Meet RIAN -$30000 raised

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7 year old Rian was born with AADC deficiency (Aromatic l-amino acid decarboxylase (AADC) deficiency)- a condition so rare that she is the first and only child at Sick Kids ever seen with her disease. Often known as juvenile Parkinson’s, AADC deficiency is a severe condition where children have no motor function. They are unable to move, speak, or even eat, relying on medical intervention to survive. 

For the first 5 years of Rian’s life, that was Rian’s reality. She was stuck at the newborn stage of physical development, no head control, no purposeful movement, fists still clenched and completely dependent on her family for 24/7 care. Rian was bed ridden and tube fed - all while having the cognitive awareness of what was going on. It was truly a torturous existence for her. It was extremely heartbreaking for her family to helplessly watch her suffer and very difficult for them to manage her fragile condition. They were told that there was hope in an upcoming procedure called “gene therapy” but it would be years until it was FDA approved - and time was not on their side.

LONG (but miraculous) story short, in September 2019, just before her 5th birthday, Rian received gene therapy in Europe. Although the treatment was still in the trial stage and not yet FDA approved, her parents knew that this was her ONLY shot at survival and hope for her future. Rian and her family flew to Warsaw, Poland where she underwent this 8.5 hour brain surgery called “gene therapy”. Essentially, doctors re-created the gene she was born deficient in and injected it into her brain. The surgery literally re-wrote her DNA to correct the disease causing problem (amazing, right?). 

Soon after, Rian started gaining skills that for YEARS were just a far off dream. 2 Months after surgery she started holding her head up on her own, 2 months after that, she started reaching for things and learning to roll. Then came sitting independently, playing with toys and the ability to chew and eat food all on her own! Now, approx 2.5 years after gene therapy, Rian is learning to stand independently and has even taken a few steps on her own! It is as if she was re-born. The gains she has made are nothing short of miraculous - she learns more and gets stronger with every passing month. 

Although the quality of her life has improved dramatically, she still lives with many disabilities. Rian is playing an intense game of “catch up” and learning new skills is extremely hard work for her and her family. They are constantly working on fine and gross motor, communication, cognitive and behavioural skills- essentially every aspect of her development. Rian’s mom often describes the experience of gene therapy not as their “happy ending” but instead, their “hopeful beginning”. 

Not only is she learning everything for the first time, she is up against things like developmental delay, muscle wasting, hip dysplasia and bone density loss from her years of being completely immobile. Rian continues to be non verbal, however her family knows that with time and the proper therapy, this too will change. Rian’s post-operative success greatly relies on access to multiple therapies and her family is always working with her to support her to get to the next step. It is said that the first 5 years after gene therapy are the most formative and the critical time in which the child needs to acquire new skills. As such, Rian’s family feel the pressure and have her involved in many supports including physio, occupational and speech therapies. She also attends a part time specialized school program that gives her therapy and the one-on-one support she needs. 

The government only funds 2 hours of therapy per week (and even that isn’t guaranteed), which Rian’s mom says is “like putting a band-aid on a shark bite” because Rian needs SO much more support. This leaves the rest of these therapies / programs to be paid out of pocket by her parents. It is a lot for them to take on.  Rian’s parents have fought tirelessly for her. Their dedication to her continued growth is non stop and they sacrifice constantly to try their best to give her what she needs to thrive. 

What Rian and her family have been through is truly unheard of. Rian’s family is forever grateful for Gene therapy as they know that children who live with such rare, debilitating conditions don’t get the chance to “get better”. This Miracle Golf day is such a wonderful opportunity for us to  be a part of Rian and her family's story, to be a contributing factor to her success.