Charlie's Angels - GenetAssist Style

When we first met Gladys, our new best friend, she commented that the three of us remind her of Charlie's Angels.  Here are the photos... you decide.

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.

Day 6

Today we got off to an early start. We left Antigua at 7 am, in order to make it to our appointment in Solola at 10 am. Solola is a much more rural area than what we have been exposed to thus far. We met at Hospital Nacional Juande Dios Rodas Solola, with a team of health professionals that included, the executive director of the hospital, the associate director, a pediatrician, an obstetrician, and a social worker. It was a relatively informal round table chat, about the state of health care and genetics in the Solola region.  We explained our project and the genetic counseling profession and opened it up to a question and answer session. We learned a number of things from our discussion:

1. Patients present late to prenatal care, often in the 8^th or 9^th month, limiting options for treating a congenital condition
2. When a congenital or genetic condition is detected at birth (which is the most common scenario) patients are often lost to follow-up. Patients have no money for treatment and no transportation to get to appointments. There are also often many children at home, making it difficult to return for follow-up care
3. Pregnancy after the age of 35 is very common. In fact, many women have 3 or 4 more children after age 35
4. The organization of public health centers in Guatemala is as follows:

-       Reference Hospital (Various specialties)

-       Regional Hospital (General Hospital)

-       Permanent Health Centers (24 hour assistance)

-       Centros de Salud (Doctors and professional nurses only)

-       Puestos de Salud (Only nurses assistants, most accessible)

The prevalent disorders, according to these health professionals are: neural tube defects (NTDs), hydrocephalus, congenital hypothyroidism, Down syndrome, and trisomy 13

We also learned a lot about the cultural beliefs and norms of indigenous women in this region:

1. Young pregnancy is most often due to rape and incest. The medical director described a 10 year old pregnant girl as a “baby having a baby”
2.  Many women will not take prenatal vitamins or folic acid for fear of having too large a baby, and not being able to give birth naturally
3. Some believe karma is a cause of congenital conditions
4. Some couples believe congenital conditions are the result of having a baby out of wedlock, and will marry in order to prevent/heal a sick child

Their suggestions/recommendations were as follows:

1. Perform a 10-year retrospective study to identify births in which children were born with a genetic condition or birth defect, in order to identify the most prevalent conditions in the Solola region
2. Use the information gathered from the abovementioned study, in order to petition the government for support in order to establish a genetics clinic in Solola
3. Establish a genetics clinic with health professionals trained in genetics

The hospital

The team at Hospital Nacional Juande Dios Rodas Solola

After our meeting, we approached various patients inside/outside the hospital and asked them to complete a survey about genetics. Despite our efforts to translate our survey, many of them could not read or write in Spanish. Therefore our interpreter (Gladys) and Dr. Ruiz had to read each question aloud. We will discuss the results of these surveys in an upcoming post!

Gladys surveying a family

In the afternoon, we took a mental health break and visited Lake Atitlan. It was a beautiful day and the views were absolutely incredible! Between the three of us (Ny, Lindsey, and Gillian) we have about 5000 pictures of the trip, including the lake, that we will be sure to share with you later. 

Solola

Lake Atitlan

Lake Atitlan

Adios!

The GenetAssist Team

Day 5

Our day started with a trip to the Valhalla macadamia nut farm in Antigua for breakfast, a spot recommended by Gladys. We met the owner of the farm, Lorenzo, a charismatic individual who joined us for breakfast and shared with us life lessons. We learned that the macadamia farm provides income and nutritional benefits for local farmers and has a positive impact on the environment. One macadamia tree reduces approximately 30 pounds of carbon per year, thus counteracting the greenhouse effect. Lorenzo has also used macadamia nuts to develop an oil for reducing the signs of aging. Caroline had the opportunity to try out "Lorenzo's oil" during her complimentary facial!

