From the age of six months, we knew something was wrong with our daughter Rebecca. There were different symptoms that had started to emerge and developmental milestones she failed to meet. At eight months, I was told by a paediatrician 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 could she refer me onto 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 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, walking at 3 years 8 months and with speech developing slowly at the age of 4. 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 she was “missing the spark” you usually see in children her age. Finally, at a genetics appointment at 14 months we told “Rebecca looks like a child who might be missing a chromosome but they were unsure which one”. So 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 European. Another long wait, 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 as negative result. No genetic counselling was offered, despite waiting more than two years for test results.
After the original misdiagnosis and another long wait to see a geneticist, another genetic syndrome was suggested, this time Loeys-Dietz syndrome. After being told the results would return in around three months, we received them after six months (with a lot of email and phone follow up 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 yet another misdiagnosis did cross my mind but I also this is the best chance we have of receiving a diagnosis for Rebecca so I wanted to take it.
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 the issue 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 disorder have the same issues Rebecca has? 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 is a whole lot easier to negotiate if you can ‘tick a box’.
After 14 months of waiting for our exome results to be returned, we finally got a diagnosis – FOXP1 Syndrome. We waited almost five years for test results to be returned over a nine year period. To us, it just made sense, as the phenotype, symptoms and social behaviours all matched. With a diagnosis came, relief, acceptance and our curiosity resolved. I have been able to connect 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 for her social behaviours, as we now know it is linked to her genetic condition. We have knowledge about her genetic condition, have contributed to research into FOXP1 and with all those things, comes empowerment.
Heather Renton – 2018