Jennifer Coughlin, NR2F1 Foundation President had the chance to catchup with Carmen, Peggy's mom. We hope you enjoy learning more about Peggy as we wish her a very happy birthday.
1) What’s one of your favorite memories with Peggy from this past year?
A special moment last year was when Peggy helped her friend Charles eat his sandwich at " Al Younbouh" Center, where she goes every day. Charles has Parkinson's disease and his condition has worsened this year so he could not use his hands freely. She acted so naturally and stepped in to help which inspired the supervisor to take a picture of them and share it with me. It made me very proud to watch her big heart in action.
2) How does Peggy like to celebrate her birthday? Any special traditions?
Peggy likes to celebrate her birthday with her friends at "Al Younbouh" and also, with her cousins and their families. This means she never gets just one cake but typically at least two. Above everything else, Peggy’s greatest pleasure on any occasion is having a Diet Pepsi. This is her favourite drink and the one thing that gives her tremendous joy.
3) What brings Peggy the most joy right now—hobbies, music, routines, or people she loves?
Peggy used to love listening to music and dancing to it. But over the years, her taste has changed where focusing on certain routines and doing the same activity repeatedly have taken over. Her favourite routine and activity right now is playing with beads or puzzles for many hours non-stop.
Beyond activities, Peggy loves her family and loves having them visit. She is very attached to us and her extended family, and she keeps asking me to invite them for Sunday lunch every week, whether it is her cousins or other relatives, being with family is her greatest joy.
4) If Peggy could choose the perfect birthday activity, what would it be?
Peggy loves going to restaurants, hence her greatest joy on her birthday is going out to a restaurant, enjoying a meal, and especially drinking Pepsi—she get extra on her birthday and that gives her more joy
5) What did receiving the BBSOAS diagnosis in 2014 mean for your family at the time?
Realizing that Peggy’s condition was due to a mutation in NR2F1 and not due to any external factor that we could have prevented was a relief. Like all parents we always wondered what caused her condition. Knowing a precise cause and knowing that this gene has been shown to be critical for eye and brain development helped us understand her condition better and bring closure.
We never imagined that Peggy will be the first one diagnosed with this condition, but once we knew there were others like her it warmed our heart to meet the greater BBSOAS community.
6) Looking back over 10+ years, what has surprised you the most about Peggy’s growth and strength?
Peggy has always impressed with being strong, knowing what she wants, and expressing her needs. A few years ago, however, Peggy surprised me with her determination and inner strength. When she went through menopause she started gaining weight. After hearing a few remarks about her weight from people around her, and because she cares about her appearance, she decided to walk more and eat fewer sweets to keep her nice figure. And that she did. She also handled the hot flashes and sweating very well, without complaining or feeling embarrassed. I truly didn't expect such beautiful determination from her.
7) What advice would you give to families who are newly diagnosed today?
The journey dealing with neurological developmental disorder is long, and progress comes very slowly. Thankfully, being 47 years with Peggy has taught us a lot and showed us reasons to always be hopeful. First thing we learned is that patience and repetition paid off and helped Peggy be the best version of herself. Peggy now speaks, reads, and writes in two languages, Arabic and French, which are so different from one another.
At home, she's independent and manages very well, but because of her vision she is less comfortable outside the house. She needs to be accompanied, especially when there are stairs, it is dark, or she is in a new place—she will freeze waiting for guidance.
For parents with newly diagnosed children, I say, the future is bright, and I hope the research will yield new approaches and technologies to support your children. But in the meantime, keep teaching them skills and repeat the teachings till they master them.
8) How has the BBSOAS community supported your journey—and what does community mean to you?
When our journey with Peggy started, there was no community, we were all alone except for the support and love of our families. In 1980, when she was two and it was clear she had vision and developmental problems, I found myself raising Peggy during a most difficult time, because we were living through the civil war in Lebanon. Life was hard, we didn't know the cause of her problem, what was happening to her, if her disease will progress, and how to manage her. Even though Peggy’s father is a Paediatrician, we felt confused, had no control over her disorder, and scared of the unknown. We were lost but we always had a stubborn determination to help her succeed somehow.
In 2014, we received the genetic diagnosis and got some relief that we now have a cause for her syndrome.
But the big turning point was in 2018, when I travelled with Georges-my husband- and Peggy at Dr. Schaaf’s request to Houston for the first BBSOAS International Conference. I was very deeply moved to learn that our daughter was the first person to have the genetic diagnosis that defined this syndrome. Meeting so many young parents with their young beautiful children made me remember my early days and feel with them regarding the unknown. I was thankful that I could assure them the future is better than they think, and meeting Peggy helped them see that firsthand.
But, importantly, the BBSOAS community means a lot to me, as they showed me for the first time that Georges and I are not alone, and we now have a supportive community cheering us on. During the meeting, watching joy shining on various faces as I shared our story was incredibly uplifting. Now we are all together in this. Despite all the health challenges that face our children, being together and part of a community that hopes, shares concerns, experiences, and solutions empower us all. This is the true strength of the BBSOAS community. I'm so proud that we have a BBSOAS community and that I am part of it because beyond the support it offers to families, its members are working hard to create a brighter future for all people with BBSOAS.
9) What progress or changes in research and awareness have felt the most meaningful to your family?
Discovering the gene is the first meaningful progress and is foundational for any advances. Having animal models of the syndrome and dissecting how loss of this gene affects eye development, and the brain have been great advances. Moving forward, we hope that there will be investments in research exploring new technologies and charting the path for potential therapies to help people with BBSOAS.
10) What does it mean to your family that Peggy was the first person ever diagnosed with BBSOAS?
I would simply say that as painful as it was to live with an unknown diagnosis for decades, this all paid off when Peggy received BBSOAS diagnosis. Being the first one to have this diagnosis, feeling the love and support of our greater BBSOAS family, and receiving the most precious and perpetual birthday gift—having Peggy’s birthday designated as BBSOAS day, erased all the pain and brought enormous joy.
11) If you could share one message with the global BBSOAS community on Awareness Day, what would it be?
Keep on training and teaching your children new skills. They will surprise you.
12) How would you describe Peggy’s personality to someone who has never met her?
For someone who had never met Peggy, I would say Peggy is a very kind and polite woman. Her polite and kind behaviour is very noticeable and tangible. She follows and participates in conversations with interest and has an incredible memory. Although she can be a bit firm expressing her opinions, she is a gentle and very pleasant person to be around.
13) What do you hope for the future—for Peggy, and for all individuals with BBSOAS?
Our dream for Peggy, and for every person living with BBSOAS, is that they grow older with dignity, surrounded by people who respect them, and that they are enabled to enjoy life maximally.
For Georges and I, we hope that our dream will become a reality, because at the Center where Peggy spends her days, there are plans to convert two floors to residences for the current and new Center attendees. We dream of this day because it will provide a home for people who grow together but one day will face the loss of parents or other caretakers. We are working hard to find a donor to help us complete this construction and make the dream a reality. I dream for a beautiful home for every person with BBSOAS so they can live life happily and safely when they grow old.
A huge Happy Birthday to Peggy from all the BBSOAS Families around the world. If you would like to send a birthday wish to Peggy, feel free to email Jennifer.Coughlin@nr2f1.org and we will pass these along.
You can also show your support by donating to our Giving Tuesday appeal to help us reach our target https://givebutter.com/fly2function