10 Minutes with: Jennifer Leonard
As November is FOXG1 Awareness Month, we thought it would be a great time to introduce Jennifer Leonard, the Director of Family Advocacy for the International FOXG1 Foundation.
Below, she tells us a bit about what her roll involves, give some solid advice for families finding out about a FOXG1 diagnosis and shares a little bit about what life is like with her family, including her daughter Abigail who was born with FOXG1.
MTEAM: Tell us a bit about yourself and your family.
JENNIFER LEONARD: My name is Jennifer Leonard. I'm from Pennsylvania, transplanted to Massachusetts. I'm married to Jed and we have two children, Abigail, (age 11) and Corinne, (age 9). I enjoy reading when I have time, travelling (although there's not a lot of time for that right now!). My guilty pleasure is watching General Hospital.
MTEAM: You hold an important position as the Director of Family Advocacy for the International FOXG1 Foundation. For those who have never heard of FOXG1, can you help us understand a bit about what it is and how it manifests itself?
JL: FOXG1 Syndrome is a rare neuro-developmental disorder caused by mutation on the 14th chromosome. It impacts brain development and function and can be a cause of seizures.
Most cases of FOXG1 are considered de novo, meaning they just occurred during the early development in utero. In some cases, a parent can be a carrier, but most cases are non inherited and have no family history.
FOXG1 can cause lack of speech, inability to control body movements, vision issues. Many of the people diagnosed with FOXG1 Syndrome cannot walk, talk, and cannot take care of their daily needs on their own.
MTEAM: November is FOXG1 Awareness Month. Can you tell us more about what the International FOXG1 Foundation does, perhaps what is in focus at the moment and some of its achievements?
JL: The International FOXG1 Foundation's (IFF) mission is to provide hope and support to the families of individuals with FOXG1, to fund research and to bring awareness and education to the public. IFF helps our families understand all the information that gets thrown at them with a FOXG1 diagnosis, from the symptoms that can come with a diagnosis and any new medical information that is available.
One of the things that the IFF has been able to do has been to fund the creation of what is called a knockout mouse - basically a mouse that can be bred to have FOXG1 so researchers can understand how FOXG1 affects the mouse and then can understand the characteristics of the disorder. It can help with treatments for the symptoms of FOXG1.
IFF recently entered into contract with the Harvard Brain Tissue Research Center (HBTRC) and is working with Boston Children's Hospital on research projects. IFF is involved with a Consortium where clinicians are collecting information for a National Institute of Health funded natural history study of the related disorders.
A long term goal is to open a clinic where clinicians will be able to see patients with FOXG1 in a sort of "one stop" visit. Meaning the patient will see all their specialists in one day of visits instead of making multiple appointments on different days.
MTEAM: What is a typical day at the International FOXG1 Foundation like for you?
JL: One of my main roles as Director of Family Advocacy is to work with families to make sure they have what they need. I like to try and connect families with other families in their geographic location. I also try to help when a family needs to find a medical professional that can treat their child. I'm the liaison for IFF with the Natural History Consortium which allows me the ability to get to know others from different foundations and the clinicians and researchers involved in consortium work. I'm lucky to live in an area where there are so many doctors and researchers interested in our kids.
MTEAM: How has FOXG1 touched your own life?
JL: When you're pregnant with a child, you dream of all the things they'll do, how they'll grow up and the way they'll be. Having a diagnosis of FOXG1 changes all of that in a heartbeat. At the time of Abigail's diagnosis, there was very little information for parents. Dr. Google wasn't much help; if anything, it makes it worse. Finding the parent group and the International FOXG1 Foundation opened our world up to other people who "get" our life and help celebrate the all the little milestones that others take for granted.
NOTE: Click through to a more in depth version of Jennifer and Abigail’s birth story and diagnosis.
MTEAM: Tell us a bit more about Abigail and her personality!
JL: Abigail is 11-years-old and has a very big personality. She loves her sister, her cats, playing with her friends. She also loves a good joke and listening to music. She can be naughty when she wants to (she loves to pull items off tables or get a little fresh if someone is standing too close to her reach!). Telling her to stop, or no, gets a big grin of defiance. In general, Abigail's a pretty happy kid, but she's getting into the "tween" years and it's fun (and annoying!) to see the typical tween attitude come out. Her unique ability to connect with others with a smile is pretty fun to watch. Even the grumpy person can't resist an Abigail smile and giggle. If Abigail likes someone, she'll do her best to get that person's attention and will intentionally listen to them. If she doesn't like you, you'll see the shoulder shrugs, head down and no smiles. She can be pretty convincing when she wants, especially if she wants something!
MTEAM: What have been some of your biggest challenges and the best rewards along your journey with FOXG1 so far?
JL: There are always ups and downs with any person who has such complex medical issues. The past 12 months have been very challenging. Abigail went from being a kid that ate and drank pretty much everything we gave her to a child that needed a feeding tube placed, a swallow study that showed she was aspirating thin fluids, food aversions and gagging, new and uncontrolled seizures, and a GI issue the doctors thought might need surgery. She had four inpatient stays in a 365 day time frame, which for her, is the most she's ever had within a one year. Trying to juggle her care and the needs of her younger sister, plus everyday life has been very stressful. Seeing the progress she's made, even if it's just a little, since she started feeding therapy is probably the most rewarding. There was a mini celebration when we found out she was finally on the weight growth chart for her age!
MTEAM: What advice would you offer to other parents who are just finding out about a similar diagnosis?
JL: I always tell new parents to take a deep breath. It's a lot to take in and make sense of. I tell them to cry, rage, do whatever they need to do, then pick themselves up and stand tall. The journey is a marathon, not a sprint. The lows are bad, but the highs are awesome. Find the team that works for their child, whether it be family, friends, medical people, other special needs parents, etc. Those are the people that will help in the long run. Their child is still the same child they were before the FOXG1 diagnosis, nothing about them changes, it just adds a label to the why. I tell them to seek out the other parents; they're in the same boat and usually know how to get around things and find the services and medical things that may be needed. All our parents in the FOXG1 community are knowledgeable about their child and what works for them. That something may work for another person too. Don't hesitate to ask questions, challenge doctors if you need to, and most importantly, follow that Mom gut, intuition. If something seems off, it usually means something is going on.
MTEAM: What are some of the key changes that would make the world a more inclusive place for children born with FOXG1?
JL: Listen to the parents, the people that know the kids/adults with FOXG1. Invite us to the parties, picnics, play dates, even if it seems our kids can't do what you want to do, that doesn't mean they don't enjoy the company and the siblings of kids with FOXG1 definitely enjoy it. Our world got a lot smaller when the diagnosis came; reach out to us. We may not always seem like we appreciate it, but we do. Physical disability doesn't define a person.
MTEAM: If there was one thing you’d most like the world to know or understand about Abigail or about FOXG1 generally, what would it be?
JL: Abigail is so smart, as are her friends with FOXG1. These kids are locked in a body that doesn't want to work the way they want it to work. Treat her like a typical 11 year old, ask her questions and wait a few seconds for her to respond. You won't be sorry when you get that big smile or a definite head nod yes or no. It's so worth it if you take the time.