My incurable disease

On 1st September – we had a small end-user consultation session for the Wellcome Trust Application organised by UCL/Kings College clinical partners at the Institute of Child Health close to Great Ormond Street by Russell Square. The aims were to provide information on a possible new treatment approach to sickle cell anemia called the In-utero transplantation & Fetal Gene Therapy and also answer questions/ get feedback on:

  • the concept of the fetal stem cell gene therapy approach
  • possible clinical trial
  • ethical concerns related to the approach
  • how they would want to engage in the grant and practicalities
  • to improve chances of WT funding and MHRA approval in future.

I work part-time, one day a week for the UK Sickle Cell Society, a charity that supports people living with sickle cell anaemia. I am the Volunteer Co-ordinator.

My role was to facilitate the attendance of about 8-10 patients who had attended the Annual General Meeting(AGM) of the Sickle Cell Society, earlier in the summer. The event was very much geared to obtain feedback (as much as possible) from these specific patients. You see, those patients who had attended the AGM had prior context and some background around the topic as Dr Stavros had introduced and presented the subject at the AGM. I succeeded in recruiting 8 people who also happen to be friends of mine. However, due to personal commitments and sickness, only 4 of us could attend.

The event started at 5:30pm which was great as I left Cockfosters on the Piccadilly line after work directly to R. Square.

There was light meals & refreshments before the meeting and wine/snacks after, which was nice. We also got refunds for our travel expenses.

We had 4 incredible clinicians address us:

  • Dr Michael Antoniou, Gene Expression and Therapy Group, King’s College London, Faculty of Life Sciences & Medicine, Department of Medical and Molecular Genetics.
  • Dr Stavros Loukogeorgakis – (he presented at the AGM earlier in the summer) and oops, I forgot his title!! I think he is a Peadiatric Surgeon.
  • Dr Anna David- Consultant in Obstetrics and Maternal/Fetal, Medicine at UCL Hospitals and Reader at the UCL Institute, for Women’s Health. (Basically, she is a specialist in Fetal Medicine and Pregnancy).
  • Professor Paola De Coppi- Consultant Paediatric Surgeon at Great Ormond Street Hospital, and Professor of Paediatric Surgery at the UCL Institute of Child Health in London (I recall he was in surgery and arrived later. My immediate thought was- how normal it was for these wonderful and sophisticated minds to carry out invasive surgeries one minute and then stand in front of an audience a minute after (quite untraumatised and unperturbed I must add). The sight alone of watching my sister give birth to her first child and the amount of blood around literally made me pass out! I am not lying. I am too sqeamish! Took weeks to recover!

Anyway, We were told this trial had happened in Milan. Basically in my own language, Bone marrow transplant (the only known and tested cure for sickle cell) works when you extract the bone marrow, genetically correct them and then put them back. It’s rarely successful and has been reported to be life threatening with high evidence of mortalities. No, thanks!

 In fetal gene therapy, it’s easier and cheaper to administer anywhere in the world. It reduces the problems around screening. This procedure requires sophisticated infrastructure. They basically treat the foetus in the womb, safely in the amniotic fluids; before its born. It is one of the most advanced discoveries in medicine to date. The clinicians discussed risks, challenges, and the safety of this procedure. It was very re-assuring as they answered 99% of questions and when they were not sure, they admittedly accepted, reassuring us they can come back to us with an answer. 

The challenge is to get resources to move to the clinical trial level and they reported this had become a very timely co-incidence for the possibility of the WT application.

My role and those of other patients?? To provide an endorsement from sickle patients to these wonderful clinicians to pursue the approach. If that’s what it takes to give them the go ahead to make a global impact, I would be willing to contribute my kidneys.

We went away thinking of the 3 concepts or principles which they sought to achieve:

  • Confidence of the treatment 
  • Involvement of patients
  • Obtaining the grant and how they engage with us.

Basically, if they succeed in getting this treatment around the world within this, or the next generation, these guys have made a major global impact of an incurable disease that has existed since the 17th C.

I have hope…I was elated. I want to be a part of this legacy, a part of this change. This is why I support the cause. I, people living with this debilitating sickness have suffered incredibly. It would be great to not have future generations suffer further.

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