Colombia Journal

Reflections on a Disability and Genetics Journey in the Wonderful Country of Colombia

November 2013

by Robert Miller.

With special thanks to my wonderful travelling companions Randi Hagerman, Louise Gane, Flora Tassone, Sergio Aguilar-Gaxiola, Maria Diez, Reymundo Lozano and Luis Carvajal, to Randi and Len Abbeduto for inviting me to be part of this incredible trip, to Sergio Villada for making it all happen, and to Katherine Hoyos Motta (and Maria, Rey, both Sergios and Luis) for the constant interpreting!

Assembled at the Sacramento, California International Airport, a crew of clinicians, researchers, counselors from the U.C. Davis MIND Institute, along with this intrepid writer, set off for Colombia to meet and collaborate with our colleagues there, addressing subjects such as genetics, disability, genetic counseling, and parent support. One lost laptop (Dr. Flora Tassone’s— located back at the check-in counter in the nick of time) and one lost sport coat (mine—dropped on the jetway but recovered upon my return), we took off for Bogota.

This was not an impromptu visit. Indeed, it was long in its planning. Ever since our friend Sergio Villada contacted us in 2005, and began attending National Fragile X Foundation international conferences and visiting the MIND Institute in California, he had been formulating his plans to bring experts from the U.S. to his country of origin. Sergio, who has a cousin with fragile X syndrome, was determined to improve the lives of those with the condition, in addition to other neurodevelopmental disorders, in Colombia. Through persistent and relentless effort, and the support of many, the time had finally arrived.

Dr. Randi Hagerman with Sergio Villada, conference organizer, in Bogota

Dr. Randi Hagerman with Sergio Villada, conference organizer, in Bogota

Since our first day happened to be a Colombian national holiday, we spent it viewing the natural beauty of the Bogota countryside and experiencing the genuine warmth of the Colombian people. A visit to the Salt Cathedral, truly one of the world's wonders, followed by a luncheon with representatives of the Montserrat Clinic (and an encounter with a chatty parrot on the grounds outside, who seemed to have Louise Gane’s number), made for a wonderful start to our eight-day visit. Irritating altitude headaches aside (8,600 feet in the Andes), we then got down to business.

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In the Salt Cathedral

         
Louise Gane and friend!

Louise Gane and friend!

Dial back Fragile X to the United States in the 1980s and you will have a sense of its status in Colombia today: the beginning of awareness, a sense of isolation, helplessness and hopelessness in families, and an enthusiastic idealism and creativity in a small cadre of professionals who are determined to improve the quality of lives of impacted families. (Not unlike the efforts of Randi Hagerman and the National Fragile X Foundation in the 1980s and 1990s.)

Fast-forward to the MIND in the 2000s and, once again, Randi Hagerman; American-based expertise combined with a respect for cultural sensitivities brought to bear on a country that, though vibrant and progressive, was still in the early stage of developing laws, regulations and a system of support for those with a disability.

The Great Debate

How better to relax after a day of giving scientific talks and meeting with numerous families at the genetics clinic, located at the National University in Bogota, than for everyone to gather in the hotel restaurant for a loud and spirited debate about how to respectfully visit a town with a, reportedly, exceptionally high incidence of Fragile X? Such was the case at the end of the first full day of work in Bogota. No one would argue that being culturally sensitive was important to the success of any research project, but our colleagues both from and knowledgeable about Latin America were persistent in making the case that an extra level of understanding would be needed, especially in the smaller towns we would be visiting. News travels fast in small-town Colombia and a platoon of American researchers descending on a town would certainly be news; especially when those researchers might be asking about family histories, or asking for blood samples. But that visit was still a few days away.

Maestria en Genetica Humana del la Universidad Nacional de Colombia – Bogota

Following the individual meetings with families, there were presentations for a mixed audience of professionals and families on topics ranging from mGluR antagonists to genetic counseling, and from mRNAs to parent support. Keeping in mind that, like parents everywhere, these parents were there to find help—now—for their child, the looks on their faces ranged from total bewilderment to anxious confusion. Parents will leave no stone unturned in their search for help, even if it means sitting through lectures designed for PhDs. And in a country that, relatively speaking, is in the early stages of developing disability awareness, this phenomenon will be more common than not. But the talks were well received and they set the stage for the days to come. 

Four-thirty in the morning: Off to the airport for the one-hour flight from Bogota to Cali. (And from a cool mountain climate to a warmer tropical climate.)

