The Unholiday; or, Rare Disease Day

I have multiple rare diseases. I have been living as a rare patient since January 2012 when I was initially diagnosed with mast cell disease. I have collected some other rare diseases for my menagerie in the years since: adrenal insufficiency; Ehlers Danlos Syndrome, hypermobility type; Postural Orthostatic Tachycardia Syndrome; and mixed connective tissue disease with features of lupus and rheumatoid arthritis.

February is Rare Disease Month and the last day of February is Rare Disease Day. MastAttack originated as a exercise in educating people about mast cell disease with daily facts for Rare Disease Month. Over time, I moved those facts from my Facebook page to a blog. That blog evolved into the MastAttack you are currently experiencing.

I have planned for the last few years to do a daily posts in February with each post discussing a different rare disease that affects some mast cell patients. The fact that I was only able to get up two posts (and not even on consecutive days) is a pretty good symbol for what it is like to be a rare disease patient.

Despite recognizing its importance, I feel conflicted about Rare Disease Month. It’s not the visibility that bothers me because I committed to living my life very loudly years ago to empower myself and others in the mast cell community. It’s the transience of the focus. In February, people are inundated with stories about living and dying with rare disease. But on March 1, I’m still going to be here, with these diseases, and friends with these diseases, and the fear and uncertainty that goes with them.

This is not a celebration. We are not celebrating rare disease or even rare disease patients. This is a protest. A march. An event to record that we were here. A memorial, to remember those rare disease patients we lost this past year and all the years before. And a prayer, a deep and primal hope given to the universe that there will someday be a world in which there is no need for a Rare Disease Day.

Thank you for reading our stories this month. Thank you for learning about our diseases and our lives.

Remember us after today. Remember us every day.

Rare disease month, day 2: CVID (Common variable immunodeficiency)

Common variable immunodeficiency (CVID) is a primary disease of the immune system characterized by inability of B cells to generate an appropriate antibody response. CVID patients demonstrate low levels of serum IgG alongside other deficiency of IgM, IgA, or both. Diagnosis is based upon both serum immunoglobulin levels; decreased vaccine response; and exclusion of any other condition that could explain these inadequacies.

As the result of an inherent inability to properly defend against infection, CVID patients results in recurrent respiratory infections, both upper and lower. Specifically, encapsulated bacteria such as S. pneumoniae and K. pneumoniae are the most frequent pathogens. Atypical organisms like Mycoplasma spp. are known to cause infections in this population. Recurrent respiratory infection can cause chronic inflammation, leading to chronic sinusitis, hearing loss, bronchiectasis, and structural damage to the lungs.

CVID patients are at increased risk of complications beyond infections. Approximately 15% of patients develop cancer. 20-25% of patients report autoimmune disease. A significant amount of CVID patients with autoimmune disease have low blood counts as a result.

CVID can lead to known complications affecting the lymphatic system. 10-25% of CVID patients develop granulomatous lymphocytic interstitial lung disease. Enlarged lymph nodes occur in approximately 20% of CVID patients. Infiltration by lymphoid cells can be found in multiple organs, including kidney and liver.

Gastrointestinal manifestations are not unusual for CVID patients and can affect any portion of the tract. Inflammatory bowel disease is common. Of note, small bowel enteropathy is well documented in this population and may resemble inflammation seen in celiac disease. CVID patients may also demonstrate nodular lymphoid hyperplasia upon biopsy.

Treatment for CVID is based upon replacing the missing antibodies through administration of intravenous or subcutaneous gammaglobulin. While gammaglobulin replacement can help significantly with immune defense, CVID patients are still at risk for progression of organ damage. Specifically, obstructive or restrictive lung disease, along with bronchiectasis, may be stemmed by gammaglobulin replacement.

For more information, please visit the Immune Deficiency Foundation.

Reference:

Tam JS, Routes JM. (2013) Common variable immunodeficiency. Am J Rhinol Allergy, 27(4), 260-265.

Rare disease month, day 1: Adrenal insufficiency (Addison’s disease)

Adrenal insufficiency is a condition defined by inadequate production of glucocorticoids. Other hormones, such as mineralocorticoids and androgens, may also be deficient. Adrenal insufficiency was first characterized by Thomas Addison in 1855. For this reason, adrenal insufficiency is often called Addison’s Disease, particularly the primary form.

Cortisol is the dominant glucocorticoid in humans and performs a wide array of essential functions. It is well known as a driver of stress response and modifies metabolic functions to lessen the impact of stress on the body. Its primary functions include increasing blood sugar, blood pressure, and heart rate; bronchodilation; and dampening immune response and inflammation. Patients with adrenal insufficiency are dependent upon replacement steroids and require them daily.

