Legend has it that Shrek had acromegaly: the rare disease that Ana and Rafa have suffered from.

"I live in a swamp, I've put up signs, and I'm a scary ogre. What will I have to do to get some privacy?" Shrek said in one of his films . Legend has it that the character was inspired by the French wrestler Maurice Tillet . Although DreamWorks, the production company in charge of the animation, has never confirmed these rumors, one of his nicknames was "the ring ogre."

At age 20, she was diagnosed with acromegaly , a rare endocrine disorder caused by a normally benign tumor in the pituitary gland (a small endocrine gland attached to the bottom of the brain). This tumor causes an increased release of growth hormone (GH), which leads to the gradual enlargement of various tissues and organs over the years. The prevalence of this rare disease is estimated at 40–70 cases per million , which means that there may be around 3,000 patients in Spain, according to the Spanish Association of People Affected by Acromegaly .

Ana is 46 years old and was diagnosed with the condition 15 years ago . It wasn't an easy road; she suffered years of unbearable headaches, even losing her vision during some episodes, and was simply prescribed pills to alleviate the migraines. "I had to see many doctors, but no one could figure out what I had. They even removed a wisdom tooth because they thought my bite had simply changed ," she describes in conversation with El Confidencial .

However, the problem persisted and was compounded by other symptoms , such as the absence of menstruation or discharge from her breasts. In fact, they removed cysts from her ovaries, which they thought was the cause. That didn't resolve her ailments either .

There came a time when she couldn't continue with her life: "I was practically in bed all day ." This was accompanied by physical changes of unknown origin. " I looked terrible in photos, and my shoes didn't fit," she explains.

Her GP ordered an imaging test of her pituitary gland, suspecting acromegaly . However, the test came back clear; "nothing was visible." "I went to a private gynecologist, and as soon as he saw me, he said, ' We need to run tests, but you have acromegaly,'" she recalls.

"It was very hard. Now I live a normal life. They told me I probably wouldn't be able to be a mother, and I have two children."

She went into surgery to try to remove the tumor, but it was quite large, had bled, and had spread . "They removed very little," she continues. Because of this, she had to undergo radiation therapy about a year after the surgery.

She's currently on medication but remains stable: "I go for checkups every few months and they do blood tests." She also confesses that she suffered from depression: "It was very hard. Now I'm living a normal life . They told me I probably wouldn't be able to be a mother, and I have two children."

Antonio Picó , a neuroendocrinology specialist at Dr. Balmis University Hospital in Alicante , explains that the pituitary gland regulates the thyroid , gonads, and cortisol production in the adrenal glands . It also produces prolactin, which stimulates mammary gland development, and growth hormone.

The expert also emphasizes the differences between acromegaly and gigantism , since although both are conditions caused by an excess of growth hormone, they differ in the age at which they develop . "If it occurs before growth has finished, during childhood or puberty, it is gigantism . In my 38 years at this hospital, I have only seen one giant; we diagnose between two and three cases of acromegaly each year," he points out.

Instead, he comments that the usual scenario is the appearance of a benign tumor in adulthood : "The growth cartilages have already fused and since one cannot grow in height, a deformation occurs in width, increasing the acral parts [more distal areas of the body, such as the extremities (hands and feet), ears and nose]. This is what generates a very characteristic clinical appearance , acromegaly."

He insists that in most cases, the suspicion is clinical : "A very characteristic phenotype arises. To detect it, we perform a simple blood test that measures a hepatically synthesized protein directly regulated by growth hormone, IGF-1. If it is unequivocally elevated, the diagnosis is already made."

The neuroendocrinology expert assures that if the tumor is completely removed, the disease disappears.

The next step will be to perform an MRI of the pituitary gland and then operate on the tumor. "The procedure is a four-handed procedure , performed through the nose, with the ENT specialist working in one nostril, providing light, and the neurosurgeon in the other," he says.

Similarly, he notes that the cure is surgical, that is, if the tumor is completely removed , the disease disappears: "If it is not very widespread, it can be completely dried out, but if it is surrounding the arteries , removing it poses a very high risk of tearing them and causing a cerebral hemorrhage."

In that case, medical treatment is supplemented with radiotherapy , although it takes years to take effect. "Even if the disease is cured, the alterations it has already caused don't disappear. Early diagnosis is important because it leads to metabolic and cardiovascular problems , and even an increased prevalence of cancer. There are already several cardiologists and ENT specialists who know how to recognize a case," he concludes.

Rafa was lucky; he was diagnosed in February 2024 and by September of that same year , he had already undergone surgery, completely eradicating the cancer. He's now 41, but at 39, he was already having knee problems and his mood was low . "I attributed it to a drop in testosterone ," he confesses.

Just like Ana, her bite changed, and she even broke a tooth . Her feet also didn't fit into her usual shoes. "Have you had Botox?" a former colleague she hadn't seen for a while asked her over lunch. After that comment, she panicked and searched the internet for her symptoms : "It came up that I could have acromegaly or Shrek syndrome." At that point, she called the association for those affected. "Don't worry, you'll need an endocrinologist to diagnose you, but I'm sorry to say that your voice is a clear symptom," they told her.

Indeed, when the diagnosis was confirmed, he underwent surgery and his condition was resolved: "In my case, it's a miracle because the disease was detected before it caused chronic illnesses or organ damage. My tumor was the easiest to treat ; I'm completely cured. The only thing left for me are joint problems, such as a pinched nerve."

"At home, my daughters and I have treated it as a game and joked about the Shrek movies . The reality is that the physical changes are very difficult; it's like becoming a monster ," she concludes.

Ana also emphasizes the importance of having a support network within the association . "It's very helpful to have contact with people who are experiencing the same thing as you. It's like a family; we have annual get-togethers," she says.

Other institutions, such as Recordati Rare Diseases , pioneers in orphan drugs and therapeutic solutions for rare diseases , also hold meetings with patients, families, and physicians. Specifically, last June they met in Madrid to advance toward more effective, sustainable, and personalized therapeutic models.