Atypical Progeria Syndrome Harry's story

Hi, Im Harry Crowther, Im 24 years old and I have an extremely rare genetic disorder known as Atypical Progeria Syndrome (Non Classical Progeria) whereby I have a defect with the LAMIN A/C gene (LMNA). Though not to be confused with the classical Hutchinson Guilford Progeria Syndrome (HGPS) - both are Premature Aging Disorders. I was diagnosed in the USA aged 7 years old. Together with my Mum I keep this blog. Hope you enjoy my story.

Friday 20 August 2010

Great Ormond Street Hospital

19th August 2010 - Harry has just had an appointment with Dr Wilson, Genetics Dysmorphologhy Dept at Great Ormond Street Hospital. Learnt so much more about Harry's Progeria. Harry very bravely gave a skin biopsy & bloods to grow fibroblasts with a view to more research into his Progeria. She also took photographs of Harry to aid this - 'Watch this space for news on this'
Dr Wilson suggested a referral to an Occupational Therapist as Harry has limited movement in his fingers, hands & wrists and would benefit from using a keyboard during his time at high school as writing will become more difficult, which explains why he got level 4/5's in his SATS but a level 3 in his writing skills.
She also recommended Harry has another DEXA scan which measures bones density, Harry last had one of these in Dallas aged 7.
Feeling so much more positive after this appointment.