Ald life cambridge rare disease summit 2016 presentation
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Ald life - Cambridge rare disease summit 2016 presentation
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Ald life cambridge rare disease summit 2016 presentation
- 1. KAREN HARRISON MY JOURNEY WITH ADRENOLEUKODYSTROPHY
- 2. Alexander and Cameron born MARCH 1996
- 3. JULY 2002 Family holiday worries lead to frustration with doctors ….
- 4. 4 OCTOBER 2002 Consultation at Addenbrookes Hospital… Our lives change – forever……
- 5. NOVEMBER 2002 We meet Professor Colin Steward
- 6. CHRISTMAS & NEW YEAR 2002/3 Transplant trials
- 7. TODAY
- 8. 2004 • Sara Hunt founded ALD Life • Aim to provide much needed support • Involved from afar • Newsletter –Job advert…
- 9. JULY 2013
- 10. • New Born Screening Application • Local Sustainability Fund award £100,000 • Information Standard Accredited Practical information leaflets for all phenotypes • Commendation from BMA Patient Information awards 2016 • Beneficiary Support • ALD Life family weekend ACCOMPLISHMENTS
Editor's Notes
- Introduce myself
- Born March 1996, beautiful healthy babies, identical twins
- July 2002 Go on holiday to our family villa in Spain From our arrival Alexander is having difficulty finding his bedroom and is clinging to Cameron for reassurance. He becomes very introverted and appears to have problems hearing us. Begin to worry throughout the holiday, but think it could be something to do with his ears from the pressure of flying... Arrive home immediately make doctor’s appointment Doctor tells me that six year old boys often ignore their parents and there is nothing to worry about. Over the next 10 days see two other doctors, one finally listens to me and agrees to refer Alexander to a paediatric consultant. Have to chase the appointment only to be told that there are 15 children ahead of him and it will be three months until he is seen. Alexander has a number of hearing tests which prove that his hearing is fine, but there are some concerns about his cognition. We are then offered if we want see a Consultant quickly we could see one privately, the appointment is made for the next day. It is now the beginning of September; the consultant suspects Petit Mal seizures. EEG is performed, outcome not Petit Mal, but abnormal brainwaves; referred to a paediatric neurologist
- 4th October 2002 our lives changed forever Alexander could no longer attend school as was having so many difficulties with cognition, hearing and eyesight. He was seen by neurologist at Addenbrookes hospital Cambridge; Within half an hour we are told he strongly suspects a Leukodystrophy, explains leuko meaning white, dystrophy meaning destruction, i.e destruction of the white brain matter. Dr Parker then says he strongly suspects Adrenoleukodystrophy... I then start to think my dad had Addison’s disease, he was diagnosed aged 18 and died of an Addisonian crisis aged 48, I was 10 years old could this be linked? YES! I had inadvertently been given a ticking timebomb…… I was at this point 40 weeks pregnant with our third child, due the next day! Then the question arose about Cameron IF they were identical (had never had any need to have them formally tested) Then he too would have ALD... MRI and blood tests followed, Alexander had huge areas of demyelination so ALD was diagnosed. There was nothing that could be done for him. Over the next few weeks; Cameron had blood taken to test for ALD, and our third son Glenn was born. A boy...did he have ALD as well?? Stem cells taken from placenta in case they can be used to transplant the boys
- 4th November 2002 Cameron formally diagnosed with ALD He’s doing fine and an appointment is made to see Professor Colin Steward at Bristol Childrens hospital, (BCH) 11th November 2002 First consultation with the wonderful Professor Colin Steward, (Specialist in stem cell transplantation for genetic and metabolic diseases) Cameron’s Loes score is 8, but he feels that there is still a chance to do a bone marrow transplant in the hope it will halt any further progression. BUT time is of the essence. Glenn’s stem cells are not a match Jonathan my husband agrees to be Cameron’s donor for a haploidentical transplant, no time to find an unrelated donor.
