Family Stories & Minutes of Meetings
Faye's Story Facebook Link
Faye was born in January 2010 with Malignant Infantile Osteopetrosis (MIOP). The pregnancy and birth were all normal and nothing was suspected until she was 8 weeks old. We began to suspect she couldn’t see and she constantly had a runny nose. We were eventually referred to the Bristol Eye Hospital where we were told she had delayed vision development. When Faye was 4 months old her head began to get very large very quickly. She was rushed into hospital where she had fluid drained from her skull. After many tests Faye was finally diagnosed at Bristol Children’s Hospital with MIOP. Fortunately, she was able to have a Bone Marrow Transplant and has now got 100% donor cells from an anonymous donor. Faye is blind because her optic nerves were crushed by overgrown bone as she developed in the womb, she also has Hydrocephalus and other global developmental delays. Faye is now 12 years old and goes to a specialist education facility near her home. Although her development is delayed, there is support in place to provide her with an excellent education and we believe that nothing is impossible.
At about 8 weeks old we noticed Imogen's eyes were flickering and going cross eyed. When we mentioned this to the health visitor, she immediately got the doctor in. She was sent for scans as also her fontanelle wasn't quite right, and also saw an ophthalmologist. The scans showed nothing abnormal, but she was diagnosed with nystagmus. We saw a paediatrician every few months, and when she was 8 months old she had a blood test, and our Osteopetrosis journey began. 12th Jan 2011 we had the diagnosis at Bristol Childrens Hospital. A day we'll never forget.
Both of us, and our eldest daughter, then 3, were tested to see if we were a match. The best was 9/10. There wasn't a 10/10 match, and due to Imogen's rare tissue type there were only two others that were 9/10. It was decided that her Father, Alex, would be the donor. After several delays due to viruses, Imogen had her transplant September 2011 aged 18 months. It wasn't without its complications, but she was finally discharged in Jan 2012. Unfortunately, her level of donor cells declined slowly, and by Jan 2013, she was less than 5%. We made the decision to have another transplant. Luckily a donor was found who was a 10/10 match! 14th Jan 2014, she received the stem cells from a German female donor. She suffered from GVHD. After 4.5 months we were discharged, but once again the donor cells started to decline. She had a few stem cell top ups, but it wasn't effective. It was decided that a DLI, donor lymphocyte infusion, would be the only option . Previously, the t cells had been taken out as bizarrely JimJams levels were high. DLI had then still in. 3 months later we finally had the news she was 100% donor.
Imogen is totally blind, has moderate hearing loss and learning difficulties. At 11, she is getting stronger and taking tentative steps to walking. But what a happy little girl.
Alexander’s Story Written by Tracey Jones, Mum
Alex was born in 1993, my second son. His older brother, Matthew, then nearly three was delighted. During his first three months Alex’s weight gain was a little slow and he had continual snuffles. He then got a sticky eye. After several visits to our GP, Alex was thought to have an enlarged liver and spleen. The GP was concerned and said that there could be many causes for this including viral infections, blood disorders, etc. and we were admitted to Bristol Children’s Hospital where the Oncologist Consultant gave a provisional diagnosis of Malignant Infantile Osteopetrosis. He explained that Alex’s bones were “marbleising” as his bone marrow wasn’t functioning correctly. This was a rare genetic disorder but it was possibly curable.
We were told that the only possible treatment was a bone marrow transplant (BMT). There was a much better chance of success if Matthew was a match and we were told that there was a 25% chance of that. If he wasn’t, it was possible we might find an alternative donor, possibly myself or Alex’s Father (Chris) or from the national panel of potential donors. BUT… if the procedure was successful, Alex would be cured.
We were told that if a transplant wasn’t possible, the disease would progress and Alex would lose his sight and hearing, communication would become very difficult and then impossible. His brain would become cramped and damaged and he would be unable to fight infections. This would be because his bones would solidify and he would be unable to produce bone marrow. Without a transplant, he was likely to die before the age of 3. We were stunned at the severity of the condition and the poor chances of a cure. We went home.
Over the following weeks, Alex had many x-rays and blood tests. We all had blood tests to determine HLA typing (whether one of us was a match for the BMT) and at last I was told that my two children were perfectly matched. This was the best news I had heard for a long time. Alex was over his first hurdle.
