Are you looking for some support as a parent of a child with a rare disease? Or perhaps you’re just curious about the topic?
There are approximately 7,000 known rare diseases in the world. Unfortunately, there are still a few misconceptions and stigma in today’s society regarding kids with disabilities, rare diseases, and special needs. So, who better to help normalize the topic and encourage other parents going through the same journey than the parent of a child with special needs!
Effie Parks is the amazing mom of Ford, an incredible little boy with special needs. And she has kindly agreed to give us some insights into her world.
When she is not a multitasking mom, Effie hosts a podcast called Once Upon a Gene, where she talks about her story of raising a young child with a rare disease. Through her podcast, she strives to explore the world of raising children with disabilities and rare genetic disorders, sharing her story and others’ stories, and discussing how to bring up such special kids.
We hope her story will inspire you as a parent of a kid with special needs and help you on this challenging but rewarding journey.
Effie has a four-year-old son called Ford. Ford has a rare disease called the CTNNB1 syndrome, named after the CTNNB1 gene. It is one of the rarest diseases on the planet. When someone has the CTNNB1 syndrome, they don’t produce enough of a protein called β-catenin. This protein helps with cell reproduction. The rare condition causes a waterfall of effects that impact kids in different ways. Unfortunately, Ford is on the severe end of the spectrum and can’t sit, crawl, walk or even speak. He is also experiencing mental delays and vision issues.
Ford was Effie’s first child. So, she wasn’t sure what to do when she realized it was impossible to feed him. Besides, he wasn’t sleeping, and he seemed in pain. Effie and her husband started to take Ford to the pediatrician once a week as things weren’t getting any better. They were told not to worry, and the issue was probably a breastfeeding problem. According to the doctor, seeing the lactation specialists was the recommendation and this went on until Ford was four months old. Pretty intense four months for first-time parents, as you can imagine!
During one of the doctor’s appointments, the couple was sent to the ER as the specialist expressed genuine concerns about Ford. The parents anxiously waited for the results to come back.
Effie still remembers that dreadful phone call. It was, understandably, one of the most debilitating moments in her life. Her son had a rare disease.
When the couple found out about the diagnosis, their son was 16 months old. They were told that only 29 other patients in the world were known to have the same condition. The geneticist told them all specialists knew about the disease is that some people could talk, and some could walk. That was pretty much it. Not much to work with now, is it?
The geneticist told Effie to bring her child to physical, speech, and occupational therapies as there were no cures or treatments.
The devastated mom started to research the disease and found a lot more information than she had been left with. Indeed, she found out that, at the time, there were actually 50 patients with the CTNNB1 syndrome. There was also an organization providing resources for parents with the syndrome, which is when she realized she couldn’t simply rely on doctors. She had to get involved. In fact, what Effie found difficult during this period was that challenging a doctor was not really the norm, and yet, they didn't know everything.
One of the most difficult things in this whole process for Effie was to reassess and adjust her initial expectations. After all, she had been dreaming for years to have a family. She would raise a healthy child, and they would then go on and become an astronaut and change the world (yep, Effie likes thinking big!). When she learned about her son’s rare disease, the news completely shattered her world, and she was in shock, completely devastated.
The amazing mom had to forget her expectations, try and find ways to cope, keep her head above the water, and not get sucked into fear and depression. This was an incredibly challenging time, especially when her friends’ kids were doing so well.
That’s one of the reasons why she started the podcast. She didn’t know anyone in a similar situation and didn’t know much about rare diseases, disabilities, and special needs kids. Let alone how to bring up such a special kid! She felt isolated and thought the podcast could help her share her story and connect with people experiencing similar situations.
Effie also shares how difficult it became to connect with her girlfriends. With the best of intentions and to help her through this, they would tell her Ford was going to get better and grow out of it. But all this did was make her feel as they were downplaying the harsh reality. Effie slowly grew apart from her girlfriends even though she is still in contact, and they’re very supportive. She had a whole different idea of their kids growing up together and just wasn’t ready to attend kids’ functions. So, she decided to take her time while keeping in touch. And guess what? That is absolutely okay and acceptable!
