- Fragile X-associated Disorders
- Treatment & Intervention
- Support the NFXF
My first Fragile X case was in graduate school in 1984. A young man, about to be married, had a brother with fragile X syndrome, and he wanted genetic counseling prior to his wedding. The first rumblings of “transmitting males” were arising so we imparted on him a small risk to be some sort of carrier, with no symptoms, and to be at risk for grandchildren with FXS. Even then, that was pretty advanced stuff, straying from the usual X-linked inheritance that previously reassured unaffected males that they could not pass on the disorder.
My last Fragile X case was today, counseling a newly diagnosed 50-year-old man with FXTAS, whose neurologist ordered the testing even though the man had no family history of Fragile X. To me, this is a miracle. We are finally seeing professionals who previously knew nothing about Fragile X now paying attention, ordering tests and making referrals!
These two cases were about 28 years apart. They span the beginning, and now the autumn (or at least Indian summer) of my career in genetic counseling.
But I may be getting ahead of myself in a column with “Farewell” in the headline. How did I get here?
Shortly after graduation from the UC Berkeley Program in genetic counseling in 1985, I received a brochure from the NFXF. I was starting off in prenatal genetic counseling (amniocentesis, etc.), so the brochure was filed and forgotten. After a year in that job, I moved to a job in the Dept. of Developmental Disabilities in one of the state regional centers, evaluating clients for genetic conditions. I remember seeing a delayed 2-year-old boy and noticing his older brother out back, raking leaves, and looking much like the photos of FXS I had seen in graduate school. “This is Fragile X,” I thought to myself, without drawing a drop of blood. “I just know it.”
After diagnosing a few more families, I heard about a Fragile X conference to be held at the Stapleton airport in Denver and somehow coerced my employer to pay my way. That was the first NFXF conference. Twenty-seven years later, I just returned from the 13th!
It was at that first conference where I met Randi Hagerman and my life was changed. Her enthusiasm and intelligence made me want to jump into the same pool and drink its waters. I soon became obsessed with identifying FXS in our clients at the regional center, and I eventually carried that interest over to my work at Children’s Hospital, Oakland, CA, where I stayed for 15 years. It was there that my bond to families with Fragile X began. I called a few newly diagnosed families and asked, “If I start a support group, will you come?” I remember clearly the mother who came, stood up and said, “My name is _____ and my son has Fragile X and this is the first time I have said those words.” She cried with the relief at being among others who had heard (and said) the same words, lived similar lives and felt the same fears, losses and challenges. I knew then my work was just beginning, and I had found my niche. Within a few years, I started a Fragile X clinic at Children’s, Randi came out a few times to help spearhead the effort and educate the staff, and I became a regular at what turned into the semi-annual International Fragile X Conference.
What I valued most was the time spent with families. Sitting in clinic, hearing their stories, listening to how they told their families, friends, their other children. Acknowledging their losses and sadness and then shepherding them to join other families, find help, cope with and adapt to the realities of their lives.
But then something else interesting happened: I began to hear about boys with fragile X syndrome playing Little League, joining Boy Scouts, going scuba diving. I began to see closed doors opening. And how were these doors being opened? With huge assists from the National Fragile X Foundation.
The five conferences between 1987-1995 saw many advances in diagnostics; the Sherman paradox was explained by the discovery of the FMR1 gene and the different mutation stages. The availability of laboratory technologies to diagnose pre- and full mutations allowed for diagnosis of all individuals with FMR1 mutations. Along with this technology, many families who had questions about the inheritance patterns in their family got answers, got connected and became involved.
It was immensely satisfying to me to understand and be able to explain these new genetic discoveries to families. The conferences grew from a few hundred attendees to close to a thousand. Researchers from all over the world came, and families planned for the pilgrimage to Denver, Aspen, Ashland, Chicago, Albuquerque, Portland, Washington, DC, Los Angeles, Atlanta, St. Louis, Detroit and finally Miami.
The following decade (1996-2005) brought the newly identified conditions of FXTAS and FXPOI, and our vocabulary grew to include terms like dendrites, synapses, white matter changes, POE At the conference in Los Angeles, I couldn’t hold back the tears as I witnessed Hilary Clinton proclaim July 22 National Fragile X Awareness Day. We were on the board!
