Raising Awareness for Rare: January

Suzanne H.

Suzanne H.

Sales and Marketing

In our January edition of Raising Awareness for Rare, we explore cervical cancer, glaucoma, and thyroid diseases and their rare disease subgroups. January starts a month-long initiative to raise awareness and promote advocacy efforts for each of these diseases. Learn more about the rare subgroups of these historically common illnesses and how each condition impacts patient lives.

Each year, more than 14,000 American women are diagnosed with cervical cancer. This type of cancer begins in the cervix cells and is caused primarily by human papillomavirus (HPV). Spread through sexual intercourse, this virus is very prevalent in adults. It is estimated that at least 50% of all adults will have HPV at some point throughout their lives.

Small Cell Cancer of the Cervix

Occurring in just 3% of cervical cancer diagnoses, small cell cancer of the cervix qualifies as a rare type of cervical cancer.

  • This neuroendocrine cancer grows faster than other cervical cancers, often spreading to the lymph nodes and other body parts.
  • Treatment for small cell cancer of the cervix tends to be different from that of other cervical cancers, often including a radical hysterectomy and a combination of chemotherapy and radiation to slow the rapid disease growth.
  • Sadly, the five-year survival rate of those with small cell cervical cancer is lower than 50%.

To learn more about National Cervical Cancer Awareness month, visit the National Cervical Cancer Coalition’s website or social media platforms. Gain access to free advocacy and sexual health resources, learn from the shared experiences of patients and survivors, and find ways to get involved in awareness campaigns like The Quilt Project. #StopHPVCancer

More than 3 million Americans have glaucoma, a group of eye disorders characterized by damage to the optic nerve. This nerve connects the eye to the brain, and if glaucoma remains untreated, the injury can lead to permanent blindness. The two most common types of glaucoma are open-angle glaucoma and angle-closure glaucoma.

Irido Corneal Endothelial Syndrome (ICE)

Usually found in just one eye, this rare form of glaucoma occurs more often in females aged 20-50. ICE occurs when cells from behind the cornea spread over the drainage tissue of the eye and iris. Adhesions form attaching the iris to the cornea, often resulting in a blockage of eye drainage and irregular shape. The pressure put on the eye increases over time and can cause permanent damage to the optic nerve.

  • There is no known genetic factor to the ICE, nor an understood cause for its occurrence.
  • Symptoms include a halo sensation when looking into lights, as well as hazy vision in the morning.
  • ICE can be challenging to treat, as laser surgery is not a treatment option as in other forms of glaucoma.
  • Treatments often include medications and a procedure known as filtering surgery.

Experts estimate that 50% of the 60 million people with glaucoma don’t know they have it. The Glaucoma Research Foundation is a non-profit organization funding innovative research to find a cure and promote awareness globally. #glaucomaawareness

Thyroid diseases are a group of disorders that prevent a person’s thyroid from creating the correct amount of hormones. Estimates suggest 20M people in the United States suffer from thyroid disease, or about 1 in 10 Americans. The two main types of thyroid disease include hyperthyroidism (producing excess levels of the hormone thyroxine) and hypothyroidism (not producing enough thyroid-stimulating hormone). There are also five types of thyroid cancer – anaplastic, follicular, medullary, papillary, and Hurthle cell cancer.

There are several types of rare thyroid diseases resulting from genetic factors.

MCT8 Deficiency

This inherited disorder is often characterized by intellectual and motor delays, the inability to speak, and diminished muscle tone known as hypotonia.

  • Infants often appear normal at birth, with symptoms presenting by two months of age.
  • This disorder occurs only in males, with less than 150 patients ever identified.
  • Treatment plans require input from several doctors, including pediatricians, neurologists, surgeons, and specialty therapists.
  • Unfortunately, the median life expectancy of MCT8 patients is just 35 years, with about 30% dying in childhood.

Pendred Syndrome

Most often caused by mutations in the SLC26A4 gene, the lack of production of pendrin protein distinguishes this rare thyroid disease.

  • Pendred syndrome is named after British doctor Vaughan Pendred who discovered the condition in 1896.
  • Characterized by profound hearing loss, it is usually diagnosed at birth.
  • Estimated to account for as much as 15% of congenital deafness, this issue can lead to future balance issues for the patient.
  • An enlargement of the thyroid gland known as a goiter often occurs in early adulthood.

Riedel’s Thyroiditis (RT)

Characterized by dense fibrosis in the neck, Riedel’s thyroiditis (RT) is a rare inflammatory disease of the thyroid.

  • The disorder is named for Bernhard Riedel, the German surgeon who first discovered the disease in 1883.
  • Therapy options include courses of the drug prednisolone to reduce swelling and surgery to remove pressure on the trachea in advanced cases.

TSH-Secreting Pituitary Adenomas (TSHoma or Thyrotropinoma)

These rare, benign tumors form in the pituitary gland, secreting thyroid-stimulating hormones (TSH). The thyroid gland becomes overly active in response to the secretion, triggering hypothyroidism.

  • Symptoms include weight loss, rapid pulse, tremor, anxiety, heat intolerance, and vision issues
  • Treatment includes the use of beta-blockers and surgery to remove the tumors.

Up to 60% of those with thyroid disease are unaware of their condition. Many advocacy groups exist to raise awareness for thyroid disease. The American Thyroid Association created a Thyroid Patient Education hub to connect individuals with resources and opportunities to get involved.  

Use the month of January to learn more about cervical cancer, glaucoma, and thyroid disease. Someone currently battling one of the above conditions truly understands the daily challenges of having a rare disease. Patients choosing to participate in a clinical trial may receive a new treatment option to improve their quality of life – or the lives of future generations fighting the same disease. View our previous articles where we raise awareness for rare diseases throughout the year.

Learn more about how we can help you increase enrollment and retention in your rare disease clinical trials.