30 years for a diagnosis

Today is Rare Disease Day. Rare Disease Day was first celebrated in Europe and Canada on 29 February 2008 in order to raise public awareness of the needs of those affected by rare diseases. In occasion of this event, I will tell you the story of Marco…

What is probably the most frustrating of all the difficulties of being affected by a rare disease? Get the right diagnosis.
Common diseases are easily recognized because their symptoms are often well known and well documented. For a rare disease the situation is quite different. Often very little is known about their symptoms and even less about treatments.

For Marco it was literally an odyssey before understanding the real cause of his right arm´s mobility difficulties, “No one had pictured it properly and thus the treatment I was going through was not the right one.”

After 30 years, in 2013, the doctors discovered what the problem was: chronic inflammatory demyelinating polyneuropathy (CIDP).

It is sounds a very complicated name. In order to understand the disease, we need to comprehend the meaning of every word:

  • Chronic: persistent, constant;
  • Inflammatory: involving the activation of the immune system;
  • Demyelinating: the myelin layers, covering the nerves of the neuronal system, are damaged (see Figure);
  • Polyneuropathy: the peripheral nerves, outside the central nervous system (CNS), are injured.

Figure: Difference between a normal neuron (top) and a neuron affected by demyelination (bottom).

This condition can start at any age and is more frequent among men than women. The prevalence of CIDP is considered to be around 5-7 cases per 100,000 individuals.

CIDP appeared in Marco (59 years old) about 30 years ago with both neurologic problems in his right arm and walking difficulties. In particular he had a problem in his left arm with difficulty extending the fingers with loss of strength in the whole arm.

Electromyography is an electrodiagnostic technique which allows evaluating and recording the electrical activity produced by skeletal muscles, and it’s used to detect the electric potential generated by muscle cells when are electrically or neurologically activated. Marco said that “the rudimentary electromyographic examination that could be done at the time showed a slowing of conduction in left elbow.”

Thus he underwent a surgery to “unzip” the ulnar nerve, the nerve which runs along one of the long bones in the forearm. After surgery the symptoms were strongly reduced but the interosseous muscles of his left hand shrunk.

“The diagnosis was the “least bad” among those I expected. I saw it as a ‘positive’ news.”

Patients affected by CIPD progressively become weaker and manifest other symptoms such as: sensory dysfunction of the legs and arms, tingling in toes and fingers, loss of reflexes (areflexia), and fatigue.

The underlying cause of these symptoms is the loss and/or damage of the myelin which wraps around the nerve axon (the long, wire-like part of a nerve cell) like insulation around an electrical wire (see Figure). The nerves extend from the spinal cord to the rest of the body, stimulating muscle contraction and transmitting sensory information back to the nervous system from receptors in the skin and joints. Myelin allows electrical impulses to efficiently travel along the nerve axon.

Damage or removal of myelin causes the loss or deceleration of these electrical impulses, and messages transmitted from the brain are distorted and may never make it to their final destination, the brain. CIDP causes the demyelination as a consequence of the reaction of the immune system against its own myelin of the peripheral nerves (autoantibodies) (see Figure, bottom).  

More recently, 10-12 years ago, the same problems that Marco had at to the left arm, appared on his right one, with identical consequences, and leading to the same surgery. But in 2013, the most extended and significant neurologic episode occurred. As a result, he took a series of exams which highlighted a number of problems in the cervical spinal canal suggesting the compression of the nerves of the arm.

It seemed there was only one thing to do: a major surgical procedure to remove multiple cervical hernias. However  “despite 3 surgeons having confirmed the evaluation and the need for intervention, at the last visit, one of the surgeons recognized a different etiology” said Marco.

The surgery was thus cancelled and Marco was sent to a neurologist specialized in this area. “The neurologist gave me the diagnosis: chronic inflammatory demyelinating polyneuropathy (CIDP). I started the treatment that currently requires infusion of immunoglobulin every 8 weeks.”

Intravenous immunoglobulin, or IVIg, involves administration of immunoglobulin (antibodies) obtained from the plasma of a thousand or more blood donors. The mechanism of IVIg is not yet precisely known but is thought to be related to modulation of pathogenic autoantibodies.

Given that Marco has a scientific background and works for a large pharmaceutical company based in Parma, Italy, for him it was actually easier to understand the diagnosis, the prescribed drugs, and the cures.

“The diagnosis was the “least bad” among those I expected: heavy surgery, SLA, etc. I saw it as a ‘positive’ news.” However, he realized that living with CIDP could also be very challenging, “but I’ve been quite lucky because seeing others with the same disease, I realized that mine is a rather mild form, slowly evolving, maybe stopping with the therapy, and without significantly disabling impairments.”

If untreated, 30% of patients affected by CIDP will progress to wheelchair dependence. Early recognition and appropriate treatment can avoid a significant impact on the body and thus disability.

“The therapy fortunately is reimbursable, otherwise I do not think I could pay for it with my resources.”

Only after the diagnosis, Marco finally managed to start targeted searches. “I have a very critical attitude towards the doctors, but I recognized that they were moving in line with my assessments of treatment opportunities. I stopped studying and researching and I’m confident about what the doctors are doing, especially because, all in all, I do live a normal life, without significant limitations, and I do not need to change the situation”.

Apart from the acute period and some minor functional limitation, Marco’s life has not changed much. He can also do physical activity that requires significant physical effort without major problems.

The only thought of Marco is that “there is always the fear of a relapse”.

Erica F.

Figure adapted from: <a href=’http://www.123rf.com/profile_hfsimaging’>hfsimaging / 123RF Stock Photo</a>

About me – I’m from Italy and I moved to Zurich at the end of 2011 in order to do a PhD at the University of Zurich. Since November 2017 I live and owrk in Munich. Since November 2016, I collaborate with CheckOrphan .

If you would like to tell me your experience, help other people, and to enter in contact with Marco please contact me at rare.diseases@checkorphan.org.  


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