Woman Feels Like She's 'Burning Alive' Because Of Rare Skin Condition Erythromelalgia | HuffPost Life

Woman's Rare Condition Makes Her Feel Like She's 'Burning Alive'

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A woman has been left housebound due to a rare genetic condition which makes her feel like she's burning alive.

Samara Rose Ingraffia, 25, suffers from erythromelalgia or 'Man on Fire syndrome', which leaves her feeling like she is experiencing constant second degree burns.

She also suffers from Raynaud's disease, an equally rare health condition that means her body reacts dramatically to the slightest drop in temperature.

Samara said: "I don’t know what the worst part of this condition would be. It affects everything in my life. It’s all-consuming and it’s just maddening to be constantly burning alive – it’s hell on earth."

Samara Rose Ingraffia

To lead anything like a normal life, Samara can only be exposed to a temperature of 17 degrees Celsius, as anything higher or lower will lead to pain and suffering.

Her father Brian is a former college professor who is also housebound with the same two conditions.

He said: "Knowing that my daughter has to go through even more pain than me is absolutely heartbreaking.

"Between the two of us we’ve tried every treatment that’s been used for erythromelalgia but we have found absolutely nothing that helps.

"There is nothing that lessens the flare ups and absolutely nothing that can help lessen the pain."

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Samara developed the condition aged nine but it took years to get a diagnosis after the family visited more than 100 doctors looking for help.

Traditional education soon became impossible for Samara because of the heat in the classrooms so she had to be homeschooled - leading her to become very isolated.

Samara said: “It’s really hard to remember what my life was like before this.

“When I was a kid, before this started, I used to be outside all the time. I was born with black hair and then I was in the sun so much I had basically blonde hair when I was a toddler.

“I have definitely missed out on life a lot, it’s so hard to imagine what normal life is like. It’s been so long.”

Her father Brian, 53, has had to conduct his own research into the condition. He said: "Whenever there’s a slight increase in warmth the body massively overreacts and floods blood to the skin, the blood then gets stuck in the skin which leads to horrific nerve pain.

"Whenever someone with Raynaud's is exposed to cooler temperatures the blood withdraws from the skin, causing a sort of numb kind of burning.

"When I get into temperatures above 62/63 degrees Fahrenheit especially if I do any sort of movement it feels like I’m in an oven."

Samara Rose Ingraffia with her parents Brian and Ariella

Samara’s mother Ariella, 58, works in California to support the family but spends 10 days per month in Michigan looking after Samara and her father.

She said: "Samara can groom herself and clean herself but I have to do an awful lot for them both. All of their food has to be microwaved because they can’t be near an oven.

"It’s hard to think of them going through so much – I often get very upset just thinking about how much of her life she has missed out on."

The family has been desperately trying to find a cure for Samara and Brian, but to no avail.

Samara said: "I did get my hopes up when we were looking into stem cell therapy but it is insanely expensive costing around $60,000.

"There’s certainly no guarantee but it seems the most promising. But who has that kind of money? It really helps if you’re rich when you’re sick."

21 Rare Diseases

Stiff Person Syndrome(01 of21)

People who suffer from this acquired neurological disorder experience repeated, often painful, muscle spasms as well as muscular rigidity and stiffness. According to the National Organization of Rare Diseases, spasms can occur at random or they can be caused by something as seemingly benign as light physical contact or an unexpected noise. The cause of Stiff Person Syndrome isn't yet known, but symptoms can be stabilized with medication. Left untreated, however, a person can lose the ability to walk.

Gigantism(02 of21)

This disease, which according to the NIH is most often caused by a begnin tumor in the pituitary gland, results in an excess of GH, or growth hormone. This causes sufferers to grow abnormally large, not just in terms of height, weight but also organ size. It results in complications like delayed puberty, increased sweating, and secretion of breast milk.

Pica(03 of21)

Characterized as an eating disorder, Pica causes people to eat what the National Organization for Rare Disorders describes as "non-nutritive" things. That umbrella term can include (but isn't limited to) dirt, clay, paper, and paint. Interestingly, it's not unusual for young kids to experience transient pica as a kind of phase, and pregnant women are also known to develop temporary pica cravings. The cause? Unknown. But in order to be diagnosed with full-blown Pica, a person's symptoms must last for more than a month.

Maple Syrup Urine Disease(04 of21)

MSUD, which is passed down through families, is a life-threatening metabolic disorder passed down through families that stems from the body's inability to process certain amino acids, leading to a build-up of them in the body. According to the NIH, symptoms usually surface in early infancy and can include vomiting, lack of energy, seizures, and developmental delays. MSUD takes its name from another symptom -- the urine in affected infants smells like caramel or maple syrup.

Situs Inversus(05 of21)

Situs Inversus is a congential condition in which internal organs of stomach and chest lie in mirror image of their normal body position -- something many sufferers aren't aware of until they seek medical help for an unrelated problem. People with Situs Inversus typically wear some form of identification to help doctors in the case of a medical emergency.

Trigger Thumb(06 of21)

Trigger thumb, or trigger finger as it's sometimes known, causes a person's finger or thumb to get caught in a locked position. According to the Mayo Clinic, it can then stay stuck or straighten with a painful "snap." The cause? It depends. Trigger Thumb is the result of a narrowing of the sheath around the tendon in the problem figure, but that can be caused by a lot of things, including any activity that requires people to grip things frequently. Trigger Thumb is also more frequent in women.

