My life-changing diagnosis

At the time this personal story was written, Georgie Windsor was a university student.  She has since graduated and works facilitating patient-led rare disease research. It is hard to imagine that from early childhood, she suffered from a variety of debilitating health problems, which left her bedbound before the age of 20. She shares her story of the lifechanging diagnosis of Ehlers-Danlos Syndrome, which led to help for family members, too.

Excerpt from Breakspear Medical Bulletin Issue 50:

Hi, I’m Georgie and I’m 22 years old

I’m a student at Cambridge University, a YouTuber, writer, dancer, and lover of the outdoors. However, if you had met me two years ago you would not have even recognised me.

While growing up, I suffered from a variety of seemingly unrelated health problems. As a young gymnast, I was exceedingly flexible with hypermobile joints. I also struggled with food intolerances and related symptoms. Since I was a baby, I’ve been unable to digest milk properly. As I grew older, I started to experience more and more symptoms, particularly impacting my digestion, and causing severe fatigue, joint problems, sporadic fainting episodes, and frequent illnesses. Throughout school, I managed to just about get by, but I always looked to my friends and wondered why they could walk further, stay out later, and were not always in chronic pain.

My childhood symptoms

Since I was about seven years old, I have visited a lot of doctors, who were mostly dismissive of my symptoms. Blood tests revealed sporadic anemia (low red blood cell count), systemic inflammation, and a lymphocyte count that was chronically low, but no explanation for this could be offered. (Lymphocytes are white blood cells that are also one of the body’s main types of immune cells.) A gastrointestinal specialist diagnosed me with irritable bowel syndrome (IBS) and recommended a low FODMAP diet, which involves lowering intake of certain sugars that may cause intestinal distress, but this did not help my symptoms at all. Other than that, my symptoms remained a mystery and only continued to get worse over time.

At the age of 20, I had a huge health crash, which left me bedbound and unable to mentally process the world around me, shower or complete daily tasks unassisted. Upon standing, or even sitting, my heart rate spiked to over 200 beats per minute. I could not keep food down and I was reacting to all but about five foods.

After eating, my tongue would swell and my blood pressure would drop, which would cause me to pass out. My fatigue and pain levels were dreadful, and my joints started dislocating. Furthermore, I woke up every day with a severe headache, swollen lymph nodes and ‘viral’ symptoms.

I remember my 21st birthday as one of the most miserable moments of my life. Too exhausted and unwell to even interact with my family, I spent it alone in a dark room, wondering if I would ever get better. I felt truly hopeless and that my illness had taken my entire life away from me. I could not work, study, read, walk, or do any of the things I would usually enjoy. I could not even connect with the people I loved because the cognitive strain of doing that would be too exhausting.

At this point, I had no proper diagnosis other than the loose titles of IBS, migraine and then Functional Neurological Disorder (FND). I was left without an answer that accurately explained all my symptoms and was prescribed psychotherapy and physiotherapy.

The mental health side of my illness had become difficult to manage, as I did not feel I was being believed and was experiencing doubt, but also outright neglect at the hands of several doctors. I began to question my own experience, despite the debilitating array of symptoms I was suffering.

Then I visited Breakspear Medical

Soon after turning 21, I visited Breakspear Medical for the first time. My father found the clinic online while researching a possible Lyme disease connection to my illness. My parents practically carried me in and I do not even remember much of my first meeting with my doctor. However, within 20 minutes, she changed my life forever. Finally, we began to understand my illness.

I was diagnosed with Ehlers-Danlos Syndrome (EDS), a genetic connective tissue disorder. Additionally, my tests revealed nutritional deficiencies and gut problems, including an
infection and candida overgrowth, and ME/CFS. I also had multiple sensitivities to foods, medications, additives, food colourants and chemicals. I had several ongoing viral infections, which had to be treated twice with antiviral therapy. It was also recommended that I see a cardiologist, who later diagnosed me with postural tachycardia syndrome (PoTS), which affects my heart rate and nervous system after sitting up or standing. Together, these diagnoses explained my symptoms.

Pursuing private treatment was a huge decision for my family. Growing up with a national health service, I felt guilty with the expense in the beginning, particularly after being
told by so many doctors that visiting a private clinic was pointless and a potentially dangerous pursuit. If only I had known how much the expertise, knowledge and care would
transform my life.

I began low-dose immunotherapy to address my sensitivities and targeted nutritional treatment, including infusions and supplementation. It took a while for my body to begin
healing, as there was a lot to target, but gradually, I regained my health. Along the way, I passed the milestones of being able again to enjoy reading, to walk unassisted, to stay
awake for longer than a few hours, and to reintroduce more and more foods into my diet.

The knowledge I gained at Breakspear Medical not only transformed my life, it also changed the lives of loved ones around me. After my diagnosis, it turned out that many of my family members also had EDS, after years of struggling with unexplained symptoms.

Getting on with life

I am now studying at Cambridge University, specialising in Human Evolutionary Genetics, Health and Disease. For me, getting to Cambridge was a dream come true. And thanks
to Breakspear Medical, I have been able to pursue my degree and I hope to change the world one day by pursuing research into epigenetics (the study of how your behaviour
and environment can cause changes that affect the way your genes work) and environmental illness.

Nearly two years after first visiting Breakspear Medical, I still have a few symptoms, I am in almost full remission from my ME/CFS, PoTS, and my allergy-related illness is now mild
compared to before. I am very functional and pursue the things I love, which at one time, I never thought would be possible again.

The truth is that without the help of the fantastic Breakspear Medical team and their expertise, I do not know where I’d be. I am forever grateful for their help.

________

Update on Georgie’s story

Georgie contacted us to let us know that she’s graduated from university and is now working facilitating patient-led rare disease research and is loving her job.

She added, “I’m always so grateful to the entire team at Breakspear Medical for how far I’ve come.”