Yasmine & Ryans Story
Yasmine Ryan
As told by mum Alison, with additional medical explanations from our Medical Advisor, Dr Colin Steward.
I have had two children with Malignant Infantile Osteopetrosis.
My first child Yasmine was diagnosed when she was four months old. After several visits to the doctor they eventually referred her to a paediatrician and after a week in hospital she was finally diagnosed. We were then referred to a specialist and were told her only chance of survival was a bone marrow transplant, but this also carried risks. At the time of her diagnosis we also discovered I was pregnant again and there was a 1 in 4 chance of this baby being affected also. I decided to continue with the pregnancy, as most of my time would now be centred on Yasmine. Throughout the pregnancy I was scanned (ultrasound scans) monthly to try to see if this baby might be affected or not. (It is known that both this type of scan and normal x-rays carry the risk of missing the diagnosis in pregnancy). These results did not show any sign of Osteopetrosis, and we had to wait for confirmation when my baby was born.
Yasmines transplant went ahead when she was five and a half months old and by this time she was blind and only had her hearing to keep her going. She also had a large swollen stomach (which was actually due to an enlarged spleen and liver), was always snuffly and we believe she had also suffered fits as well.
It was a bumpy road. She had breathing problems about 33 days into the transplant and was on oxygen from then on. She actually was diagnosed with a viral infection quite soon after the transplant and became even more snuffly. She had a nasopharyngeal aspirate (NPA), which identified a virus which is now identified as being very serious and often fatal after transplant: Para influenza 3. We actually made it out of the transplant unit and after two visits to intensive care with her, thought we were on a home run. Sadly Yasmine returned to intensive care for the last time and after being there over night she was ventilated. After a week on the ventilator and no improvement I made the decision to turn off her ventilator. This was no easy choice but so many factors were against her and gut instinct kicked in. I believed my baby had struggled long enough and had given it her best shot, now she deserved some peace and freedom. I would do anything to have her here but how she responded when her life support was turned off only confirmed my gut instinct - she died peacefully, in my arms.
The road ahead now seemed endless. I was seven months pregnant when my daughter died at the age of nine months. I had another life to help, but trust me, that doesnt help much when youre grieving another child.
My second child, Ryan, was born on the 9th January 1996 just over 12wks after his sister had died. All those antenatal scans had given no clues as to whether Ryan had Osteopetrosis or not. Ryan was born on a Tuesday evening and was diagnosed the following day with Osteopetrosis. Because of his sister, Ryan had a head start on his treatment. He had the typical signs of dense bones, enlarged spleen and liver and his blood tests also confirmed it. At five days old Ryan began to suffer with fits and was taken back into hospital where it was discovered he had low blood calcium levels (hypocalcaemia - children with Osteopetrosis actually have huge amounts of calcium in their bodies - much greater than a normal child - but they cannot access it) and from that day on and until after his transplant, he received calcium supplements every 3hrs, 24hrs a day. (Almost every child with this complication in Osteopetrosis seems to grow out of it at about one to two months of age - it is a very transient phenomenon, for reasons that are not clear).
Ryan was only seven weeks old when a donor became available and things moved swiftly from there on in. Ryans transplant followed a similar pattern to that of his sister but when he ran into blood count problems he was given a top up transplant straight away. He also developed breathing problems, and had a bronchoscopy to identify what the problem was. Thankfully his breathing improved soon after this. After 3mths in hospital his blood counts were raised enough to allow him to leave the hospital, although only as far as our accommodation over the road. Eventually we were allowed home and the ongoing checks at the local hospital began. Every few days to begin with and then weekly, most of Ryans treatment I did myself at home to save on long treks to hospital.
Ryan is now seven and in some ways is a walking miracle. His bone marrow is half his and half his donors. This is known as "mixed chimerism" and is almost universal (it is now realised) after T-cell-depleted transplants such as Ryan had. It is thought that this is because the T-cells are taken away, (these might be referred to as the front line troops in the bone marrow war). They add to the effect of the conditioning chemotherapy to kill any of the patients cells which have survived the chemotherapy. If they are taken away some of those cells tend to survive and Ryan is a beautiful example of this. It is thought that as little as 10 to 25% donor chimerism in the long term is probably enough to stop the major symptoms of Osteopetrosis.
Ryan still has a lot of hospital checks and will continue to do so for the rest of his life. He has sight and hearing problems and has limited ability to take part in physical activities but adapts well to his own capabilities. He also suffers behavioural problems.
What the future holds for Ryan is unknown and nobody has an answer. Will he live a full life? We hope so! Does he face any more problems? We dont know! Will the Osteopetrosis come back? Thats like asking how long is a piece of string!