Timothy and Tenille Koistinen are the proud parents of two-year-old twins Tate and Jobe. In March 2018, this Melbourne family's lives were turned upside down when their son Jobe was diagnosed with Sanfilippo Syndrome. At the tender age of two, Jobe's life, while only just beginning, will be cut short by Sanfilippo. Jobe's mother shares her hopes for further scientific breakthroughs and her bucket list for Jobe.
As a parent, all we hope to do is protect our children, fight for them and do everything in our power to rid them of pain. And we will fight. Jobe has proven to be a fighter since starting his journey of life at 29 weeks. He chose us to fight life with him. He continues to fill our hearts with bursting endless love everyday and has his fraternal twin brother Tate by his side protecting him every step. We need hope. Hope for progress in research and hope for access to clinical trials to bring us closer to a cure.
As preemie twins, we were always on the lookout from birth for any developmental delays or signs, and were heavily supported through the allied health system upon discharge of hospital. During Jobe’s first year of life he developed and hit all his milestones in line with his twin brother Tate. There were a few bumps along the way with some feeding concerns, physiotherapy and a bilateral hernia operation, although each challenge we faced, was celebrated with positive progress.
The next challenge was our routine hearing screens, which continued to prove inconsistent over numerous attempts. We felt this was starting to also impact his speech development so at 18 months of age, Jobe was referred to the ENT for grommets and removal of adenoids.
By the time he was two years old, Jobe’s fontanelle (soft spot on his head) had not closed. In addition, his head size had grown quickly in a short space of time. We were referred for and admitted for an MRI. The results determined enlarged spaces in Jobe’s brain and we were referred for a urine and blood test. On receipt of the pathology test, I Googled the clinical notes and tests and quite quickly found what we were testing for. Of course, I thought: "that’s worse case, it can't be us... it won’t be Jobe".
We read about all the MPS related diseases, and we were devastated in anticipation and saddened by what we were reading. From here we awaited the metabolic specialists to advise the results, and this would have had to of been the longest four-week wait of our lives.
Upon visiting the RCH in Melbourne for the results, we were met with the Metabolic Fellow, my Paediatrician and a Social Worker... with Jobe playing around at our feet, time stopped and we were given the devastating diagnosis confirming MPSIIIA (aka Sanfilippo Syndrome).
The impact this has had on our family and those loved ones around us has been one of utter devastation. We are grieving for our son's life, and yet he is still this sweet, thriving two-year-old boy, asymptomatic at this stage. We have continual feelings of disbelief and a feeling of complete helplessness that we cannot protect him, and cannot give him the future we had hoped for him.
Our whole community, and our "village" has come together to support us through this news. Everyone is reminded of what’s most important: to live in the moment, and not to sweat the small stuff.
Every single day the reality of Sanfilippo sneaks into our life to remind us of our helplessness, but it also reminds us to be grateful. We look forward to making memories and ticking off our bucket list for Jobe and Tate whilst we have the opportunity. We live to make memories, and we live for hope in research, trials and the ultimate hope for a cure.
We are hopeful for the advancement of clinical trials, and we are inspired by the Sanfilippo village and online communities linking families and networks across the globe sending the same message of hope and strength.
We hope Jobe will continue to be surrounded by a loving community, a supportive village of strength, understanding and compassion. Everyday we will strive to be the best version of ourselves, as we are fighting this journey for him, and already he has taught us so much and brought us so much love.
Please join Tenille, Timothy and Tate in raising research funds and bringing Hope for Jobe.