Florence’s Story: An Update
Back in 2019, we shared the story of Florence, who was diagnosed with GM1 at age 2. Below, her mom shares how Florence is doing seven years later.
It’s been quite a while since we provided an update on Florence for our community (2019). How has GM1 progressed in that time period, and how is she handling the changes?
Flo is a super happy young lady now! She has handled everything thrown at her very well. The biggest changes are the fact that she can no longer sit up or crawl on her knees. It’s been a slow progression over time. She now rolls over and gets about where she needs to. It’s still her happiest place being free on the floor.
She also no longer really eats orally and is fed by a Percutaneous Endoscopic Gastronomy tube (PEG). This has been a really difficult rollercoaster, as she started to lose weight and was on a wait list for a PEG for a long time. She had to have a nasogastric (NG) tube for a while, and she was really good with it (even though she did pull it out a few times!) The PEG has been brilliant in terms of her gaining weight, but it’s been hard to find the right feed and amount for her. She has suffered with sickness and reflux. But overall, she has coped massively well with the changes.
*NG tubes run through the nose for temporary, short-term feeding, while PEG tubes are inserted through the skin into the stomach for long-term nutrition.
What has surprised you most about the progression of the disease?
I think the biggest surprise regarding the progression of the disease is that it’s not linear or predictable. It always keeps you on your toes. It’s a real rollercoaster. Florence is doing super well and is now 12. She is happy and communicates what she does and does not like. She has a fabulous side eye! She manages well and is happy and content most of the time. She takes everything in her stride, and that is a complete blessing.
How is Florence doing now?
She is now at high school, which is something I didn’t believe I’d see. It’s an amazing place where she is cared for and socializes with her peers and teachers. She is definitely the favorite in the class and the school! Everyone knows her cheeky and infectious smile.
If you could give advice to the family of a newly diagnosed child, what would it be?
I’d say to a family of a newly diagnosed child that your child will make their own rules, and they will “do” this journey in their own unique way. I would recommend that parents surround themselves with other parents that understand and make sure they are aware of all the help and support out there. In time, you learn to accept and appreciate the smallest of wins. It’s absolutely life-changing, but it can still bring joy, just in different ways.
To Read Florence’s 2019 Story, See Below
Florence has late infantile GM1. She was diagnosed when she was 2. She has real spirit and a zest for life. She dosnt let anything get in her way. Her family is determined to help her all the way and give her the best life possible. Her family and friends firmly believe in helping all the beautiful children suffering from GM1.
To read more about Florence, see these articles on her family’s efforts to help fundraise to support research and Florence’s medical care.