Alex’s blood counts began to cause concern and he had a number of transfusions, both red cells and platelets. Some of these had to be carried out over long periods of time – because he was so small – and this meant staying in hospital.
There were major risks with the BMT; it was possible that Alex could die during or soon after the transplant. However, the hospital was very positive and gave us lots of information. We were talked through the drugs Alex would be given and the possible side effects and the antidotes given to counteract them. We were upset to learn that Alex would probably be rendered infertile because of the drug regime. It seemed a daft thing to be upset about, as if that was all he had to worry about in 20 years time – at least he would be around!
Alex had an ultrasound scan to ensure the major organs were healthy but this showed his right kidney was enlarged and blocked and also that his ureter was enlarged. He was injected with dye before special x-rays were taken showing his bladder and kidneys working.
Alex obliged – all over the Radiographer! The results showed a definite blockage around the ureter on the right side. Alex had surgery the next week to take the kink out of the ureter and attach it to the bladder in the right place. (This was seen as incidental and not associated with the Osteopetrosis). Alex’s surgery lasted three hours. When we were allowed to see him, he was wearing an oxygen mask and had two drips – one a maintenance fluid, the other morphine.
On the morning of Alex’s bone marrow transplant, Matthew had an operation to harvest his healthy bone marrow. Alex was in an isolation cubicle to protect him from infections. I had to change into sterilised clothes for the first time and observe isolation procedures. Matthew’s marrow arrived at the hospital mid-afternoon. I took a photo of the bag!! Matthew said, “That’s my blood going into Alex” and was very proud of himself. It was expected to take two weeks before a graft (when the new bone marrow is accepted by the new recipient) – it was going to be a long wait!
Alex’s white blood cell count dropped to zero and stayed there. He was “up and down” for the next week or so, needing the Total Parental Nutrition (TPN) to keep him going. His mouth was sore and he was unable to feed normally. Then his blood counts started going up… then down… but the trend was up. His chest became wheezy and there was some concern that he had another chest infection. Alex became lethargic and tired. The doctors decided, nearly three weeks after the transplant, that he was fluid overloaded and that his lungs were full of fluid. All but essential fluids were stopped and diuretics were given by what seemed like the gallon. Alex didn’t improve, in fact he got worse. He couldn’t breathe easily and his temperature and blood pressure were high. He was transferred out of the BMT Unit and into Paediatric Intensive Care Unit (PICU). We knew this wasn’t a good sign, he was still extremely vulnerable to infections and he had to change out of a clean environment into one where other people with germs were likely to be. However, within 36 hours we were back in the isolation cubicle on BMT where, strangely, I felt “safer”. Alex’s white blood cell counts continued to rise as well as his other counts and his need for blood transfusions diminished.
Alex left the BMT Unit less than six weeks after admission. What a wonderful and longed for day that was. Apart from a few minor hiccups, Alex’s recovery was remarkably good. He began to grow at a normal rate (although we were told he will never “catch-up”) and he has developed normally. He has no lasting sight or hearing problems.
As for the future, the prognosis is very good. Whether his fertility was affected remains to be seen. He must take Penicillin daily incase his immune system was damaged by the chemotherapy and this may continue for life. Otherwise he is completely normal. He plays football, enjoyed school and has a very outgoing personality – we consider ourselves very lucky.
Grant Funding for Sienna!
We were able to help Sienna by providing funds to get her a good wheelchair to support her day to day life. Sienna was finding mobility progressively difficult and longer distances a challenge. Sienna's family applied for a grant via our website and we were happy to agree to support her. Doesn't she look fabulous in her new wheelchair!? This will help Sienna and her family enjoy getting out and about again and make life easier for travelling longer distances.
Minutes of Annual General Meeting - 26 January 2022
Meeting held via Zoom Video Conference
Trustee: Tracey Cubbage TC
Secretary/Trustee: Sarah Sullivan SS
Chair/Trustee: Wendy Wilson WW
Treasurer/Trustee: Alex Wilson AW
Attendee: Michelle Edser ME
Apologies: (Trustee) Alison Gould AG
WW opened the meeting and thanked everyone for being available. Points to action for next meeting - highlighted in red.
Minutes of last meeting:
WW signed the last minutes as a true record of the meeting, passed by TC, seconded by SS.
WW – It had been a quiet two years for the Osteopetrosis Support Trust (OST) Charity due to Covid-19 affecting everything. There were no meetings last year but going forward there would need to be two meetings per year.
