Like all new parents, our lives changed dramatically the day our daughter Ashley was born, and we welcomed the beautiful baby we had wanted for so long. However, the journey we’d expected went in a completely different direction, with the range of challenges Ashley faces because of a rare genetic condition.
Three days after Ashley was born, we heard the words, “your daughter may never walk”. We were referred to specialist after specialist as we encountered many issues that just couldn’t be explained. We were at the hospital multiple times each week seeing specialists and the list of Ashley’s doctors and specialists kept getting longer and longer. We saw over 30 specialists in the first two years of Ashley’s life. We often saw multiple doctors within the same field as they often sought additional professional opinions as they could not pinpoint the cause of Ashley’s array of issues although they knew something was different.
Ashley was always known as ‘the little strong one’ throughout hospital stays; it was common to have eight people holding her steady just to get an X-ray or blood tests. She may be small, but she is strong.
Each medical specialist undertook their own research to investigate Ashley’s physical and cognitive developmental delays and medical irregularities to try and determine what challenges our little girl would likely face. It wasn’t until 2018 when Ashley was four that she undertook newly developed genetic testing that mapped her genetic sequencing. It was then that we discovered she had a rarely seen genetic mutation.
In December 2022, we eventually discovered that the TET3 genetic mutation had been described as Beck-Fahrner syndrome. Not much was known about this syndrome, and we had to wait until research developed further before learning more. This condition was not something passed down to her through family genes but had manifested by itself. It was explained to us that we were extremely unlucky and that this condition is very rare. Later that year, we received news about a case study in the United States of America (the US) that had conducted sampling for 11 other known cases of the rarely seen genetic mutation in the US.
The case study provided the perfect description of Ashley’s challenges and covered every issue we had encountered at the time. It reflected her poor growth, kidney issues, eye issues, feeding issues, high pallet issue, hearing issues, intellectual disability, autism, attention-deficit/hyperactivity disorder and the list goes on. It was a relief to discover what we were experiencing could be associated with other patients with the same genetic mutation. However, with such a small number of patients known to have the condition, the global understanding was limited. We didn’t know what it meant for Ashley to have this condition.
Meanwhile, our family continued our journey of presenting to a wide range of medical specialists and therapists trying to provide Ashley with the best life and care. We continually battle up to 14 appointments each fortnight between therapy and the medical and extra supports that Ashley needs. We face the challenges that parents do when they have a child with a disability, including the:
- Necessary change in career path
- Additional time investment to support our child’s needs
- Comments on why your child hasn’t hit their developmental milestones
- Judgement and looks as you’re with your child in public during a meltdown
- Constant staring from others as your child wears an eye patch
- Continual ‘why us?’ thoughts that go through your mind
- Continual guilt that you’re not doing enough
- Guilt of taking too much time off work to attend appointments
- Isolation as you can’t even go out to a park due to the multiple toileting issues and sickness your child faces
- Isolation of being unable to do the things that most parents do with their children because your child can’t handle the noise, crowds or unfamiliar surroundings
- Constant guilt you’re not spending enough time with your other child
- Constant phone calls, emails and paperwork you need to stay on top of with therapists and specialists
- Pure exhaustion with everything in addition to the constant fighting to get the assistance you know your child needs
- Extra medical expenses that come with having a child with a disability
The challenges and struggles are real and far-reaching.
It wasn’t until December 2022 that we discovered the TET3 genetic mutation had been described as Beck-Fahrner syndrome. At the start of 2024, there were about 50 other cases globally. Research is showing that it is highly likely that many people with Beck-Fahrner syndrome remain undiagnosed or are misdiagnosed with other disorders. We travelled to Baltimore in the US in October 2023 to be involved in medical research and gain a better understanding of how the syndrome affects physical and medical development. During that visit, we connected with other Beck-Fahrner syndrome families facing similar challenges. It was an amazing opportunity to connect with others with similar experiences and challenges.