- Beginning of December 2002 Cameron admitted to BCH to start chemotherapy. Alexander continues to deteriorate, speech slurring, eyesight and hearing very poor but is still walking Our parents arrive to help, we are given a house to live in for the duration of our stay. The day before Cameron goes into isolation He should be well and coming home for the day BUT Cameron is very ill, no energy, being sick, sleepy Colin steward called Cameron has Addison’s disease, most probably brought on by all of the steroids that he had been having as cover for the chemotherapy. 100mg hydrocortisone and within a couple of hours Cameron feeling much better The next few weeks Many conversations regarding ALD with Colin Steward where I learn so much, Colin decides that we need to know if Glenn has ALD, so he suggests testing the stem cells taken from his placenta, Jonathan and I agree 20th December 2002 Cameron’s transplant has failed to engraft An unrelated donor is found Devastatingly she decides on 26th December that she won’t go ahead with donating WHAT TO DO? Long conversations with Prof. Steward, do we try again with Jonathan’s cells, do we give Cameron his own marrow back and let ALD take its course... DECISION MADE We will try again with dad’s cells Cameron has now been neutropenic for nearly 4 weeks He’s doing ok, a few temperatures but nothing too worrying Prof Steward and his colleges get together to discuss how to change Cameron’s chemotherapy from a bone marrow transplant back to stem cell transplant. 2nd January Cameron has dad’s cells and an experimental drug called OKT3 is used as anti rejection IT WORKS 9th January Cameron out of isolation Two days later Cameron re admitted with a bad cough, investigations carried out just a common cold Cameron appears to be having some difficulty with his memory can’t remember what he did yesterday, also he can’t hear when using the phone
- Heartbreakingly my Alexander lost his fight to ALD on 24th April 2004 aged 8. Cameron is now 20 and is severely disabled but he still laughs and smiles Glenn is 14 and full of energy and fun
- I contacted the Myelin Trust to ask if they knew of anyone else with a child with ALD Sara contacted me immediately, and so began a wonderful supportive friendship Sara’s son, also Alex, then 11 was very symptomatic he sadly died aged 19. and her other son Ayden who also has ALD had BMT in 2008. He is now 16. Following gentle pressure from several other ALD mums Sara founded ALD Life September 2004, I had always encouraged her and been in the background I notice a job for a project manager to promote the link between Addison’s and ALD being advertised in the newsletter I apply and ….
- The charity is doing amazingly well in terms of supporting patients and their families, has 5 charity shops supporting its core costs and big plans for the future focussed on taking us from a pretty good amateur operation to an international leader in terms of patient support and ALD prevention – new born screening, improved diagnostics and best practice for treatment and care services. Economic survey completed to show benefit to the NHS from ALD newborn screening. Excellent meeting with Ann Mackie led to suggestion that we were ready for rapid review and invitation to pilot the NSC’s new open application process, we await to hear the outcome-Mid November we were recently awarded a Cabinet Office Local Sustainability Fund grant of £100,000. This money is specifically to ensure we can carry on growing and supporting our beneficiaries, to the highest possible standards. We were awarded the highest possible amount. As per the grant rules, we are using the money to expand our business, develop long term strategies and show funders that we have the capacity to grow and manage our finances and services responsibly. Info Standard accreditataion BMA Info awards..very proud as we were one of the smallest charities to receive an award Support families in UK and around the world, approx. 3 support requests each week, emotional/practical and financial support Weekend-we hosted our bi annual event in London this year and 180 family members and medical professionals from around the world attended. Inc Professor Patrick Aubourg, Dr Marc Engelen, Professor Wolfgang Kohler, American specialists and of course our very own amazing doctors Colin, Alasdair, Robin, Elaine Thank Alice Bessey, Jim Chilcott, Leila Cornes, Anny Brown and Pat Roberts from the PANS group for their help in getting us to this stage. Also eminent doctors and professors such as Jim Bonham and Colin Steward, whose advice has been invaluable. I have had several successes during my time of working on the Endocrine awareness project, a few of which are; British Society for Endocrinology agreed to change their adrenal insufficiency leaflet to include ALD as a cause of Addison’s disease Completed Patient Information leaflets for all the main phenotypes of ALD/AMN- Info Standard/ BMA award focussed on taking us from a pretty good amateur operation to an international leader in terms of patient support and ALD prevention – new born screening, improved diagnostics and best practice for treatment and care services.
- And finally, Thank you!