By: Maree Grover, Australia
Our daughter Olivia is the fifth in our family of five children and was born in June 1985. She was a smaller baby than her siblings and I had been very unwell for all of that pregnancy. Olivia was a breastfed baby until about 8 months of age, she was a floppy baby and difficult to feed.
Had Olivia not been my fifth child, I would have floundered more than I did with her early months of life. She was difficult to settle to sleep, constantly vomited back her feeds, suffered severe constipation and was often very unwell. Olivia was called a Failure-To-Thrive Baby by health care professionals, whereas I was used to chubby little baby hands & arms and roly-poly legged babies.
Olivia was referred to a gastroenterologist for feeding problems, then to a neurologist and RCH developmental assessment team to look at her severely delayed development. Finally, my husband and I, as well as Olivia were examined by a geneticist, when she was around two years of age. It was decided Olivia did have a genetic condition, unknown at that time but a request for tissue and blood samples was made and her tissue kept to test when new discoveries occurred.
Olivia could have hours of episodes of hyper-ventilating at night and that meant severe sleep deprivation by her parents in her early life, this started around two and half to three years of age. Olivia also had periods where she could breath hold for an unusually long time. She would repeatedly engage in this activity.
I constantly read and researched looking for evidence of other children like Olivia and to see if she matched any known syndromes. At three and half years to four years of age recognisable seizures commenced. It is conceivable Olivia had been experiencing seizures from early infancy except that I didn’t recognise them. Olivia had multiple episodes of turning deep blue around the mouth in her first months of life.
She was under the care of a child neurologist and had multiple admissions to the Royal Children’s Hospital, Melbourne for chest infections & seizure management. We enlisted the help of the Epilepsy Foundation Victoria and got lots of valuable information from them. The search to give Olivia’s condition a name and address her now multiple & complex medical needs continued and her neurologist at that time assigned the name to her condition “progressive degenerative neurological disorder”. We went with that as our daughter seemed to be losing the skills that she had so painfully and slowly gained. A paediatrician, to whom we were referred to when Olivia was six years of age believed like myself at the time, that Olivia was an atypical variant of Rett Syndrome. This condition most aligned with what we saw displayed by our daughter both in behaviours and clinical features.
When Olivia was around 8 to 9 years of age, we changed to different neurologist to have her looked at with “fresh eyes”. Further testing was done to rule out Angelman’s syndrome and other rare syndromes known at that time. We still see Professor Ingrid Scheffer to this day, her expertise is known internationally as she treats patients with severe and complex epilepsy. Under Professor Scheffer’s management of Olivia, she has been introduced to a wide range of anti-epileptic drugs, some still in use, others unsuitable or best fit for Olivia. Olivia has Lennox-Gastaut type epilepsy, this is an early childhood onset of epilepsy with multiple seizure types, which change over time. Olivia has experienced and still has many seizure types. This is the most disabling condition that Olivia faces in her daily life. Olivia is non-verbal, she is ambulant and has a severe intellectual disability.
Olivia’s gross motor ability varies considerably, dependent upon her seizure activity. She is cheeky and runs our household. Olivia is admired by those who know her, for her gritty determination and resilience. She has a funny sense of humour and when we think she isn’t following our conversation, she will react with a giggle or hearty chuckle at the appropriate moment. We believe Olivia knows more than any formal assessment can reveal. Olivia has participated in therapy programs across her lifetime and enjoys weekly her music therapy sessions, it is her truly special time to relax & unwind!
Olivia’s seizures worsened in her adolescent years, when myoclonic seizures emerged. At this time the early use of Vagal Nerve Stimulator implants were being used to help young patients with severe epilepsy at RCH, Melbourne and other Victorian hospitals. We were told about this procedure and of the use of the Ketogenic diet in assisting some people with epilepsy. Ketogenic diet would have been nigh on impossible to implement for Olivia. We decided that was not something we’d attempt for Olivia just yet. With improved AEDs coming onto the market, that to us seemed a more acceptable pathway to take with Olivia.
In May 2007 Olivia was put on the list for a VNS and later that year she under went surgery to have the device implanted. It has made a difference to Olivia’s quality of life, she has shown a reduction in severity of nocturnal seizures since having the VNS and her mood was also lifted, a great benefit that we’d hoped for but were pleasantly surprised when it became evident. The number of daily “drop attack” type seizures were also reduced. Liv continues to have daily seizures and is now on the world wide fenfluramine trial under the Austin Hospital, Melbourne to improve her seizure management.
Since Olivia has been with the Austin Epilepsy Research program for many years, her case is regularly reviewed. In 2014, we were asked permission for a blood sample to be taken for genetic screening. Olivia was almost 30 years of age. We waited a long time for a result, since it part of a research project, her genome sequencing results were not made available to us until the research paper was published. In 2016, we learnt from Professor Ingrid Scheffer that whole exome sequencing project had found that the most likely cause of Olivia’s developmental epileptic encephalopathy. Olivia has a variant of the gene MLL also known as KMT2A. The variant is c.3460C>T This gene has been identified as the cause of Wiedemann-Steiner syndrome.
It was a relief for Olivia’s elder sister to learn of this genetic finding before commencing her family. Olivia’s 3 older brothers by this time all had their own children. One of our grandchildren, like Olivia, is on the Autism Spectrum, however there are not any other known genetic conditions amongst our 9 grandchildren, aged three to fourteen and half years.
Olivia enjoys a fabulous quality of life where we reside on the Bass Coast, on the south coast of Australia. She is greatly cherished by her siblings and her many young nieces and nephews. She has a wonderful band of support workers who assist us in her daily care. We are retired now and getting on in years and need their support in the continuing care required for our daughter to remain living at home. Seizures worry us but we have not let them stop Olivia from doing what she loves, getting out and about in her community. She swims in the sea and at a local beach resort with a heated pool, always assisted in and around the water by two people. She does beach walks, wetland tramps, runs around the footy oval (one of her support workers is a fitness trainer) and loves a hot chocolate from a local café. These days due to COVID the hot chocolate is had outdoors.
Wiedemann-Steiner syndrome is just a label; it doesn’t define our daughter nor the life she lives.