Jule just turned six years old. She was diagnosed with SMARD in 2016 at the age of 1.5. From that moment on, our life changed fundamentally. It was a traumatic day and it still seems surreal how our until then perfect sweet and happy baby was suddenly the victim of some super rare disease that we had never even heard of. And even less did we know how to get a grip on it in the beginning.
At a very early stage of a few months of age, we recognized abnormalities in Jule’s motor development. Jule always turned her feet inwards. When she wanted to start walking at the age of 14 months, her feet were totally unstable and she rolled up over the back of her foot. After various ergotherapy sessions, the pediatrician sent us to a pediatric neurologist who performed a detailed gene analysis.
After three dreadfully long months of waiting, Jule was diagnosed with the nerve disease SMARD. Despite this terrible diagnosis, Jule is still lucky as she does not need to be ventilated constantly yet, unlike many other patients. Nevertheless, Jule lacks muscle strength in her whole body: her diaphragm is partially paralyzed, she can no longer stand freely - not even with support. She was able to walk before and lost so much strength over the time. She now uses a wheelchair. Her arms, hands, shoulders, back, everything is affected and makes her life harder for her.
Our everyday life is characterized by doctor's appointments and therapies. We are constantly trying out new healing options and therapies. We ask ourselves over and over: are we not doing enough? Are we putting too much stress on her? But no one is really able to help us because SMARD is so rare.
All this Jule faces with the most resilient, persistent and patient attitude. We are simply amazed by her every day. She beams with happiness in situations any of us would just give in and be struggling with. She finds so much happiness in all she does despite the hurdles her body is putting her up with. And of course she does notice her struggles. But she still finds the strength to keep on fighting to get better and even comforts others.
Jule is looking forward to becoming a first grader very much. She is incredibly eager to learn new things and already plans her future career. Physician, Scientist, Painter, Singer… in her mind the world is at her feet. We would so much love to give her the opportunity to find out what her future will eventually look like...
When we found out about the possibility of a study for gene therapy for exactly the genetic defect that affects Jule, we were overly excited to say the least. We had so much and so long been looking for this and hoping so long for an opportunity to get engaged and start getting these kids help and hope. So in June 2019 we joined the smashSMARD movement, founded the German nonprofit and have tried to spread awareness and fundraise money for this lifesaving cause ever since.
Because that's what this is about: Saving lives! Hopefully soon and for all generations to come. So no one needs to hear this diagnosis and be as lost as we were, but will have a treatment at hand and a future to plan.
All this can only be possible with the help of gene therapy and all the people helping to make it a reality. So Jule and all the other kids can keep on dreaming and someday maybe make their dreams come true.