Ashley's help to global genetic research

Like every new parents, our life changed dramatically the day our daughter was born, here we welcomed a beautiful baby girl Ashley, a child that we had been wanting for so long. However, the journey that we’d expected had been put on a completely different direction, with the range of challenges she faces as a result of a rarely seen genetic condition. An opportunity has come up for Ashley to participate in a US-based global study to better understand her disability, and support her and a wider range of patients worldwide.

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 just kept getting longer and longer. We have seen over 30 specialists in the first 2 years of Ashley’s life. Often multiple Doctors within the same field as well as they often had to get additional professional opinions as they could not pin point the cause of Ashley’s array of issues, but knew something was different.

Test after test, appointment after appointment the list goes on. Ashley was always known as the little strong one throughout the hospital, it was not uncommon to have 8 people holding her steady just to get an x-ray or blood tests. She may be small, but she is strong. Each medical specialists undertook their own research investigating her physical and cognitive development delays and medical irregularities to determine what challenges this little girl would face.

It wasn’t until 2018 when Ashley was four that she undertook newly developed genetic testing which mapped her genetic sequencing, and discovered that she had a rarely seen genetic mutation. Not much was known about this condition and we had to wait until research developed further before we would know anything more.

This was not something that was passed on to her through family genes, but had manifested by itself. It was described to us that we were extremely unlucky and that this is very rare for this to have happened. Later that year we received notification that a case study in America had been conducted sampling 11 other known cases in the United States. It was like reading a description of each of Ashley’s challenges, covering every issue we had encountered with her to date. It reflected her poor growth, kidney issues, eye issues, feeding issues, high pallet issue, hearing issues, Intellectual disability, Autism, ADHD and the list goes on. It was a relief to discover what she had, and that it could be associated with other patients with the same genetic mutation. However, the global understanding of this condition was limited with such a small number of patients known to have it. Aside from the patients in this study, the medical community, and us didn’t know much more about what it meant for those who had this type of genetic condition.

We still continued on our journey of presenting to a wide range of medical specialists and therapists trying to provide Ashley with the best chance of success. We continually battle up to 14 appointments each fortnight between therapy, medical and extra supports that Ashley needs. We face the challenges that parents do when they have a child with a disability. The change in career path, the additional time investment to support their needs above neurotypical children, the comments from others, the judgement and looks as you deal with your child in public during a meltdown, the constant staring from others as your child wears an eye patch, between 2-6 hours a day, the comments on why your child hasn’t hit the developmental milestones, the continual why us thoughts that go through your mind, the continual guilt that you’re not doing enough, or haven’t done enough research, the guilt of taking too much time off work to attend all the appointments, the isolation as you can’t go out even to a park due to multiple toileting issues and sickness that your child faces, the isolation of not being able to do the things that most parents do with their children because your child couldn’t handle the noise, the crowds or the new surrounds. The looks your child get as they can’t handle a team sport but your just trying your best to expose them, the constant guilt that you’re not spending enough time with your other child, as your child with a disability needs so much help in everyday tasks. The constant phone calls, emails and paperwork that you need to stay on top off with therapists and specialists, the pure exhaustion with everything, the constant fighting to get the assistant you know your child needs, but yet due to lack of research of disability it is an even harder challenge. The extra medical expenses that come with having a child with a disability, medication, appointments, extra food costs as your time is spent in appointments or waiting rooms whilst others are out food shopping or cooking, the driving around to multiple stores buying the smallest school uniforms knowing that you will be returning them over the coming weeks all because you can’t take your child to try them on in the shop whilst knowing your facing another meltdown when you get home. The challenges and struggles are real and far-reaching.

It wasn’t until only recently we were doing our own research and discovered further research development is underway in the United States. The TET3 genetic mutation has now been described as Beck-Fahrner Syndrome , the doctor who identified the syndrome has won an award and been granted funding to undertake additional research into Beck-Fahrner Syndrome. There have now been 50 other cases in the world identified as having the syndrome, and they are asking for syndromic people to be involved in the research to gain a better understanding on how the syndrome affects physical and medical development. Ashley’s participation in the research will go a long way to better understanding of this condition, and how its impacts on patients can be minimized. Ashley’s involvement in the research opportunity will not only help our family in the long term, but can support the development of treatments and other methods to help that gene work for, and not against physical, mental and cognitive development. This will provide great benefit to existing patients, and those that are diagnosed in the future. Some of the testing can only be undertaken at the Johns Hopkins University in Baltimore in the United States, and we are reaching out to the community to see if there is any financial assistance for the costs associated to get Ashley involved in the testing to participate in the greatly important research.

We have longed for this day for many years, to be able to discover and learn more about Ashley’s syndrome. This will help her on her journey to success both now and into adulthood as we learn more about the syndrome. We are lucky enough to now have a small network internationally of other families battling the same journey and to know we are not alone. We are keen and eager to be involved in the research not only for Ashley, but to assist other families who may be living with to Beck-Fahrner Syndrome as more cases are identified. We want to be able to use our experience and mitigate this long road that we have faced for others going through a similar journey.

Despite the challenges that Ashley has faced and will continue to face as she gets older, she is a little trooper. Life has not and will not be easy for Ashley but we want to give her the best opportunities in life. She may be small but she has an extremely large personality and kind heart with a constant smile and beautiful laugh that brightens the room.

We thank you for taking the time to read a very small snippet of what we are facing and why we are trying to get to America to be involved in the research.