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Jule´s story

Jule Todsen just turned five years old. Since birth, she has been suffering from SMARD, a very rare, life-threatening genetic defect that paralyses her muscles. Recently, a new research study from the USA shows a cure could be possible and therefore brings a lot of hope to her and her family.

 

Jule was diagnosed with SMARD in 2016. From that moment on, the life of the Todsen family changed fundamentally.  At a very early stage of a few months of age, her parents recognised 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." says mother Marieke Todsen.

After three long months of waiting, Jule was diagnosed with nerve disease SMARD. "Despite this terrible diagnosis, Jule is still lucky as she does not need to be ventilated artificially yet, unlike many other patients. Nevertheless, Jule lacks muscle strength throughout her whole body: her diaphragm is partially paralyzed, she finds it difficult to stand freely without support, also she stumbles and falls constantly. "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."

SMARD is extremely rare. There are only 60 living patients worldwide that have been diagnosed with SMARD. Currently, there is no cure or treatment. At this stage, treatment is limited to addressing symptoms.

As Jules' genetic defect is so extremely rare (about 100 documented cases worldwide, of which only 60 patients are currently alive), this proposed study feels like an absolute miracle.

 

It is now or never. This is it.  There may not be any other study. But, the progress and implementation of this study primarily depends on financial support. Given the small number of potential patients, there is little focus put on it from pharma companies. This study will only happen if this call for donations and that of other private initiatives succeed. Money is currently the biggest obstacle between Jule and other SMARD-childrens’ ability to continue  breathing.

 

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