One thing that struck us was Lorenzo's commitment to bringing the positive effects of macadamia trees to other parts of the world. He has currently planted 500,000 trees and his goal is to plant 5 million worldwide. The farm's motto is: "Let's make planet earth our church and protecting it our religion." Each visit to the macadamia farm contributes to this goal. Please check out their website for more details: www.exvalhall.net

Lorenzo and the team

Our next stop was to the Hospital Nacional Pedro de Bethancourt, a public hospital in Antigua. We met with Dr. Waldemar Guerra, the head of pediatrics. One of his main concerns was the lack of reliable diagnostic tools. The small number of tests that can be performed by local laboratories may not even give accurate results. He also spoke of the current internship program with medical students from Baylor College of Medicine, who come to Guatemala for 2 months to work in the hospital. He says that he learns a great deal from these students and envisions the possibility for genetic counselors to do a similar program. He believes that genetic counselors are needed "in the battlefield" and that health care in Guatemala should focus both on genetics and infectious disease - one should not take precedence over the other. Dr. Guerra also described the Participant Mother Program that encourages mothers to stay with their children in the hospital while they are treated, to breast feed and care for them. The mothers are also given lectures each day by physicians, nurses, social workers, psychologists, and nutritionists, centered around breast feeding, rehydration/diarrhea, bronchial infections, and vaccines. We had the opportunity to tour the facility and meet some of the mothers and patients, while learning about how the hospital operates. The pediatric intensive care unit was particularly emotional for each of us, due to the critical state of the patients. We further met with a head nurse to discuss the current treatment of patients with genetic conditions and the education and role of nurses in the hospital.

With Dr. Guerra before entering the ICU

Finally, we headed back to Guatemala City for a meeting with the board of directors of Colegio de Medicos y Cirujanos de Guatemala. They are the governing body for all of the doctors in Guatemala, who must register with them before practicing medicine. We discussed our project in detail and asked many questions about the current education of health care professionals, prevalent genetic conditions, existing public health programs, and active research projects. The board recommended people for us to get in touch with to achieve 3 goals: 1) perform research to identify the most prevalent genetic conditions in Guatemala, 2) train doctors to diagnose these genetic conditions, 3) train genetic counselors to speak with those diagnosed and their families. At the end of the meeting the board granted us their support with our efforts in Guatemala and offered their assistance in the future.

Day 4

Today we met our interpreter and guide, Gladys Teos, for the first time in person! What a lovely woman she is. We started off the morning by heading to Guatemala City, which is about an hour away from Antigua.

Dr. Ruiz had arranged for us to meet with Dr. Julio Rafael Cabrera at Hospital Universitario Esperenza (Hope Hospital), which is a private hospital in Guatemala City. Dr. Cabrera is the head geneticist at this hospital, and teaches one of the 2 genetics courses available to medical students in Guatemala. Genetics is not normally included in medical school curriculums in Guatemala. Dr. Cabrera did his training at the Childrens Hospital of Boston, and feels very strongly that doctors in Guatemala should be educated in genetics. His main message to us was that he wants to begin a genetic counseling training program through the medical school at the University of San Carlos. We also discussed that if this was not possible in the short term, another avenue would be to train nurses, social workers, or psychologists in genetics.

Dr. Cabrera is very enthusiastic about genetics and it seems as though he provides high quality care to his patients. However, he works in a private hospital, and professionals like him often do not exist in the many public hospitals in Guatemala.

Dr. Ruiz, Gillian, Dr. Cabrera, Caroline, Ny, Lindsey

Outside of the Hospital

Coincidently, 2 members of the Guatemala Fragile X foundation arrived to meet with Dr. Cabrera just as we were leaving. They were there to discuss their plans for opening a Fragile X clinic at Hospital Esperenza. These women were coordinators for a Fragile X screening program in Guatemala. Over the last 3 years, 162 patients were screened, and 38 results were positive. The purpose of the future clinic is to provide these patients and their families with result consultations and connect them to recently available therapies. We had a chance to sit down with them briefly and hear their personal experiences with Fragile X. They had very strong views about the joys of raising a child with Fragile X. They referred to this diagnosis as a gift from God, and they are better people because of it. These views seemed to influence their attitude towards prenatal diagnosis of Fragile X, and reproductive options.

Lunchtime conversation centered around the treatment of Spina Bifida in Latin America, with Dr. Graciella Mannucci, a native of Argentina who has been practicing in Guatemala City for 10 years. She showed us pictures of her new clinic, and expressed her frustration at not having the human resources to staff it, thus the brand new clinic remains unused. She also indicated that prenatal diagnosis is not utilized for families at risk of having a second child with this condition. They indicated to us that since Spinda Bifida is a treatable condition, continuing a pregnancy is the only legal option.

