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A Dad’s View of 15Q – ( The first two years as a parent of child with a rare chromosome disorder IDIC15 / Dupl15 )

This is the article (A Dad’s View of 15Q  Ian Hill article) I had published in the newsletter for Unique http://www.rarechromo.org and is the starting point for my blogging journey. On the back of the responses and feedback I received from friends, acquaintances and strangers alike after they read it, I was encouraged to set up this page up. The article relates to […]

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Young Carers Action Day 2021

The past twelve months or so have been anything but normal, families have been kept apart, routines and everyday activities have gone out of the window and those with a family member who is disabled or requires additional care have seen their support packages and interventions ripped apart. With those changes, the often hidden, but […]

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Unique Lockdown Diaries….(What if?)

Each year, around the middle of June, Unique, a charity supporting families of children with rare chromosome disorders participate in an awareness programme, focused on raising the profile of the charity and the rare disorders they are experts in. This year, due to lockdown, the awareness week appears to be a little scaled back but […]

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Rare Chromosome Awareness Week – Unique – Light in the darkness

ish dup(15)(q11.2q11.2)(SNRPN++) Approximately 8.7Mb DUPLICATION at 15q11.1-15q13.1 (PATHOGENIC) ……… Confused? We were, and no doubt most other families were when presented with a sheet of paper bearing a string of numbers and a diagnosis at their appointment. The thing is, the sheet of paper is often given with little explanation other than ”It is a […]

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Father’s Day

Father’s day, time to appreciate the guidance and support over the years from the old man, maybe share a beer, send a card gift etc. Get hugs from the kids, receive cards, and hope that they appreciate and value the guidance and support that we as dads provide to them. The hugs and appreciation will […]

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