Common symptoms of adrenal insufficiency include fatigue, weakness, weight loss, low blood pressure (sometimes seen as orthostatic hypotension), anxiety, nausea, vomiting, diarrhea, sweating, and personality changes, among others. Darkening of the skin is often a clinical sign seen in primary adrenal insufficiency.

Adrenal insufficiency is life threatening and can be fatal. Prior to 1949, when synthetic cortisone became available, AI was universally fatal via adrenal crisis (also called Addisonian crisis). Adrenal crisis is the manifestation of critical cortisol deficiency. Symptoms can include fever; seizures; psychosis; severe abdominal, back and leg pain; fainting; vomiting and diarrhea; and dysregulation of electrolytes, including elevated potassium and calcium and low sodium. The only treatment for adrenal crisis is immediate corticosteroid replacement. Patients with adrenal insufficiency are recommended to always carry hydrocortisone for IM injection in the event of an emergency.

Primary adrenal insufficiency affects approximately 4.4-6 people per million. 80-90% of cases in developed countries result from autoimmune adrenalitis/ autoimmune Addison’s disease. This condition is sometimes seen as part of autoimmune polyendocrinopathy syndrome, in which several other endocrines are also impacted. Certain infections, such as histoplasmosis, coccidioiodomycosis, and tuberculosis; adrenoleukodystrophy; adrenal hyperplasia; and use of certain medications can cause primary adrenal insufficiency.

Secondary adrenal insufficiency affects approximately 150-280 people per million. It is most commonly caused by long term use of glucocorticoids which disrupts the HPA axis, the collective term for the hormonal system the body uses to regulate cortisol levels. Other causes for secondary AI include curing Cushing’s Syndrome, tumors of the hypothalamus, pituitary tumors, and trauma to or surgical removal of the pituitary. Complete cessation of glucocorticoids for up to a year is often necessary to trigger endogenous cortisol production but this cannot always be done safely. Many patients with secondary AI require replacement steroids for life.

Cortisol impacts mast cells in several ways, which have been rehashed extensively here and here.

For more information on adrenal insufficiency: http://www.nadf.us

 

Reference:

Charmandari E, et al. (2014) Adrenal insufficiency. The Lancet. (Seminar)

I am rare

A year ago this week, I started writing regular posts about mast cell disease and chronic illness. In honor of Rare Disease Day, the last day of February, I decided to put up short posts on Facebook daily for the remaining days of February. I could not have predicted that this would eventually give way to a website that is visited thousands of times a month by people all over the world.

I wanted to write a post about having a rare disease and what it meant to be a rare patient, but I have actually been too busy dealing with my rare disease to do it. This week, it occurred to me that I actually have multiple rare diseases. Today, I learned that four of my diagnoses are classified as rare diseases in the US. I have four individual rare diseases. This is not uncommon for mast cell patients.

In the US, any disease that affects less than 200,000 at one time is considered rare. These diseases can be infectious diseases, cancers, genetic disorders, autoimmune diseases, and so on. Rare diseases are defined differently by different countries and organizations. Likewise, a disease can be rare in one region and common in another.

There are over 7000 known rare diseases. Worldwide, they affect 300,000,000 people. In the US, they affect 25,000,000. If all rare diseases live together in one country, it would be the third most populous country in the world.

Almost 10% of the American population has at least one rare disease. 2/3 of Americans living with rare disease are children. Currently, only 350 rare diseases have an FDA approved treatment. This means that most of the medications we use are not designed for us and we don’t know how they will affect us.

Almost half of primary care physicians in the US say they feel uncomfortable with taking on a rare disease patient. It can take us up to six years to receive a correct diagnosis. Some people are never diagnosed.

80% of rare disease patients have one of 350 rare diseases, with the rest being significantly more rare. Mastocytosis is not one of those 350 diseases.

 

My name is Lisa Klimas. I am 31 years old and I live with four rare diseases.

Mast cell disease causes severe allergic reactions to things I am not actually allergic to.

Ehlers Danlos Syndrome causes hernias, joint instability, and poor wound healing.

Postural Orthostatic Tachycardia Syndrome causes dysregulation of blood pressure and heart rate.

Mixed connective tissue disease causes autoimmune activity against various tissues in my body.

All of these conditions are chronic, incurable, and painful.  Together they can cause life threatening complications.

February 28th is Rare Disease Day. For many people, it is just another day. But for me, it is a celebration.

It is a reminder that there are other people like me all over the world.

Alone, we are rare, but together we are many.  We are strong.  We are an army.

My name is Lisa Klimas and I am rare.

 

I am rare

 

 

 

*All figures from the National Organization for Rare Disorders (NORD).