Michael’s Story

South London Genomic Medicine Centre

Space satellite engineer Michael Loweth, 38, had never been given a precise diagnosis to explain why he stopped growing when he was 4ft 2in. He is seeking the answer as part of the 100,000 Genomes Project.

 

Having a diagnosis didn’t cross my mind until I was asked for it on a job application form. My specialist, who I had seen once a year for nearly all my life, hadn’t encountered anyone like me or my brother before. He said what we have may be unique, but he put me in touch with Dr Melita Irving, Consultant Clinical Geneticist at Guy’s and St Thomas’, for a genetic diagnosis. After earlier consultations Dr Irving contacted me about the 100,000 Genomes Project. It seemed like a great chance, so I thought, ‘Why not?’. It will be a nice answer to have – like any other question – but one that will also be useful for the wider scientific understanding. As a scientist and an engineer, that’s important to me. The answers won’t change my life, but they might help other people in the future.

Participant- Michael Story

From my perspective, if someone has a similar issue, I hope that my family and I can show that it won’t ruin your life, and in fact it will provide some strange and wonderful opportunities. One of the biggest things my height has taught me is a degree of independence. I problem-solve in everyday life. When I was young, and starting to ask questions, our doctor said to my parents, “You’ve got to make a choice. Do you mollycoddle and protect your sons, or do you let them get on with life?”. My parents agreed they would treat me just like everybody else. It’s what made me have to learn my way. That’s been an important process – learning where my advantages lie and how to use them, how to minimise the disadvantages, and how to solve my own problems. I’m eternally grateful to my parents for doing that, and to the doctor who pointed it out.

 

The lessons I learned have shown me that my height is not a problem to be solved. Being taller could be useful but then I wouldn’t be me. I’ve coxed at Henley, white water kayaked down Welsh rivers, jumped out of planes on a parachute, worked at NASA, scuba dived in Turkey, and met astronauts and billionaires. I’ve been inspired and I’ve inspired others. I’ve had so many amazing experiences that I know my life has very few limits and some great challenges which I always try to face head-on.

 

Learn more about how the 100,000 Genomes project is helping patients like Michael find answers.

The answers won’t change my life, but they might help other people in the future

With any Whole Genome Sequencing (WGS) test ordered, a Record of Discussion (RoD) form will also need to be submitted. This document is to record the patient’s consent for genomic testing and their choice on taking part in research. Guidance on the patient choice conversation can be found here
 
This RoD form will be available for clinicians to download from this webpage. Once completed with the patient, it can be send to the lab with the corresponding test order form and sample.
Tests available to order will be listed in the National Genomic Test Directory. A test order form will soon be made available for clinicians on this webpage to download and complete. This form will include the address of the laboratory that the appropriate sample and completed form needs to be sent to.
 
Until the new Genomic Laboratory Service goes live, please continue to follow existing test order processes.
 
Later this year, the online test ordering tool for Whole Genome Sequencing will be integrated into the National Genomics Informatics System (NGIS) and clinicians will be able to search or filter to find a clinical indication, confirm eligibility criteria and start the test request process for their patient.