There are many inherited conditions (also known as genetic disorders) that can affect your blood and bone marrow.
People inherit these conditions through the genes they receive from their parents. They are often very rare and can sometimes be identified from a parent or newborn’s blood sample. However, some conditions remain undetected at birth and do not develop until a little later in life. They include mucopolysaccharide and related diseases (MPS), Wiskott-Aldrich syndrome (Anthony Nolan had this) and chronic granulomatous disease.
There are two main groups of inherited conditions: Primary immunodeficiency diseases (PID) and inborn errors of metabolism (IEM).
There are many different types of PID, with different symptoms, but they all share one similarity – they cause problems with the development of the immune system. Your immune system protects you from infection, so if you have a PID, you are more prone to infections.
Treatment for PIDs aims to control your symptoms and minimise the effect they have on your quality of life. A stem cell transplant may be considered as a curative treatment if your symptoms become unmanageable.
In 2019, 80 patients had a stem cell transplant for a PID in the UK.
You can find out more from the Immune Deficiency Foundation.
‘My blood cells couldn’t fight infections, so I couldn’t join in with things – I couldn’t go outside when the grass was cut, I couldn’t go on playgrounds that had bark chips or near leaves, because of the fungal spores. I couldn’t go camping or into caves or on building sites – I basically couldn’t do anything fun!’
Alex had a bone marrow transplant to treat his chronic granulomatous disease (a type of PID). You can read his story here.
This is a very rare group of inherited diseases that cause problems with your metabolism (the chemical reactions that occur in the cells of your body, which allow your body to break down nutrients and create energy). If you have an IEM, your metabolism doesn’t work as well as it could, which can cause serious health problems.
In 2019, 14 patients had a stem cell transplant for an IEM in the UK.
You can find out more information on the Genetic Disorders UK website.
A stem cell transplant will probably be offered as an alternative treatment if other options are unsuccessful. Many inherited conditions are detected at birth, which means stem cell transplants may have to be given to small children.
If you are a parent who’s supporting a child through a transplant, please read our page for parents for more advice.
The stem cell transplant will likely be an allograft transplant – where new stem cells are donated from an unrelated donor. A small number of conditions can be treated with an autologous transplant – when doctors use a patient’s own stem cells.
Please speak to your transplant team for more information about your own situation, as they will be able to give you personalised, specific advice.
‘I couldn’t comprehend how his Mum and Dad coped. They had to watch what he ate and drank, who and what he played with. But over the years, understanding more about the condition and medication that helped James, I became in awe of this child!’
Sophie ran the Great North Run for Anthony Nolan after her friend’s son James had a stem cell transplant to treat a genetic disorder. You can read their story here.
Many more patient stories are available in our Blogs section.