Child Spotlight: Amaya

 

1. Please introduce your child and list the name of their diagnosis

Amaya was born in July 2018. Genetic testing was recommended when Amaya turned 1 after noticing an array of medical issues early on including hypotonia (low muscle tone), strabismus (eye turn), central apnea, small stature, a delay in meeting gross motor, fine motor and communication milestones, and some unique characteristics like little to no crying and a very high pain tolerance.

In October 2020, Amaya was diagnosed with HADDS (hypotonia, ataxia and delayed development syndrome), a rare neurodevelopmental syndrome caused by a mutation (deletion, missense, frameshift, or duplication) in the EBF3 gene on chromosome 10q26.3.

Though there are only 20-30 instances of HADDS covered in medical literature, it is believed there are around 200 individuals worldwide with HADDS. There are five individuals with HADDS in Canada that we know of.

2. Tell us how this diagnosis affects Amaya and your family’s day-to-day life.

There are a broad range of medical symptoms that can come with a HADDS diagnosis, with each individual presenting differently. One of Amaya’s biggest challenges currently is ataxia which causes balance issues. She uses a gait trainer (walker) to help with walking, but she’s taking more independent steps every day. Amaya has gross motor, fine motor and speech language delays, so we work with a physical therapist, occupational therapist and a speech language pathologist to help Amaya build her skills in these areas. Similar to other individuals with HADDS, Amaya has an expressive speech delay and often has difficulty expressing emotion verbally or through facial expressions. Because of this, Amaya’s social interactions are different from neurotypical kids her age.

3. What have you learned from your child and being her parent?

It sounds cliché, but being Amaya’s parent and seeing how she approaches the world has made me view life through a different lens. Amaya has taught me so much about working hard and having perseverance. She’s incredibly observant and this helps me take the time to notice the little things in life. Amaya also has a wildly impressive memory, which reminds me about the importance of doing activities that make memories when it’s so easy to get caught up in the day to day.

As a disability parent, I have a newfound awareness for advocacy and accessibility, and I’ve become more empathetic and patient.

4. What is something that makes your child happy?

Amaya loves gymnastics and swimming and works so hard at both. When we go, it’s also like sneaking in additional physical therapy so that’s a good thing too. Amaya is also super curious about how things work and loves doing science experiments. She likes to talk about space, and we are very grateful for the many Astronaut Chris Hadfield videos on YouTube. She enjoys making artwork, but I think painting her hands is more fun than painting paper.

4. If you could give any advice or guidance to a fellow mom receiving a new or similar diagnosis, what would it be?

For others receiving a genetic diagnosis, one thing I think is important to remember is that (if it’s genetic), it’s always been there. Having a name for the syndrome doesn’t change who your child is or define your child and their potential skills and abilities; it’s just part of who they are. What was helpful for us was to reframe the diagnosis. Having additional information on the medical characteristics associated with HADDS gave us the opportunity to proactively seek appropriate support.

Leaning on others is so important. Find your people who you can be open and honest with around the feelings related to diagnosis or being a disability parent. We have been able to connect with other HADDS families and disability parents to ask questions, share achievements and discuss challenges. This has not only been so amazingly helpful, but also made us feel less alone in our journey.

I’d also say don’t forget about yourself in the process. A diagnosis comes with a lot of feels, and some that might creep up way after the diagnosis itself. Don’t dismiss what you might be feeling — your mental health matters! There are unique challenges that come with being a disability parent so reach out to others when you need to.

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