The Colombian Fragile X Association

At the beginning of the conference in Bogota, no national parent support organization existed for Fragile X in Colombia. Sergio Villada and I were determined that one would by the time the conference ended! And what better opportunity could exist than having many families already present at the conference? So with little time to spare we pulled together an impromptu evening gathering of interested parents and professionals. Gathered in a circle, with the usual back and forth interpreting, I laid out the necessary steps for the approximately 25 in attendance. The response was immediate with both parents and professionals volunteering to take on the tasks required to start a new organization (primarily legal and informational) and to serve as its officers.

(As of this writing, the group has already held its first meetings, has received certification from the Colombian government, is putting the final touches on a website and is finalizing its mission statement. So it seems the “pieces” were already present and simply required assembly!)

Universidad del Valle – Cali

Picture any American University with students strolling about and music blaring, then throw in a few revolutionary murals (Che Guevara, Fidel Castro and the like) and you will understand the setting in which the clinic exists. A breakfast meeting with the directors, professors, and some students was productive, as it gave us the opportunity to describe the goals of our visit and to receive helpful information and feedback regarding genetic awareness and services in Colombia. Then began a mix of lectures to medical students and staff, interspersed with meetings with individual parents or families, almost always accompanied by their young child or adult child with some type of neurodevelopmental disability. (In many cases, we suspected, fragile X syndrome.) 

Breakfast with Genetics staff and students at the university in Cali

Breakfast with Genetics staff and students at the university in Cali

Once again, many parents, many problems, little to no money and, even if there had been money, few available resources. But enthusiasm and idealism were in ample supply amongst the staff and students, particularly the young medical students.

Of particular interest on campus was Edwardo, an older man with fragile X syndrome who was employed by the university in the care of the lab mice. Though I was never able to convince Edwardo of my inability to speak Spanish, we established a ready rapport consisting of smiles and handshakes as we encountered each other throughout the day. Edwardo seemed to be a content gentleman (confirmed by his sister) who was proud of his work, and I was proud to have made his acquaintance.

Edwardo with his aunt and the author

Edwardo with his aunt and the author

The afternoon concluded, for me, with a tug on the arm and a request to give an impromptu, hour-long lecture to a room of 50, already seated, medical students. In turn, I tugged on the arm of my colleague Sergio Aguilar-Gaxiola and asked him to interpret. Sergio readily agreed and, using our best comedy duo skills, we dove head first into the lecture hall filled with the very young students who, of course, were clutching their smartphones as a guard against a potential hour of boredom. Fortunately, and not all that surprisingly, the material appeared to hold their attention and Sergio and I departed with the hope that we had planted the seeds that would lead to a generation of doctors who cared about those with a genetic disability.

Meeting a “Saint”

That evening, a few of us were asked to travel to a private home in Cali to meet a foster mother who had been unable to make it to the clinic with her children. I don't know what the others expected, but I was full of uneasy anticipation as we drove the crowded Cali streets, in a tiny yellow taxi, looking for a modest home in a second-story walk-up in a cramped section of town.

A loud and uncontrollable dog greeted us and we were ushered into, save for a lit Christmas tree and some plastic deck chairs around a plastic table, a somewhat barren room. Two children with blank stares sat quietly against the wall. Slowly, and with much Spanish-to-English and English-to-Spanish interpretation, we began to get to know this saintly woman and her severely challenged foster children, one age 14 and the other age 30. Both had been with her for many years and she considered them to be part of her family. The 30-year-old, with nonspecific brain damage, never looked up nor made a sound during our entire visit. Our initial impression of the 14-year-old, who was diagnosed with autism, was similar until halfway into the meeting when she suddenly looked up, smiled and began chattering away about her wish to have a boyfriend and go to the movies. At this point, the foster mother initiated a frank conversation about appropriate sexual development and behavior and it was agreed that I would email her links to specialized curricula and training materials.

Trust continued to develop and, after more than an hour, the saintly foster mother suddenly asked if we would like to meet her third foster child. We of course agreed (not knowing until that moment that there even was a third child) and were escorted down a long, narrow hallway to a clean, though somewhat sterile room where on a bed lay a 21-year-old girl with severe cerebral palsy. Looking more like a 5-year old, and wearing a diaper, the young woman was clearly aware of our presence. She, too, had been with her foster mother for many years. But now, the young woman was becoming too heavy and difficult for the foster mother to easily move and she worried that she might have to place her in an institution where, she feared, she might not survive. Sadly, no apparent options were available – a not uncommon situation we would continue to encounter in the days to come.

