My son Joel has recently been diagnosed with Bardet-Biedl Syndrome (BBS). Due to his medical issues, developmental delays, autism and severe anxiety, vestibular and sensory input therapy is essential for him to keep progressing. I am wanting to purchase him an adult sized swing frame and 2 different swing attachments to have a home for daily therapy. This type of assistance is unfortunately not covered by NDIS. Continue reading if you wish to hear Joel’s story.
It's been quite the journey with Joel, at 4.5 years old we noticed some medical issues that just didn't feel right. Prior to this he had had difficulty meeting milestones, ENT issues, didn't walk till 20 months, delayed speech and we suspected a mild developmental disorder.
We sort answers and saw a few specialist during the next year. They told us he had Nystagmus, an eye condition that was caused by the nerve function between his brain and eyes being disrupted. He also had an unsteady gait, mild muscle weakness, poor fine and gross motor skills and some physical features seen in genetic disorders. But there wasn't an obvious disease or disorder that described his symptoms and there wasn't another reason for this to happen to him. So alongside the specialists we embarked on a long journey to find the underlying cause. That began at age 6.
Joel’s Neurologist was the drive behind the search for answers. The first appointment with her, she arranged an emergency MRI for the following morning at Westmead Childrens hospital, a Saturday and told me to pack a bag for Joel and myself "just in case". When I asked her what she thought she might find, she was honest and said "a space occupying legion". My heart skipped a few beats. Thankfully the following day the MRI was clear and we went home.
Over the next few years we regularly saw a range of different specialists and had test after test performed. Joel endured 3 spinal fluid tests, several MRI's, nuclear medicine tests, electrophysiology, an invasive liver, skin and muscle biopsy that left a 10 cm scar on his abdomen and the amount of blood this boy has had taken would excite Count Dracula.
During that time, we also saw a deterioration of Joel’s physical and mental health. He developed a tremor in his hands, became increasingly unsteady, developed a motor tic (head tilt and sway) and his hearing was impaired from Central Auditory Processing Disorder. His mental health deteriorated rapidly around age 9 and he was having frequent explosive meltdowns that were both scary and dangerous. His anxiety levels were through the roof and he stopped being able to attend school or go anywhere without me being with him. He wouldn't leave my side. It was so severe that unless one, sometimes two of his siblings were in a room with him, he wouldn't cope if I left the room to go to the bathroom, cook dinner or hang out washing. On several occasions we had to call an ambulance to help us restrain him and calm him down, a few times they arrived with the police as back up. He ended up in the ER isolated psych room at Westmead Children’s 5 times. We were advised to start him on medication, so we did. It helped but it wasn't a fix all. So we added in therapy, to start it was only psychology, which wasn't overly helpful. Then we added OT, physio and hydrotherapy as well as changing psychologist and the difference was astounding! Prior to this he had lost so much independence, it was heart breaking.
In 2016, Joel had just turned 12, we were finally given the go ahead to do some in depth genetic testing. We met with a geneticist and started discussing Joel from the very beginning of his life. Along with all the symptoms above, Dr Ma noted many facial features, tapered fingers, deformed (curled under) toes and a few other things we had not noted previously. He wondered if a few rarer genetic disorders might fit Joel's presentation and requested permission to start genetic testing. Genetic testing can only be done through the hospital system if all else has failed to reveal answers to a moderate to severe medical history. Although Joel had previously had some basic gene and chromosome tests done, this round was to be broadened to include some of the rarer syndromes that include autism as a symptom. The first round came back with a few small clues, however they didn't pan out as myself and 2 of Joel's siblings had the same gene deviation without symptoms. We were then enrolled in a study that explored whole genome sequencing, a few months later this study was ceased and we were back to the drawing board. Dr Ma, called me and asked for my permission to launch further testing, so glad they had our DNA samples in storage!! He said that in recent months new tests had been approved for genetics that looked at a larger panel of genes and we qualified for those tests. We waited, then the call came, I was shopping in Woolworths, for the first time by myself in years, it was Dr Ma and he had found some possible answers. He told me that he suspected Joel could have Bardet-Bield Syndrome (BBS), in his words, a super rare disorder that a lot of Joel’s symptoms fit. To confirm he had to run my and Joel's dads DNA panel to see if the same mutations were on the same gene in us. This would confirm the diagnosis. The likely hood of 2 people meeting and having children together who are both carriers on the same gene for BBS is a 1:3.5million chance.
Then there is a 1:4 chance of our children inheriting both faulty genes and having BBS, a 1:2 chance of inheriting one faulty gene and one healthy one and being a carrier. Six weeks later, Dr Ma emailed me and confirmed that BBS is the likely diagnosis as the same two defects were detected in our DNA. It took 7 long difficult years of searching to find this answer.
BBS is a progressive disorder that can shorten the lifespan of patients, see a description here - https://rarediseases.info.nih.gov/diseases/6866/bardet-biedl-syndrome
Therapy has been our saving grace. He is starting to gain back some of that independence he lost, pushing himself little by little out of his comfort zone and achieving small personal goals. Such as going shopping with a support worker or his Aunt without having me with him and his first sleep over at his Aunts house recently. The first one in over 3 years! He's also about to start back at school, which has been hit and miss for the part few years. He would only be able to attend 3 or so hours a week with me as a support. Prior to the last 2 months, he had been with me 24/7 for almost 3 years and YES I MEAN LITERALLY 24/7. Now I'm blessed to have 2 maybe 3 hours to myself once a week while he goes out with a support worker or his Aunt.
Therapy is an essential part of Joel's life and always will be, in some form or another. To have therapy swings at home, will help with physiotherapy, occupational therapy for vestibular and sensory input.
Thank you for reading this compacted description of Joel's journey so far, if you have any questions please ask, I'll do my best to answer them. If you can donate, thank you from the bottom of our hearts!
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