We are young parents of two beautiful girls, Romane born in January 2012 and Elia born in December 2014. Everything seemed destining these children to a normal life...
Unfortunately, the fate decided otherwise for the eldest!
For us Romane was simply a child in the moonlight who did not like to walk or talk much. She sometimes gave the impression of discharging herself like a battery or the flame of a candle which weakens then relights...
Around 2 and a half years old, she started to have loss of balance on her left side as well as small discomforts accentuating a difficulty in articulating and staring...
These muscular weaknesses were associated with a pale skin and a rapid fatigability when walking.
She sometimes limped, fell from a bench because she could no longer sit up, or even started crawling like a baby.
These signs were episodic but still showed an abnormal fatigue in a child of this age.
At the dawn of her 4th birthday, Romane caught her first infection with high fever. Treated with antibiotics, she still couldn't get back well and every day she became more and more amorphous... One morning, we noticed that her urine was dark, brown/black with traces of blood inside. The paediatrician immediately sent us to do some tests. Unfortunately, the results were similar to those of a Duchenne myopathy.
We then discovered many things:
Romane was suffering from rhabdomyolysis, in other words it means a destruction of her muscles. The dark colour of the pee corresponds to the passage of myoglobin in the urine.
This word "Myolysis", unknown until now, became part of our life and never left it...
Following her emergency hospitalization, we were told that she had a metabolic disease, probably genetic and rare.
But that was not the main point of the moment. We then understood that there was no treatment for rhabdomyolysis, that we could only minimize its consequences and hope that they would be the least serious possible.
Myolysis is not predictable, it appears following an episode of metabolic stress and acts like a flare-up, when it is discovered it is already there!
It appears suddenly with a time lag of several hours between clinical signs and blood results.
It is then "a horrible climb up of a peak which summit no one knows."
We have no choice but to wait for the crisis to pass and then gradually come down.
The recovery remains very random and depends on the importance of the trauma undergone.
Rhabdomyolysis is described in several rare and often very serious diseases.
Children all over the world are concerned. Some have not been lucky enough to survive.
Romane will slowly recover from this crisis but fate made that she found herself in the same state. One year later, to the day...
Only this time, the myolysis was extremely massive and required to put her in intensive care for 2 months.
She was put in an artificial coma for 10 days because her condition was so worrying that it was imperative to put her body to rest. It was necessary to save her vital functions, especially her heart, and above all to stop her unbearable suffering.
In the end, mechanical cardiac assistance was not necessary, but we were not far from it, what a fear! Then the drifting boat finally came back to port.
How difficult it is to see your child quadriplegic, suffering and not understanding what is
happening to her!
When we are asked to explain what she has had, I compare it to a flu multiplied by 50.
We were then told that it can happen, that in cases of high rhabdomyolysis, recovery is incomplete and leaves after-effects... It is possible that she will not walk again because of muscle necrosis.
The recovery was long, very painful but...
Today, Romane has recovered in a spectacular way, everything is not perfect, but she is
courageous, a fighter and devours life. Her disease Tango2 is recognized since 2016, it is an extremely rare genetic anomaly (few
known cases in France), in our misfortune we can be happy to know what she has and have hope in the future ... for now we can only treat the symptoms.
The uncertainty is with us every day with the fear of a new Myolysis! It is not possible that she will go through all this again, that her life will be in danger, that she will be paralysed again.
We could no longer sit back and wait:
We have since understood that research is progressing, that important advances are being made and that it is our duty to participate in this teamwork.
Until now, there was no association to inform, understand and bring together families to fight against Myolysis.
For research to progress, for the people affected and their families to feel supported, we must make ourselves heard and pass on the message.
The more numerous we are, the stronger we will be!
Fight alongside us and say: « NO MYOLYSE ! »
"It is better to light a candle than to curse the darkness"