns. They seemed very appreciative of our discussion!

GenetAssist group counseling

Finally, we met with the rockstar of genetics in Guatemala, Dr. Silva. We had been hearing about him all week and finally had the honor of dining with him and his wife in Antigua. He shared with us the story of the development of his career in genetics and of the Instituto de Investigacion y Educaion en Infermedades Genetica y Metabolica (INVEGEM). He has spent 20 years devoted to the care of individuals with genetic disease in rural areas. Currently, he is developing a newborn screening plan that will be fully operational in the next 5 years.  He is planning on screening for hypothyroidism, congenital adrenal hyperplasia, PKU, cystic fibrosis, biotinidase deficiency, and galactosemia.  Based on the incidence of metabolic disease in Guatemala, he thinks he will be adding urea cycle disorders and beta-oxidation disorders in the future.  When we asked him what he felt was needed in Guatemala, he said education for medical students, nurses, psychologists, and social workers was key.  He offered his support.

Dr. Silva and his wife

Tomorrow we are headed home, but fear not, we have many topics to discuss.