It's frightening when your child has symptoms that are troubling the doctors. They scratch their heads and bring in specialists. They have no answers and conduct test after test. You search online looking for an answer and your fear and frustration gets larger and larger. What if what your child has is one of the thousands of rare or "orphan" diseases that are known to exist?
People with rare diseases face a number of problems. For example:
- There may be few specialists or experts in a rare disease.
- Access to experts is limited.
- Diagnosis is often delayed, which delays treatment.
- Information and scientific knowledge about a rare disease may be lacking.
What is a rare or "orphan" disease?
The Canadian Organization for Rare Disorders recognizes over 7,000 rare diseases. How to classify a rare disease differs depending on where you live in the world. For example, in Europe it is one with fewer than 2,000 patients; in the US, fewer than 200,000 patients; and in Japan, fewer than 50,000 patients.
Rare disorders range from relatively familiar but still low-incidence conditions (e.g., cerebral palsy or multiple sclerosis) to obscure, difficult-to-pronounce genetic and metabolic disorders (e.g., chromosome 3, monosomy 3p or short chain acyl-CoA-dehydrogenase deficiency).
Why is it so difficult to get a diagnosis for a rare disease?
The main reason it can be hard to reach a diagnosis is simply because a disease or disorder is so rare that it is unrealistic for a doctor to be familiar with every one of the thousands of rare conditions.
Another reason that it can be difficult to diagnose a rare disease is because many of these conditions are genetic. While some soon-to-be parents undergo genetic testing to identify potential genetic disorders, some do not. You could have been born with an unidentified genetic disorder that lays dormant deep in the body's cells from birth that suddenly triggers symptoms that can seem to come from out of nowhere.
Over 80% of rare diseases are caused by a defective gene(s). Take for example one such single-gene mutation called Gaucher disease. If you've never heard of it, you're not alone. Only about 1 in 100,000 people worldwide have Gaucher disease. Despite its rarity, Gaucher disease is the most common disorder among a group of 70 or more diseases called lysosomal storage disorders (LSDs).
In LSDs, genetic mutations damage enzymes that would normally break down substances within the cells. This leads to an abnormal buildup and storage of substances that can interfere with the normal functioning of cells and organs. In the case of the most common form of Gaucher disease (type 1), fatty substances can accumulate in the liver, spleen, lungs, bone marrow, and brain.
Diagnosis for lesser-known diseases like Gaucher disease can be confusing due to symptoms that at first appear unrelated or hard to relate. The symptoms of Gaucher disease include bone pain and fractures, anemia, breathing problems, and swelling of affected organs. You might visit a doctor concerned about bone pain, and a doctor may suspect any number of other issues before considering a disorder like Gaucher disease – like injury, infection, overuse, or the beginnings of osteoporosis.
And unfortunately, when a person has had to go from doctor to doctor or has been in and out of hospitals without receiving a definite diagnosis, medical professionals may appear to question a patient's integrity and not take their symptoms seriously. In some instances, people are told that they don't "fit the profile" for disease, or that the symptoms are "all in your head." Precious time that could be used for treatment or investigation gets lost in misinterpretation or in the shuffle from one doctor or specialist to the next.
It can take perseverance to acquire a diagnosis for rare diseases. But there are definite benefits to staying the course and being a proactive patient.
All material copyright MediResource Inc. 1996 – 2024. Terms and conditions of use. The contents herein are for informational purposes only. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Source: www.medbroadcast.com/healthfeature/gethealthfeature/Rare-Diseases-Why-Diagnosis-Can-Be-So-Difficult
You may be fearful or weary to continue on the road to diagnosis. When your health has become a question mark, it's natural to worry about what you might find out or to be anxious about tests and treatment. But as with any disease, when a rare disease remains undiagnosed or is misdiagnosed, quality of life can worsen due to lack of treatment or the wrong approach to treatment.
It is important to remain proactive, aware, and involved in your (or your child's) health and care. Acknowledge changes and track symptoms. You may notice patterns that lead to new questions or routes of inquiry for your doctors. Also pay attention to your instincts – sometimes you can just "feel it in your gut" that something is wrong.
The good news is that, when properly diagnosed, some rare diseases can be managed through medication or treatment. In the case of some types of Gaucher disease, for instance, treatment with enzyme replacement therapy can help to manage certain symptoms. Additionally, when doctors know what they are looking for, sometimes all it takes is a simple blood test to pin down a clear diagnosis – which is true of Gaucher disease.
Once you receive the accurate diagnosis, you can also reach out to others who have the same rare disease. Connecting to others can help to create a family for those with an "orphan" condition, supporting one another through a shared experience and developing expertise through collective knowledge.
You can even help to advance scientific and clinical understanding of your rare disease. Each new case of a rare disease provides further information and evidence useful to research and development of medications and treatments.
All material copyright MediResource Inc. 1996 – 2024. Terms and conditions of use. The contents herein are for informational purposes only. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Source: www.medbroadcast.com/healthfeature/gethealthfeature/Rare-Diseases-Why-Diagnosis-Can-Be-So-Difficult
People with rare diseases can face an uphill battle to reach a diagnosis. Many people living with rare diseases have to wait several years from the time of earliest symptoms to a confirmed diagnosis. Often times, the first diagnosis for many will turn out to be wrong.
What can a person do to put the odds in their favour?
Speak up and ask questions. If you experience new symptoms that defy explanation, do not hesitate to bring up your concerns to your doctor. Even if your family doctor cannot determine a diagnosis, you may be referred to a specialist who can narrow down – or broaden – the search for answers.
Be an assertive, proactive patient. Much of the battle will be in finding a doctor who will listen to your accurate description of symptoms. If a doctor does not seem to take into account all of your symptoms of concern, seek a second opinion.
Be organized. Your description of symptoms is only the beginning. Once a doctor has an idea of what might be the cause of your symptoms, diagnostic tests will likely be done. Ask for and keep copies of any diagnostic test that is done. With Gaucher disease, for instance, simple blood tests and genetic analysis may be all it takes to make the diagnosis. Same goes for any other paperwork or prescriptions you receive. Start a file for all materials related to your pursuit of a diagnosis. Another good thing to keep on hand and up-to-date is a family medical history, including information about any relatives who died in infancy or under mysterious circumstances.
Be aware. Keep track of not just your paperwork, but also how your condition progresses. Record each symptom you note, including the time and date when it happens, a ranking from 1 to 10 of how severe it seems, as well as any recent treatments, medications, or other potentially relevant information (e.g., stress level, life changes).
Search smart. Use your symptoms as search terms, including those symptoms that may seem unrelated to one another. The internet is a powerful tool overflowing with information – not all of it perfect or credible, but it could take you a step in the right direction if you know where to look. The National Organization for Rare Disorders (NORD) and the Canadian Organization for Rare Disorders (CORD) are great places to start.
Accept support. A trusted friend or family member who escorts you to doctor visits can provide moral and emotional support and can also help you to remember and understand all of the new information you might be receiving.
All material copyright MediResource Inc. 1996 – 2024. Terms and conditions of use. The contents herein are for informational purposes only. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Source: www.medbroadcast.com/healthfeature/gethealthfeature/Rare-Diseases-Why-Diagnosis-Can-Be-So-Difficult
