Julian's Journey with Mecp2 Duplication Syndrome

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Julian's Journey with Mecp2 Duplication Syndrome

This is our son Julian.  He is a very happy and loving child. In March 2019 Julian was diagnosed with a very rare genetic condition called MECP2 duplication syndrome. MECP2 Duplication Syndrome is a progressive neurological disorder.  Common features include non-verbal communication, infantile hypotonia (low muscle tone), global developmental delay, intellectual impairment and/or autistic traits, recurrent deadly respiratory infections, and epilepsy. Other signs and symptoms include ataxia (wobbly movements), gastro-oesophageal reflux, severe constipation, aspiration, and feeding difficulties.

They are currently working on finding a cure. Studies are being carried out in many hospitals throughout the United States, but there is one hospital in particular that is progressing in the processes and that is the Texas Children's Hospital, which works in conjunction with the Jan and Dan Duncan Neurological Research Institute . I have had the privilege of getting in touch with a Geneticist who is very interested in my sons case, but the expenses are out of our reach, so that’s why we ask for your help on making any donations possible. This money will be used for any  of the trips and medical consultations that are necessary.

Organizer and beneficiary

Cynthia Sanchez
Organizer
Las Piedras, PR
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