In the United States, a rare disease is considered to be one that affects fewer than 200,000 people. There are about 7,000 rare diseases, and an estimated 25 million to 30 million Americans are living with a rare disease.

About 80% of rare diseases are genetic, of which 65% are severe and cause disability. Some rare diseases include cystic fibrosis, muscular dystrophy, spina bifida, and hemophilia.

Why is it important to raise awareness about rare diseases?

Rare diseases are difficult to diagnose for three reasons. The first is due to a lack of knowledge of the general public; the second is due to a lack of scientific research; and the third is because they have such diverse symptoms that they can be confused with other diseases.

It can take over ten years to get an accurate diagnosis (after the first symptom) for one in five people affected by a rare disease. The consequences of this extended timeframe are:

• Lack of access to early treatment.
• Damage to the patient’s health.

Knowing there are rare or low-prevalence diseases is essential, as it can save lives. Talk to your physician to learn more about rare diseases.

Source

• https://www.cancer.gov/publications/dictionaries/cancer-terms/def/rare-disease

The retina is an inner layer of nerves inside our eye. It perceives light and images and sends them to the brain. Retinoblastoma is a type of cancer that occurs when the retina’s nerve cells have genetic mutations. This disease primarily affects children under six, being detected more frequently between the first and second year of life.

Retinal cancer symptoms

In most cases, cancer is curable if caught early. Therefore, it is essential to know the symptoms of childhood cancer. The most common sign of retinoblastoma is a white tint in the pupil that increases when light is shone into the eye. The light may be from a flash photograph.

Other symptoms and signs of retinoblastoma include:

• Eyes that seem to look in opposite directions.
• Eye inflammation.
• Red eyes.
• Vision challenges.

Vision problems from retinal cancer can cause your child to fall often, bump into things, or have trouble moving around the house. Early detection of retinoblastoma is essential to prevent significant problems, such as blindness and the spreading of cancer outside the eye.

If you have some concerns or your child presents one or more symptoms, seek medical advice.

The heart is one of the most active muscles in the human body and is considered one of, if not the most vital organ. The heart’s job is to pump blood throughout the body, sending oxygen and nutrients to other organs. Additionally, the heart gets rid of carbon dioxide and waste products not needed by the body. However, sometimes the heart does not work correctly, and this can be due to congenital heart defects.

Congenital heart defects are diagnosed when abnormal development of the heart or corresponding blood vessels is noted. A congenital heart defect is typically diagnosed at birth or in the first few months of life and occurs in more than one million newborns yearly.

Some of the most common signs and symptoms include:

• Pale gray or blue lips, tongue, or fingernails (cyanosis)
• Rapid breathing
• Swelling in the legs, belly or areas around the eyes.
• Shortness of breath during feedings
• Significantly irritable/fussy
• Lack of energy
• Poor feeding

A congenital heart defect is a broad term; treatment is determined by the specific type of heart defect and its severity. With individual therapy, children can still live long and productive lives.

Source

• https://www.charlottesvillepeds.com/congenital-heart-defect-chd-awareness-week/