Ally Boyle

Retired Fire Officer tel us his experience with MDS

In mid 2007 I began to feel really exhausted and unwell, I had been working long hours in a stressful job as a senior officer in the fire service, we were in the midst of moving house and my wife was in the late stages of pregnancy, so I thought it was just stress.

Read More

Ghani needed Azacitidine, but in Kosovo there was no easy way to get it

What national and international patient advocacy can achieve when working in cooperation

By Blerina Ahmetaj-Shala.

Imagine hearing the news – you father in law, a young, fit and seemingly healthy person has MDS. What was MDS though? I had never heard of it despite working in science myself, and living in the UK.

Read More

Bergit Kulhe, MDS patient and advocate, tells us about her experience with iron chelation

Following is an article by our friend and long-term MDS patient advocate from Germany, Bergit Kuhle.
Bergit, together with Anita Waldmann, runs an MDS Patient Group in Germany, and both are founding members of the international MDS Alliance – the umbrella organisation for all national patient groups in the world.

No chance to lay down my burden of iron overload somewhere

Our organism does not have any biochemical or physiological pathway to remove excess iron. Instead the excess iron accumulates mainly in the liver, joints, pancreas, bone marrow and at the worst in the heart, causing organ and tissue damage in the long run. We’re talking about transfusion-related iron overload.

I have been a Myelodysplastic Syndrome (MDS) patient for more than 12 years and I regularly need blood.

The main cause of iron overload is transfusion therapy. Each unit of blood transfused delivers 200–250mg of iron. After only 20 units of transfused blood, 4,000–5,000 mg of iron will have been delivered to the body. At this ironloading, the serum ferritin level rises to about 1,000μg/l. When this level is about to be reached, the doctor suggests iron chelation for transfusion-dependent patients like me.

Bergit Kuhle: MDS Patient on Iron Chelation Therapy

I have been a Myelodysplastic Syndrome (MDS) patient for more than 12 years and I regularly need blood.

Each unit of blood transfused delivers 200–250mg of iron. After only 20 units of transfused blood, 4,000–5,000 mg of iron will have been delivered to the body.

But our organism cannot remove the excess of iron so it accumulates mainly in the liver, joints, pancreas, bone marrow and at the worst in the heart, causing organ and tissue damage in the long run.

My experience with the iron chelator Deferasirox

I have never had a wealth of medical expertise on iron overload. I have accepted the most important fact: excess iron does harm to my vital organs, so chelation is necessary.

Everything went according to plan. I trusted the medication, not giving too much thought to the issue. I have been tolerating the iron chelator, Deferasirox, without significant side effects for 10 years now. I only had an uncomfortable rash in the beginning, which disappeared after two weeks and never ever came back. The ferritin level reliably has descended and always has
stayed below 1,000μg/l.

So, I felt safe from life-threatening organ iron deposition. I was as compliant as can be and always, always took my pills or my suspension even when travelling. I even prepared and swallowed the suspension in an airport’s ladies room. Finally, I have built confidence in my ferritin level, which was fluctuating a little from time to time. But ‘what the heck’, my haematologists have
been content with 400-700 μg/l and I have never been experiencing any discomfort.

I have been lucky with my iron-chelator Deferasirox, being free from side-effects. Whereas in MDS web forums and in my work with patients, I met with various people suffering from all kinds of bearable or unbearable side-effects, mainly such as all stages of gastrointestinal disorders.

A chemical compound binds with the excess of iron in the body to safely pass through the body

Whether you are offered iron chelation treatment or not will depend on the likely benefits versus the likely disadvantages in your
individual case. This will be discussed with you before you make a decision to start iron chelation.

Desferal is a drug to treat the build up of excess iron and is given as a continuous subcutaneous injection under your skin by a pump. There are special teams that can teach you how to administer the drug at home. Exjade is another iron chelator and comes in tablet form, making it easier for patients with poor sight, problems of finger dexterity or a fear of needles. However, in most cases this is only available for patients who cannot manage subcutaneous Desferal or who have serious side effects on Desferal.

Both treatments have certain side effects and often need to be continued for a long period of time to be effective. Your doctor can advise you which drug will be best in your situation.

From our booklet Understanding MDS: Patient Handbook. Click here to download

Devastating news

For me years of chronic transfusion dependence went by and I counted my blessings: more than 530 units of blood in total since 2008, with a stable transfusion interval of 10-18 days since 2010.

My treating professor initiated an invitation for me to a special clinic, where I underwent an MRI in autumn 2017. They scanned my heart, liver, pancreas and my bone marrow. The results were devastating. My view on iron overload broke with the medical report. I still have not fully recovered from what I was told. I would be very lucky, the radiologist said, if my heart was still free of iron. But my liver and my pancreas show a five-fold iron overload, also my bone marrow is full of iron. Another obstacle for
haematopoiesis in addition to my blood disorder.

