Earning our Wings,by Sally Nantais, FXAM Quarterly Newsletter, April 2008
During March, Austin and I completed our fifth and final visit for our four-year study, to the Waisman Center in Madison, Wisconsin, for the FXS Language and Communication Study.
He did absolutely awesome!
Ten years ago, I would have never dreamed that Austin would be such an accomplished traveler.
How did we get here? The key to our success was first in understanding Austin, looking at the journey from Austin’s perspective, understanding his anxiety and fears and taking measures to ensure they were minimized.
Five years ago, before our first trip, we began with a family field trip to Detroit Metro Airport in which I was able to expose him to many aspects of air travel. It was an opportunity to take away many of the unknowns. It was an experience that not only benefited Austin but his sisters, Natalie and Genevieve, as well. (That experience was documented in one of my monthly columns for a local newspaper, Wings Earned by flying with little children.)
Every trip was carefully planned taking into consideration what I could do to make the trip successful. We always travel non-stop, reducing transitions and wait times, and the potential for unexpected delays. At first, we only traveled during Austin’s best time of the day, the earlier the better. As time passed, we became more adventurous for our return trips home, traveling late in the evening.
We had our unexpected adventures, spending two hours on Detroit’s runway on one trip waiting to be deiced (that was the last time we scheduled a trip in February.) Once we even made a mad dash to the airport in Madison to try to get home earlier by going standby on an afternoon flight. As luck would have it that would be the one trip we were randomly selected for intensive security screening but we managed very well with no meltdowns due to strange people unpacking his treasures in his backpack.
With every trip, Austin’s Teddy has accompanied us. Austin doesn’t sleep with Teddy anymore but he always digs him out of his toy box and brings him along for our journeys. Teddy is part of our routine and routines are very important to Austin.
Austin has navigated shuttle buses, taxis, escalators, moving walkways, elevators and express trains like a pro. We always pre-board the plane, eliminating waits and being crowded by others. His only issues have been with the connecting walkways from the terminal to the plane. This phobia (or whatever it is) occurred after our Disney World trip in 2005. It’s classic OCD behavior, reminding me of Jack Nicholson’s character in “As Good As It Gets”. When Austin approaches a seam in the walkway, each seam, I had to coax him across, reminding him, “It's okay, the floor won't move.” During our last trip home, he got to the final platform where he would enter the plane and he froze. I had already entered the plane, I waited for him, telling him “It's okay, follow mom.” You could see the fear on his face. Then something unexpected happened, the flight attendant (who happened to be male) went around me, went to Austin and said "c'mon buddy, it's okay, we can do this" and he did.
Austin has earned more than just his wings on our adventures; he’s entered my world and mastered it better than a few adults I know. He’s not the only one who has earned his wings. Numerous people along the way, like the flight attendant who helped him board the plane or the staff at the Waisman Center who always make sure our needs are met; they have earned their wings, on a very different level.
2017 Update - The Nantais family is still very involved in research. It's our way of not sitting back on our heels and waiting for something to happen, It's our way to be a part of the change we hope to see in the understanding and treatment of fragile X disorders. I encourage others to participate. This page will list a few general links to research, in addition it will be used to assist researchers if they are struggling to find participants for any given study.
Research Resources
ClinicalTrials.gov - search by condition, i.e., fragile X Syndrome, Angelman Syndrome, Rett Syndrome, etc.
The Fragile X Research Registry - is a database of people who want to be notified about fragile X research studies. It is a confidential, convenient way for families to connect with studies and move research forward—there is no cost or obligation.
FORWARD MARCH - is the next step following a highly successful research study called FORWARD (Fragile X Online Registry With Accessible Research Database) that was started in 2012.
The FORWARD study created the largest database of information on FXS in the United States. Data from the FORWARD study is being used by researchers to learn about the lives of people with FXS. Thanks to families who contribute to FORWARD, researchers are learning about important things like medication use, behaviors, and development over time. These findings are shared with other researchers and clinicians in order to help develop targeted therapies and treatments.
International Fragile X Premutation Registry - The International Fragile X Premutation Registry was created to facilitate and encourage Fragile X premutation research, including future medication and non-medication treatment and intervention studies that could positively impact your quality of life. Fragile X premutation-associated conditions include Fragile X-associated tremor/ataxia syndrome (FXTAS) and Fragile X-associated primary ovarian insufficiency (FXPOI).
Our Fragile X World- Registry is open, signup to learn about studies! Our Fragile X World is a research community dedicated to gathering practical information about the experiences of individuals with fragile X syndrome and their families. We conduct studies and share findings in order to advance science, improve professional practice, and impact policy.
SPARK - Today we simply don’t know enough about autism. SPARK—a landmark autism research project—aims to make important progress possible. SPARK stands for ‘Simons Foundation Powering Autism Research for Knowledge,’ and the mission is simple: we want to speed up research and advance our understanding of autism to help improve lives. If you or your child has a professional diagnosis of autism spectrum disorder, learn more about SPARK here.
As autism is a spectrum, researchers need many people with autism to participate in all types of research. Until now, only a small number of individuals and families affected by autism have ever participated in research. SPARK wants to invite the entire autism community to dramatically expand its participation.
SPARK will provide researchers with medical and genetic information from tens of thousands of individuals and families affected by autism. These data will power important new research that aims to advance the understanding of autism and provide meaningful information and resources to participants.
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Research Studies Actively Recruiting Participants
Rush University
To view active studies, please visit
rush.edu/clinical-trials?area=586
Cincinnati Children's Hospital
cincinnatichildrens.org/research/divisions/p/psychiatry/labs/erickson-wink/fxs
Northwestern University
Living with Fragile X
Participate in the Northwestern Neurodevelopmental Disabilities Lab Autism and Fragile X Studies
University of South Carolina
Study # 1, Virtual or In Person, Women ages 35-75, With the Fragile X premutation.
Study #2, Fragile X premutation women who have a child with Fragile X syndrome (FXS), ages 45-78
Learn more at:
scfamilystudy.com/now-recruiting-carriers-of-the-fragile-x-premutation/
Infant Development Study
Currently recruiting infants that:
Have fragile X syndrome (12 months or younger)
Have fragile X premutation (12 months or younger)
Are experiencing neurotypical development (6 months or younger)
UMass Amherst
Child Language Study
Seeking
Boys with FXS, ages 9-17, speaking in two to three-word phrases
Boys with Down Syndrome, ages 9-17, speaking in two to three-word phrases
Purdue University
Progect Wellcast
For caregivers of children with rare disorders
Caregiver age 18+, with children between the ages of 2-35