How long will keenan cahill live

These features may not be apparent at birth but progress as storage of glycosaminoglycans affects bone, skeletal structure, connective tissues, and organs. Neurological complications may include damage to neurons which send and receive signals throughout the body as well as pain and impaired motor function. This results from compression of nerves or nerve roots in the spinal cord or peripheral nervous system. Depending on the mucopolysaccharidoses subtype, affected individuals may have normal intellect or may be profoundly retarded, may experience developmental delay, or may have severe behavioral problems.

Many individuals have hearing loss, either conductive in which pressure behind the eardrum causes fluid from the lining of the middle ear to build up and eventually congeal , neurosensitive in which tiny hair cells in the inner ear are damaged , or both.

Communicating hydrocephalus, in which the normal circulation of cerebrospinal fluid becomes blocked over time and causes increased pressure inside the head, is common in some of the mucopolysaccharidoses.

Surgically inserting a shunt into the brain can drain fluid. The eye's cornea often becomes cloudy from glycosaminoglycan buildup, and degeneration of the retina and glaucoma also may affect the patient's vision.

Physical symptoms generally include coarse or rough facial features, short stature with disproportionately short trunk dwarfism , skeletal irregularities, thickened skin, enlarged organs such as liver or spleen, hernias, and excessive body hair growth.

Short and often claw-like hands, progressive joint stiffness, and carpal tunnel syndrome can restrict hand mobility and function. Recurring respiratory infections are common, as are obstructive airway disease and obstructive sleep apnea. Many affected individuals also have heart disease, often involving enlarged or diseased heart valves. Children with MPS VI, Maroteaux-Lamy syndrome , usually have normal intellectual development but share many of the physical symptoms found in Hurler syndrome.

Caused by the deficient enzyme N-acetylgalactosamine 4-sulfatase , Maroteaux-Lamy syndrome has a variable spectrum of severe symptoms. Neurological complications include clouded corneas, deafness, thickening of the dura the membrane that surrounds and protects the brain and spinal cord , and pain caused by compressed or traumatized nerves and nerve roots. Growth is normal at first but stops suddenly around age 8.

By age 10 children have developed a shortened trunk, crouched stance, and restricted joint movement. In more severe cases, children also develop a protruding abdomen and forward-curving spine. Skeletal changes particularly in the pelvic region are progressive and limit movement.

Many children also have umbilical or inguinal hernias. Nearly all children have some form of heart disease, usually involving valve dysfunction. How are the mucopolysaccharidoses diagnosed? Diagnosis often can be made through clinical examination and urine tests excess mucopolysaccharides are excreted in the urine.

Enzyme assays testing a variety of cells or body fluids in culture for enzyme deficiency are also used to provide definitive diagnosis of one of the mucopolysaccharidoses. How are the mucopolysaccharidoses treated? Currently there is no cure for these disorders. Medical care is directed at treating systemic conditions and improving the person's quality of life.

Physical therapy and daily exercise may delay joint problems and improve the ability to move. Changes to the diet will not prevent disease progression, but limiting milk, sugar, and dairy products has helped some individuals experiencing excessive mucus.

But Cahill has garnered attention not only for his eccentric performances but also because of his unique appearance. Cahill has a rare genetic disorder known as Maroteaux Lamy Syndrome, which in some cases, including this teen's, results in individuals developing a dwarf-like appearance.

The metabolic disorder generally results in growth retardation around age two or three and is progressive, leaving those who suffer from it with "coarsening facial featuries" and "joint stiffness. Other known complications include strained breathing, blindness, heart abnormalities and a shortened lifespan.

Cahill said he's happy to "let everyone know what disease" he has, and that he knows people are often curious about the way he looks. Cahill, who said he hopes to become an actor, said he doesn't let his medical setbacks get him down. He's had nine surgeries in his short lifetime, including brain stem surgery a couple of months ago.

Every Thursday, Cahill undergoes enzyme infusion therapy, the only FDA-approved treatment of the disorder. A drug called Naglzyme is delivered to Cahill intravenously, and has been shown to improve patients' endurance and generally improve their quality of life. At an age when many teens tend to feel self-conscious about their appearance, Cahill says he doesn't mind that his YouTube channel makes him an easy target for criticism.

Barbara Wedehase, the executive director of the National MPS Society , which is the umbrella organization for all mucopolysaccharidose disorders, including Maroteaux Lamy Syndrome, said that other people suffering from rare diseases might be inspired by Cahill's outgoing personality.

The power of the Internet for sufferers of rare disorders should also not be overlooked, she said. But when it comes to inspiring others, Cahill is modest when asked what he'd like to tell other kids facing similar challenges. We'll notify you here with news about.