Zero expectations and a lotta love – one family’s journey in caring for an extraordinary child

Isabel was diagnosed with an ultra-rare neurological disease called, Trip12 at the age of 3 years old. Now, 8 years later her parents, Nina and David, have an experience and perspective they never could have imagined at the start of their daughter’s life.

‘She missed every milestone. No reaction to people or voices at 4 months. No words in the first year. She never crawled and didn’t start walking until 23 months and this was after extensive therapy’, recalls the mother, Nina.

Her father, David, being the optimistic one in the family, called her ‘luie botten’ (which means ‘lazy bones’ in French), thinking it was all just a phase or part of her personality.

Despite being discounted by many, her mother continued to push hard for therapies and answers as to why her daughter was not progressing as normal.

‘A worker at the creche that had 30 years of experience continuously told me that I needed to relax and that I had too high of expectations for my child. But I knew something was different.’

After two brain scans, they were told for certain that their child would not develop like a neurotypical child. ‘So that confirms my intuition. Nonetheless, it was really heartbreaking to hear,’ remembers Nina.

When a DNA test revealed that Isabel had no known serious and more well-known conditions, genetic testing was then conducted, where she had her exome sequenced. At the age of almost 3, testing confirmed that Isabel had a rare neurological disease, called, Trip12. With only 20 known cases in the world and 2 research papers the genealogist said, ‘Sorry, but we can’t help you more than this. This is all we know.’ Recalls the parents.

However, the diagnosis was only just the beginning says Nina:

‘When she couldn’t go to a real school that’s really when the journey began. This is where the isolation starts. I would go to visit these special schools and come home and just be so sad. Every time I went, I was broken, and it would take me days to recover. To see kids wearing helmets, and some were half naked beating their heads against the wall… We couldn’t imagine any of these places for our Isabel …’

Isabel has now been at that same school for 3 years and is stable, however huge visible progress isn’t something they’re really witnessing.

‘When I look at her now, I don’t think she has made huge development progress at all, but I do believe she is very happy’, says her mother with a smile.

Like so many parents of children with special needs, they too know that perspective and acceptance of their child’s difference is something that has taken time.

‘We are less superficial people in every way because of Isabel. Before this we valued things differently. Now with her, we treasure small things. It puts a lense on what’s truly important. It’s so easy to be proud when your child is a neurotypical and very good at this or that, but I feel just as proud and perhaps prouder even though she isn’t speaking a word. And that is the best thing that I can experience as a human being. This kind of powerful love that you have for someone that is not connected to perfection and achievements’, Nina beams.

When asked about their aspirations for their daughter’s unpredictable future their answer is proof that love really is boundless and blind when it comes to your child.

‘It is not that we have resigned to our fate, or we feel completely hopeless. What we experience daily is the bigger opportunity and quieter strength to say, we are in full acceptance with Isabel as she is. We still strive to live our life to the fullest, happily and openly, together – free of expectations.’