Obtaining a diagnosis for a rare disease tends to be very difficult. Doctors do not immediately expect that rare conditions are causing one’s symptoms; they blame more common conditions first. Because of this, finding the correct diagnosis can be a long process, which can lead to stress and confusion for a patient. Experiencing symptoms without an explanation can be very difficult. Sarah Mann experienced this exact phenomenon. She was diagnosed with Hashimoto’s disease in the 7th grade, which provided a sense of relief after years of unexplained symptoms. Even after a diagnosis and the corresponding treatment, she still endured symptoms that did not correlate with Hashimoto’s disease. It was not until she was 18 that she was also diagnosed with Lyme disease. Her story stresses the importance of listening to patients and being open to a rare disease diagnosis.
About Hashimoto’s Disease
Hashimoto’s disease occurs when the immune system mistakenly attacks the thyroid, which often results in hypothyroidism. This disease is the most common cause of hypothyroidism, and it tends to affect middle-aged females.
The first symptom to be noticed is typically a swollen neck due to an enlarged thyroid. It will progress slowly, meaning some people will not notice symptoms for long periods of time. Other symptoms include fatigue, sluggishness, constipation, increased sensitivity to cold, pale and dry skin, a puffy face, brittle nails, hair loss, enlarged tongue, unexplained weight gain, muscle aches, tenderness, joint pain and stiffness, excessive menstrual bleeding, depression, and memory loss.
Complications can arise from this condition as well. People may experience goiter, heart problems, mental health issues like depression, and myxedema. Pregnant females with Hashimoto’s disease may also give birth to children with birth defects.
Medical professionals are unsure what causes the immune system malfunction. Some suspect an infection or virus that acts as a trigger, while others believe that a genetic mutation is responsible. There are also risk factors that heighten one’s chance of developing Hashimoto’s disease. Females and those who are middle-aged are at the highest risk of this condition.
Doctors will look for characteristic symptoms, followed by blood tests in order to diagnose Hashimoto’s disease. Blood tests include an antibody test or a hormone test. After a diagnosis is obtained, treatment consists of synthetic hormones. Doctors will monitor the dosage closely to ensure that it is the most effective for the specific patient. They may also suggest avoiding certain things, such as certain medications or high levels of soy.
About Lyme Disease
Lyme disease is a vector-borne disease that is typically spread through ticks. These ticks spread the bacteria Borrelia burgdorferi. According to the CDC, there are 30,000 cases reported annually.
Symptoms of this condition come in stages, so they differ depending on how long one has been infected. Three to 30 days after infection, a rash will appear at the site of the bite. Symptoms will follow, including fever, chills, fatigue, headaches, pain in the muscles and joints, and swollen lymph nodes. In the days or months following infection, symptoms will evolve into severe headaches, additional rashes, neck stiffness, facial palsy, severe swelling and pain in the joints, arthritis, dizziness, shortness of breath, an irregular heartbeat, nerve pain, inflammation in the spinal cord and brain, shooting pains, numbness, tingling, and pain in the tendons, muscles, joints, and bones.
A diagnosis is obtained through the finding of characteristic symptoms, asking about exposure to ticks, ruling out other conditions, and various lab tests. A two step blood test will be conducted in order to confirm a diagnosis.
Rapid diagnosis is important for effective treatment. If it is caught during the early stages, antibiotics can be a quick cure. People may also develop post-treatment Lyme disease syndrome, which requires additional treatment. Preventing tick bites or removing them quickly is a good way to prevent Lyme disease as well.
Sarah’s Story
Sarah was diagnosed with Hashimoto’s disease in 7th grade, after living with unexplained symptoms for five years. She had endured countless tests before doctors finally gave her a conclusive diagnosis. She speaks of the relief felt in that moment when she finally had an explanation. Unfortunately, she continued to experience the same symptoms, and they worsened over time.
Doctors and parents thought that the first diagnosis solved Sarah’s problems. They did not understand why she was sleeping so often or complaining about other symptoms. In fact, they thought that a drug test may be necessary.
It was not until Sarah found a new doctor that her mystery symptoms were explained. This doctor ordered a full blood panel, which led to the Lyme disease diagnosis. He was confused as to how she had gone without a diagnosis for so long, and then shocked upon discovering that no other doctor had ordered a blood panel between Sarah’s two diagnoses.
A Lyme disease diagnosis was disappointing for Sarah, but there was also that same sense of relief. She could finally receive the correct treatment, rather than doctors ignoring her symptoms and raising her current medication.
Sarah is now much healthier and happier; she is in the end-stages of Lyme disease treatment and using other methods to manage her Hashimoto’s disease. She stresses the importance of fighting for one’s right to a diagnosis. She says you cannot let a doctor dismiss you or make you feel inferior.
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