ONCE UPON A GENE - EPISODE 036 - Anna Laurent on Alagille Syndrome and Her Road to Advocacy
My guest today has a rare genetic disorder called Alagille Syndrome, which she was diagnosed with at 6 months old with no prognosis. Anna Laurent is a vivacious 25 year old living her best life. She's the Head of Programs & Initiatives at Our Odyssey where she helps to empower young adults impacted by chronic and rare diseases. If you know a young person with a chronic or rare disease, tell them to check out Our Odyssey.
EPISODE HIGHLIGHTS
Can you share some of the excitement you've had in your life over the last 6 months?
I am the first employee of a non-profit called Our Odyssey, which is something I'm incredibly passionate about and have been volunteering since last summer. They focus on supporting young adults between 18 and 35, impacted by rare and chronic illness to improve their quality of life and bringing in connection and community that's missing. It's exciting to officially be part of the team. I'm 25 and I wish something like Our Odyssey existed when I was in college because it would have made a huge impact on my journey through college and navigating young adulthood.
Tell us your story and about the diagnosis you were given as a child.
I have Alagille Syndrome (ALGS) which affects roughly 1 in 35,000 to 70,000. It can affect all the major organ systems with a wide variety of severity. There are some kids who have multiple organ transplants at a young age just to survive. Some don't find out they have the disease until they have a child who has a more severe case and through genetic testing. I was born preemie and jaundice, wasn't gaining weight, failed to thrive and things weren't quite right. That was when the search for a diagnosis began for my parents. It took about 6 months to get a diagnosis after seeking help from 4 hospitals in 3 states. At that point, they had only identified one gene that causes Alagille Syndrome, I was tested for it and didn't have it. For many of us, there is a variation in our vertebrae where they're butterfly shaped. I was diagnosed through characteristics of the condition like the butterfly vertebrae and a liver biopsy.
What was it like growing up with a rare disease?
In the grand scheme of Alagille Syndrome, my journey physically has been very mild. I'm most impacted by chronic itch, which feels like being covered head-to-toe in mosquito bites all the time. Other than keeping on weight, that was the biggest impact. I was also very small for my age, which my parents raised me to not view as a difference, but I was bullied by my classmates that pointed out my differences and called me names. My parent's empowered me to speak up and say what I needed to get past those instances. Middle school was the darkest part of my journey because mental health became a factor. It was then that it hit me that my life was really impacted by my rare disease. I realized I was never given a prognosis and I started paying attention at doctor's appointments and became sad and depressed. All of my friends talked about going to college and getting married like teenage girls do and I didn't know if I could do that. My depression started from the grief of what was taken away from me- a "normal" life just like every teenager wants. Then I found out my gene was dominant, which took away my dream of having a big, loud, biological, healthy family. When I was in middle school, we went to a symposium for my disease and I got to meet other kids with Alagille Syndrome and that's when the community and connection truly started to save my life.
What led you to become an advocate and to help other young people?
When I was in college, I got heavily involved in my rare disease community. Looking back, it was a coping skill at that point because I couldn't control my disease, but could control what I did. I decided I was going to do everything I could while I could. If I am going to get to live so much longer than others in a rare disease community, I'm going to make it worthwhile. That has kept me going. It's not easy being an advocate. Being an advocate for myself is natural in my own rare disease community is pretty easy because I know a lot of people in it. Advocating beyond my rare disease is scary. I spoke at the first scientific meeting for my rare disease and it was through that experience that I found my experience and desire to make an impact is what keeps me going and helps me navigate.
What has been one of your most moving experiences so far?
Six years ago, I connected with Shamy on Facebook, who is another young adult from India that has my disease. We both commented on the same post of a mother who had just received a diagnosis for her child and she posted about the grief and worry associated with it. I commented honestly that it was going to be hard, and wasn't going to get easier in a lot of ways, but that her child was going to live a fulfilling, amazing life no matter how long it is. Shamy also commented similarly and one of us messaged one another and the friendship blossomed. It was two years ago that Shamy and I got to meet in person for the first time. We have gotten each other through heartbreak, had started a private Facebook support group for young adults with Alagille Syndrome, we had lost two or three members within the first year of doing it and we had gotten each other through so many things. I will never forget being at the airport, running towards each other, sobbing and we hugged and didn't let go. It was four years of love, affection, anger and frustration in this one hug. It was one of the happiest moments that I would have never had if it weren't for having my disease.
Do you have any advice for parents?
Remember, they're kids first. You go through the hardest and scariest parts of the disease for us at times when we're not able to communicate what's happening and that takes unspeakable amounts of strength. Remember that when we're older, able to make our own decisions, to have interests and hobbies, we're still a kid and we need to be able to do those things. Let your child live their life. Your kids will get hurt or do something stupid, but know that's not a testament to you as a caregiver or a parent, but a testament to your child doing something normal. Normalcy is so hard to find when you grow up with a rare disease. Validate and acknowledge that sometimes there aren't words for what you as a caregiver or your children are experiencing or feeling. Saying that can be helpful and help to empower your child to not know the words to describe what's happening. That no knowing is going to be a part of their life, so normalizing that is important. Cut yourself a break. There's no manual and you're doing the best you can. You know what's best for your child and that's all that matters.
LINKS AND RESOURCES MENTIONED
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