GenetAssist and the Spina Bifida team

Our next stop was the auditorium at INCAN (Instituto Nacional de Cancerologia de Guatemala), for a formal presentation by Dr. Eddy Gonzalez, the project director for Unidad de Genetica Humana. As one of the first Guatemalan students to recieve a scholarship to study medicine and genetics in Spain, Dr. Gonzalez has returned after 7 years to develop genetic services throughout Guatemala. Services areas include: dysmorphology, infertility, prenatal diagnosis, hereditary cancer, and personalized medicine. Dr. Gonzalez says that 60% of his goals have been completed over the 10 months that he has been working in Guatemala. This is largely due to partnerships with many countries, including Mexico, the United States, the United Kingdom, and Spain. 

Two weeks ago, Dr. Gonzalez opened the doors to the first cancer genetics clinic in Guatemala, focusing on breast, ovarian and colon cancers. The only other available cancer genetics clinics in Latin America are located in Mexico, Argentina, and El Savador. So far, he has seen 3 patients for assessment of hereditary susceptibility to cancer. He follows a standard protocal for the management of hereditary cancers. 

He shared many personal thoughts with us regarding the challenges of starting genetic services in Guatemala. Here are a few memorable quotes:

"...with this dark picture [no genetics education], we still have everything to do."

"I am only one man with 2 hands and one head... and my head doesn't work very well!"

"Health professionals think genetics is science fiction."

"At a conference, the American speaker starts with a joke, the European starts with a phrase, and the Latin American starts with an excuse!"

There are 2 main reasons why there is no interest in genetics from health professionals in Guatemala:

1. They don't know about it

2. They are resistant to change

GenetAssist at INCAN

On a final note, it was a rollercoaster of a day in terms of the emotions that we experienced. One minute it was overwhelmingly sad and the next, upbeat and optimistic. It is very encouraging that all of the individuals we have met with so far share the passion for genetics that we do, and are all interested in the help that GenetAssist can provide.

To end off a very satisfying day, we enjoyed a delicious Guatemalan meal with Lindsey and Gladys' fathers! 

Dinner entertainment

Diners

Until next time,

The GenetAssist Team

Day 3

Today we finally got to meet the woman who brought us here to Guatemala, Dr. Marta Julia Ruiz. The day began with a tour of Population Council's headquarters in Antigua. To review, Population Council is the organization that sponsors Abriendo Oportunidades, a program that brings education and skills to young, Mayan girls. Dr. Ruiz is the inspiration for this project, having grown up in an indigenous community herself. Her passion is for improving the lives of Guatemalans by educating younger generations and expanding health care services.

We reviewed our agenda for the week, which includes visits to specialty clinics and hospitals all around the highlands. Dr. Ruiz shared with us some of her past experiences with genetic diagnoses. In particular, she recalled the difficulty with explaining the diagnosis of Down syndrome to a family. She did not feel that the  mother truly understood the cause of Down syndrome or the therapies needed for a special needs child. Dr. Ruiz feels that a genetic counselor is needed to communicate the message of the diagnosis from doctor to patient in Guatemala. She would also like us to educate doctors and midwives about the appropriate way to give bad news.

We further discussed the role of midwives in Guatemala, and the fact that 80% of deliveries are performed under the care of a midwife and not in a hospital. Most midwives enter into the profession as part of a family tradition and do not receive much formal training. Dr. Ruiz feels passionate about implementing guidelines for training midwives and incorporating their services into the health care system. This is the goal of the current ministry of health and a potential area of focus for GenetAssist on future trips.

We laid out the expectations for this trip and our ongoing collaboration. Dr. Ruiz has two main goals: 1) To prevent genetic disease through education, 2) To provide better services for those born with genetic conditions and birth defects.

Our fearless leader at Population Council headquarters

Our next meeting was at the office of Dr. Rodolfo E. Asensio. He is a surgeon at Centro Infantil De Estomatologia who focuses on cleft lip and palate repairs. He repairs roughly 40% of all cleft lips/palates in Guatemala. The surgery technique he uses was developed by his father 44 years ago, and has been named "Asensio". We discussed Dr. Asensio's interest in genetics and how he feels Guatemalans understand cleft lip/palate. We further explored how the cultural beliefs of the people inform this view. Dr. Asensio feels that cleft lip/palate is a major public health concern, affecting 1/600 births in Guatemala. There is a lack of support from the government for management of this birth defect.

The team with Dr. Asensio and Dr. Ruiz

Our day ended with a hike up Cerro de la Cruz with breathtaking views of Antigua.

Tomorrow we are going to Guatemala city to tour four hospitals, including one that specializes in cancer.

