A VIDEO shows the incredible transformation of a woman with a rare genetic disease that caused a “cape-like” tumour to grow out of her neck down her back.
Alexandra, 30, from Goppingen, Germany, said she felt “like a princess” after having the massive growth removed.
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What started off as a “hazelnut” sized lump on the back of her neck when she was in primary school gradually grew to the size of a “watermelon” over the years.
Alexandra said the mass grew to nearly half her height and made up 20 per cent of her body weight – leaving her feeling like she had a “back pack” on her neck.
Though it was benign – meaning non-cancerous – the tumour made it challenging for Alexandra to move, get dressed and live a normal life.
As it swung around with every movement she made, she was forced to wear a sling to bear some of its weight.
“The tumour usually moves in another direction that the other parts of my body and that makes me fall down or lose my balance,” she told TLC‘s Take My Tumor.
Alexandra suffers from a rare condition called NF-1 neurofibromatosis, which causes benign tumours to form on nerve tissue.
The condition is caused by a mutation to the NF-1 gene, which regulates a protein involved in cell growth and is thought be a tumour suppressor.
It’s estimated that one in 3,000 people across the world have this mutation.
“When the tumour started growing, it had the size of a hazelnut in primary school,” Alexandra said.
“When I was 15 years old, it was as big as a grapefruit,” she added.
By the time she reached 30, the tumour weighed about 20 pounds and hung from her neck all the way to the tops of her thighs.
Aside from affecting her balance, the heaviness of the tumour began placing pressure on Alexandra’s throat, making it difficult for her to breathe.
She also had to be careful moving around crowded spaces, as the smallest jostle against the sensitive skin of her tumour felt like someone was “hitting it with a baseball bat”.
“It’s very hard for me, it makes me feel shy because the tumour is so big now,” Alexandra said, adding that she felt she need to cover her “whole body”.
Having the tumour hanging down her back also cost the 30-year-old her independence.
“I’m an adult now, but I still don’t have my own life because of the tumour,” she told TLC.
“I don’t have my own house, I don’t have a job”.
Over the years, six doctors told Alexandra they wouldn’t be able to remove it as the mass had very large blood vessels running through it, meaning she risked suffering life-threatening blood loss during surgery.
She said: “I just thought it was hopeless. There is nobody who can help me.”
What is Neurofibromatosis type 1?
NEUROFIBROMATOSIS type 1 (NF1) is a genetic condition that causes tumours to grow along your nerves.
The tumours are usually non-cancerous, but may cause a range of symptoms.
It’s a condition that’s inherited through genes – if your parent has a mutation to their NF1 gene, you have a 50 per cent chance of developing it.
Symptoms tend to develop gradually over the years and their severity varies from person to person.
In most cases, the skin is affected, causing symptoms such as:
- Birthmarks known as café au lait spots, which are light or dark brown patches that can be anywhere on the body
- Soft, non-cancerous tumours on or under the skin (neurofibromas)
- Clusters of freckles in unusual places – such as the armpits, groin and under the breast
- Problems with the bones, eyes and nervous system
Around 15 per cent of children with NF1 develop a tumour on their optic pathway, which can cause vision problems.
Some children with the condition also have high blood pressure.
Many children with NF1 have one or more problems affecting their physical development, including:
- A curved spine (scoliosis) – thought to affect around 10 per cent of children with NF1
- A larger-than-average head – this occurs in around half of all children
- Smaller size and lower weight than normal – this is common in many people with NF1
Neurofibromatosis type 2 is much less common than NF1 and caused separate symptoms.
Source: NHS
Alexandra’s hopes were re-awakened when she got in touch with Dr Ryan Osborne, a Los Angeles-based head and neck surgical oncologist and director of the Osborne Head and Neck Institute.
She travelled from Germany with her parents to consult with him about removing the growth from her neck.
Dr Osborne said he’d “never seen [a tumour] grow in this manner”, describing it as a “a cape”, and stressed that Alexandra shouldn’t delay surgery any longer due to its size.
But he emphasised how risky the procedure would be due how much blood was being fed into the tumour.
I imagined how might it be without the tumour and it’s so much better than in my dreams
Alexandra, 30
He said cutting off the tumour would be like removing an arm in terms of the blood loss it could cause.
“If you lose a significant amount of blood immediately, that becomes a shock to the body and I don’t know how much blood could be in there,” the surgeon explained.
To minimise blood loss, Dr Osborne and his team decided to suspend the tumour above the operating table, raising it above the level of her heart and making it harder for blood to be pumped into it.
Surgeons also wrapped surgical tape around the tumour is a tourniquet-like technique to “squeeze some of the blood out”.
The team were able to limit blood loss and remove the entire growth during six hours of surgery.
All Alexandra was left with was a scar running from her neck to her collar bone.
“I imagined how might it be without the tumour and it’s so much better than in my dreams,” she said.
“After surgery I woke up and I immediately [felt] better,” Alexandra added, saying she was “so happy to be rid” of it.
“I just pull the clothes over my head and that’s done, I’m dressed,” she gushed.
Back home twelve weeks post op, Alexandra went shopping for the dresses she’s yearned to wear over years.
Trying on a floor-length purple gown she exclaimed that she felt “like a princess”.
“I feel so much joy now,” Alexandra said.
She’s not the first NF-1 neurofibromatosis sufferer to appear on Take My Tumor.
Charmaine Sahadeo, 43, from Trinidad, suffered from an exceptionally severe case of the condition, which she inherited from her mum.
She underwent undergoing 60 hours of surgery to remove thousands of bubble-like growths coating her face, scalp, body and limbs, declaring that she felt “beautiful” afterwards.
Read more on the Scottish Sun
A more recent episode of the show documented the transformation of Tim, 62, whose “little pimple” grew into watermelon-sized tumour that hung off his jaw.
The growth was so large it made Tim feel like his face was “ripping”.
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