Axel was born in September 2001, he is now 21 years old.
Axel was a very cute baby. He took his bottles well and went to full-nigh sleep at 2 months.
He sat up after 6 months and walked at 13 months. His background is relatively classic compared to his sisters...
He was the happiness of all his family, his parents and his sisters Caroline and Emmanuelle.
Although, if you think about it, there were some surprising facts:
Axel slept a lot at the end of the morning, the kindergarten assistant (and friend since then) said "I had to wake him up to eat around noon". He also took very good naps!
And then when he had the little worries of this age, rhinopharyngitis, ear infections, angina, etc... he had so much trouble to recover that he slept even more.
But nothing to worry about... He was just a "fragile kid".
When he was about 9 months old, Axel fell from a bed, he cried a lot and then slept a long time.
I felt that something was strange…
Indeed, he vomited when he woke up. I went to the emergency room, on the advice of the paediatrician. Nothing was observed, he remained under surveillance during the night. And the next day, everything was fine.
We now know that this is frequent in Tango2 children following a physical and/or emotional shock.
Months went by, Axel always walked a little on his tiptoes, he ran more than he walked.
And then there were the weaknesses, the falls, the"hip cold" (also quite classic!).
During our medical visits, the paediatrician almost doubted everything I said because he often saw Axel at the end of the day when he was in the best shape.
As he got older, everything became more pronounced: fatigue, delayed language, a few slight moments of hypotonia that would pass after a nap.
A visit to a neurologist at the CHU in Angers followed, who concluded after a rather quick consultation that Axel needed to be stimulated. Frankly, we knew that it was not the solution but well...
We then agreed to do psychomotricity sessions.
Axel went to school when he was 3 years old (clean only at the urinary level).
But what a gap with the other children. He had so much trouble settling down and concentrating.
He was also tired at the end of the morning and could not walk like the others (especially for outings).
And then at age 4, he got sick. He had a lot of trouble to recover.
There were times when he was so tired that he fell asleep in our arms.
He also had a hard time eating and he started to have a deviation of his eyes (as if he couldn't turn them to the other side).
He was having trouble holding his head as well. We even thought he was dead for a few minutes!
When he rested, he would regain his strength for a few hours and then become exhausted again.
But his condition deteriorated, and we changed doctors.
This doctor immediately had an emergency PDS done, the results were alarming (very high CPK).
I took Axel to the Cholet emergency room, which immediately sent us to Angers.
Axel, having rested all day, was not too bad but we spent the night in the paediatric ward, on the neuro aisle.
In the morning, a doctor came to see us to tell us that Axel definitely had a metabolic disease, but he didn't know which one.
He needed to do some additional tests.
My first sentence was "ah I knew Axel had something", I was relieved...
And then everything followed: REDOX exams, biopsy, scanner...
This specialist concluded that Axel had a mitochondrial disease and called it mitochondrial cytopathy.
He gave a treatment, levocarnyl, decorenone... We were happy, Axel had medicine.
And this doctor was so understanding, finally...
Indeed, Axel got better and better. He didn't fully recovered but he was less tired.
He was also making great progress in language.
He was followed by a SESSAD. (French structure for healthcare).
Despite everything, we had to admit that Axel had to integrate an IME (French structure for healthcare).
And yes, it was a step to take...
What a relief for Axel: he liked it immediately. He had friends but above all it followed his rhythm.
And then we met the parents of the other children, very beautiful friendships were born, we understood each other.
And we laugh a lot when we celebrate all together because life goes on!
Axel is enjoying life so much, how can we not be happy for him? He would not understand ...
We return once a year to the CHU in Angers for a consultation with the paediatrician/geneticist.
He has now retired, and his intern has taken over so she konws Axel very well.
With the advances in medicine, she was able to tell us that she did not think Axel had a mitochondrial cytopathy.
We no longer had a diagnosis (we didn't need one!).
Axel continued to evolve well and we understood how he functioned (food, sleep, what to avoid ...).
But he had a more tired period and it's only at this moment that we saw the thyroid dysfunction.
A treatment settled it very quickly.
What a cataclysm for his sisters and the family.
And for us, how difficult it is to be concentrated on our other children while we have in mind, a visceral fear of losing our son... Thanks to them for being at our side.
We hope that their lives will be beautiful and sweet...
3 years ago, Axel had his first epileptic seizure, isolated and not frank (more like a fainting spell but without any memory).
Then a second one a few months later and a third generalized one.
Hospitalization, EEEG etc...
Treatment put in place.
And no, this shitty disease never leaves us alone...
But we deal with it, and everything goes back to normal.
In 2018, our paediatrician/geneticist tells us that there is finally a diagnosis: Tango2.
We go to Necker! (French children hospital)
Now we know and most importantly, we discovered this No Myolysis association.
It took me, his mother, some time to get involved in this discovery and to invest myself a little because it stirs up so many things...
But now I know that it is a precious help and I thank all the parents ....