Treasurer Reports – Financials 2019/2020 and 2020/2021:
AW – talked the Committee members through the financial activity, a printout had been circulated via email before the meeting and available on request. Healthy bank balance going into 2021-2022.
WW – was the Committee in agreement that financials were all in order?
AW to submit accounts to Charities Commission.
WW - Awaiting forms to be returned from two families that had asked for funding as their children were currently having bone marrow transplants in the United Kingdom. Would continue to check the OST emails for the completed forms.
SS – was there a need to fundraise at present or were there enough funds?
WW – we had examples of families OST had given money to. Would suggest pausing fundraising for now. Discuss again at next meeting – add to Agenda.
Membership – New Members/Trustee’s
WW welcomed new member Michelle Edser, whose son had been affected by Malignant Infantile Osteopetrosis (MIOP).
ME – volunteered to become a Trustee of OST, WW to liaise and organise.
WW – there was a need to encourage members of newly affected families to join OST, also any friends or families of current members.
Medical Advisor Update
WW – at present OST did not have a Medical Advisor.
SS - there was a possible advisor in America, but they were not contacted because of Covid-19 and how it was affecting the UK and America back in 2020 and at present.
AW – the previous Medical Advisor, Dr Colin Steward, recommended a person in Birmingham.
WW – would telephone Birmingham Hospital to try to source a Medical Advisor.
ME – son was treated in Great Ormond Street, but the Consultant had retired. What would a Medical Advisor do?
WW – keep all the information related to treatments, research, trials, etc. up to date. OST would also like to donate funds towards the research field of MIOP.
TC – Years ago, Dr Steward asked if OST would fund some research through Southmead Hospital. Were the funds ever donated?
WW – checked back through the accounts and could find no funds taken for research in recent years.
TC – there were difficulties in trying to get a Medical Advisor. A) MIOP was one of many of those types of genetic illnesses, there were not many consultants with such a level of interest in that type of illness as Dr Steward had. B) Consultants must pay more into their Medical Indemnity Insurance to be a Medical Consultant for a Charity. We might struggle to get anyone. Could take the medical advisor out of what we do?
SS – What would we provide as a Charity if we did not offer medical advice?
TC – the Charity purely used to support families by sharing stories and experiences with people newly affected. Just offering someone to talk to who had been through it themselves.
AW – OST could now offer funding and emotional support.
SS – agree with TC that the medial information could be left out for now. Would take Dr Steward references and photo down from the website in the next few weeks.
AW – could use website to just explain what OST was about and put links to other websites instead of specific medical advice.
TC – there was an American website with a similar name that could be linked.
• AW to explore other websites.
• WW to still contact Birmingham Hospital just for a name.
• SS to edit the website accordingly.
Communications – Social Media Updates:
WW and SS were answering OST emails on a monthly Rota and updated the Facebook page as regularly as possible. It was mostly spam and junk mail about fundraising. Would continue as is.
ME – remembered that early in the diagnosis of MIOP, she was desperate for information and felt that was important for families at that point. A person to phone for someone to talk to was important. Would look at website and make suggestions. Was good to know other families were out there but all the children that had been affected were unique.
WW – the charity members were all at different stages but felt it was helpful to have something on the website and Facebook to say how the children were doing now.
AW – it was good to know what you could claim for, grants, support, benefits. There was not any framework to support families with genetic conditions. Getting financial support and advice was difficult when first diagnosed. Website could provide advice for families.
ME – did not know about Motability, house adaptions, funding, etc. until much later during the MIOP journey.
SS – it depended on what the Local Authorities provided and what area the family were in.
WW would investigate something suitable for the website.
Members Fun Day:
WW – was going to contact Alison Gould, who is a Trustee of OST. However, the family were not contactable now due to illness.
TC - There were a few OST get togethers for all families across the country years ago. Dr Steward would update all medical research. Families would chat informally and have lunch and the children would play.
WW – would a meeting with other families across the country be beneficial at present? A central location? Should we pursue or leave at present because of Covid?
SS – suggested leaving until next meeting as Covid restrictions were still changeable.
WW – discuss at next meeting in July – add to Agenda
Any Other Business:
WW thanked everyone for their time and closed the meeting at 8.50pm.
Next meeting: Wednesday, 13 July 2022 at 8pm via Zoom Link