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!

The Government have lengthened the shielding date to June 30th.  More information will be available closer to that date.
 

Summary of CAN Q&A on March 27^th 2020
 
These are the key points that came out of the live Q&A.  The information is correct as of 27.03.2020- further Government guidance may be issued and reviewed by the National Haemoglobinopathy Panel.  Please contact info@togetherwecan.uk if you have any queries.
 
Introduction
Please remember the guidance discussed here is specific to the United Kingdom.  Some of the guidance issued here will not reflect national guidance given elsewhere.  Please check with you care providers what guidance is applicable to you.
 
Hand hygiene 
This cannot be over-emphasised. There is a lot of information about how this should be done:
https://www.nhs.uk/live-well/healthy-body/best-way-to-wash-your-hands/
https://www.youtube.com/watch?v=bQCP7waTRWU&feature=youtu.be
 
Social distancing
This is the advice given to everyone in the UK at the moment:
https://www.gov.uk/government/publications/covid-19-guidance-on-social-distancing-and-for-vulnerable-people/guidance-on-social-distancing-for-everyone-in-the-uk-and-protecting-older-people-and-vulnerable-adults
 
Self-isolation/ ‘shielding’
This is much more strict in terms of limiting contacts with anyone outside the home (including not having visits from family members who live elsewhere).  Someone who is shielding should NOT go outside at all for 12 weeks, not even once a day.  They should stay alone in their room, and if they share a bathroom or kitchen, then they should use this on their own and the people who have used it before should make sure they clean everything with sanitiser before the patient enters the room.
 
More detail can be found here:
 
https://www.gov.uk/government/publications/guidance-on-shielding-and-protecting-extremely-vulnerable-persons-from-covid-19/guidance-on-shielding-and-protecting-extremely-vulnerable-persons-from-covid-19
 
If someone is shielding, does their partner also need to shield?
No, their partner or other people in the same house do not need to shield.  They just need to do social distancing.
 
Why have some people received letters from their GP or NHS England telling them they are high risk/vulnerable, and other people have not, even if they have the same condition?
NHS England has apologised to the National Haemoglobinopathy Panel for the errors in letters that were sent and the distress this has caused some people.  Part of the reason for some of the errors is down to what we call ‘coding’ which means that some people with sickle cell trait (who are perfectly healthy) have received letters saying they are ‘vulnerable’ when they are not.  If you are unsure about having or not having received a letter, please check with your clinical team.
 
So, who should have received a letter?
A letter should have gone out to:

• Everyone with sickle cell disease
• Some patients with thalassaemia- the ones with very high iron levels in the liver or heart, the ones with some heart impairment, or the ones with splenectomy AND another risk factor like diabetes
• Patients with DBA who are on high doses of steroids (check with your doctor whether the dose you are on qualities), or whose adrenal glands don’t work, or who have very high levels of iron, or whose immune tests show abnormalities, or the ones who have had a bone marrow transplant in the last 6 months or are still on immunosuppressive drugs
• Patients with other types of inherited anaemias (eg CDA, PK deficiency) who have had a splenectomy AND have a high level of iron

 
What does it mean if you fall in one of the categories above?
It means you should be ‘Shielding”.  However, we recognise that this is not always possible.  Some young children fall in that category and of course they will need contact with their caregivers.  Some people will live in a very small space where being completely isolated for 12 weeks would have a poor effect on their mental health.  In some cases, therefore, going out for a walk on your own and washing your hands when you come back would seem a better option than staying cooped up all day every day.
 
What if I am meant to be shielding but I live alone?
In that case you will be eligible for help- someone will be able to do your shopping for you, or collect your prescriptions.  You can sign up for this here:
 
https://www.gov.uk/coronavirus-extremely-vulnerable
 
What if I am meant to be shielding but I am meant to go to hospital appointments?
All appointments will be rationalised so that only the critical appointments are kept.  Your clinical team should be doing that, but if you are not sure whether an appointment is really necessary, do check with the team looking after you.  There is currently no need to change blood transfusion schedules to reduce hospital appointments.  Appointments which may not be needed include scans (eg Ferriscans) unless changes in treatment would follow the scan (eg change in chelation schedule).  Interactions with staff in the hospital are expected to be safe, and do not require masks.  However, it is perfectly acceptable to ask staff to wash their hands if you have not witnessed them doing so.
 
Many upcoming transplants will have been delayed by several months, so routine pre-transplant appointments should not be kept.  Please check with your medical team in case some of your medications need to have dose changes.  Patients with central lines that are not being used regularly and/or that are not critical should be removed to reduce the risk of infection.
 
It is important that you do not take public transport to your appointments.
 
Do you need to shield if you have HS (hereditary spherocytosis) and you have had your spleen removed (splenectomy)?
This is very very confusing, and we don’t blame anyone for being unsure about this, especially as the UK Government guidance specifically mentions people without a spleen as being very vulnerable.  However, the National Haemoglobinopathy Panel (experts in red cell disorders in the UK) has reviewed the guidance and decided that as long as people without a spleen are up to date with their vaccines and take their preventive antibiotics (if prescribed), they do not need to shield.  Some patients strongly disagree with this, and if you want to shield, you absolutely can do so.  Anyone can shield if they want to.  It is just something that is very difficult to achieve, and on balance people with HS and a splenectomy probably don’t have such a severe risk of viral infection to require this level of protection.  Some people have pointed out that they are asked to have a flu vaccine every year so that must mean they are at increased risk of viruses.  However, the reason for having the flu vaccine is to prevent flu which could bring you into hospital, where the lack of a spleen would put you at increased risk of bacterial infection.
 
