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Joint inflammation or contractures. Nodules (small lumps under the skin or in other tissues). A weakened or hoarse voice.

Children with these symptoms may have been diagnosed with juvenile idiopathic arthritis (JIA) or other types of juvenile arthritis. But do they actually have JIA or do they have Farber’s disease?

An equine digression

When you hear hoofbeats, think horses, not zebras.

This is an adage in the medical world that encourages doctors to not wander off exploring rare and esoteric reasons for a patient’s symptoms. Because most of the time, that hoof beat of a rash likely isn’t the plague, the joint pain more likely a type of arthritis than the bends (especially if the person has never scuba dived) and you get the picture.

But once in a while, it actually is a zebra. And even if it’s first identified as a horse, eventually, the stripes come through.

It took five years of my parents running around to different doctors before one finally recognized that I had juvenile idiopathic arthritis (JA). And all these years later, it still takes an average of five years before someone with autoimmune arthritis gets a proper diagnosis. Because these conditions are hard to pin down and have overlapping symptoms, making it even harder to differentiate between them.

And it’s harder still if what you actually have is a zebra, one of the conditions considered a rare or orphan disease. These conditions are complex and because they are so rare, tricks on how to recognize them aren’t widely known, even among medical professionals.

Which brings me back to Farber’s disease. This condition is often misdiagnosed as JIA because some of the symptoms — joint inflammation and contractures, weekend or hoarse voice and nodules — overlap.

What is Farber’s Disease?

Farber’s disease is a rare metabolic disorder that develops in children, as early as in infancy. In addition to the symptoms already mentioned, the child may also experience fever, systemic inflammation, and lung problems. Symptoms can appear in any order, and may vary in severity. They usually appear somewhere between two weeks and four months in age, but can show up later in life. Farber’s is extremely rare, currently identified in only 80 individuals worldwide.

This is an autosomal recessive genetic condition, which can happen when both parents have an abnormal gene. If one of your parents pass on this gene to you, you become a carrier of Farber’s. If both of your parents pass it on to you, you will have Farber’s.

In this condition, your body is unable to produce an enzyme called lysosomal acid ceramidase, which is why it is also called Farber’s lipogranulomatosis, ceramidase deficiency. When this enzyme is missing, it leads to a buildup of ceramide, which causes continuing and progressive damage to tissues in the joints, lungs, nervous system and liver.

How do you know if you got the wrong diagnosis?

Sometimes, it can feel as if the diagnosis doesn’t quite fit. If you or your child has been diagnosed with JIA or another type of juvenile arthritis, but something doesn’t feel right about it, consider these questions:

Do the symptoms occur in more than one condition? As mentioned above, the symptoms of different types of juvenile arthritis often overlap, as well as occur in other types of conditions. You may want to seek a second opinion. Checking with another expert is completely within your right.

Did the second opinion not agree with the first? This could be an indication that your diagnosis wasn’t correct. Getting a third opinion can help. It can be a lot of running around to doctors, but getting the proper diagnosis is important.

Is the medication not working? Sometimes, it can take a while to find a medication that works for your condition. At other times, if the medication doesn’t work it may be because it’s treating the wrong condition.

Trust yourself

Much as we would like doctors to have a perfect knowledge of everything, they are human beings. They don’t know everything — simply can’t know everything.

When I interviewed Dave deBronkart for HealthCentral, he told me that most doctors are about 10 years behind the latest research. There are simply not enough hours in the day to attend to your patients and voraciously read every article out there that may remotely apply to their field. Until we develop a Star Trek-like scanner that will enable doctors to say “A-ha! This is X disease,” some people will continue to get the wrong diagnosis.

If you feel that you or your child has been misdiagnosed, you have the right to consult as many other doctors as it takes until you get an answer that feels right. You are the best advocate for yourself or for your child — it is you who spend 24 hours a day living with or right next to the symptoms.

If your gut tells you that something isn’t right or that the diagnosis is wrong, keep pushing until you get an answer that works.

If you think you or your child may have Farber’s Disease, take this survey at Clara Health. It may entitle you to a free consultation to locate more resources.

 

This post was sponsored by Clara Health.