OUR STORIES

Arsène is a little boy of 9 years old. He has a 6 year old brother, Eugene.

They love each other, but like many brothers, they love to fight!

 

Arsène was born in Cannes in September 2012.

He was a very easy-going baby, in great shape, always smiling, loving life. With him, it was very easy to become parents.

As he approached 18 months, he started to show strange and unexplained symptoms: muscular weakness, loss of balance (he was leaning, in the shape of a half-moon, sometimes on his left, sometimes on his right), had some language problems, he sometimes complained about his legs which made him suffer...

We obviously met all possible doctors and specialists (paediatrician, orthopaedist, rheumatologist, geneticist, ENT specialist, cardiologist, geneticist, neuro-paediatrician).

 

Arsène underwent numerous examinations (MRI, X-rays, muscle biopsy, lumbar puncture, ECG, EEG, multiple blood tests and genetic tests...).

For more than 4 years, all the results were normal, which in a way, was rather reassuring.

However, after an episode of fever, or after strong emotions, Arsène systematically presented signs of weakness and muscular pains as well as loss of balance.
He would get tired very quickly when walking, and it was therefore not easy to take him for a walk.

We always had to stay close to the car, to make sure we could get back if his legs were too weak to walk and if we had to carry him.

In addition to this tiredness, Arsène also has a language problem, has difficulty managing his emotions, has great difficulty staying focused and got tired very quickly.
Sometimes, after a short time of rest or a small snack, he would go back to his normal state.

We have more or less learned to live with these inconveniences, with the secret hope that one day, everything would return to normal, that it was nothing serious... but deep down, we felt that something was wrong.

 

When he was 5 years old, he caught a bad cold, as he often does. The doctor gave us the usual treatment in this case, but Arsène remained a little amorphous for almost a week during which he ate very little.

So we took him to the hospital for some tests, and he was admitted for a few days of observation, the time to rehydrate him and get him back on his feet. He was diagnosed with influenza A.

 

After a few days, the doctors detected signs of severe rhabdomyolysis: his CPK rose to 136,000 (the norm is 200), and he had a prolonged QT (heart rhythm disorder).
There is, to this day, no treatment against rhabdomyolysis; doctors can only act to try to limit a little its consequences on the organism...

 

On Christmas Eve, Arsène was transferred in emergency from the local hospital to the Timone, in Marseille, where the reference centre for hereditary and metabolic diseases is located, 2 hours away from our home.
Arsène spent the first day in the intensive care unit.
It was there that we heard about Tango2 for the first time: genetic mutation, no treatment, less than 50 patients identified in the world, no adults identified, ... BANG! our world was collapsing... our baby's life was in danger, and we were totally powerless.

 

It was so hard!

 

 

We had been waiting for a diagnosis for 4 years, and neither we nor the doctors had imagined such a serious pathology (it took another year to receive the results of the genetic tests that confirmed the diagnosis).
Despite this shock, we had to fight.
We had to fight for Arsène, we had to fight for his brother, Eugène, who allowed us to stay strong thanks to his smile and his hugs.
We had to be there for them, to keep smiling for them, to play and laugh with them when we just wanted to cry.
We had to be by Arsène's side to support him in this fight for life, despite the shock and the sorrow.

Once the CPK level started to decrease, the doctors decided to administer cortisone to Arsène, to mitigate the impact of the rhabdomyolysis.
But just before he received his treatment, the first pimples of chickenpox appeared!
(chickenpox is the only disease for which cortisone is contraindicated...). He was covered with pimples and didn't have much else to do but scratch...


A naso-gastric tube was placed to give him food supplements (he was unable to stand on his own).

Fortunately, Arsène is a fighter, a warrior, and he recovered relatively quickly.

10 days after his release from intensive care, he was allowed to go out and get some fresh and cold January air around the hospital.

Having lost a large part of his skeletal muscles due to rhabdomyolysis, he had to be moved in a wheelchair.

The doctors told us that it would probably be weeks, even months before Arsène could walk again... (each day, a new blow!).

