Mum of four children living with disabling rare neuromuscular disease GNEM raises awareness for foundation aiming to find a cure
Raising multiple children under the most routine circumstances is a herculean feat. Raising multiple children who are living with disabilities qualifies as next level super hero’ing. Meet Antoinette, the mother and caregiver to four children, all of whom have been diagnosed with GNE Myopathy (GNEM), a very rare genetic disease that causes deterioration of the muscle tissues.
After Antoinette learned of her children’s condition, she determined to prioritise instilling the knowledge and confidence in them to always pursue their dreams, and focus first on their genuine interests, without being deterred by GNEM. Today, with only one of her children still residing at home.
Antoinette shares some of the lessons and insights that she’s picked up along her challenging, but joyful family journey.
Q. Can you give a little background into your family’s diagnosis?
Our daughter Linda was the first to get diagnosed and then my son Jimmy, and my other two daughters Stephanie and Amy. Their first diagnosis was CMT, then SMA, and then through DNA testing, they realised it wasn’t either of them and one of the doctors finally came up with GNE Myopathy. Each child, each one – is at a different stage of the disease.
Q. Do you remember how you felt when your kids were finally diagnosed with GNE Myopathy?
Yes, I was glad the doctors finally had the correct disease. I was heartbroken it had happened to not one, but all my children. And I was disappointed that it was rare – and with no immediate cure, going back some twenty years ago. But thanks to research today, there could be a light at the end of the tunnel.
Q. Can you talk about the struggles of being both a parent and a caregiver to all four of your kids?
”One of my hardest struggles I think, was watching GNE Myopathy slowly disabling them. And there was nothing I could do to stop it.
Q. As a parent, what would you like to say to another parent who is new to this disease?
I would tell them to try and take one day at a time. My children started showing symptoms in their late teens. I encouraged them to follow their dreams, and meet as many people as they could. As the disease progressed, I always supported whatever change my children decided. GNE Myopathy doesn’t mean you can’t follow your dreams. Or that your dreams can’t change one way. Just follow your heart, always.
I would tell them to try and take one day at a time. My children started showing symptoms in their late teens. I encouraged them to follow their dreams, and meet as many people as they could.
As far as their daily care, and as a parent, it is my privilege to care for them as long as I’m able.
Q. Do you have a favourite item that helps you in your day to day?
Linda is our only child that is still living with us and having a ceiling mounted lift is a lifesaver. As I get older, I don’t think I could have kept transferring her. For relaxation, I enjoy reading, doing puzzles, walking, and nature.
Q. What has really surprised you about GNEM?
What’s really surprising is how something that can be so easy can change overnight. For example, going up a step – whether it be small or big – one day, and not being able to do it the next.
Putting on a shirt, brushing teeth, able to put on socks and shoes. . . Also, how the disease has progressed differently with each child.
Q. How did your children’s diagnoses affect your family as a whole?
We were always close. But I think their diagnoses brought us even closer together. When we get together, we brainstorm ways to get through their daily struggles. It’s been very helpful. We also don’t forget to have fun and laugh a lot, and that’s been very helpful.
Helpful Resources for Patients Living with GNEM & Their Families
Antoinette and her family have become part of the Neuromuscular Disease Foundation (NDF) community in Beverly Hills, CA. NDF is a nonprofit organisation dedicated to enhancing the lives of those living with GNEM and their families. Antoinette and her family have found tremendous support through NDF’s patient wellness programs, patient support groups, and informational services and online resources. Today, Antoinette is an advocate for all of the mothers out there who are struggling to provide their children living with disabilities the privilege of an unfettered future, and the unlimited chance to chase their dreams.
What Is GNE Myopathy (GNEM) / HIBM?
”GNE Myopathy, or “GNEM,” is a neuromuscular disease that exists in races and nationalities worldwide, with elevated carrier rates in certain populations of the Middle East, Eastern Europe and Asia. ”
GNE Myopathy is an autosomal recessive genetic disease caused by defects in a single gene called “GNE” . The GNE enzyme is responsible for producing sialic acid, an important component of muscles. The defect causes muscles to weaken over time. In order for a child to inherit the GNE gene, both parents must be carriers of the autosomal recessive genetic disease. Carriers are unaffected and asymptomatic. ”
To learn more about GNE Myopathy watch this video:
How Is The Neuromuscular Disease Foundation Leading The Way To A Cure?
The NDF is a global leader in critical research focused on treatments and a cure for GNEM. NDF is the single largest advocacy group for patients of GNE Myopathy (GNEM). The nonprofit’s fundraising has provided multiple clinical studies of gene therapy treatments and other research solely focused on delivering a cure for the difficult-to-diagnose disease, which typically first presents in one’s early twenties, via a unique neurologically caused symptom referred to as “foot drop,” or the inability to lift the front of the foot, which makes common activities such as climbing stairs or jogging difficult for patients.
”The Beverly Hills based nonprofit hosts an annual gala that generates critical funding in support of NDF’s impressive roster of valuable community offerings: scientific research grants, an eponymous Wellness Center that treats the mental and emotional health of GNEM patients, global advocacy programs to raise awareness of the disease, a calendar of both Scientific consortiums and patient-oriented symposiums, local meetings and support groups, a speaker series (available remotely via podcast) bringing world class expertise from leading rare disease scientists, researchers and medical professionals directly to GNEM advocates, patients and their families, and a wealth of online educational and awareness resources, including the NDF Learning Library, a comprehensive listing of informational videos, podcasts, audible speaker series’, webinars and other information helpful to the GNE Myopathy (GNEM) community.