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Hey
I’m reaching out with a story that’s extremely close to my heart and a call to action that’s a bit hair-raising—literally!
I’m going to shave my hair off to raise funds for research into Loeys-Dietz Syndrome (LDS). It’s a rare condition that has deeply impacted my family, and I want to share our journey, spread awareness, and, most importantly, help drive forward vital research.
What is Loeys-Dietz Syndrome ⁉️
Loeys-Dietz Syndrome is a genetic disorder that affects all the connective tissue throughout the body, often leading to life-threatening heart complications such as aneurysms/ dissections in the aorta
& within other arteries throughout the body due to abnormal twists and turns (arterial tortuosity). They also experience musculoskeletal deformities,skin and gastrointestinal problems.
Since its discovery in 2006, there’s still so much we don’t know. Many living with LDS go undiagnosed, with the condition often misdiagnosed to more common ailments, dramatically reducing their life expectancy. There is thought to be around 12,000 people with Marfans (similar syndrome) or Loeys Dietz undiagnosed.
Our Journey with Loeys-Dietz
Wayne was a healthy child but had subtle signs:
✅ Joint pain
✅ Crowded teeth
✅ Chest wall abnormality (pectus carinatum)
✅ Hyper mobility
By his 20’s he was living with chronic pain, fatigue, joint subluxations, chest & upper back pain,palpitations & flu-like flare ups.
It was dismissed as fibromyalgia for which he attended pain management courses but to no avail.
As his symptoms worsened, I knew we needed more answers & stumbled across Marfans & Loeys - Dietz for which he ticked many of the boxes.
On April 17, 2024, I booked him in for a private echocardiogram (ultra sound of the heart) as our request with the NHS was dismissed.
That day changed our lives. He was diagnosed with a massive aortic aneurysm that required immediate surgery -surgery that, without swift action, would have been fatal. Six weeks in the hospital and two surgeries later, genetic testing confirmed that he had Loeys-Dietz Syndrome.
Our world shifted again when we discovered our daughter Mahri (now 3yrs old) also has LDS!
Why This Matters
There is no cure for Loeys-Dietz, but close monitoring—through regular MRIs, MRAs, and echocardiograms—can help catch dangerous complications early.
Yet, most general practitioners have never even heard of it, leaving countless individuals undiagnosed and at risk.
Without proper management, their chances of surviving past their 30s are very slim.
We want to change that!
By raising awareness, we can help others recognize the symptoms early and seek the necessary checks and treatments and also to spread awareness to medical professionals to help them spot the signs.
Why I’m Shaving My Hair
As a hairdresser, my hair is a huge part of my identity. So, what would make people sit up and take notice? Shaving it all off!
My goal is to raise £6,000 —once achieved, the clippers are coming out (and yes, I’ll film it) EDIT ✍️ NOW IV HIT THIS TARGET - THE DATE IS SET FOR 1st JUNE!
My new goal is to raise 10k by this date
Where Your Donations Will Go:
Every penny will make a difference:
• £6,000 to the Marfan Trust for:
1️⃣Aortic Research – Funding vital studies to improve early detection, monitoring, and treatment of life-threatening aneurysms and dissections in people with Loeys-Dietz Syndrome.
2️⃣ Targeted Awareness for Medical Professionals – Educating GPs, optometrists, dentists, physiotherapists, and other frontline healthcare workers to recognize the early signs of LDS. These professionals are often the first point of contact for undiagnosed patients—helping them connect the dots sooner could save countless lives.
. My hair: will be donated to The litttle princess trust
• Anything over £6,000 will be split between The Marfan Trust, Heartbeat house, Friends of PICU, and a small medical fund for Wayne & Mahri.
It’s a big step for me, but it’s nothing compared to what my partner and daughter go through every day. If shaving my hair can help fund research, spread awareness, and more importantly SAVE LIVES, then it’s worth every strand!
Please donate, share this page, and help us turn this hair-raising event into a life-saving cause. Every contribution counts, and together, we can help rewrite the story of Loeys-Dietz Syndrome for future generations.
Thank you from the bottom of my heart (and soon, the top of my head!).
Amy Xx
Below are some Signs & symptoms of LDS (and also some other connective tissue diseases eg EDS, Marfans). It is extremely rare to have all the symptoms and often only have a few.
- hyper mobile joints - legs & arms that boe or bend backwards at the knees/ elbows.
- joint dislocations or subluxations
* Ligament laxity.
- hyper mobile fingers & wrists - fingers that bend upwards, double jointed.
* Often long slender fingers.
* Contractures of the fingers (tight ligaments)
- attached earlobes (attach to the head rather than dangle like a usual earlobe)
- scoliosis or spondylolisthesis kyphosis cervical spine malformations/instability dural ectasia.
- CSF Leak
- arm span greater than the length of your body
- over crowded teeth
- high arch palette - high arch at the roof of your mouth sometimes with a groove through the middle that can be a sign of mild cleft palette.
️ - wide or bifid uvula - a wide uvula (the little bit that hangs down in the back of your mouth) or one that splits down the middle creating a double looking uvula.
- flat feet- quite often with ankles rolled in.
* Hammer toes or long toes
- aortic root aneurysm/dissection arterial aneurysm/dissection arterial tortuosity early occlusive disease
* congenital heart defects such as
patent ductus arteriosus (PDA), atrial or ventricular septal defect (ASD/VSD) and bicuspid aortic valve (BAV) mitral valve prolapse
* palpitations, mild chest pains that can feel ‘stitch like’
- born with a foot deformity such as club foot
-inflammatory bowel disease or IBS
-Food allergies
-spontaneous lung collapse
* Hollow organ rupture
- chronic bone, joint & muscle pain or osteoarthritis.
- chronic fatigue & insomnia
- frequent flu-like flare ups with no explanation
- thin translucent skin, soft or ‘velvety’ skin.
* quite often with very visible veins.
* Easy bruising which hand about for a long time.
- scars that don’t heal well and can look wide or like very thin paper.
- pectus excavatum/carinatum - a chest wall deformity where your chest sinks in or protrudes out.
️ -short sightenedness
Eye muscle disorders.
* retinal detachment
* Blue sclera (blue hue within the white of your eye)
* Hyperthermia (widely spaced eyes)
* Slight downward slant to the eyes
- early fusion of the skull bones)
* Small or receding chin
Organizer
Amy Fletcher
Organizer