Where do we go from here? Heading towards diabetes, liver cirrhosis or even hepatic cancer? My heart is iron-free, yes, but the pancreas is strongly loaded. No reason for long-lasting joy as the pancreas takes up similar iron species as the heart, only earlier. Iron overload of the pancreas serves as an early and robust marker of prospective cardiac risk.

It is neither an option for me to increase the dosage of the iron chelator – this could be toxic for my kidneys for instance - nor to reduce the number of transfusions – this would destroy my quality of life and would send me into severe anaemia. I’m stuck.

As so often in the course of my disease there is a diagnosis without any therapeutic consequences. That’s frustrating.

On the medical report I more recently read ‘severe hemosiderosis of the pancreas and the liver’ amongst my other serious health problems. However, my liver values (GPT, GOT) are not yet elevated. Not yet? I am anxious and confused: that’s the patient’s perspective.

Only now I am finding out that for any one patient, the predictive value of ferritin is quite poor. Two patients with identical total body iron burdens can have vastly different serum ferritin levels. Many factors affect the relationship between iron overload and serum ferritin levels. But still the ferritin level generally correlates with both, total body iron stores and clinical outcomes.

Serum ferritin therefore remains the most commonly used metric to monitor iron chelation therapy. Mainly because its measurements are inexpensive in comparison to MRI. However, the biology of circulating ferritin is poorly characterised and hardly comprehensible for non-physicians and non-scientists.

The way iron is regulated by the body relies on a regulated network of systemic and cellular mechanisms for the acquisition, transportation and cellular utilisation of the metal. I very well understand that these metabolisms are completely disturbed in case of strong iron overload.

Chelation Therapy: Good or Bad?

At the end of this article I want to make clear one thing: the outcomes of chelation therapy in Myelodysplastic Syndromes are not bad. There is a positive impact on survival, without doubt. I probably would not be alive any more without Deferasirox.

There are retrospective studies clearly indicating a significant improved survival in patients who received regular iron chelation. Transplant outcomes are also far better after iron chelation therapy. And in case there is a cure, high iron stores can be drained or at least reduced by a most effective phlebotomy therapy.

So yes, there are definitely some solutions for iron overload, if you are in the right cohort. But we urgently need more innovative iron chelation therapies.

Bergit writes a regular column in ‘MDS Europe’, the online home of the MDS-RIGHT project and the future hub for all European MDS information and guidance.

This article appeared first in MDS Patient Support Group Newsletter May 2018

MDS UK Newsletter

Contact Us to receive it

Share your experience and questions!

Joseph Vella: His experience with azacitidine and stem cell transplant at the age of 63

“I hope and trust that my little story would encourage other MDS sufferers to decide to go through with the treatment. It was proved that even patients who are more than 60 yrs. old can benefit from Bone Marrow Transplant. The reduced regime used to treat me has been quite successful. It is not as stressful as the full regime I believe.”

I would like to introduce myself. My name is Joseph Vella. I am a medical practitioner by profession and now I am 66 years old. I am of Mediterranean ethnicity — I come from Malta. However, nowadays I spend long periods in Britain, at my home in Bury St Edmunds.

I started feeling very tired and I could not enjoy wine. It had a particular, nasty taste

At 62, four years ago, in March 2010, my wife and I went to Mexico for a few days. We returned to Southampton on a transatlantic cruise from Miami.

I started feeling very tired during the cruise. I could not keep awake during the daily after-dinner show. Also, during dinner, I could not enjoy wine. It had a particular, nasty taste. I kept ordering finer wines but to no avail. On one occasion I tried swimming in the pool but I almost drowned. Usually I am a strong swimmer but I almost did not manage to get from one end of the pool to the other (only about 10M).
Something was definitely very wrong with me.

I knew that I had been bitten by some insect while I was in Mexico, and that I ran a mild temperature for a couple of days.  However I was well again when we boarded ship.
Eventually we landed at Southampton and my wife and I went to stay for a few days at my daughter’s house in Waltham Abbey. I was still feeling very tired and found that I could only negotiate two storeys of steps with difficulty. I kept on believing that it was some tropical disease I contracted in Mexico.
My wife and I went to Malta, and I had some blood tests done. To my surprise, my Haemoglobin level was down to 10.1 g/dl.  Platelet count and White Blood Cells count were both down. A blood smear showed blast cells. A bone marrow biopsy confirmed MDS with 10% leukaemia cells.

Joseph Vella: MDS Patient on Azacitidine and Bone Marrow Transplant

My daughter is a doctor and was being trained in a subspecialty at King’s. Seeing that the world expert on MDS was Prof. G.J.Mufti, based at Kings I asked my daughter to make an appointment  with him. In fact I was seen by Prof. just three days after the diagnosis was established.
Apparently, the protocol at the time was that people over 60 years of age should only be given palliative treatment. However Prof. agreed that I should undergo several tests to establish whether I was fit enough to be given the full treatment with a view to Bone Marrow Transplant in the future.

