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

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.

“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.

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.

Suzie was 5 years old when she became unwell. She developed a really high temperature and chesty cough so we thought it was just a normal childhood virus. We presented her to out local GP and he prescribed antibiotics.

However, she continued to spike high temperatures so we took her back to the GP I told the GP that I was worried about how pale she had become over the last couple of days so he sent her for a blood test. I asked the doctor if I should take her straight way but he said she should be ok to go tomorrow.

After a year of tests the consultant spoke with a colleague who works in adult haematology and they concluded that Suzie had RAEB 1 (Refractory Anaemia with Excess Blasts) which is a form of MDS.

The only way to treat this effectively was with a bone marrow transplant. Suzie started to present with symptoms that suggested that her bone marrow was becoming unstable and she was at risk of developing leukaemia.

Suzie received transplant on 20th July 2012 from an unrelated donor from Germany. Suzie became critically ill during her transplant and spent her 7th Birthday in intensive care.

From diagnosis through to treatment there was very little information and support for us as a family, RAEB 1 is normally found in adults over 70. All the research that is online is very outdated and very little reference is made to children with MDS.

Suzie’s recovery was slow, she lost a quarter of her body weight and at one point she weighed less than three stone at he age of 7. At times we struggled to understand and get answers and although there were children receiving transplants for other conditions, there was no one with MDS.

Our lives changed almost overnight and it is hard to sometimes think back to those days because life was unbearable for us all.

However, Suzie did not cry once during her 9 week stay in hospital, she had to endure constant vomiting and stomach pain, her nasal tube would often have to be reinserted and she never once cried and just got on with it.

It would have made life a little easier if we could have spoken to a family who had been through a similar journey but for us the experience was isolating.

Suzie missed so much of her primary education and she struggled academically, she has worked so hard to catch up and is now working above expected levels for her age.

Suzie is now 13 years old and is part of a dance group, theatre group at school and enjoys being active and especially loves gymnastics. Her journey is one that I will be sharing via a book which I hope will raise some funds for the MDS foundation.

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.

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

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.

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.

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.

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.

My MDS story unusually starts some years before diagnosis. In about 2006 or thereabouts, my sister was diagnosed with MDS.