At the conference in
Los Angeles, I couldn’t
hold back the tears as
I witnessed Hilary
Clinton proclaim July 22
National Fragile X
We were on the board!The NFXF had made it to Congress, and celebrities and public personalities wanted to be a part of it. I could now share with families the latest in our understanding of these new Fragile X-associated Disorders, and I knew that the NFXF would give them a lifeline to help, connection, community, expertise-and hope.
The more recent conferences (2005-2012) have brought that hope to a whole new level. With clinical trials of promising new medical treatments, the evolution of the Fragile X Clinical & Research Consortium and parent LINKS Groups and increased funding for scientists working on all aspects of Fragile X from newborn screening to nerve pathways, everyone is excited, hopeful and completely connected. Gone are the days of “There is nothing we can do,” and welcome the days of, “We have another family right in your town,” “We have a clinic in your state,” and “I can send you a brochure on what your dad might have.” As a I genetic counselor, I can say that the availability of better reproductive options, quicker and less expensive testing, and the possibility of newborn and general population screening all make this a very exciting time.
For the last eight years, after having retired from Children’s Hospital in Oakland, I have had the honor and privilege to serve Fragile X families as the genetic specialist at the National Fragile X Foundation.
When I walk into the office, there is often a note on my desk. “Please call this mother; her son was just diagnosed and she is scared and confused.”
“Please call this pregnant woman; she doesn’t understand her carrier testing.”
My goal is to help these callers sort out what they have heard, what they believe, and to help them let go of any unfounded fears. I strive to supply answers, recommendations, referrals, hope and most of all, an ear. That’s what seems to help the most: just listening. I listen not just with my ears but with my memory, too, of all the times in the past I have heard other callers share how scary this all is, how worried their families are, how lonely it feels to hear the words “syndrome,” “autism,” “carrier,” “disability,” “infertility,” “special education,” “highrisk,” “ataxia.” The list goes on.
By the end of these calls, the tears shed, the voice softer, less scared, the shoulders dropped, breathing slowed, a smile heard over the line, a decision made, the caller is ready to move on, go the next step, feeling accompanied and heard. I feel like I know them, like we’ve met, we’ve shared a poignant and deep moment in time, when they have been vulnerable and it was safe to be just that way. When I have given them a place to come to, and by the end, said good-bye to a different person.
And though I do many other things here, it is these moments on the phone that have brought bring me in each day to work. The other draw has been the amazing environment that Robby Miller has created, and all the ways that the team has continued to be incredibly dedicated and passionate about helping families with Fragile X. From our funding of research to the production of the quarterly journal, from planning and production of fantastic conferences that bring together families and professionals from all over the world, to the incredible network of LINKS groups and the FXCRC (now with over 25 clinics!), this is an outstanding and groundbreaking organization.
There would be no FXCRC (therefore no place to organize and conduct the clinical trials), there would be no conference (therefore no venue to meet all these incredible scientists), there would be no LINKS groups (therefore no way to meet your new best friend), there would be no website, brochures, newsletters, champions on Capitol Hill securing funding for Fragile X clinics and projects, and most of all no one to hear your voice on the other end of the phone during your darkest moments, were it not for the National Fragile X Foundation.
Now, I am leaving the NFXF to pursue other interests, among them providing genetic counseling to families at risk for inherited cancer syndromes. I suppose, and hope, that I will find some of the same satisfactions, warmth, inspiration and collegiality in my new field of work. But I know it would take a lifetime to find the plethora of incredibly dedicated professionals that I have found in the Fragile X field, and most importantly,
I doubt I will feel the love and commitment to the Fragile X families I have come to know over the years here. I will miss you all and will be watching from afar. I know you will all break new ground, whether it is in the laboratory, the clinic, the classroom, the park, at your neighborhood community center or school,
or in your own backyard. You and all your children all make a difference. Thank you for being part of my life for 27 years.
The NFXF finds words insufficient to properly thank Liane Abrams for her many contributions to our organization over the years. We wish her every happiness and look forward to writing her at: firstname.lastname@example.org