MDS Centres of Excellence in the UK

I started on Azacitidine daily for one week and ten days after fever came with a vengeance

I proved to be healthy enough, and was started on 5-Azacitidine inj. daily for one week. Ten days after I finished my first course, fever came back with a vengeance. The insect bite disease came to the fore. My body temperature was oscillating between 102 and 104 degrees F. This was accompanied by a very severe cough, a generalised body rash and grossly swollen legs  which were excruciatingly painful when I tried to walk.  I was admitted  for treatment but no antibiotics seemed to help. After about three weeks on Davidson Ward with no improvement in sight, I despaired of living and asked for the treatment to be stopped so the disease could take its natural course. I was talked out of this attitude by Prof. himself (and thank God I obeyed). All blood cultures proved negative, even when taken during the rigors.  So an intracellular bug was postulated. In fact I was started on Doxicycline and within five days I was fine and discharged home.

Treatment with 5-Azacitidine was, eventually, resumed and by September 2010 my MDS was in full remission and I was deemed ready for a Bone Marrow Transplant.

My experience with Bone Marrow Transplant

Unfortunately no match was found for me in the International Bone Marrow Donor database.  I only had one sibling, a younger sister, who a few years previously had suffered an intracranial haemorrhage from a Berry Aneurysm.  I could not upset her  with a request to be tested for a possible match.  All my family was tested and, fortunately, both my daughters proved to be mine!  Prof. suggested that bone marrow from one of them be transplanted, a technique that was being perfected. In view of the length of time I was expected to be under treatment and eventual observation I bought a house in England.
A haploid (half match) transplant was scheduled for 19th January 2011, following a reduced regime of induction, a Mini Transplant because of my age.  A couple of days after the transplant I developed explosive diarrhoea, which took a long time to be brought under control. I experienced several early complications like Graft Versus Host Disease of the skin, including my scalp and face, and neuritis of the soles of my feet. Other later complications were a lung infection with PCP, and Herpes Zoster of my left eye. These were all controlled by the team of doctors at Kings.
The only problem at the time (and to date) seemed to be that, though my white cell counts and platelets were at an acceptable level, my Haemoglobin level kept going down, necessitating repeated transfusion. I was started on Darbopoietin Injections with very good effect. The Hb. level is kept swinging between 110.g/dl and 13.5g/dl in between injections, a level I have to keep as otherwise I get chest pain on exertion if it goes down below 11g/dl ( I had a quadruple coronary bypass in year 2000).

In the meantime I was allowed to go on holiday to Malta on several occasions. Three years after the transplant I started to holiday for longer periods and, now, I no longer have to go for follow-up every 15 days. Follow up is every three months.

Been through hell and back but it was worth it

Looking back I know that I have been through hell and back but it was worth it. I am now healthy and look forward to the rest of my life with optimism. I have been supported by my wife through it all, and I know that she has passed through her own private hell. She was a brilliant support for my morale, though, in truth, she does tend to nag a bit too much! I know I would never have made it without her support.

I thank all the Staff at Haematology at Kings for their support and understanding. I know, through my own experience, that they can be trusted fully to go beyond the proverbial mile to get the desired results.

I hope and trust that my little story could encourage other MDS sufferers to decide to go through with the treatment. It was proved that even patients who are more than 60 yrs. old can benefit from stem cell transplant. The reduced regime used to treat me has been quite successful. It is not as stressful as the full regime I believe.

MDS Centres of Excellence in the UK

Share your experience and questions!

Reginald Hall Patient Story: at 95 and happily married

Reginald Hall's story is an uplifting one. Reginald is an MDS patient who has been a member of MDS UK Patient Support group for quite some time. Lately we received a couple of letters from him and he allowed us to share them with our members on the website.

Read More

Evie McClean

Evie McClean is a young member of the MDS UK Patient Support Group. In July 2014, when she was 8 years old, Evie was diagnosed with leukemia. After 4 months of chemo she had 6 month of remission, but then she became ill again.

In July 2015 she was diagnosed with MDS and bravely endured more bouts of chemo. In November 2015 Evie received a bone marrow transplant.

Very sadly, after being well for some months, in August this year her mother, Nicki McClean, was given the devastating news her daughter would need another transplant after she was diagnosed with leukaemia once more.

She had a second transplant on 22nd December 2017, Evie’s 12th birthday.


