Author Archives: edward

Anila’s Story: Faith and Thalassaemia

I met Anila on Zoom to ask a few questions to find out a bit about the role her faith has played in her relationship with her medical condition, thalassaemia.

Thalassaemia is an inherited anaemia which prohibits the body from making the required amounts of haemoglobin, a vital part of red blood cells for carrying oxygen around the body.  In its most severe form, like the one Anila has, the only way to survive is through regular monthly blood transfusions at the hospital.  For many patients including Anila the accumulated iron from the transfusions can be toxic to key organs in the body*.

Like most other people with thalassaemia, Anila grew up aware of her illness because the transfusions started from the age of 6 months.  Unfortunately Anila’s first nurse was not very empathetic and she remembers having to wait for her arrival every evening to receive a painful injection to take away the iron.  The timeframe when the nurse would come could be anything up until midnight, which crippled her social life.  She remembers since the age of 4 or 5 thinking of the hospital as her second home.  She grew up in a Hindu household and follows the Sri Sathya Sai organisation:   https://srisathyasai.org.uk/uk-organisation/

As a child she was a member of a group that’s like spiritual scouts, and this taught her many human values and spirituality, which continue to govern her every day.

Anila wanted to become a doctor but was rejected 5 times.  She was told that opening up about her condition on her application form meant that the committee thought the illness would shorten her life and would make training her as a doctor a poor investment. Rather than stop at this obstacle, this drove her to get her science degree and a PhD at Newcastle University.  Many years later at a lecture she saw the professor who rejected her, and she thanked him because the rejection had only made her more determined.  This plays into her belief that things happen for a reason and that there are no ‘mistakes’ in the way events unfold- this is the belief of karma.  Her scientific work happened in hospitals until 2010 and she became a tutor working from home, which she describes as a magical experience to get to help young people in understanding science.  “Life is all about giving what you can, doing your best and being grateful,” she says.

Anila seeks comfort in her faith to deal with the pain and difficulties that thalassaemia has brought into her life.  She believes that you have to go through what is sent along your way.  Anila says she prays for the ability to tolerate and bear the pain and that “it works wonders when you are genuine” but it is also her firm belief that “hands that help are holier than lips that pray.” She has first hand experience with the power of prayer.  She tells a story helping in a medical camp in St Petersburg, Russia, when a mother came with a baby with a severe eye infection- what was needed was penicillin eye drops but there were none in the supplies that had come to the camp.  However, one of the volunteers found a parcel that no one recognised or knew how it had arrived, and on opening it, found penicillin eye drops. 

Her friends and family have always remained supportive and positive, staying by her side through every difficulty and every celebration, and are always prepared to make her laugh.  She is adamant that “laughter is one of the best medicines” and that “it is important to stay grateful for what you have because there is always someone else worse off”.  Affirmations and acceptance work to give her piece of mind even now whilst tutoring- she advises others not to label themselves negatively because those thoughts hold you back. 

I feel really privileged to have had the chance to meet and speak with Anila.  Her story resonated with me and learning about she responded with courage and commitment to what others would see as unfortunate obstacles in her life is truly inspiring.

*nowadays, most people can avoid this toxicity by taking regular tablets, which were not available when Anila was growing up

  • interview by Maya, year 11

A Patient’s Perspective on Pyruvate Kinase Deficiency

Tim’s parents found out that he had a genetic anaemia called pyruvate kinase
deficiency (PKD) before he was born. PKD is an inherited condition resulting
from two mutations in DNA that affect the pyruvate kinase enzyme in red blood
cells. Pyruvate kinase is an enzyme that helps cells convert sugar into energy in a
process called glycolysis. Red blood cells rely on this process for energy, and so
PKD leads to a deficiency in energy and so cells become fragile and break down
easily, a process called haemolysis. Red blood cells transport oxygen around the
body and without them many of the body’s functions become impaired, which
can result in jaundice, pale skin, fatigue and shortness of breath.

As a result of this as a child Tim felt tired and low in energy and was physically
jaundiced. This meant that he was not able to play very physically demanding or
contact sports such as rugby, which he said wasn’t too bad as “sports wasn’t a
passion of mine anyways!”. It also led to teasing and scrutinization from teachers
which overall was not a pleasant experience. This childhood experience of
coping with PKD was Tim’s hardest aspect of the genetic anaemia but he still
made the best of it and became a cox for sailing when he was slightly older,
allowing him to still get involved in sports.
Throughout his life PKD has also impacted him in longer-lasting manners such as
in his career aspirations. Having PKD meant Tim was exposed to doctors and
haematologists from a very young age. This, of course, rubbed off on him and
instilled an interest in biology, which led to him volunteering and then working
at a haematology lab.

To deal with PKD Tim was placed in an incubator for the first 3 months of his life
where he had many blood transfusions. Interestingly, he did not need any more
transfusions until he was 20 years old; this was due to a severe drop in his
haemoglobin. His medication now only consists of tablets and, as he explains,
does not have a large impact on his day-to-day life.
After suffering from a haemolytic crisis the doctors ran tests to understand why
it had happened and what courses of action they should take. They took samples
of his red blood cells and after assessments, came to the conclusion that there
were two possible options for him: spleen removal (splenectomy) or a bone
marrow transplant.

A bone marrow transplant replaces the patient’s own stem cells which produce
damaged blood cells with healthy ones from a donor, and could essentially cure
his genetic anaemia. However this carries the risk of many side effects including
death, and could result in many unwanted consequences in the future. The
spleen is an organ that sits under the rib cage on the upper left side of the
abdomen. It helps fight infection and filters old or damaged blood cells from the
blood. A splenectomy is the surgical removal of the spleen, thus allowing red
blood cells to stay in the circulation for longer. While it carries a lifelong risk of
infection, it is much simpler and safer than a transplant, so Tim and the doctors
then decided that splenectomy was the way to go and so he was prepared.

The preparation for splenectomy consists of receiving a pneumococcal vaccine
and other vaccines to help prevent infection after the spleen is removed – this is
critical in order to prevent life-threatening infections. Tim also underwent blood
transfusions so that he had enough red blood cells after the spleen was removed.
Just before the actual operation Tim was given a general anaesthetic and then
the surgeon began an open procedure (this operation is now usually performed
via keyhole surgery).
During open splenectomy, the surgeon made an incision in the middle of Tim’s
abdomen and moved aside muscle and other tissues to reveal his spleen. The
surgeon then removed his spleen and closed the incision. This method of surgery
has left Tim with a scar that he doesn’t mind much and often forgets about (but
remembers on days at the beach!)

After the operation Tim was moved to a recovery room where he remained until
he was deemed fit to leave. He was also required to then take penicillin tablets
daily and has been on them ever since. After the operation travelling has also
been restricted for Tim. He doesn’t have a spleen and therefore is very
susceptible to malaria meaning he will be unable to ever visit some places
around the world. Tim says that apart from the travelling restrictions and the
penicillin pills the consequences of his splenectomy are not noticeable and the
operation has improved his health. He thinks that though it was a painful process
it has transformed his life for the better.
Overall, Tim’s attitude is positive and inspiring and it was a pleasure to speak to
him and learn about his experience with PKD.

Covid Vaccine

Do you want to know more about how the Covid vaccine was developed so quickly and safely? Here is a 15 minute video explaining everything you need to know about this amazing vaccine.

Click on the title ‘Covid Vaccine’ for the link.

Robi’s story- living with CDA Type 1- by Myah Kenth

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!