Triumphs and Struggles
Ford has been working really hard and still is. He’s now laughing and doing treks with this wheelchair, wheeling around the house! He understands directions, and he’s done a lot of physical work to build up the muscles to get where he wants to go.
He is also doing hippotherapy, a type of therapy that harnesses the natural gait and movement of horses to improve neurologic functions and sensory processes in disabled people. Effie thinks that this has been the most effective kind of therapy, as she witnessed the tremendous physical progress, such as the strengthening of his back muscles. She believes hippotherapy will eventually help him sit and crawl.
Thanks to all this hard work, this amazing little boy has become more independent, and Effie is very proud of him. She is excited about what the future holds for him!
School has also played a huge part in Ford’s development.
Unfortunately, the beginning of the pandemic led to schools shutting down and therapy opportunities being were put on hold. Not being able to interact and be social is a major issue for disabled kids as it hinders their development and progress. Some were or still are regressing severely. It has been hard for Effie and other families with disabled little ones. Of course, there’s still Zoom, but it’s not the same as interacting socially and having a one-on-one, face-to-face approach. Disabled kids are all losing precious skills during these unusual times, which is very frustrating for parents.
Having a disabled kid also puts pressure on relationships between the parents. Only 5% of marriages of parents who have kids with special needs survive. Not very encouraging! Yet, Effie was blessed enough to have a strong network around her and a supportive family, ensuring they can take some time to themselves and nurture their relationship. If anything, Effie thinks that it has empowered them as a couple and strengthened their relationship. I mean if you're ever blessed to meet her, you'd want to be in that percentage with her too.
Ford’s parents are hoping that little Ford can grow up surrounded by people who don’t have much to do with special needs kids, other kids like him, and kids without any disability. They’re really trying to make the community more inclusive. Effie has even made it possible to start the conversations and groundwork to include a playground for kiddos with disabilities in her town.
When it comes to disabled people, we’re usually told not to look or ask questions. This created a wall between the disabled community and the rest of society. Unfortunately, disabled people are rarely included or acknowledged as being an integral part of a diverse community. Indeed, race, gender, religion are all common words associated with diversity. However, if we’re being honest, disability is usually not what most of us have in mind regarding diversity. That’s why Effie encourages people to come and say hello, wave, or smile rather than stare at disabled people and make it awkward, which she has witnessed too many times. Ford’s mom also invites people to ask questions and include disabled people in the conversation, making them feel seen. After all, they’re disabled, not invisible!
Effie and her husband also have a two year old little girl named Esme. She is a typical child, and Effie is amazed at everything she does. Experiencing a typical child’s behavior (including stealing her mom’s lip gloss!) feels miraculous to both parents. Ford’s sister doesn’t yet understand what Ford’s disability is. But her parents are planning to start the conversation around the issue soon and will encourage an open conversation about it. Effie is trying to learn from other families with both disabled and non-disabled kids. She wants to make sure she approaches the conversation the right way and places herself in the shoes of a sibling to try and understand their perspective. One of the things the mom of two is most conscious about is that she has to spend a lot of time taking care of Ford before taking care of Esme.
Ford coming into Effie’s life has completely changed her life and, in many instances, for the better. She has stopped passing judgment on others. And she found a community she never thought she would connect with. Through this new network, she has met many incredible individuals and is looking forward to meeting more. Ford’s disease has opened her eyes, and she has become more open-minded. This experience has also prompted her to start a podcast and be on the Disorder Channel, which she never thought she would do. And she loves it!
Sure, Ford will never be an astronaut. Yet, he‘s still making an impact through his parents raising awareness around rare diseases and disabilities and trying to build a more inclusive community!
If you’re experiencing similar difficulties, Effie believes sharing your story with others could positively impact someone else’s life and give them the strength to keep going. They might also connect with you and become one of your best friends. Who knows? After all, life is full of surprises ;)