Our son Raphael : case, and search for a relevant medical team

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Raphael is a boy aged 4 ½ years, our first and only child to date. We are French, so please do excuse my poor use of english medical terms.

Raphael shown difficulties for standing up and started to walk late, around 18 months. In apparence, he has troubles to fold his ankles and lacks power in his leg muscles. He also has troubles in his hands and fingers coordination, leading to slow adoption of writing. He cannot run normally : he finds easier to let his legs remain stiff and somehow ‘rotate’ around his hips. His stand-up balance is poor. He can use a bicycle on flat ground or on very gentle slopes. He swims OK and has good coordination in water. He climbs staircases very slowly.

Besides, he has a normal or above average intellectual and behavioral developement. There is no evolution / degradation visible yet.

‘Usual’ pathologies have been tested and not retained. Raphael does not suffer from myopathies, spinal amytrophies, and his MRI is ‘normal’.

Nervous conduction tests explain hypotonia through weak conduction.

Genetic analysis has (very slowly) started, allowing for no recognition of known pathology (e.g. no known form of Charcot-Marie disease was found yet). All we know is that he suffers from peripheral neuropathy, with a likely 'big axon'. No nervous biopsy has been performed.

No family antecedents are known.

We will post more accurate data gradually or if needed, however translating genetic test results abreviations from French to English will take some time.

Raphael is followed by a strong, but extremely slow and saturated, medical team in a large hospital in Paris, regrouping geneticians, neuro-pediatricians, orthopedists.

We are looking for 2 things today :

1.     is someone experiencing similar symptoms and situation ; if yes, any idea on how to go further and/or alleviate Raphael’s life ?

2.     does anyone know, in the US, a medical team that you would recommend in order to have a second analysis and, possibly, better / faster processes or larger experience of such cases ?

In addition : congratulations and all our best wishes to Hugh Rienhoff, and to all contributors to this site. We have not read everything yet, but we will.