Evie at Royal Marsden Hospital

Evie and her mum Nickie

Evie tells in this video about her previous transplant in November 2015

70 percent of those needing a bone marrow transplant using donor stem cells are unable to have one because a suitable bone marrow donor cannot be found

Can you help? Register today, you can save a life

All it takes to join the register is a bit of spit or a swab

Shirley O’Brien MDS Story

How a clinical trial gave me my life back after MDS and AML

Five years ago, my spouse and I had settled into our dreamed-of retirement. But on Feb. 6, 2012, I was diagnosed with myelodysplastic syndrome (MDS). Because I was in my early 70s, a bone marrow transplant wasn’t my best option.

Shirley O’Brien

What happened when the chemo stopped working

I received chemo infusions for seven days every 28 days to improve my bone marrow and blood cell function. But after nearly 3 1/2 years of this, I learned the chemo was no longer working.

A subsequent bone marrow biopsy demonstrated progression of my MDS, with the identification of an IDH1 mutation.

I sought a second opinion and got a grim prognosis. The oncologist gave me only five to seven months to live. He said I needed to find a clinical trial soon.

CAR T cell therapy is currently being evaluated in the clinic at MSK for certain types of leukemia and lymphoma. In this approach, T cells are genetically engineered to recognize a protein called CD19, which is found on the surface of blood cells called B cells. In the largest study reported so far, for adult patients with B cell acute lymphoblastic leukemia — a rapidly progressing form of blood cancer — a report published by MSK researchers last year found that 88 percent of patients responded to the therapy. In late 2014, the US Food and Drug Administration granted MSK Breakthrough Therapy Designation for its CD19 CAR therapy.

Choosing a clinical trial at MD Anderson

During my search, I learned about a Phase II clinical trial at MD Anderson using an experimental drug called AG120. About a week after I applied, Courtney DiNardo, M.D., asked me to travel from my home in Tucson for testing.

Between MD Anderson’s huge campus and the battery of medical tests, our first visit was overwhelming. Yet, when Dr. DiNardo entered the room, she immediately made us feel like we were long-time patients or even friends. She was so cool, young and confident.

Only 24 hours after my spouse and I returned home, Dr. DiNardo called and asked us to return right away. We canceled our holiday plans, packed our motorcoach and arrived in Houston on Dec. 12, 2015.

At MD Anderson, we learned that my MDS had progressed to acute myeloid leukemia (AML). This was shocking, but I felt a strong sense of hope. We were right where we needed to be. People come to MD Anderson from all over the world, and I was grateful to be there with so many other AML patients.

On December 23, I took my first pills for the clinical trial. Then came endless EKGs and every-other-day blood tests to check my blood cell counts.

My amazing AG120 results

Two weeks into the clinical trial, my white cell count was higher than it had been in two years. My spouse and I were amazed.

But the biggest surprise was my blast count. When I’d arrived at MD Anderson, it was at 30% — extremely high. At the end of the first 28-day cycle, it was just 2%, which is normal.

Unlike chemo, which tries to kill the blasts and everything else in the bone marrow, AG120 blocks the mutant IDH1 protein that caused my AML. It allows the blasts to mature properly into normal white cells of the immune system. The bone marrow is no longer crowded out by AML, and the normal red cells and platelets return, too.

I’m now beginning my 12th cycle of AG120, and my blood values, red blood cells, white blood cells and platelets have all reached normal range. I’m in complete remission, but I will continue to take AG120 indefinitely. Whenever Dr. DiNardo’s team asks about side effects, I can’t come up with anything.

I am so grateful and praise God every day for giving me my life back through the AG120 clinical trial.

I used to always say you have to be your own advocate because no one else will. But I was unable to take charge of my cancer until I met Dr. DiNardo. I’ll always remember what she said the day before I enrolled in the clinical trial: “You are in the right place at the right time with the right mutation.”

Take a look at current MDS clinical trials

Patient’s Story: Linda takes part in a clinical trial

I first visited my GP in March 2014 with the symptoms of a condition which was eventually diagnosed as Sideroblastic Anaemia. I was 59 years old, still working full time as a Chartered Accountant, and enjoying a life without any responsibility except for work and home. The Haematology Clinic at the PRU and the Supportive Therapy unit became increasingly familiar to me as I went through an array of tests whilst receiving regular blood transfusions. Eventually, it was determined that I had MDS RCMD.

Read More

Sachiyo Ishii tells us about her mother’s MDS

Sachyio lives in the UK. Her Mum has MDS, but lives in Japan. A few of our members have family far away, and when travel is particularly difficult or expensive it gets really hard. So this is the contribution of one daughter – helping her Mum cope with MDS and helping to raise awareness internationally. Take a look at her brilliant blog full of amazing ideas and gifts.

Read More

Anna Sherratt

Back in August 2015 I was noticing how tired I was. I would sit down in the evening feeling totally exhausted and then castigate myself mentally that I hadn't accomplished everything I had planned to do. Was there something wrong with me?

Read More

Free donations by shopping