From what we have been informed of, Joey is the sixth person in the world diagnosed with this unnamed, incurable disease -- an as-yet undefined autoimmune cerebelletis with all known antibodies negative, but a new antibody (uncharacterized – we call it the “bad antibody”) reactive against the cerebellum discovered in a research lab (the Mayo Clinic).

In an effort to help educate and raise awareness of this rare disease, and neurological and autoimmune diseases and the life altering effects they have, this information has been prepared by his family with the help of Joey's neurologist from NY Columbia Presbyterian Hospital, Dr. Christina Ulane.

Joey and family extend our sincere gratitude to those in the medical and rehabilitation field who have helped him along the way; and to our families, friends and the autoracing community near and far for helping to raise awareness of this extremely rare condition.

Autoimmune Cerebellitis

An autoimmune disease is when the human body's own immune system attacks itself. We need our immune system to fight off bacteria and viruses and other illnesses, but sometimes the system is imperfect and is activated against a specific part of our own body. Because the immune system has to be able to recognize many different kinds of bacteria and viruses, it can also ‘accidentally' recognize many different parts and organs of our bodies. Some examples of autoimmune diseases include thyroid disease (attacks the thyroid gland), rheumatoid arthritis (attacks the joints), myasthenia gravis (attacks junction of nerve and muscle) and Guillain-Barre Syndrome (attacks peripheral nerves in the body). The cause of autoimmune disease is unknown, but it most likely is due to a complex interaction between a person's genetic make-up, the environment they grow up in, and sometimes it can be triggered by an infection.

The cerebellum is a part of the brain located in the back of the head, just above where the neck connects to the head. The cerebellum is responsible for many different functions, but it is most important for maintaining balance when you are standing and walking (so that you do not fall), coordinating your movements (so that when you reach for something you are “on target”), coordinating your speech (so that you speak clearly and fluently and with a regular rhythm), as well as contributing to eye movements. When the cerebellum is not working properly, a person is very unbalanced when walking, has difficulty with fine motor skills (such as eating, writing), trouble with speaking clearly, jerky eye movements and sometimes tremors in the arms, legs and head. If only the cerebellum is affected, a person can still think clearly, and has normal cognitive abilities, they just have difficulty clearly articulating and carrying out all their regular activities. Many different things can cause a problem with the cerebellum and one very rare cause of cerebellar dysfunction is when the immune system attacks the cerebellum. We call this disease an autoimmune cerebellitis.

How this relates to Joey's condition

“I can't explain how/why i can't get my hand to write, or why my leg won't move when I want it to..."

Joey became symptomatic with acute autoimmune cerebellitis in May of 2009; at first showing small signs of not being able to write his name and his right arm and leg feeling ‘funny'; like he couldn't get it to do what he wanted them to. Within days, Joey was unable to walk straight, his speech was slow and slurred, his head tilted to the left, and his eyes looked very different. Was it a stroke? Was it multiple sclerosis? Was it a brain tumor? After admission into a local hospital he was quickly transferred to NY Columbia Presbyterian Hospital where he rapidly began to lose his fine and gross motor skills. After much investigation and testing (spinal taps, MRI's, Ultrasounds, blood tests, test for cancers, etc.) he was eventually diagnosed with an as-yet undefined autoimmune cerebelletis with all known antibodies negative, but a new antibody (uncharacterized – we call it the “bad antibody”) reactive against the cerebellum discovered in a research lab (the Mayo Clinic). Basically, this “bad antibody” attacked his cerebellum and he lost all of his fine and gross motor skills. Could not walk, speak, write, balance – there was none - could not feed himself, had body tremors, double (and sometimes triple) vision, and rapid eye movements.

As a result of this bad antibody attacking the cerebellum, the affects to the cerebellum are very similar to “ataxia”. Ataxia simply means incoordination, imbalance, but can include the other symptoms of speech difficulty, tremors, eye movements, etc.

Because of the autoimmune nature of the disease, they first tried a series of IVIG treatments* which his body rejected at that time; his condition worsened. The next step was to try plasmapharesis (like dialysis). The plasmapheresis works as a blood cleaner in a sense where it takes out the old blood, cleans/filters it, and puts your own blood back into your body. Five simultaneous treatments were given, 1 every other day. After the first set of 5 treatments Joey showed small signs of progress in his speech, vision and coordination. He then underwent 3 more bi-weekly intense treatments as an inpatient and then one monthly as an outpatient which ended in January of 2010 as a result of the re-testing for the “bad antibody” coming back negative! Joey is still in ‘remission', but the long road of rehabilitation continues.

 


Plasmapharesis Machine

*IVIG is given as a plasma protein replacement therapy (IgG) for immune deficient patients whohave decreased or abolished antibody production capabilities. In these immune deficient patients, IVIG is administered to maintain adequate antibody levels to prevent infections and confers a passive immunity. Treatment is given every 3–4 weeks. In the case of patients with autoimmune disease, IVIG is administered at a high dose (generally 1-2 grams IVIG per kg body weight) to attempt to decrease theseverity of the autoimmune diseases. It did not work with Joey at that particular time because his body was still producing the “bad antibody”which was working against the “good antibody”.

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