All our dreams came true, when Scarlett Rachel Elaine was born on 23rd September 2015. Although we weren't expecting the C-section or cleft palate, we were expecting the club foot and an otherwise healthy and beautiful baby girl. After a short stay in PMH's neonatal unit, learning how to feed Scarlett with a special cleft palate bottle, we were off home and life seemed complete. It wasn't until we were at a pediatrician appointment for Scarlett's reflux, that we heard a word that would soon turn out to completely change our lives forever.
Scarlett was a "HYPOTONIC" baby... What did that mean? What is Hypotonic? Does Scarlett have Hypotonia?
Hypotonia seemed terrifying to us! Not only did it refer to a floppy and low muscle tone baby, but quite often indicated a serious underlying medical condition, be it viral, metabolic or genetic. We pushed to go back to the pediatrician when Scarlett was 4 months old, and we realised Scarlett couldn't hold up her head, maintain eye contact, fix and follow, grab or even seem interested in toys, and wasn't meeting the usual milestones. It was very hard to admit that, although 100% perfect to us in every single way, Scarlett was different and we had to help her. Over a year later and unfortunately Scarlett still can't do most of those things, but she has definitely shown a lot of progress and promise towards them.
Scarlett’s life has been a constant flow of medical appointments, tests and therapies. Scarlett had her first surgery at just 8 weeks of age, and has been put under General Anesthetic over 5 times already. Scarlett has been diagnosed with Hypotonia, cortical vision impairment, global development delays, bilateral severe sensorineural hearing loss, and generalised epileptiform disorder; which just means she is at high risk of seizures. But the journey to find her central diagnosis (and the ultimate cause of all her challenges) has been a long one. Scarlett has had brain and abdominal ultrasounds, an MRI, cerebral spinal fluid analysis, metabolic tests, TORCH screen, genetic Microarray, a whole bunch of EEGs (electroencephalogram), as well as long chain fatty acid, lysosomal testing, and more blood and urine tests than we care to remember – BUT it wasn’t until Mum stumbled across ‘Whole Exome Sequencing’ available in America that we eventually found the answer to Scarlett’s challenges.
The basic level of genetic testing widely available here in Australia is called a Microarray Analysis. Although Microarray is commonly successful in identifying genetic disorders, and looks for extra (duplicated) or missing (deleted) chromosomal regions, it cannot identify point mutations in a single gene (which is what Scarlett has). Geneticists here in Perth then move to panel testing (for example there are panels of genes identified for particular conditions, i.e. epilepsy panels). However, unfortunately Scarlett doesn’t really fit the mold for any one condition, so, although our geneticists mentioned a neuro-degenerative condition (called PEHO) they also explained that there was no test available for this and unfortunately we would just have to wait and see….
BUT we couldn’t!! We got in touch with project coordinators from “MyGene2” at the University of Washington, to organise next generation sequencing. After all the tests, some of which invasive, all it took was saliva sample (and a bill for nearly $1,000), AND we got our answer. Scarlett has a pathogenic variant on her GNB1 gene that is linked to a severe neuro-developmental disorder. Scarlett is the first person in WA to be tested for the GNB1 mutation, and the abnormality was clinically confirmed on 21 June 2017, via the Genetic Services of WA laboratory. They were also able to confirm the abnormality is not inherited from either Marcus or I, and is a "de novo" mutation. This means it is a new mutation with a less than 1% chance of it ever happening again. We have also been able to connect with several other families around the world, including a beautiful little girl from Spain, with the exact same strand of the disorder as Scarlett.
Scarlett is a charismatic girl, with a heart of gold, strength of a warrior and tolerance of a buddha. She is beyond happy, and has a smile that lights up a room and our lives every day. We are very blessed to have her! Not only does she bring us unimaginable joy, but she has made us better people and a stronger couple. Scarlett may never be able hold up her head, sit, roll, crawl, walk or any of those simple things we all take for granted. And our only hope is that we can give Scarlett every therapy and assistance so that she can blow us all away with her progress.