By Alexa Lardieri, Deputy US Health Editor Dailymail.Com
03:01 April 11, 2024, updated 03:28 April 11, 2024
A woman with a rare genetic disease that affects 0.03% of people worldwide has developed a tumor so large it looks like a “backpack on her neck”.
Alexandra, 30, from Goppingen, Germany, says the mass – which is benign – is so large that it encompasses 20 percent of her body weight and is almost half her height.
The growth developed gradually over the past two decades, starting in elementary school with a hazelnut-sized bump on his neck.
By the time he was 15, he had grown to the size of a grapefruit.
Now he’s so big hangs from Alexandra’s neck to the top of her thighs and is estimated to weigh 20 pounds.
It’s so heavy on her back that she created a sling to carry the tumor to take some of the weight off.
As the mass grows and becomes heavier, it puts increasing pressure on Alexandra’s throat, making it difficult to breathe and affecting her balance.
The young woman suffers from a rare disease, NF-1 neurofibromatosis, which is incurable and causes the appearance of tumors all over the body, some of which can develop into cancer.
She said on the latest episode of TLC Take my tumor: “Weight is like having a backpack that you can’t carry on your shoulders. It’s only on your neck.
About one in 3,000 people are born with NF-1 neurofibromatosis, also known as von Recklinghausen disease.
The disease is caused by a mutation in a gene called NF-1, which regulates a protein involved in cell growth and is considered a tumor suppressor.
In addition to growths, neurofibromatosis can lead to an abnormally large head, short stature, heart problems, seizures, and learning disabilities.
Alexandra suffers from the same illness as the patient featured on last week’s episode of the TLC show, Charmaine Sahadeo.
The 42-year-old woman from Trinidad suffered from thousands of tumors all over her body, including on her scalp, mouth, face, arms, legs, buttocks, breasts and genital area.
The growths prevented him from breathing through his nose, walking more than a few steps and eating properly.
Although the disease can be passed down from generation to generation, about 30 to 50 percent of people with the disease have no family history.
Alexandra must be be careful when moving and walking because the mass often causes it to lose balance and fall, which can damage the growth.
She said she tries to avoid busy places because even a slight accidental bump against the tumor feels like someone “hitting it with a baseball bat.”
Her father often walks behind her to try to protect her bottom, and it makes it difficult for her to sit, sleep, and wear clothes.
Alexandra said the tumor cost her her independence: she had no job or home and lived with her parents.
Although she would love to wear dresses and necklaces, she has to wear loose clothing to cover the mass and jewelry hurts her neck due to the sensitivity of the skin near the growth.
Alexandra avoided having the tumor removed for fear it would become attached to her spinal cord and its removal could paralyze her. The mass also contains a very large blood supply and she is at risk of life-threatening blood loss during the operation.
Six doctors told him they couldn’t remove it.
She said: “I just thought it was hopeless. Nobody can help me.
However, Alexandra discovered Dr. Ryan Osborne, a Los Angeles-based head and neck surgical oncologist and director of the Osborne Head and Neck Institute. She and her parents traveled 5,700 miles in hopes he would have an answer.
Alexandra said: “For me, it’s almost like I want to hear a doctor say ‘I think I can help you.’ I think I can remove the tumor after the operation.
“I found hope again.”
Dr. Osborne described its growth as a “cape” and said he had “never seen (a tumor) grow like this.”
The surgeon added that the mass had become so large that Alexandra could no longer delay the procedure, but that it would be risky because of the amount of blood injected into the tumor.
Because of its size, removing the tumor would be like cutting off an arm, Dr. Osborne said, and could lead to fatal blood loss.
To combat this, Dr Osborne and his team suspended the tumor above the operating table and applied a tourniquet to cut off blood flow.
During the six-hour surgery, the medical team managed to control the blood loss and managed to remove the entire growth, leaving Alexandra with a scar just a few centimeters long.
Returning to Germany 12 weeks later, Alexandra went shopping for dresses she could wear now that she was no longer subject to overwhelming growth.
She said: “I feel so much joy now. It’s better than I ever imagined. I imagined what it would be like without my tumor and it’s so much better than in my dreams. I am so happy to have a normal neck.
She said there was immediate relief without the weight, adding that she now feels pretty and “like a princess”.
The same episode of the new TLC show also featured Claudia, a 50-year-old woman from Houston, Texas, who has had an “avocado” growing on her butt for over a decade.
The supermarket worker first noticed a lump on her butt about 10 years ago, when it was the size of a golf ball.
Now, Claudia said it looks like a rotten avocado – soft with a hardened “pit” in the center.
Despite its growth over the years, Claudia said she avoided having the lump examined because she was afraid of what doctors would find, fearing it could be cancer.
Claudia’s growth is a soft tissue mass. These common masses are cellular growths that can appear anywhere on the body.
They can grow slowly or quickly, be round, oval or sausage-shaped and are generally non-cancerous – about 99 percent of the time.
The causes vary, but evidence suggests that certain genetic disorders and mutations predispose people to developing the masses.
There is often no clear cause, although other possibilities include injuries, infections and lifestyle factors.
Some benign growths may not need to be removed, while larger or more painful growths may be removed surgically. Not all soft tissue masses cause pain, and it usually depends on their location.
Since Claudia’s is on her butt, she has difficulty sitting, driving and dressing.
She said on the TLC show that she had to buy clothes in a larger size in order to fit them, then readjust the size of her underwear and pants to make them comfortable.
Claudia works two jobs to distract her from growing up, but as her family and friends increasingly insist that the situation be looked into, Claudia discovered Dr. Jason Cohen, a surgical oncologist in Los Angeles.
She said: “It’s been an emotional roller coaster for quite a while. I need to get my life and my health back.
Claudia traveled to California to meet with Dr. Cohen, who said the soft tissue mass was in a usual location that could pose a healing problem, with up to a 30% chance of a postoperative complication.
However, he was still confident he could remove it safely.
The surgeon said: “Patients come to me because I am cautious, but I am confident. I’m not going to abandon you. I’ll be there for you and together we’ll find out what’s going on.
After removing the lump, it would be sent for tests to see if it was cancerous.
Although Claudia was excited that Dr. Cohen could remove it, she was still nervous about the anesthesia and the recovery process.
But in just an hour, the doctor managed to remove the entire growth, which he described as an “ice cream cone” because it was deeper than expected, and subsequent tests showed it was benign .
Returning to Texas four weeks later, Claudia said she had experienced a “great improvement” in her life now that Mass was gone. Her recovery went better than expected and she no longer had pain when sitting, driving or dressing – and was able to buy smaller clothes.
She said: “Without that growth, I feel a lot better about myself and that was a big deal for me.”
Even though she’s not ready to date yet, Claudia is excited about the future now that she no longer has to be self-conscious about her size.
She said: “I don’t have to worry about anything else, I just get on with my life.”
Take my tumor airs Wednesdays at 10/9c on TLC.
News Source : www.dailymail.co.uk
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