‘The saint’ second from left in rear

Ricaurte

Ricaurte, Colombia, a town of 2400 in an area administered by the nearby town of Bolivar, was the next focus of our journey. A two-hour, night-time bus ride took us to Bolivar where a delightful dinner in an open air restaurant awaited us. Once again, a scholarly discussion ensued in which our research goals were contrasted with the need to first build trust. We all agreed that hearing from community leaders and families would be our approach and that the gathering of meaningful data would only happen once trust was developed. With that understanding and consensus in mind, the showing of genuine respect and the building of meaningful relationships were to be the guiding principles of our work in Ricaurte and Bolivar over the following three days.

Ricaurte

Ricaurte

After a good night’s sleep on our cots in the town square hotel, and invigorating cold showers, we gathered, once again, over breakfast to discuss and plan the day’s agenda. (Locals got quite a chuckle out of our breakfast chatter about the lack of hot water, wondering what the point of a hot shower would be in such a constantly warm climate. Later, as we walked the hot, dusty, dirt streets of the town, or met with community leaders in a stifling cinder-block building with an aluminum roof, sweat running down our faces, most of us would have given one of our limbs for a refreshing cold shower!)

Sadly, Ricaurte is well known in that part of Colombia as the town of “stupid” or “dumb” people. (We were soon to learn that the townspeople were anything but…) As we boarded the bus for the 10-minute trip from Bolivar to Ricaurte we had no idea what awaited us upon our arrival. We had just met with the chief administrator of Bolivar's hospital and learned of their concerns and occasional frustrations with the Ricaurte community, as well as their willingness towards working with us. (Though that willingness was couched in a reminder that others had been there before and promised to return—without doing so.) Halfway through the brief trip (with a police escort) an impromptu decision was made to pull over and call out to the Embera Chami indigenous population living in some huts alongside the road. "There are rare white-skinned people to meet you!" called out one of our party who was a member of that group. Immediately, a half-dozen or more children and adults came running onto the bus! Their warmth and friendliness, as well as their curiosity, were lovely and infectious and all of us counted that brief encounter as one of the highlights of our trip!

With the Embera Chami

With the Embera Chami

Our days in Ricaurte consisted of breaking into small groups of 4-5 and visiting individual homes. At each home we tried to ascertain what the child or adult's diagnosis was, whether or not they had ever been tested, what services, if any, they were receiving, and what their needs and priorities were. Almost without exception, we were welcomed with warmth and smiles. (I was continually struck by how easily the Colombian people “give up” the smile!) As we walked from home to home we frequently encountered many older men who clearly had an intellectual disability which, based on physical characteristics and style of communication, almost certainly was the result of having fragile X syndrome.

A home visit

A home visit

Interestingly, but not surprisingly, wherever we went in Ricaurte we were asked for medical advice on conditions having nothing to do with disabilities. After all, weren’t we all medical professionals (or so it was assumed) with special knowledge that could cure, or at least help with, a variety of ailments? It was a good reminder that our priorities, in many instances, were not necessarily the priorities of the community.

Dirty, dusty and tired, we ended the day at the open-air restaurant with good food and, more importantly, a serious debriefing of the day's events. Knowing that the following morning we'd be meeting with Ricaurte community leaders, and the following day with the Bolivar officials again, it was essential that we be clear within our own group about what our intentions were so that we could honestly and sincerely communicate them to our Colombians friends. By now, we were all becoming so emotionally moved and, by extension, connected to the community, that our discussion about long-term commitment was more about “when” than “if.” i.e. Exactly how would we be following up and how quickly could we do so?

Planning for the day

Planning for the day

Final Meetings/Final Thoughts

Regarding our two days in Ricaurte, we ended where we began; in Bolivar in a meeting with the mayor, the head of the hospital and other area officials. However, this time, just two days after our initial visit, there was a distinctly different atmosphere. Not that our initial meeting had been chilly—on the contrary, like everywhere we went in Colombia, we had been warmly welcomed. But now, with the reality of Ricaurte’s needs in our hearts, our meeting was heartfelt and our expressions of future collaboration were made, and hopefully received, with the sincerity that can only come from a feeling of emotional attachment—something all of us felt after this life-altering experience.

Colombian & US  medical staff and students outside of Ricaurte- joined by local citizens, restaurant staff and police escort in Bolivar

So goodbye Colombia (at least for now) and thank you for opening yourself to us. What you taught us will help many others around the world. We owe you a debt of gratitude.