On Rare Disease Day, Sarah* shares an experience which will be familiar to many of you.
My two- year- old son has a rare genetic variant known as MYO5B. It manifests itself as Progressive Familial Intrahepatic Cholestasis and Microvillus Inclusion disease.
Despite presenting with symptoms from only a few weeks old, it took a year and a half to receive a diagnosis, with lots of challenges along the way.
His symptoms include severe digestive problems and an intractable itching all over his body, due to the liver bile levels in his blood. This prevents him from sleeping normally and results in his skin being covered in scratches. At its worst, this would mean that we only slept for around two hours a night. To protect him we would cover his skin as much as possible.
My son is monitored regularly through blood tests and visits to Kings College in London, our local hospital and Addenbrookes who cover the genetic side.
We would really welcome any family who is further down the line with PFIC or MYO5B to get in touch via CLDF as it would be helpful to have your advice and support. And likewise, if we can be of any support to families who have recently been impacted, please also contact us via CLDF.
If you would like to make contact with Sarah, please email families@childliverdisease.org .
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Names have been changed
