Speaker Series - Adrenoleukodystrophy (ALD) Disease
In the latest episode of our Speaker Series, we spoke to Taylor Kane who is a patient advocate for adrenoleukodystrophy (ALD) disease and lives in New Jersey, US. The genetic condition only affects 1 in 20.000 people and is often misdiagnosed because the symptoms can be confused with many other diseases. ALD affects the largest part of the adrenal gland, known as the adrenal cortex, as well as the central and peripheral nervous system. Symptoms may include, but are not limited to, hyperactivity, lack of coordination and difficulty swallowing. Over time, progression of the condition due to deterioration of the nervous system can lead to dementia and ultimately death. The disorder is linked to the x-chromosome, which means that it is most commonly in men. As a consequence, ALD is more likely to be missed in women, which has a significant impact on their quality of life. There currently no specific treatment, however some people living with the condition benefit from bone or stem cell transplant therapy.
Taylor’s father Jack was diagnosed with ALD in 2001. He lost the ability to walk and talk, and found it difficult to swallow. Eventually Jack sadly developed dementia and passed away in 2003.
After the loss of their father, the family set out on a mission to raise awareness of ALD, advocating for other people living with the condition and lobbying for the inclusion of ALD in newborn screening. Newborn screening plays an important role in earliest possible diagnosis, which means the condition can be treated early in life. The earlier a child can be given a bone or stem cell transplant, the greater chance of treatment success.
Ten years after Jack was first diagnosed, a new screening test was finally developed that could be used in newborn screening panels. Two years later in 2013, thanks to Taylor’s lobbying efforts the test was approved for addition to the screening. Unfortunately implementation has been very slow and still today the test is not yet in place but the family are hopeful that it will come into practice one day soon.
As the condition is genetic, Taylor and her sister also inherited ALD, but because it is linked to the x-chromosome, they were advised that they would not experience physical symptoms. This is because the condition is not well understood and for a long time it was thought that the second, healthy x-chromosome would negate the impact of the affected chromosome. This is not the case; almost 90% people who carry the ALD gene will eventually experience symptoms, although in women these tend to present later in life.
Carriers are generally not routinely monitored or considered for inclusion in clinical trials. During highschool, Taylor started to consider how being a carrier of ALD might impact her life experiences and so in 2014 she set up a support network called Remember The Girls. One of the biggest challenges was finding other young women who were also ALD carriers because many women, who do not experience symptoms earlier in life, do not know they carry the ALD gene until they have a son who is diagnosed with the condition. Remember The Girls still is providing support today for 120 people around the world.
Through college, Taylor’s interest in rare diseases deepened and she went on to form a non-profit organisation called Remember the Girls, which focuses on conditions linked to the x-chromosome and challenges the perception that women are ‘unaffected carriers’. One of the biggest challenges and worries for these women is family planning - making decisions about the future can be very difficult for all those involved. The non-profit provides support for those affected by genetic conditions, hosts advisory and educational groups as well as advocating for the wider community.
What we’ve learned from Taylor:
- Change in health systems can be very slow - Taylor’s story is an example of how systems and processes can create barriers to early diagnosis for people with rare diseases.
- It is also important to diagnose carriers as well as those who do not have active symptoms. In the absence of symptoms, people carrying the genetic marker can often be overlooked or be misdiagnosed.
- Newborn screening is critical for ALD is because the earlier the diagnosis, the better chance of success from a bone marrow or stem cell transplant
- There are many misconceptions about women who are carriers of X-linked conditions. We’re often referred to as asymptomatic carriers, however almost 90% of ALD carriers develop symptoms of the disease at some point in their lives.
- People often do not know that they are an ALD carrier until they have a son who is diagnosed with the condition.
- Many carriers experience loss in their own families or guilt for passing the condition on to their child - for people who are affected can experience the future can feel very scary and uncertain
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like 10 million patient-disease scans: 5 lessons we’ve learned Speaker Series - Niemann-Pick Disease Type C