Story about Alternating Hemiplegia Of Childhood .

Xavier's Story.

Jun 7, 2017


Some time after Xavier was born the social worker asked if we would foster him until family dynamics could be improved. This turned into a permanent arrangement when Xavier showed symptoms of AHC at six months and began weekly hospital visits. The eye flicking and some limb shaking was misdiagnosed as epilepsy and six anti epileptic drugs were tried with no improvement and varying degrees of harm. At that point we insisted on trying the ketogenic diet and this improved him enough to stop the hospital visits but did not stop the temporary loss of his left side when tired or after an allergic reaction or the weekly loss of his right side for a day each week. He remains on a very low carbohydrate diet (Modified Atkins). His mother and her parents are very much part of his life, as is his paternal grandfather.

 

Because of his history we expected allergies and were able to get these verified. Margaret made a breakthrough by noting that an allergen such as food when dotted on his skin would raise a red patch if Xavier was sensitive (eczema is still a minor problem). This greatly assisted management. Removal of carpet (house dust mite), insulation to compensate, dust mite covers and regular treatment of clothes and bedding with a hot clothes dryer keeps the mite problem at bay. Xavier is very sensitive to many industrial chemicals such as chlorine or diesel fumes. He cannot swim in public swimming pools because he loses his left side within minutes.

 

Xavier's current paediatrician suggested enrolment in genetics research and an unusual CDKL5 gene was thought to be the cause of his problems. Because the symptoms did not fit, Margaret googled them and came upon a perfect fit with AHC. This was later confirmed genetically with a de novo mutation in his ATP1A3 gene (c.2401G>A:p.Asp801Asn).

 

At present we are attempting to desensitise his allergies because these trigger his episodes and to make our lives easier. We are using injections to desensitise for dust mite, grass pollen and cat hair and should know within a year how successful it is. Recently a Chinese child was reported to improve with drinking ATP (adenosine triphosphate, the energy molecule) so we have ordered a similar drink and look forward to trying it.

 

 

Despite his problems, Xavier is generally a delightful child and everybody loves him.

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