Sofia Gardella is just 5 years old and lives in Nottinghamshire. Each week, Sofia and a family member make a 2 hour round trip to Sheffield Children’s hospital where Sofia receives treatment for an extremely rare genetic condition called Congenital Amegakaryocytic Thrombocytopeniav (CAMT). This is characterised by a low blood platelet count (thrombocytopenia) and a complete lack of megakaryocytes. A megakaryocyte, is a type of bone marrow cell, responsible for the production of platelets.
Platelets are necessary for healthy blood clotting and a lack of them can lead to a host of resulting complications like weakened immune system, aplastic anaemia and even leukemia, which Sofia is just getting over after a stint in intensive care. At the age of 2, Sofia had a bone marrow transplant from an unrelated German donor at Sheffield Children’s Hospital. She received intensive chemotherapy for a whole week before the transplant to wipe all of her original bone marrow.
The treatment was relatively successful but in the last three years since the transplant, Sofia and her family have spent long periods of time in Sheffield Children’s Hospital due to several complications such as; graft versus host disease, spleen removal, glandular fever, vertebral crush fractures, a second bone marrow transplant, smooth muscle tumors of the liver, and autoimmune haemolytic anaemia.
Sofia is now immune suppressed which makes her more vulnerable to illness, virus’ and infections. These can be fatal for Sofia since her spleen removal and so she has been unable to attend school for sometime. However, more recently, she has started going to school for half a day and loves to socialise with her peers! This has been a big step for both Sofia and her family, who have been incredibly brave and positive throughout the whole of Sofia’s illness.
Her mum, Claire Gardella, has had to have long periods absent from work as a special needs teaching assistant to care for Sofia, while dad Fabio continues to work, despite being overcome with worry 24/7. This has put huge pressure on the whole family, and understandably.
Their other daughter Sienna, aged 8, has also been affected by her little sister’s illness. She often has to stay at her Grandmas while Fabio and Claire endure lengthy stints at the hospital with Sofia, which has not been ideal. She also finds change hard to adjust to and suffers with anxiety.
We feel guilty about Sienna missing out on family time like holidays and outings. We’re also concerned that she may feel like she doesn’t get enough attention and no matter how hard we try to make sure this isn’t the case, you can’t help but worry for her too.Claire Gardella, Sofia’s Mum
Sofia is now 5 years old and attends the hospital at least once a week for IV bone strengthening to protect her fragile bones, IV immunoglobulins to boost her immune system, scans and blood tests. At the moment, her blood levels are ok and controlled by around 15 medications a day.
Yet in the last couple of weeks, Sofia has spent most of her time in intensive care with Leukemia. Whilst there, Doctors found tumours in her liver that they are concerned about, so she is due to have an MRI scan soon to determine her next steps.
It’s a very difficult time for us as a family. There is so much uncertainty daily and because we may need to go to hospital at any point, planning things to do with the kids feels impossible.Claire Gardella, Sofia’s Mum
When we asked the family for ideas on what we could do for them, their humble response was Alton Towers tickets. Whilst we will do this, we’re thinking bigger. We want to give them the chance to enjoy a magical family holiday that will enable them to have some much needed family time.
The future is very uncertain for Sofia, yet despite all of the above she remains a happy, loving, little girl that continues to smile everyday. If we can raise some money for the Gardella’s to give them a little bit of 2019 happiness, that’s what we’ll do – but we need your help!
We are hosting the Purslow Memorial Tournament in memory of Anne-Marie Purslow who sadly lost her life last year and to raise money for Sofia and another lady named Claire. This will be a family fun day held at Tamworth Football Club and will include a boy’s, girl’s, women’s and men’s football tournament, stalls, activities and plenty of fun.
We are on the look out for stall holders, sponsors, teams and raffle donations to help us make this a success. If you think you can help, get in touch!