A look at more common rare diseases in the U.S.

When we hear the word “rare,” we might think of something uncommon or unlikely to happen. But in the world of healthcare, a rare disease is a serious medical condition that affects a small percentage of the population.

What is a rare disease?

A rare disease is defined by the National Organization for Rare Disorders (NORD) as a disease, disorder, illness, or condition that affects fewer than 200,000 Americans. While each rare disease impacts a small number of people, collectively, they affect over 30 million people in the U.S. There are more than 10,000 known rare diseases, many of which are life-threatening or significantly impact quality of life.

Below, we explore five rare diseases that, while uncommon, are among the more frequently diagnosed:

• Sickle Cell Disease (SCD)
• Nontuberculous mycobacterial (NTM) lung disease
• Cystic Fibrosis (CF)
• Hemophilia
• Duchenne muscular dystrophy (DMD)

Sickle Cell Disease (SCD)

Sickle cell disease is an inherited blood disorder that affects hemoglobin, the protein responsible for carrying oxygen in red blood cells. Individuals with SCD produce abnormal hemoglobin, causing red blood cells to take on a rigid, sickle shape. These cells can block blood flow, leading to complications such as:

• Chronic anemia
• Pain episodes
• Swelling in hands and feet
• Increased risk of infections
• Delayed growth and puberty
• Vision problems

SCD affects more than 100,000 people in the U.S., with approximately 90% of cases occurring in non-Hispanic Black or African American individuals. Between 3% and 9% of those affected are Hispanic or Latino.

Nontuberculous Mycobacterial (NTM) Lung Disease

Nontuberculous mycobacterial (NTM) lung disease is a chronic infection caused by bacteria commonly found in soil, water, and dust. There are over 190 recognized types of NTM bacteria, and they can lead to persistent respiratory issues, including:

• Chronic cough
• Fatigue
• Weight loss
• Fever
• Night sweats

NTM primarily affects people with underlying lung conditions, weakened immune systems, or those over the age of 65. An estimated 86,000 people in the U.S. are living with NTM lung disease.

Cystic Fibrosis (CF)

Cystic fibrosis is a genetic disorder that primarily affects the lungs, pancreas, and other organs. It results from a faulty protein that causes mucus to become thick and sticky, leading to blockages and complications such as:

• Chronic lung infections
• Airway inflammation
• Pancreatic insufficiency
• Liver disease

CF affects about 40,000 people in the U.S. and is most common in individuals of northern European ancestry. Approximately 1 in 30 Americans carries a mutation in the CFTR gene, which can be passed down to children.

Hemophilia

Hemophilia is a rare bleeding disorder in which the blood does not clot properly due to missing or defective clotting factors. It is typically inherited and primarily affects males, though some females also have mild or moderate symptoms. The disorder increases the risk of excessive bleeding, both externally and internally, which can lead to joint damage and other complications.

In the U.S., approximately:

• The highest prevalence is found in Midwestern and Northeastern states
• 30,000–33,000 males have hemophilia
• 1,700 females are affected

Duchenne Muscular Dystrophy (DMD)

Duchenne muscular dystrophy is a severe genetic disorder that causes progressive muscle weakness and degeneration. It primarily affects boys and occurs in approximately six in 100,000 individuals. DMD symptoms typically appear in early childhood, leading to:

• Difficulty walking
• Frequent falls
• Muscle weakness
• Cardiopulmonary complications

Diagnosis often involves a blood test, muscle biopsy, electromyogram (EMG), or electrocardiogram (ECG). The median age of survival for males with DMD is approximately 23.7 years.

Supporting Rare Disease Care at Maxor Specialty Pharmacy

Maxor Specialty Pharmacy has over 35 years of experience in providing access to limited distribution drugs (LDDs) that treat rare and orphan diseases. Our team specializes in rare conditions, including cystic fibrosis and NTM lung disease, ensuring patients receive the highest level of care and support.

We are proud to be a URAC Rare Disease Center of Excellence, a designation recognizing organizations that provide exceptional care for patients with rare diseases.

To learn more about how Maxor Specialty Pharmacy supports patients with rare conditions, visit Maxor Specialty Pharmacy.

Further reading

• Rare disease day: A closer look at rare diseases
• Why Maxor Specialty?
• Maxor Specialty Pharmacy receives Rare and Orphan Pharmacy Designation

References

• https://rarediseases.org/rare-diseases/
• https://www.mayoclinic.org/diseases-conditions/sickle-cell-anemia/symptoms-causes/syc-20355876
• https://www.maxor.com/what-is-sickle-cell-disease/
• https://www.cdc.gov/sickle-cell/data/index.html#:~:text=Sickle%20cell%20disease%20(SCD)%20affects,recommended%20healthcare%20screenings%20and%20treatments.
• https://www.lung.org/lung-health-diseases/lung-disease-lookup/nontuberculous-mycobacteria/learn-about-nontuberculosis-mycobacteria
• https://www.cdc.gov/nontuberculous-mycobacteria/about/index.html
• https://www.nhlbi.nih.gov/health/cystic-fibrosis#:~:text=Cystic%20fibrosis%20is%20a%20genetic,Fact%20sheet
• https://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/symptoms-causes/syc-20353700
• https://www.hopkinsmedicine.org/health/conditions-and-diseases/cystic-fibrosis#:~:text=What%20are%20possible%20complications%20of,and%20can%20cause%20serious%20damage.
• https://www.cdc.gov/hemophilia/data-research/index.html
• https://www.mayoclinic.org/diseases-conditions/hemophilia/symptoms-causes/syc-20373327
• https://www.healthline.com/health/hemophilia-a/how-common-is-hemophilia#united-states
• https://archive.cdc.gov/www_cdc_gov/ncbddd/hemophilia/features/keyfinding-hemophilia-occurrence-US.html#:~:text=The%20average%20age%20of%20persons,common%20among%20persons%20with%20hemophilia.
• https://www.mda.org/disease/duchenne-muscular-dystrophy#:~:text=Duchenne%20muscular%20dystrophy%20(DMD)%20is,four%20conditions%20known%20as%20dystrophinopathies.
• https://www.cdc.gov/muscular-dystrophy/research/summary.html
• https://www.hopkinsmedicine.org/health/conditions-and-diseases/duchenne-muscular-dystrophy
• https://www.ninds.nih.gov/health-information/disorders/huntingtons-disease#toc-what-is-huntington-s-disease-
• https://hdsa.org/what-is-hd/overview-of-huntingtons-disease/
• https://www.yalemedicine.org/conditions/huntingtons-disease#:~:text=How%20is%20Huntington’s%20disease%20diagnosed,a%20positive%20or%20negative%20result.
• https://www.ucsfhealth.org/conditions/huntingtons-disease#:~:text=In%20the%20United%20States%2C%20Huntington’s,between%20age%2030%20and%2055.

Learn more

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