My name is Simon Bond. I’m now 23 years old. My story only started to unravel as a teenager. In 2008, when I was 15 years old, I had a major spinal operation for scoliosis…this lead to the discovery of my underlying problem & so in retrospect, I came to understand why I felt so different growing up. Because I have an attenuated ‘mild’ version of my rare disease, to my family & those around me all seemed ‘normal’.
I suffered a lot from ear, nose & throat infections which is normal growing up however my respiratory infections seldom passed without complications. I had pneumonia more than once, grommets for my ears & an adenoidectomy. Another minor operation for a variocele revealed an abnormal aortic valve. I struggled with tummy aches, a persistent post-nasal drip & nausea often in the morning which lead to an increasing resistance to going to school. I couldn’t move as easily as other kids, even simple rolling movements, swinging along monkey bars, using rollerblades & skateboarding. I couldn’t do handstands or cartwheels. My ball skills have always been good & I did really well in cricket but only as a bowler. I never wanted to bat. This all came to be understood when I was diagnosed, the structure of my arms, stiffened joints, wrists & hands restricted my abilities.
Prior to a big back surgery, I checked in with my psychiatrist for support. She alerted my mother after the appointment to the noticeable changes she’d seen in my facial features & was concerned that I had a possible rare disease which can also affect the antlanto-occipital joint. Her concern was that should this be the case & the surgeons didn’t know perhaps severe damage could be caused, when being moved under anaesthetic, on the operating table. So prior to my operation, we consulted with a Genetic Pediatrician & he too was concerned. He picked up the heart valve abnormality & the structure of my hands which are part of this syndrome. I was sent for x-rays, a ct scan & blood tests. The joint at the top of my spine was normal so the operation went ahead. The x-rays clearly showed the abnormal structure of my hands. The blood tests gave some indication of an abnormality however in order to pinpoint exactly the genetic disorder, my bloods needed to be sent overseas. Even a Professor who visited me in hospital, seeing how I presented physically, considered what was potentially possible as highly unlikely.
My tests were done in the U.K. at Central Manchester University Hospitals & the diagnosis came through as #Mucopolysaccharidosis Type II (Hunter’s Syndrome, Attenuated Phenotype) which means I still have cognitive function (my brain is not affected) even if the illness is slowly progressive. The result was clear however the understanding & treating of this illness in SA is minimal. My father, as a doctor, researched what was possible. I was fortunate to be able to consult with Professor Wraith, in Manchester, in 2010 to understand better my diagnosis & treatment. Prof. Wraith put us in touch with his colleague Prof. Scarpa in Padova, Italy, as I also have Italian citizenship and so began the process of moving to Italy. My time in Italy began in 2012 & I remember clearly my first infusion of Elaprase.
My initial stay of 9 months turned into a two & half year medical gap year!! & still there were no signs of the drug being registered & available in SA. I was able, on returning to SA in June 2014, to do a barman’s course & work part-time at events. My energy levels were still good & my body felt comfortable as if I was still on the medicine. I started my 2 year Coaching Course at ETA in 2015 however over time I started to feel the lack of the enzyme-replacement therapy & symptoms I never understood when I was younger, began to re- surface. I now know what it feels like to be on the medicine & off the medicine, from a more adult perspective.
I feel sluggish & I get tired very quickly, my energy levels are low so I have to manage my days carefully. I need to be disciplined in my eating as my stomach & gut are easily affected. My joints have stiffened generally & I wear splints at night to manage carpel tunnel. My walking is definitely heavier & I feel my old drop foot injury more. My facial features have also thickened. Without maintenance on #Elaprase the degenerative nature of the disorder is coming through & the options in SA are still not in sight. I was starting to do part-time coaching work as I finished my studies & I didn’t want to go back to Italy. My desperate situation led me to contact Rare Diseases SA on Facebook & Kelly du Plessis was in touch with me immediately!
So now I start a new journey with RareDiseaseSA, my SA specialists & my new Pediatrician. My motivation for going on treatment is underway. My vision with Rare Diseases SA is to be an ambassador for MPSII patients, their parents & people in general. A child born with Hunter’s Disease has cognitive dysfunction of the brain & cannot communicate. The medicine doesn’t get through the brain barrier. Because of my attenuated version I can share my story & communicate the vital need for treatment. I’m experiencing the degenerative side effects of not being on treatment & I understand what parents are up against not understanding the impact of the illness from the child’s perspective.