Hermance
A Normal Beginning
When Hermance was young, she was just like any other child. She was quite affectionate and always wanted big hugs and kisses from her parents. Her mother exclaims that she was the cutest baby girl on earth. She was a very lively, lovely, healthy, and curious little girl. From a very young age, Hermance tried to charm everyone she met, and she did just that. She would smile at every stranger and was always laughing. She was as happy and healthy as you would expect any baby to be. She particularly enjoyed horseback riding and singing. She especially loved to sing along to the Sound of Music, her favourite movie. Hermance was as normal as any kid her age.
Their World Turned Upside Down
Around the age of 4 or 5 years old, Hermance started to show abnormalities. They began as small everyday issues, such as not being able to tie her shoelaces or wash and brush her hair. Then she started to become clumsy and would bump into furniture. Her parents thought there might be something wrong with her eyesight and brought her to an eye doctor. Hermance ended up needing glasses, but she was still noticeably off balance. Additionally, Hermance seemed to prefer to spend time with adults and did not seem too keen on playing with children her age. Her parents' concerns began to build and they brought her to various doctors in search of answers. They were initially told it might be dyspraxia due to her clumsiness, but that was quickly replaced with the proposed diagnosis of autism. They did not accept this answer as Hermance was a very talkative and social child. She loved making connections with other people and this would be a direct contradiction of how autism presents. Her parents knew it was something else, they just did not know what.
It took six years for Hermance and her parents to finally get an adequate answer. Hermance sat between her parents as two doctors, preparing to give them life-altering news, stood in front of them. Hermance’s mother remembers feeling very anxious and worried. One of the doctors spoke directly to Hermance and told her that her disease was called aspartylglucosaminuria (AGU). She said there were around 160 reported cases in Finland, and 30 more cases around the world. It was shocking to find out Hermance was the only reported case in all of France. Her parents remember telling themselves not to panic, that this was just a horrible nightmare; an unreal nightmare, they could open their eyes and it would be over. This was a nightmare, but unfortunately, it was a real-life nightmare.
Devastation Turned into Motivation
Hermance was around ten years old and was able to understand how serious this was, but her mother remembers noticing that Hermance was unusually quiet and asked that Hermance join her grandma outside, so they could continue in private. They cried when Hermance left the room and then listened to the doctors. They explained what Hermance's fate would be as the disease progressed. Hermance would progressively lose her intellectual abilities, her speech capacities, her physical capabilities, and, at a certain stage, she would lose her ability to walk and end up in a wheelchair. This would be overwhelming for any parent to hear, and Hermance's parents remember feeling angry and helpless as a deep sense of injustice settled in. They finally uttered their first question, "Was there a therapy?". They were given an inconclusive answer as the doctors frankly did not know enough. In general, there was such poor literature on AGU that the doctors were not sure where to go from here. This was the worst 45 minutes of their lives. The devastation was overwhelming, and Hermance’s parents remember walking out of the hospital feeling like zombies, completely lost in shock.
In the days following the announcement of their child’s health they felt hopeless and isolated. Until, as Hermance's mother remembers, early one morning her little girl crawled into their bed and looked straight into her mother's eyes. She said, “Mummy, I got something very important to say to you, even if I die first, you must always remember how much I love you. I will always love you.” At that very moment, Hermance’s family declared war against AGU. A war they were prepared to dedicate their lives to, until answers were found. Two months later, they went to Finland in search of those answers and met the Taravella family. Hermance's mother remembers Julia Taravella adamantly telling her, “we are going to make it, we are going to save our kids, believe me, trust me.” That was the beginning of the fight, the most important fight of their lives, to save their children.