Scurvy(07 of21)

Once the disease of sailors and pirates, scurvy does still exist in the United States, though predominantly in older, malnourished adults. It usually stems from a Vitamin C deficiency, which can result in gum disease, skin leisons, and swelling of the joints. (credit:Getty )

Wilson's Disease(08 of21)

This progressive genetic disorder causes sufferers to store excess copper in tissues, including the brain and liver. Though the Mayo Clinic says that the body depends on copper in order to use iron and sugar, too much of it in the body can have real consequences. Which is why sufferers of Wilson's Disease are prone to liver failure.

Foreign Accent Syndrome(09 of21)

According to researchers at the University of Texas at Dallas, this speech disorder causes people to experience a sudden shift in their accents and though it is known to be caused by things like brain trauma, conversion disorder, or multiple sclerosis, an exact reason behind the syndrome is unknown. Sufferers of FAS dramatically shift their speech in terms of timing and intonation, which often causes them to sound foreign, but they remain totally comprehensible. Documented accent shifts include from American English to British and from British to French.

Carcinoid Syndrome(10 of21)

According to the National Organization of Rare Diseases, about 10 percent of people with carcinoid tumors -- which the Mayo Clinic says are slow growing tumors that produce excess serotonin and usually appear in the gastrointestinal tract or lungs -- get this syndrome. It occurs only in patients whose tumors have metastasized to the liver. The symptoms? Wheezing, hotness, and extreme facial blushing.

Cyclic Vomiting Syndrome(11 of21)

Children and adults afflicted with CVS experience recurrent episodes of severe vomiting, which can last for days, followed by sudden periods of no vomiting. While kids are likely to experience more frequent attacks, adults's often last longer. To date, the cause of CVS is unknown.

Peeling Skin Syndrome(12 of21)

This obscure, genetic skin disorder does exactly what its name implies: causes sufferers to experience constant shedding of their skin. (In some patients, peeling is limited to the feet and hands.) Along with that, sufferers often feel itching and redness -- symptoms that can appear from birth or develop later in life. Although the exact cause is unknown, a mutation in the TGM5 gene has been identified in many sufferers.

Platelet Storage Pool Deficiency(13 of21)

This is a blanket designation for several rare platelet abnormalities, most of which lead to mild or moderate bleeding disorders. According to the NIH, the problem stems having limited granules -- the parts of platelets that, among other things, store ADP -- the energy released when a molecular bond is broken. That reduction in storage space inhibits the platelets' ability to secrete ADP in a speedy fashion, which is thought to be what causes the bleeding. Classic symptoms of a Platelet Storage Pool Deficiency are nosebleeds, excessive bruising, and profuse bleeding in surgery.·

ACDC(14 of21)

Only nine people in the United States are known to have this disease, which was just given a name in a recent study in the New England Journal of Medicine. ACDC, or arterial calcification due to CD73 deficiency, results in calcium build-ups in the arteries below the waist of sufferers and in the joints of their hands and feet. According to the NIH, the breakthrough discovery found that the disease is related to a variant in the NT5E gene.3

Conversion Disorder(15 of21)

This condition, which typically occurs after an extremely stressful emotional event, causes a person to experience sudden blindness or paralysis that can't be otherwise explained. People with mental illlnesses are at particularly high risk and psychological treatment can help lessen the symptoms.·

Ochronosis(16 of21)

Ochronosis results in black or blue external tissues, often the ear cartilage or eye, though it can occur throughout the body. It affects people who suffer from certain metabolic disorders, but it can also be caused by exposure, though scientists aren't exactly sure to what. Not just a cosmetic issue, the affected areas can become brittle and degenerate over time.

VLCAD Deficiency(17 of21)

This condition, which is caused by genetic mutations in the so-called ACADVL gene, keeps people from converting certain fats to energy. According to the NIH, the deficiency often presents during infancy in symptoms including low blood sugar, weakness, and lethargy.

Hairy Tongue(18 of21)

As the name suggests, Hairy Tongue is a condition in which the tongue develops a black, hairy texture. According to the Mayo Clinic, the disease is "harmless" and is caused by an overgrowth of bacteria in the mouth, which can be treated with antibiotics. The NIH reports that hairy Tongue can also present as brown, yellow, or green discoloration. ·

Ochoa (Urofacial) Syndrome, or, Peculiar Facial Expression(19 of21)

This obscure, inherited disorder presents at birth and causes infants to grimace when, in fact, they are attempting to smile. The disorder also includes an extreme urinary abnormality: an obstruction that interrupts the connection between nerve signals in the spinal cord and bladder, leading to incontinence. Though treatment does exist in the form of antibiotics and bladder re-education, some patients can develop renal failure in their teens and 20's, which can be life-threatening.

Eagle Syndrome(20 of21)

This syndrome, caused by a particular calcified ligament or elongated bone, frequently causes sufferers to feel that something is stuck in their throat. (Scientists don't know the reason behind said elongation/calcification.) Other symptoms can include ear and throat pain as well as difficulty swallowing. According to the NIH, it can be treated surgically or non-surgically with steroid injections and other anti-inflammatories.

Progeria(21 of21)

According to the Mayo Clinic, only around 130 cases of this devastating genetic disorder have been documented since it was discovered in 1886. Affected babies normally appear normal at birth, but within 12 months begin to have symptoms like hair loss and wrinkles. According to the Mayo Clinic, progeria is caused by a genetic mutation, but not one that's passed down through families; it's a chance event that affects only one egg or sperm. The average life expectancy for sufferers is 13.

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