Rare Disease Spotlight: Asplenia

By Barby Ingle, PNN Columnist 

If you have been following my series on rare diseases or read any of my books, you already know that I live with multiple rare diseases.

I was fortunate to live to the age of 29 before developing any symptoms. Others are not as lucky. There are over 7,000 rare diseases, and I find that the ones that catch my attention the most are those that affect infants and young people, such as asplenia and Alexander disease. 

One of the people I met while advocating for chronic and rare diseases in Arizona is Allison. Her son Travis passed away at the age of four due to complications of asplenia. In his memory, she started a nonprofit called TEAM 4 Travis.

Allison’s son was a bright, smiling little boy who was born without a functional spleen, an organ that helps filter the blood as part of the immune system. That is what asplenia means; the absence of a spleen. If Travis had been checked during newborn screening, he might still be alive today.  

My stepsister Melanie lost her spleen in an auto accident at the age of six, but was able to live into her early thirties. She passed away due to complications of one of the same rare conditions that I have, Reflex Sympathetic Dystrophy (RSD).  

TRAVIS AND ALLISON

Those who have had a splenectomy (Melanie) or are born with missing or nonfunctional spleen (Travis) are immunocompromised, which puts them at increased risk for severe and overwhelming bacterial infections, particularly from encapsulated bacteria.

Melanie's doctors knew she no longer had a spleen, so she was able to take medications that took on the role of a spleen. Travis was not so fortunate and lost his life due to an infection. It was only discovered after he passed away that he had asplenia.

Every time I go with Alison to talk to our legislators and hear the story of Travis, it gets me emotionally because this is a loss that could be prevented. That is why we advocate for newborn screenings in Arizona and other states.

Alexander Disease

The other spotlight I wanted to shine this month on a rare disease that affects children is Alexander disease. There is not a lot of talk about this condition or how it affects a family on a personal level. I can imagine that it would be quite difficult to lose your child to a neurodegenerative condition.  

Alexander disease is a genetic disorder that primarily affects infants and young children. If symptoms begin before the age of two, chances are the child will pass before their sixth birthday. In cases of adult and juvenile-onset, one can live and manage Alexander disease longer. However, as with RSD, infants, youths and adults have different symptoms, onsets and challenges.  

An infant with Alexander disease will show symptoms like an enlarged brain and/or head size. They may also have seizures, dystonia, and developmental delays that are easy to spot by providers and parents.

In adult-onset Alexander disease, symptoms can be fluid. The brain may show signs of swelling, but it will come and go, causing atrophy over time. Doctors will see lesions in the brain stem and upper spinal cord under contrast enhancements. When earlier stages of the disease are not treated, it can lead to vocal cord paralysis. 

You can learn more Alexander disease and asplenia by visiting the National Institutes of Health. There are also clinical trials developing new treatments for both of these conditions.

If you need support for Alexander disease as a patient or caregiver, you can turn to the United Leukodystrophy Foundation. If you need support for asplenia, please check out Allison’s TEAM 4 Travis Foundation.

Barby Ingle lives with reflex sympathetic dystrophy (RSD), migralepsy and endometriosis. Barby is a chronic pain educator, patient advocate, and president of the International Pain Foundation. She is also a motivational speaker and best-selling author on pain topics. More information about Barby can be found at her website.

Rare Disease Spotlight: Alexander Disease

By Barby Ingle, PNN Columnist  

February 28th is Rare Disease Day, a global effort to raise awareness about over 7,000 rare diseases and their impact on people’s lives. One of those rare diseases is Alexander disease, which is named after Dr. W. Stewart Alexander, the Australian physician who first described the condition in 1949.

Alexander disease is an autosomal dominant leukodystrophy, which are neurological conditions caused by anomalies in the myelin, a fatty substance which protects nerve fibers in the brain. It’s a rare genetic disorder that primarily occurs in infants and children.

Leukodystrophies are characterized by abnormalities in the brain’s “white matter” which lead to the formation of Rosenthal fibers -- abnormal clumps of protein that accumulate in the brain. Rosenthal fibers are also found in other neurological disorders, such as multiple sclerosis.

Alexander disease is progressive and usually fatal, especially when it develops in infants. The disease occurs in both males and females, and there are no ethnic, racial, geographic, cultural or economic differences in its distribution. It can strike anyone.

The most common type of Alexander disease usually begins during the first 2 years of life. Most children with the infantile form do not survive past the age of six. Juvenile and adult-onset forms of the disease have a slower, lengthier course.

People who develop symptoms later in life may not be aware they have Alexander disease and are often misdiagnosed. Symptoms include excessive vomiting, difficulty swallowing and speaking, poor coordination, pain and loss of motor control. These symptoms mimic those of Parkinson’s disease and multiple sclerosis, or they may be seen as a psychiatric disorder.

For children with Alexander disease, there are delays in mental and physical development, often followed by an abnormal increase in head size and seizures. Chronic pain is a daily occurrence. There is no cure for Alexander disease, but there are treatments that focus on keeping patients comfortable and minimizing symptoms.

Recent studies show approximately 90 percent of people with Alexander disease have a mutation in the gene that makes glial fibrillary acidic protein (GFAP), a protein found in the brain. In most cases these mutations occur spontaneously and do not appear to be inherited from parents.

Current research is aimed at understanding the genetic mutations that cause Alexander disease, developing better animal models for research purposes, and exploring new strategies for treatment. Researchers are also looking for biomarkers for the disease, which would be a major advancement in diagnosis and early treatment.  

There are support groups for patients and families affected by Alexander disease, such as the United Leukodystrophy Foundation. You can find more information on Alexander disease and other rare conditions at the National Organization for Rare Disorders.

Barby Ingle lives with reflex sympathetic dystrophy (RSD), migralepsy and endometriosis. Barby is a chronic pain educator, patient advocate, and president of theInternational Pain Foundation. She is also a motivational speaker and best-selling author on pain topics. More information about Barby can be found at her website.