Hasta luego,

GenetAssist

Day 2

We have had a great day thus far! We have walked for hours all around Antigua, taking in the sites, sounds and smells. One of the highlights was a cafe/nursery full of warm weather flowers and plants:

We also stumbled upon a fantastic local market, with everything from mango on a stick to cellphones and housewares.

The rest of the day was spent familiarizing ourselves with the area, and taking in local culture. 

So today was our last day for play! Tomorrow we get down to business surveying health services in this area.

All throughout Antigua there are inspirational quotes on the walls of restaurants and on signs in front of houses. Here's the quote of the day:

Until tomorrow,

The GenetAssist team 

The whole team is here!!

Hola!

Lindsey and Gillian arrived late last night in Antigua, to a breathtaking city and hotel! We had quite the interesting trip from Costa Rica, where we were vacationing for a week. The first flight from Tamarindo was the smallest plane either of us had ever been on... a 12 seater.

Our plane!

The airport was basically a wide open field, with a small tin-roof building for shelter from the sun. When we requested "dos cervezas" to ease our nerves about the flight, a small Costa Rican man had to stop milking a cow in the field in order to retrieve them for us.

After the first flight, the rest of our trip was very smooth and uneventful. This hotel, The Cloister, is the most beautiful place. We just had a delicious breakfast and are writing this blog from here:

Our view

Today we are off to sight-see... adios amigos!!

Gillian and Lindsey

Day 1

Ny and Caroline are here. We arrived after an uneventful flight to a beautiful day.  Our travel through customs was clean and painless.  Guatemala city is big, busy, and unattractive.  Our driver, Mario was very friendly and easy to understand.  The closer we got to Antigua, the prettier it got.  Antigua is what we expected: quaint, manageable, friendly, a mix of tourist and indigenous.  The streets are cobblestone and the drivers are like something you would see in New York.  The town is a mix of very old religious ruins, restaurants and tourist trades. Ny and Caroline walked all over the place. We found one hospital in our tour called Obras Sociales de Hermano Pedro, described as primarily a refuge for the handicap, elderly and abused, but we had difficulty finding the entrance.   Our hotel is a sanctuary with water fountains, chirping birds, and beautiful gardens.  We have fresh lemonade and breakfast everyday.  There are two dogs lounging around.  We’re off to a good start!

Guatemala City Airport

the crowded streets of Guatemala City

The Cloister Hotel

our hotel

our hotel

our room

the streets of Antigua

local color

one of many churches 

Parque Central

ruins

Welcome post

Hola,

Gillian, Lindsey, Ny and Caroline here! We are 3 second year genetic counseling students, and 1 genetic counseling program director, from Sarah Lawrence College.

Genetic counseling is a medical profession that focuses on providing both emotional and informational support to individuals affected or at risk for genetic conditions, and their families. Genetic counselors help people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease.

There are currently genetic counseling training programs available in 15 countries around the globe. Genetic counselors are available in these and other select countries. However, given that we live in a world with approximately 195 countries, it is clear that only a fraction of the world’s population has access to practicing genetic counselors. Countries without access to new genetic counseling graduates or established genetic counseling positions lose out on the benefits that the profession has to offer, such as access to reproductive and genetic health education.

Once we recognized that there was a global need for access to genetic services and counseling, we decided to create GenetAssist. GenetAssist is an organization of trained and culturally sensitive genetic counselors who will travel to countries in need of genetic services to assist with genetic education and service provision.

Dr. Marta Julia Ruiz, a native of Antigua, Guatemala, approached Caroline during a visit to Sarah Lawrence College. Her visit was part of a trip to the United States organized for her receipt of an award for humanitarian work on the Population Council’s Abriendo Oportunidades (Opening Opportunities) project. The Population Council is a nonprofit organization for youth and reproductive health. Dr. Ruiz spoke to Caroline about the lack of genetic counseling in Guatemala, and her desire to educate health care professionals in genetics and refine their existing programs.

Over the following months, we collaborated with Dr. Ruiz and her colleagues and organized an initial trip to Guatemala. This project will be the pilot program for GenetAssist! During our weeklong visit, March 19-26, 2011, we hope to: network with existing outreach organizations, form connections with health care professionals and perform a needs assessment. Thereby, hoping to create a plan of action to implement the requested genetics services.

Throughout our trip to Guatemala, we will use this blog to keep you updated on our day-to-day progress and activities. Stay tuned!!

-Gillian, Lindsey, Ny and Caroline