Kay Parkinson Director and Founder, Alstrm Syndrome UK,& EU - PowerPoint PPT Presentation

Kay Parkinson Director and Founder, Alström Syndrome UK,& EU Charity establishment and funding, presentation for Findacure 24 th January 2014

Matthew  Born 9 February 1975  Normal birth  By 3 months knew “something was wrong”  Nystagmus present  Clinic assured that he was OK and babies eyes were often wobbly in the first few months.  Very hungry baby and difficult to fill him up

Matthew  Concerns increased Matthew taken to GP  Referred to ophthalmologist  Severe eye problems may have..... ocular albinism. ...or I may have contracted a virus whilst pregnant??.......  At 18 months Matthew was diagnosed with congenital dislocation of his right hip.  One session arranged with a genetic counsellor- GP advice have another baby!  When Matthew was 3 seen at Moorfield Eye Hospital - diagnosed with cone rod dystrophy

Matthew and Charlotte

Charlotte  Born 11 April 1981  Normal Birth  Nystagmus seen at 7weeks ( investigated under anaesthetic).  Collapsed in heart failure 11weeks- thought to be caused by a virus. Given a life expectancy of two years.  Hearing loss found at 6 years  Paediatrician says no connection between symptoms  Heart specialist says no need to test Matthew’s heart

Matthew and Charlotte  For next ten years relatively few symptoms appear.  Weight is difficult to maintain  Charlotte is extremely thirsty  Diagnosis changes as often as specialists, ocular albinism, retinitis pigmentosa, ushers syndrome,  Both do well at school and Matthew passes the 11+. The only grammar school for blind children is RNIB New College Worcester.

Matthew and Charlotte

Matthew and Charlotte  Matthew collapses in heart failure age 16. Given 24 hours to live.  18 months later -Lebers Amaurosis diagnosed-referred to Great Ormond Street -  Miss Isabelle Russell Eggitt ( Now Mrs Chazhart) knows what has caused the catalogue of problems and diagnoses Alström Syndrome. Matthew is 18 and Charlotte 15.  Advised to get them both checked for Diabetes which is a known feature of AS.  Both found to be diabetic- probably have been for a number of years  The difference a “correct” diagnosis makes............

Diagnosis- the key  We find that there is an International Society of Alström families and research is underway at the Jackson Laboratory in Maine , USA.  Talk to another mum and hear a mirror image of Matthew and Charlotte’s experiences  Try and find other UK families  Realise that nobody knows anything about the syndrome.  Decide to start Alström Syndrome UK charity

Alström Syndrome UK begins....funding obtained  Alström Syndrome UK charity is founded and the first family conference is held in 1998. Funded by Awards for All.  7 Families attend.  1999 Doctors hold impromptu clinics in hotel rooms  Doctors gain understanding through seeing more patients.  Patients and doctors work together to develop better care .  We start up a web site www.alstrom.org.uk and begin to develop family support.  All this from the back bedroom whilst working full time and looking after two children whose problems seem to be ever increasing.

Matthew  Heart problems increase from 21 years  Hearing loss diagnosed  Fitted with 3 different pacemakers  Problems do not subside and he is referred to Papworth for a heart transplant.  Transplant doctors would have liked to have seen him 12 months earlier.  First offer of a heart is received 4 hours after going on the transplant list- later found not suitable.  Two days after going on the list he receives a heart.  Soon after the heart transplant he went into kidney failure and sadly died 8 days after transplantation.  Matthew was 25 years old and a student at the University of Central Lancashire studying social science.

Matthew (9-2-1978 to 1-5-2003)

Charlotte  At 19 operation for an illeal conduit.  Aged 27 kidney failure and needs dialysis.  After 5 episodes of pulmonary oedema, dialysis is increased to 4 x per week.  Charlotte’s heart cannot cope very well with the dialysis and starts to fail.  Referred for a combined heart and kidney transplant.  Obstacles to listing mean there is a year delay before she goes on the transplant list.  On 28 th April 2010 Charlotte gets the call that a heart and kidney are available for her.  Charlotte died on the 29 th April 2010 she never awoke from the surgery.

Charlotte ( 11.04.1981 to 29.04.2010) and fiancé Andre

Perceptions  Not what we expected children to be like!  Not what we expected hospitals to be like!  Multiple hospital visits-No co-ordination of care  No information about the disease even when diagnosed  No medical expertise-No care pathway -No knowledge of what to test  A&E diagnosis and care-Poor care when in-patients  Transplant referrals made far too late  An NHS with no protocols for treating rare diseases  No adequate social care packages  Attitude issues- Oh she’s now thought of something else that's wrong!

Matthew and Charlotte  Ahead of their time  Trail Blazers – multi-disciplinary clinics set up on the back of the experience of what they went through.  National Commissioning Group Funding for AS clinics in recognition of the highly specialised services required by patients.  Family Support now available and medical expertise beginning to grow.  Big Lottery Medical and Scientific Funding obtained to begin fundamental research into what is happening and why  BBC Children in Need Funding for children’s activities  Raised awareness of life with a rare disease and helped to instigate change.  Not what we would have asked for- but a privilege to know.

Tribunals, Appeals and Courts  A DSS Mobility Allowance tribunal-successful  An Education appeal tribunal-successful  A Disability Discrimination case-successful  A Medical negligence claim-settled out of court.  Social service review instigated investigation of treatment of a vulnerable adult whilst hospital in-patient.  Failure to treat is never cost effective.  All added burdens on a family already living with high pressures.

Achievements  1998 Founded Alström Syndrome UK- where we unite and support families  Developed a web site, patient information and a medical handbook.  Organised an developed multi-disciplinary clinics in partnership with Torbay Hospital and later Birmingham Children's Hospital.  Instigated and obtained NHS Funding from the National Specialised Commissioning Group. Clinics are hailed as a role model for other rare diseases.  Secured funding from Jeans for Genes, BBC Children in Need and Big Lottery.  Started patient led-research

Today  60 families are known to Alström Syndrome UK  AS UK is responsible for 5 contracted staff working on secured contracts from NSCG, Big Lottery.  Working member of the National Plan for Rare Diseases  Joined forces with allied groups, EURORDIS, Genetic Alliance, Contact a Family, Rare Disease UK.  Developed an Asian mentoring scheme.  Moved clinics to the Queen Elizabeth Hospital, Birmingham- the most “state of art hospital” in Europe.  Founder member of the Ciliopathy Alliance  Associate partner on the EU WABB project  Currently: developing an International Big Lottery Grant  Starting up Alström Europe  Applying for Horizon Health Funding and IMI2 Funding

Funding  Appointment of a fundraiser-dedicated to applying for small-medium sized grants.  Keep funders informed-newsletter- ”glossy "annual report!  BBC Children in Need-great support  Grant specific funds-i.e. Asian mentoring service  Funders like to fund a project  Keep vibrant- re-vamp  Be innovative- new technologies  You can’t standstill -you must be moving forward  Keep an eye on what the “big funders” want to fund.

What a Legacy.......

Acknowledgements  Matthew and Charlotte Parkinson  John Parkinson  Patients and Families from Alström Syndrome UK  ASUK Contracted staff  Prof Barrett and Staff at Birmingham Children's Hospital.  Dr’s Tarek & Cramb at Queen Elizabeth Hospital NHS National Specialised Commissioning Group