Robi’s initial presentation at birth and diagnosis

Robi is a young boy aged 8 who was diagnosed with Congenital Dyserythropoietic Anaemia type 1 (CDA-1) as a young baby.

Red blood cells contain a protein called haemoglobin that lets blood carry oxygen around the body.

What is CDA-1?

People with CDA-1 make red blood cells more slowly than normal in the bone marrow and break them down faster than normal in the blood vessels. This means that they have fewer red blood cells and less haemoglobin to carry oxygen around the body, making people with CDA-1 feel tired and grow more slowly than other children.

When Robi was born, he was noted as anaemic and put in intensive care for 3 days, where he was given an immediate blood transfusion and had a battery of tests. He was then discharged, but came back every 6 weeks for a review, where he received blood transfusions each time. This cycle repeated, and each time Robi underwent more tests in attempt to identify his condition. Resina, Robi’s mother, expressed the difficulty in the diagnosis of CDA-1, given that it was such a rare disease, hence many tests were done before a conclusion was made. After a bone marrow test when Robi was 9 months old, he was diagnosed with CDA type one.

Growing up with CDA-1- how has this impacted Robi?  When diagnosed with this disease, Robi began having daily injections at home as treatment, however he found, despite the injections, he was often tired, and his growth and development were impacted as well. This was because his haemoglobin was not being maintained at a high enough level. The average haemoglobin level in a child is 110-130g/L but Robi was often as low as 70 g/L! This low haemoglobin level impacted Robi’s life, as he was so tired he sometimes fell asleep in lessons. As well as this he often lost his appetite. After being seen by a CDA specialist, Robi’s treatment changed from these injections to blood transfusions. He found a noticeable energy change with these and his haemoglobin levels were much higher, staying over 100 g/L most of the time. Robi also underwent growth hormone treatment, which really helped his growth but like before, Robi still can’t partake in sports as he still doesn’t have the body strength that, for example, would enable him to kick the ball during football with his peers. He is also the smallest boy in his class. However, Resina said that although he still can’t play sports with friends, his strength has improved massively after receiving transfusions. As well as body strength, there are other factors such as speech that still effect Robi’s everyday life, his speech isn’t always clear, this impacts on his relationship with his peers as they don’t always understand him.

How does CDA-1 affect Robi’s family?

In the past Robi also has had occupational therapy to help his motor skills develop, as due to his struggle with strength and tiredness, he previously couldn’t hold a pencil properly meaning his handwriting was poor. Daily activities such as getting dressed also used to be a struggle for Robi, but now, as he’s more grown up, he can do this himself. Robi’s older sister, Zara is registered with the young carers’ service and helps Robi greatly, for example when he would need help getting dressed she would help with this, and she would also calm him down when he was upset. Resina feels Robi’s illness has impacted Zara’s wellbeing as she can often feel her own needs are not considered as important as Robi’s.

CDA-1 during COVID

Since the start of lockdown, as hospital visits come with more risks, Resina decided Robi should go back to the original injections as treatment for his condition. These are now administered at home. However, Resina plans for him to switch back to the transfusions soon. The injections are now only taken once a week which is easier to deal with. Robi prefers the transfusions as he gets apprehensive with the injections, as they are often painful. Robi must be held down by his Dad during his injections as they are so painful. This is quite intimidating for him, and even though he now uses a numbing cream to help with the pain, he still finds them hard to handle. Because of this, Robi’s parents don’t like administering his injection as it can create a stressful environment. However, he finds the visits to the hospital enjoyable, as he receives a high quality of care there, from a team there that fully supports him and makes him as comfortable as possible. Resina feels the whole family have a good relationship with the hospital team. Even though the hospital is over an hour away from where the family live, Resina feels the trip is worth it for the care Robi receives. However, she noted that this is difficult for her daughter Zara, who must be picked up by another parent from school while Resina and Robi are away.

CDA-1 support groups

Resina didn’t meet other parents with a child who also has CDA-1 until 7 years after Robi was diagnosed. She recommends talking to other parents in a similar situation as she finds this comforting and a helpful way to gain tips and advice. This support was found mainly through a Facebook group on CDA that Resina was added to, she found that this was a really useful source of information and advice and a great way to meet parents and patients around the world. The family also regularly attend Congenital Anaemia Network (CAN) events, where other CDA-1 patients also come.  Resina feels, especially when dealing with a rare condition, that parents are the best support network. The network group are aware of gene therapy and its role in the potential curing of anaemia. Resina thinks it has hope for the future but now it’s only early days.

Robi is a very positive boy with an optimistic outlook on life, he finds pleasure in a lot of activities, his main areas of interest being science fiction. He loves learning about science and is obsessed with Doctor Who!