This is a blog about Adrenoleukodystrophy (ALD).
I am trying to raise awareness about ALD and hopefully raise funds for research for treatment of this terrible disease.
Most of you reading this will have no idea what ALD is or have even heard of it. You might have seen the movie Lorenzo’s Oil with Susan Sarandon and Nick Nolte, which was based on a true story. That movie is why I learned about ALD, but the movie was not accurate in explaining the full horror of what this disease is truly like.
If you want to understand what it is truly like then please watch this video: https://www.youtube.com/watch?v=s2Qc1yqG1XE
It is short and shows a very real depiction of what ALD can do to someone once they are diagnosed with it. It will only take up 3 minutes of your time, but you will learn more in those 3 minutes than you would if you spend 20 minutes watching Lorenzo’s Oil.
ALD is a rare genetic disorder that destroys myelin, an insulating layer on the nerves in the brain. There are many different types of ALD, and most of them show themselves at different ages and have different
Adrenoleukodystrophy, otherwise known as ALD, is an inherited genetic or metabolic disorder that affects the adrenal glands, spinal cord and the brain. The adrenal glands are small organs located on top of the kidneys. They produce a number of essential hormones that regulate body processes. The spinal cord is a long, thin bundle of nerves running down the middle of the back. It carries messages between the brain and body. One of its main functions is to protect nerve fibers that carry information to and from different parts of the body.
My name is Jeremy “Jerm” Mason and I am 26 years old with ALD. When I was 5 years-old, I was diagnosed with ALD in 1993 after my parents took me to see a doctor for some unexplained symptoms such as headaches, vision loss, difficulty walking, seizures and other medical problems. ALD is a X-linked genetic disorder so only boys are affected by this fatal disease. Girls can be carriers but never get sick from it because they get their father’s good X chromosome which protects them from developing the disease when their bad X chromosome doesn’t function properly.
ALD affects 1 in 20-21,000 people worldwide (Source: National Organization for Rare Disorders). This means that there are
Adrenoleukodystrophy (ALD) is a rare, inherited genetic disorder that affects 1 in 18,000 people. ALD attacks the protective myelin sheath that surrounds the nerve cells of the brain. This damages the nervous system and often results in paralysis and death. The average life expectancy for ALD patients is only 8-10 years.
There is currently no cure for ALD. However, new research has shown promise for future treatments of this incurable disease. Scientists have discovered a protein that helps protect against ALD; however, the protein is only found in the eyes of fruit flies. In order to identify this protein, scientists at National Institutes of Health injected fruit fly eyes with a genetic marker that would make them glow green under certain light conditions. Once they had successfully identified which eyes were glowing green, they took out those genes and tested them on mice with ALD. The result was amazing: 80% of these mice did not develop symptoms of ALD and lived longer than mice without this gene replacement therapy!
Although there are no FDA-approved treatments available right now, there are some things that you can do to prevent or slow down its progression:
• Eat well (no junk food!)
• Exercise regularly (at least 30 minutes
ALD is a genetic, neurological disease that attacks the myelin sheath of the brain. This gradually strips away the ability to walk, talk, think and function. The disease progresses very quickly in boys who are young at diagnosis. While this disease is rare and hard to detect, there are preventative measures that can be taken if you know someone is a carrier or if you have been diagnosed with ALD.
Many people wonder why it is worth it to go through all the testing and risk finding out that they are carriers of this deadly gene. I wonder why you wouldn’t? If you test positive then you can choose to have children knowing that they will not be effected by ALD. If your child has a 50/50 chance of being born with this disease wouldn’t you want to know? If you know your child has ALD then you can start preparing for this day. You can also learn as much as possible about ALD so that when your child does become symptomatic, you can get them the help they need as fast as possible.
If you are already symptomatic then there is still time! There are treatments available now that can slow down or stop the progression of ALD. A treatment called Lorenzo’s Oil has been proven to prevent ALD
The average life expectancy of a diagnosed individual is 20 years. This disease is most prevalent in men and children. Adrenoleukodystrophy is an inherited disorder that causes the deterioration of nerve cells within the brain and adrenal glands. The adrenal glands control your body’s response to stress and help maintain blood pressure, heart rate, blood volume, and metabolism.
The symptoms are normally first seen between the ages of 4-10 years old but can develop earlier or later. The symptoms can be very vague but some may include;
Difficulty with balance
Trouble following simple directions
Behavior changes
Slight decline in school performance
Trouble navigating to places they know well
Overall decline in cognitive function
Adrenoleukodystrophy (ALD) is a genetic disorder that affects 1 in 20,000 people, about the same rate as cystic fibrosis. ALD is caused by a mutation in the X chromosome, and one person in 26 carries the gene.
It’s not just a problem for those who have it. It’s also a problem for their families because it often takes them years to find out they carry the gene that causes it.
Those who carry the gene don’t know they have it until they become ill. But once they do, they can be treated before symptoms ever appear.
If you are carrying the gene, there are many ways you can help stop ALD from spreading in your family.
The most important thing to remember is that if you have ALD, you should get tested as soon as possible to determine if your children or grandchildren will inherit ALD from you.
Adrenoleukodystrophy (ALD) is a genetic condition that affects the adrenal glands and the white matter of the brain. ALD is one of a group of diseases called leukodystrophies. In addition to ALD, there is another X-linked form called adrenomyeloneuropathy (AMN), an adult onset form of ALD.
The disease affects approximately 1 in 20,000 people worldwide. Of these, 90% are boys and 10% are girls, who are carriers of the disease. Although girls do not display symptoms themselves, their female children have a 50% chance of being carriers and their male children have a 50% chance of being affected by the disease.
ALD is divided into three different forms: childhood cerebral, adolescent cerebral and adult cerebral. The most common form is childhood cerebral ALD. It usually occurs between ages 4 and 10 and progresses rapidly over a period of months or years. This is the form that was portrayed in the 1992 movie “Lorenzo’s Oil.” Adolescent cerebral ALD occurs between ages 11 and 20 and follows an intermediate course over several years. Adult cerebral ALD occurs after age 21 and progresses slowly over many years.
There is no known cure for ALD,