 

But 2 days later, he was trying to walk in the corridors, to the great surprise of the doctors.
He didn't want to be helped, but he was so weak that he almost fell with every step.
He was so determined!

 

 

He gave us a lot of life lessons... He would make jokes and take advantage of the situation to have us do what he wanted, especially to watch cartoons!

After 1 month of hospitalization, we were finally able to go home. With Arsène, with Eugène, and with Tango2...

It has been almost 3 years now and Arsène has not had another rhabdomyolysis.

The medical teams have set up a very strict emergency protocol : at the slightest fever, at the slightest vomiting, or following any abnormal fatigue, we immediately go to the local hospital to measure the CPK and to control his heart rhythm.
If the results are good, depending on the context and his general condition, either he stays under observation with an IV to hydrate him, or we go home.
If the analyses show anything suspicious, we are immediately transferred to Hospital La Timone, because it is there that the doctors know best the specificities of Tango2 in our region.

6 months after his rhabdomyolysis, Arsène had recovered quite well, he was in great shape, and we decided to make a short walk in the mountains.

The children were delighted at the idea of spending the night in a refuge!

Although he didn't walk much, Arsène was still tired 1 week after our escapade, so we took him to the hospital according to the emergency protocol. All the tests were good, but the doctors preferred to keep him a few days in observation and took the opportunity to put him on an IV to hydrate him. He was able to rest, but during the night, his heartbeat was a bit slow, so we were transferred by helicopter to La Timone, in Marseille (what a first flight!).
Fortunately, the heart and everything else was fine, and we were able to go home after 5 days during which Arsène was running around like a lion in a cage! We were in July, it was hot, he had spent a lot of time in the pool, and he was maybe not sleeping enough because of the shorter nights...

The following year, despite the vaccination, Arsène caught again the A flu. 
So he was hospitalized (closely monitored and hydrated), but this time, he was able to go home after only 1 week, as soon as the fever was down and he was eating enough.


Today, Arsène is fine!

He goes to school, in the primary school, in a ULIS class. It is not easy every day, but he is progressing at his own pace.

We are very grateful for the work done by all the people who surround him, with so much love, and for their daily support : his teacher Nathalie, his AVS (school life assistants), the staff of the SESSAD, the care centre which welcomes him 2 half-days a week (Cathy, his specialized educator, his speech therapist, his psychometrician, as well as all the rest of the team) and all the doctors.

He sometimes gives the impression of being a bit in his own world, but he is happy and brings us so much love... he smiles, most of the time, he laughs, a lot, even if he sometimes has quite a temper! (he doesn't listen very often to what we tell him!). He is very clever!

He is full of life, full of energy (even when his illness puts him flat and he can hardly walk: he still runs!), he loves swimming (he could spend the whole day in the water), he takes circus lessons, he plays soccer and rugby with his brother, he likes playing with Lego, looking at books, coloring, dressing up as a superhero, going for a walk in the mountains and spending time with his family.

But his favourite thing to do is ride his bike, just like his dad. He looks forward to Fridays when he can enjoy the "gentlemen who fall off their bikes" (Friday fails, a video that shows the most beautiful mountain bike falls of the week).

Tango2 is now part of our lives and we don't feel that this disease is an injustice. It is just there, that's how it is!

It is certainly not the life we had dreamed of, but despite everything, we chose to be happy!

We know that we are lucky that Arsène is still with us, and we are very grateful to be so well surrounded by all these wonderful people who help us to keep the necessary energy to continue to fight and never give up.

Our Tango2 family is also a great support.

We share tips on how to make our children's lives better (ideas for activities, therapies, nutrition, etc.) and how to take better care of them in their special journey.

Certainly, the proximity with all these children affected by Tango2 confronts us every day with the gravity of this disease.

It is so hard to see children leave this world so early...

Today, more than 100 patients are diagnosed, including adults! So many reasons to hope!

And we have found people who understand us, who inspire us.

Many families are mobilized in the fight against the disease through different associations; and
we also decided to get involved because we think it is our duty, as parents, to contribute for
our children, at our level, to accelerate research and to offer them a better life (also because
we are lucky enough to have the energy to do so!).

ARSENE