Providing information and support to families caring for a child with an undiagnosed or rare genetic condition.
From the age of six months, we knew something was wrong with our daughter, Rebecca. Different symptoms had started to emerge, and there were developmental milestones she failed to meet. At eight months, a paediatrician told me that Rebecca had global development delay and was possibly having multiple seizures. She needed an urgent head ultrasound and MRI. A number of genetic tests were ordered, none of which were explained to me.
Upon learning this news, I burst into tears and left the room. I then followed up with a phone call to Rebecca’s paediatrician to say I was not coping too well and ask her to refer me to a counsellor. I was told to visit my GP for a referral or wait until we got into an early childhood intervention service. I felt like I had been slapped in the face. Welcome to Limbo Land – an unknown destination full of isolation, anxiety and confusion.
Rebecca continued to develop at a slower rate than her peers. She walked at three years and eight months, and her speech developed slowly at the age of four. Even today, Rebecca struggles with fine and gross motor skills, communication and behaviour.
The search for a diagnosis for Rebecca continued. At a neurologist appointment when Rebecca was 12 months old, we were told that they didn’t know whether Rebecca would walk or talk and that she was missing the spark you usually see in children her age.
Finally, at a genetics appointment at age 14 months, we were told, “Rebecca looks like a child who might be missing a chromosome”, but they were unsure which one.
More genetic testing was ordered for a genetic syndrome – Congenital Disorders of Glycosylation (CDG Syndrome), which the geneticist suspected Rebecca had.
After testing twice positive in Australia for CDG Syndrome – Type 2X (X standing for unknown), the next step was to see what subgroup she fitted into. Rebecca’s DNA was sent off to a lab in one state, only to be sent to another lab in another state several months later. The test came back negative for a marker for a particular subgroup of CDG type 2. The next step was to send Rebecca’s DNA and skin cells to a lab in Europe for analysis to try and determine which subgroup of the genetic disorder she belonged to. After a year of waiting, the test results were deemed ‘presumed missing’. More DNA was taken and sent off to another laboratory in Europe. Another long wait followed, and the original test results were returned negative. We were told it didn’t look like she had CDG Syndrome, but it was best to wait until the other test results came back. Three months later, they were also returned to us with a negative result. No genetic counselling was offered, despite waiting more than two years for test results.
After the original misdiagnosis and a long wait, we saw a geneticist who suggested Rebecca may have a condition called Loeys-Dietz syndrome. We were informed that test results would be available in around three months, but we received them after six months (and after many emails and phone follow-ups on my behalf, as I was not prepared to wait over two years again). Again, no genetic counselling was offered.
And then finally, we were offered a place in a research program where they offered us a trio exome in the hope of finding a diagnosis for Rebecca. The thought of receiving yet another misdiagnosis did cross my mind. I also thought this was the best chance we had of finding a diagnosis for Rebecca, so I wanted to take the opportunity.
There were many reasons I wanted a diagnosis. The main one was to learn about any medical implications there might be for Rebecca in the future. Was this caused by a dominant gene? Could my son be a carrier? If I knew what genetic disorder Rebecca had, I might be able to plan better for the future. Do other people with the same condition have the same issues as Rebecca? What is their prognosis? I wanted to be able to say to people: “Rebecca is a poor sleeper, she is uncoordinated, she has challenging behaviour and high anxiety, etc… and this is because she has ‘Syndrome X’. I don’t have poor parenting skills. There is a reason why Rebecca is the way she is.” I also wanted a diagnosis for practical reasons. For example, bureaucracy and funding are a whole lot easier to negotiate if you can ‘tick a box’.
After 14 months of waiting for our exome results, we finally got a diagnosis – FOXP1 Syndrome. We waited almost five years for test results over a nine-year period. To us, the diagnosis made sense. The phenotype, symptoms and social behaviours all matched. With a diagnosis came relief, acceptance and our curiosity was resolved. I have connected with other families who have a child with the same condition for peer support. We have a better idea about what the future holds for Rebecca, and we have a greater acceptance of her social behaviours, as we now know they are linked to her genetic condition. We have knowledge about her condition and have contributed to research into FOXP1. With all those things, comes knowledge and empowerment.
“I cannot change the past and the struggle we went through to receive a diagnosis for Rebecca. I can, however, learn from our journey and advocate for improvements in the diagnosis process and support system for others.”
I don’t want other parents to travel the frustrating pathway we did to receive a diagnosis. This was one of the reasons I established SWAN. I know firsthand how isolating it is when you don’t have a diagnosis and when your child does not “tick a box”. It can be a low place to be, and I don’t want others to feel unsupported on their journey. I want SWAN parents to be able to connect with one another for support. Although every child is unique, it is our children’s different rare genetic conditions that unite us. Never underestimate the value of peer support.