On the 7th of July 2019, 21 members of the Australian Health Professionals team will be pounding the pavement and running the Gold Coast Marathon for Charlie. Charlie is a lovable boy who has been suffering from a rare disorder that has severely affected his growth and development.
Charlie was born on the 13th of December 2017. Arriving one day early but nevertheless a beautiful baby boy weighing in at 2.7 kilos. Charlie was a younger brother to three-year-old Oliver and a wonderful addition to the family of Ben and Mary Thurlow. Mary previously met Ben in the very same hospital where both the boys were born whilst she was employed as a nurse in the intensive care unit and Ben worked as a pharmacist.
Charlie initially presented as a perfectly normal healthy baby. He fed and slept well, and met the normal developmental milestones for the first few weeks. Charlie was however being treated for slight torticollis (neck stiffness) for which he receives regular physiotherapy although with only limited improvement.
When Charlie was three months old Mary and Ben began to have real concerns due to the slow development and inability of Charlie to turn his head both ways and track toys from left to right. It was at this point they took Charlie back to his Paediatrician as they felt that something was not right.
The Paediatrician acknowledged that something was wrong with Charlie’s growth and development. They were told that he appeared to be suffering from global development delay as there were a significant head lag and severe hypotonia (floppiness). Charlie was referred to a Neurologist, who completed an ultrasound of his brain. This showed enlarged ventricles and an abnormally small cerebellum.
There was no improvement or progress over the next few months. Charlie in fact had started to lose weight and was in the bottom 0.01% percentage of weight for his age. There had been multiple blood tests which gave no answers. Charlie had started to develop involuntary movements when resting; similar to that of Parkinson’s Disease and commonly referred to as dyskinesia. This was further affecting his ability to reach common milestones.
Mary & Ben were extremely worried about their younger son, not only due to his weight loss but also the many other problems that were starting to emerge as time went on. With still no idea of his prognosis, the doctors decided that Charlie needed to be placed on a nasogastric feeding tube which would, they hoped, provide him with adequate nutrition to energise his failing muscle tone and all over body strength.
The Paediatric Neurologist felt that all of Charlie’s symptoms were consistent with a genetic condition and referred him to a Geneticist. After viewing Charlie, the Geneticist believed the genes that were causing all his symptoms were consistent with microcephaly and global development delay. Microcephaly presents as an abnormally small head for his age and because of this both Charlie and his parents had blood sent to America to be examined by a Microcephaly Development Delay Gene Panel.
The blood tests took about three months to come back to Australia and revealed that Charlie seemed to be suffering from Hyperprolinemia. Hyperprolinemia is a very rare genetic disorder which prevents the production of key amino acid and causes many of the symptoms that Charlie was displaying. However, blood and urine tests from Charlie confirmed that he was not suffering from Hyperprolinemia as his proline levels were normal.
By this time Charlie was nearly 12 months old and sadly had shown no signs of improvement. Unlike other children his age, he was still unable to use his hands, could not grasp or grab to reach for toys or even place his hands in his mouth which was extremely frustrating for him especially when he was teething. He was unable to lift his head, sit or roll and had severe hypertonia and floppiness. He patiently watched his big brother playing close by but could not interact or join him physically in play. Whilst his body behaves like a three-month-old baby, his awareness is far beyond this age. When something he is playing with rolls out of his grasp he cries to get assistance. His worst symptoms are his extreme head and neck weakness, the correction of which is necessary to allow any movement and walking. Charlie’s head still maintains a strong and prevalent preference to one side which, now conjoined with an involuntary movement disorder, is holding him back from possibly learning to walk and talk. His Mum’s dearest wish is for Charlie to reach his full potential and, hopefully, one day reach out to her and say ‘Mum’. Without any prognosis or specialised treatment/ equipment, such goals are simply pipe dreams.
Charlie is a lovable little boy; his endearing personality and beautiful smile has kept his family going through the tough times and ultimately gives them hope for a future for their son. His life has become a treadmill of therapy sessions and specialist appointments. He attends physio, speech and occupational therapy appointments four times a week as well as constant therapy at home. Although progress appears to be minimal, Ben and Mary are determined to achieve the best quality of life for Charlie.
From a medical standpoint, the genetic testing has proven unsuccessful, having been seen by multiple neurologists, paediatricians, a geneticist and neurosurgeons who have referred him to a Movement Disorder Clinic and a Metabolic Disorder Clinic at Westmead Hospital.
At the Metabolic Disorder Clinic’s first appointment there seemed to be a breakthrough. The team of doctors believed Charlie was suffering from a rare disorder of his brain neurotransmitters, however, this joy quickly turned to sorrow when, after researching this condition, it was revealed that in most cases life expectancy is only 12 years. Subsequent testing thankfully confirmed this was not the case.
Charlie then saw Professor Russell Dale (a world leader in diagnosis of severe movement disorders in children) at the Movement Disorders Clinic. Yet again the answers Mary & Ben were searching for were not found. However, the team did give them some hope with a solution to treat the involuntary movements. They also believed that with some thorough research they may, over the next couple of years, find a diagnosis for his condition.
Currently, the solution to best control involuntary movements in children and adults is Deep Brain Stimulators. This involves awake brain surgery where electrodes are placed inside the brain at the points that influence such destructive movement patterns. This surgery cannot happen until a child is 4 years old and will be dependent on Charlie’s progress over the next 2-3 years. The family continues to have appointments with the Movement Disorder team and can only hope that the constant therapy, love and support will help Charlie become stronger and more able.
Unfortunately, the lack of a clear diagnosis means Charlie’s family have difficulty getting sufficient funding for equipment. Charlie is in urgent need of specialised equipment such as supportive seating, a standing frame and support suits/jackets. We appeal to your kind hearts to support this campaign by making a donation. Your contribution will go a long way in helping Charlie gain some independence and improve the quality of life for this adorable little boy.