Our son Théo was born on 21/05/2021. The delivery was spontaneous.
During his birth, Théo cried very little. My spouse spoke about it but the midwife did not take into account this remark. In our opinion, this was a 1st sign of hypotonia (weakness of the muscular tone).
Theo was born 3 1/2 weeks premature. The apgar test at 5 minutes was 10. He was placed in a heated bed; his birth weight was 2.320 kg.
We stayed in the hospital until 29/05/2021 for Theo to gain weight. At the very beginning, I had some difficulties with breastfeeding.
At the hospital, we were not informed at all about his hypotonia. After leaving the maternity ward, we had an appointment with our doctor who decided to do some additional tests because she noticed that Theo was not responding to certain stimuli. She made appointments for us to have an electroencephalogram (EEG) and an MRI. The EEG result showed no seizures and the MRI was normal.
On the evening of 06/27/2021, I noticed that Theo had some tremors, very brief jerks in his arms, which stopped as soon as I touched him. I thought of tremulations, quite frequent in the infants. I took videos because I was seeing the paediatrician the next day.
During my appointment with the paediatrician on the 28/06/2021, I showed her the videos and she immediately contacted the emergency room of the South Hospital of Rennes. In the emergency room, I learned that my son was having what we call convulsions without fever.
Our son will be hospitalized from 28/06 to 8/07. It was during this hospitalization that we were told about epilepsy and hypotonia. We had already heard about epilepsy for adults but never for children of Theo's age. As for hypotonia, this word was not part of our vocabulary. It was at this point that a battery of tests was performed. Blood tests were done as well as genetic analysis on Theo. To treat the epilepsy, the neuropediatricians prescribed an anti-epileptic.
While waiting for the results of the blood tests and to know if Theo did not have a metabolic disease, one must administer a certain number of vitamins to him. The EEG shows small peaks which indicate a cerebral activity not quite normal.
At the end of this first hospitalization, Theo was given an anticonvulsant and vitamins. Theo started physical therapy sessions, twice a week.
On 29/07/2021, Théo undergoes a lumbar puncture, which weakens him and awakens his disease. This lumbar puncture turns out to be unsuccessful, because it is only successful after the 3rd time and blood is mixed with the cerebrospinal fluid. At the end of this procedure, we notice that Theo has closed fists; he is apprehensive of anyone who touches him (even his parents).
On 5/08/2021, Theo had convulsions again and was re-hospitalized from 5/08 to 15/10/2021.
A series of EEG is done as well as another MRI which detects 3 abnormalities:
- Corpus callosum too thin
- White matter not very dense
- Diffuse brain composition (the 2 hemispheres are not distinct enough)
This corresponds during the EEG to a partly abnormal cerebral activity (visualization of small peaks).
To stop the convulsions, a new medication was put in place.
During this 2nd hospitalization, Théo had convulsions again following a nosocomial infection and a thrombosis. This made him very fragile and tired.
At the beginning of October, our son underwent a polygraphy: the results showed the necessity to have a NIV (non-invasive ventilation), during his nights. He is followed, during his nightly sleeps, by a scope, in order to record possible desaturations.
During this hospitalization, the geneticist came to see us to perform genetic tests on each of us since the tests on Theo were negative.
On Monday, October 11, 2021, we learned the verdict of our son's disease: an ultra-rare genetic disease, linked to the mutation of the WWOX variant 4 gene.
The medical profession informed us of the "lack of progress" in France concerning this disease: WOREE syndrome. In France, there are 10 known cases and about 80 in the world. When we learned about our son's extremely rare disease, we searched on the internet for discussion groups of families with the same pathology. We learned that there was a WWOX foundation in Australia that was starting research for a gene therapy.
Back at the apartment, we have progressively resumed physical therapy sessions (once a week) and psychomotricity sessions (once a week) to counteract the hypotonia. The physiotherapist practices mainly postural exercises (lying on the side, stomach).
In addition, the health professionals make him do visual exercises to help him follow objects, touch different textures... These exercises are reproduced at the apartment depending on Theo's availability.
Since April 2022, Theo no longer needs an NIV. The examinations that have been done no longer require an apparatus at night.
Theo is eating well. It is important to take regular breaks so that he does not swallow incorrectly and burp. For Théo, feeding is a moment of relaxation and pleasure (bottle and diversifications)
Music is one of the most appreciated activities: he is very attentive to sounds. His hearing is very developed.
Theo is sensitive to daylight: he takes pleasure every time we go outside (chirps, observes the leaves of the trees...)
Our son fights every day against his disease. The little things that Theo does (lifting his arms, turning his head...) are a victory for us, parents. We adapt to him and go at his pace.