From the age of six months, we knew something was wrong with our daughter Becky. There were different symptoms that had started to emerge and developmental milestones she failed to meet. At eight months, we were told by a paediatrician that Becky had Global Development Delay and was possibly having multiple seizures. She needed an urgent head ultrasound and MRI. A referral for 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 was then followed up with a phone call to say I was not coping too well and perhaps should be referred to a counsellor. I was told to visit my GP for a referral or wait until we got into an early childhood intervention service. Upon entry into this unknown world, it felt as though I had been slapped in the face.
Becky tested positive twice in Australia to a rare genetic disorder. It was then decided that we would see if she fitted into a particular subgroup. Becky'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. The next step was to send Becky’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 European lab. Another long wait, and the original test results returned negative. We were told it didn’t look like she had the genetic disorder but it was best to wait until the other tests came back. Three months later they were also returned as negative. No genetic counselling was offered, despite our more than two-year wait.
After the original misdiagnosis another potential genetic disorder was investigated. 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.
Becky had been misdiagnosed twice already, why would I want to be let down again? Why would I want to have Becky’s genome sequenced if there was risk of another misdiagnosis? Why was it so important for me to get a diagnosis?
I wanted a diagnosis for any medical implications there might be for Becky in the future. Was the issue a dominant gene? Could my son be a carrier? If I knew what genetic disorder Becky had, I might be able to plan better for the future. Do other people with the same disorder have the same issues Becky has? What is their prognosis? I wanted to be able to say to people: 'Becky is a poor sleeper, she is uncoordinated, she has challenging behaviour and high anxiety, etc... and this is because she has Condition X. I don’t have poor parenting skills. There is a reason why Becky is the way she is.' I also wanted a diagnosis for practical reasons. For instance, bureaucracy and funding is a whole lot easier to negotiate if you can 'tick a box'.
Genome sequencing is our best chance of getting answers for Becky. Even though no doctor will guarantee the test is 100% accurate, it is the most reliable test we currently have, so I am happy to have Becky’s DNA sequenced.
One of the reasons I established Syndromes Without A Name (SWAN) Australia was to advocate for increased accuracy and quicker test turnaround times. Genome sequencing will get faster over time and become more accessible to patients.
We need to offer genome sequencing as part of a multi-disciplinary approach to medicine and fully support the patient. This could be done by educating medical staff about parents' emotional needs through increased use of genetic counsellors. I think the future of genome sequencing will be a positive step in moving forward and ensuring more genetic conditions are diagnosed.
Syndromes Without A Name (SWAN) Australia
Heather Renton is a member of the Melbourne Genomics Community Advisory Group. We sincerely thank her for sharing her family's story.