If I am meant not meant to be shielding, does that mean I can go to work?
No!  We have had this question asked a lot, some of you are key workers and want to carry on helping, and we can understand that.  However, you will not be helping anyone if you get Covid-19 and become very unwell.  So if you are just social distancing, you should not be going to work.  Speak to your employers and see if there is something helpful you can do from home.  The only exception to this would be people with HS and a spleen, who would be safe to carry on working if they are a key worker.  However, please discuss with the team normally looking after you to confirm.
 
What if your employer is threatening not to pay your salary because you are not going to work?
In many cases, the employers are not following their duties.  Please speak to your medical team- they will be able to provide you with a letter that you can show your employers.  You can also get one from this website:
 
https://111.nhs.uk/isolation-note
 
 
 
 
Dealing with a fever or other symptoms that could be Covid-19
It is very important not to self-isolate in the case of a fever, because the fever could result from a bacterial infection that requires antibiotics.  On developing a fever, it is important to put a hold on chelation, as in the short term it can do more harm than good.  In a very small group of patients (those with iron in the heart), chelation must not be stopped- these patients will know who they are because your team will contact you and let you know.
 
If you get a fever and/or cough, you should consult the 111 website:
https://www.nhs.uk/conditions/coronavirus-covid-19/
 
In some cases you will be advised to attend hospital for testing.  Please follow this advice.
 
However, even if the advice is to stay at home, you must contact your team or attend hospital as you normally would.  Depending on where you live and your local arrangements, for some people this will be a phone call to a 24h line, for others it will be attending the ward, for others still it will be A&E.  Wards and A&E are likely to have been reorganised temporarily and if at all possible, a phone call is advised to check new arrangements.  It is probably a good idea to do this when well rather than wait and do this in case of an emergency.  Please bring your latest clinic letter so that the doctors who see you will have all of your clinical information and drug doses within easy reach.  You may be reviewed by doctors who are not familiar with your condition or your usual clinical pathway due to radical staff changes.
 
Blood transfusions
There are no changes to regimes at the moment, but this may become necessary if blood shortages happen.  Some people will have longer intervals between transfusions and running at a slightly lower Hb. This is not dangerous.  There are currently no blood shortages but please raise the profile in your networks to get people to give blood- known donors as well as new donors.  It is important that you do not take public transport to your appointments.
 
 
Should you wear masks and gloves if you go outside?
The only masks that really protect you from Covid-19 are the ones which will only be available in the hospital.  Some people find wearing a mask outside (bought in a pharmacy or even made at home) makes them feel safer and helps other people keep the 2m distance that is important to respect outside.  Gloves can help prevent you from coming into contact with Covid-19.  However, if you are outside for a walk and you don’t touch anything, and you wash your hands when you get home, this should be perfectly sufficient.
 
What if you have HS and you always get lots of haemolysis when you have a viral infection and you need transfusions?
It’s true that people with HS can get a lot of haemolysis (red cell breakdown) triggered by viral infections, and may require a blood transfusion.  It’s possible that Covid-19 will also cause that.  The way you would be able to tell if you may need a transfusion is getting more jaundiced (yellow around the pupils of the eyes) and getting more tired and breathless.  In that case, contact your usual team to see if you can be assessed for a transfusion.
 
What can you do to stay as healthy as possible and should you increase your dose of antibiotics?
To stay healthy, wash your hands (have we mentioned that?).
Stay hydrated.
Take all the medications you are meant to be taking. If you are not up to date with your vaccines, call your GP to arrange the vaccines as soon as possible.
Look after your mental health.
 
Please do not increase the dose of any of your medications without first speaking to your medical team.
 
Why is sickle cell disease such a risk for severe Covid-19?
As well as not having a functioning spleen (in sickle cell disease, by the age of 3yrs the spleen stops working), patients with sickle cell disease are prone to sickling in the lungs when oxygen levels get low- this is called a chest crisis, and it can be fatal.  Because Covid-19 can cause a lung infection, it can drop the oxygen levels and start sickling in the lungs.  Doctors would treat this by an exchange blood transfusion.
 
Has anyone with sickle cell disease been known to have Covid-19 and how did they do?
Yes, we know of several patients with sickle cell disease who have had Covid-19.  Like in the general population, some have been very mild (like a cold, not requiring hospital admission), some have required hospital admission and some have required intensive care.  Like in the general population, some patients with sickle cell disease have contracted Covid-19 and sadly died.
 
Has anyone with HS been known to have Covid-19 and how did they do?
We have not heard of any reports, but this does not mean no one has had it.
 
If someone has CDA-1 and they are on interferon, can this increase their risk of Covid-19?
We have no data on interferon alpha (the type used in CDA-1), but there are some reports that interferon beta can help improve Covid-19 infection.
 
Does having PK deficiency increase the risk of severe Covid-19 infection?
No, the risk is not increased, but if your spleen has been removed, you will be like the HS patients who need to make sure they are social distancing.
 
Updates
There are weekly meetings at high level so this guidance is being monitored nationally.  If the guidance needs to be changed more rapidly, it will be.
 
 
Finally
This is a scary time for everybody, and we understand that.  It can feel confusing to keep up with all of the advice and guidance.  All guidance will aim to cover as many eventualities as possible, but will never be able to suit every single person’s individual circumstances.  However, there is no need to panic.  Common sense must prevail, and looking after your physical and mental health more generally is very important.  Good food, enough sleep, plenty of laughter.  Oh, and don’t forget to wash your hands!
 
For updates please follow CAN on
Instagram @congenital_anaemia_network
Twitter @CAnaemiaNetwork
Facebook
 
 

We have produced a leaflet about Hereditary Spherocytosis, which we hope you will find useful.
HS_CAN_leaflet