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 in 2021 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 - 31 January 2023
Meeting held via Zoom Video Conference
Secretary/Trustee: Sarah Sullivan SS
Chair/Trustee: Wendy Wilson WW
Treasurer/Trustee: Alex Wilson AW
Attendee: Michelle Edser ME
Trustee: Alison Gould AG
Trustee: Tracy Cubbage TC
WW opened the meeting and thanked everyone for being available.
Minutes of last meeting:
WW signed the last minutes as a true record of the meeting, passed by AW, seconded by SS.
WW – We have had a quiet year regards to grant applications, with only one being applied for by a family, however, we know we have more on the horizon for 2023. There have been a few trickles of money coming in via Much loved and PayPal through families that have been bereaved. We welcomed a new and most welcome member to the committee, Michelle Edser, who also has a child with MIOP.
Treasurer Reports – Financials 2020/2021 and 2021/2022:
AW – talked the Committee members through the financial activity, a printout had been circulated via email before the meeting and available on request.
WW – was the Committee in agreement that financials were all in order?
AW to submit accounts to Charities Commission.
Funding Requests Pending:
SS – a family has requested funding for a fridge and a sofa, what did the committee think of this?
WW - AG had asked via email that she be included in all funding requests going forward as she had not played an active role in the charity for some time. WW confirmed that AG was now taking an active part in the Trust again.
WW – OST Charity Constitution for giving grant payments is:
1) The relief of sickness of persons suffering from Osteopetrosis.
2) The relief of poverty amongst persons suffering from Osteopetrosis and their families who are in need.
ME - need a clearer remit about what we can support, more direct for the child, easier to support.
AW – monies provided to the relief of sickness and of poverty, could be interpreted differently by different people.
WW – was it worth asking a friendly question to people requesting the fridge and sofa? WW to email request to the family for more information.
ME – it is a lot of OST money. It is difficult for families. Monies need to be for medical or mobility equipment that you cannot get second hand.
AW – can make an exception sometimes?
WW – how to get the constitution changed?
ME – when emailing, suggest to the family that it was an unusual request and quite a significant amount of money. We are only a small charity and are having further discussions.
AW – perhaps it does not constitute relief of poverty because of the amount requested.
Medical Advisor Update
WW – at present OST did not have a Medical Advisor.
SS – is a medical advisor absolutely necessary? All the medical information had been taken down from the website because we had no one to check it was up to date. TC felt at the last meeting that it was a big ask of a doctor to commit to checking the correctness for the medical information and impacted their insurance in some way.
WW – if people were asking questions, it felt sad not able to pass on the contact details of someone they could speak to for medical advice.
AW – any families going through MIOP with a child should be under the care of a consultant anyway.
SS – OST provides emotional support/financial support. A medical advisor was not required now.
Communications/Social Media Updates:
SS – should we be vetting the people who want their website links added onto the OST website?
AW – will assess case by case as could be beneficial.
SS – forwarded the emails a while ago, all to look at the links and agree or not agree for the sites to be added. SS to forward the links again.
Any Other Business:
WW – note that AG email address changed, will update on Charities Commission. WW to Email AG new address to SS to update the Group email.
WW thanked everyone for their time and closed the meeting at 8.50pm.
Next meeting: Wednesday, 27 June 2023 at 8pm via Zoom Link