H-ABC (hypomyelination with atrophy of the basal ganglia and cerebellum) is a rare genetic disorder that is difficult to both diagnose and treat. That is why spreading awareness of H-ABC syndrome and its impact on families across the globe is so crucial.
By taking this opportunity to look at…
The difficulties in diagnosing H-ABC
What life is like for those affected by it
The challenges faced in fighting H-ABC
…you can gain greater insight into the struggles that these families endure. Moreover, you can discover why educating those around you and spreading awareness is an essential role for the cause.
How Difficult Is It to Diagnose H-ABC Syndrome?
H-ABC can be extremely difficult to diagnose. This is due to a several factors.
For example:
H-ABC syndrome presents itself in different ways.
The condition is still relatively unknown in medical circles.
In-depth testing is required to reach a diagnosis.
First, H-ABC doesn’t affect a specific age group. Most children exhibit symptoms during infancy or early childhood; however, others may not show signs until later on. Additionally, the symptoms can vary from one child to the next, so it’s not always clear that something serious is going on.
Second, this rare disease affects a small percentage of the global population, which means there’s little research available. The majority of doctors are unaware that H-ABC syndrome even exists, so they often mistake it for another disorder such as MS. As a result, families can go months—even years—before getting an accurate diagnosis, spending countless hours visiting different doctors.
Third, coming to a diagnosis of H-ABC isn’t as simple as it is for other diseases. When a physician (usually a specialist) can make a diagnosis, they do so using a 3-part process:
Analysis of Physical Symptoms
As mentioned previously, H-ABC syndrome doesn’t present the same way in every child. That’s why the analysis of physical symptoms is just the first step.
Here are some examples of symptoms that specialists look for:
Low muscle tone
Poor coordination
Difficulty eating
Speech problems
Movement abnormalities
Rigidity
Deafness
Poor vision
Seizures
Attention and learning issues
Brain Imaging
Brain imaging is the next part of the process, as H-ABC syndrome targets certain parts of the brain and affects the white matter. Therefore, if a child has symptoms that suggest a neurological disorder such as H-ABC, the next step is to perform a scan of the brain.
Magnetic resonance imaging (MRI) of the brain is an important part of the diagnostic process. This type of procedure can detect brain tissue patterns that are characteristic of H-ABC.
Genetic Testing
Given that the cause of H-ABC is a mutation on the TUBB4A gene, the last part of the diagnostic process is to conduct genetic tests. This is the only way of confirming changes in the TUBB4A gene.
To arrive at the diagnosis of H-ABC, specialists perform genome sequencing using blood samples.
What Does Life Look Like for Those Affected by H-ABC?
Those with H-ABC require constant, specialized care. Families affected by this condition do everything in their power to ensure their children have a good quality of life.
It can be tough to imagine what every day is like for those who have children with H-ABC syndrome, especially since no two cases are exactly the same. However, the following can shed some light on the struggles that these families endure.
Frequent Medical Appointments
Many children with H-ABC syndrome visit the doctor weekly—if not more often. As few doctors are well versed in this disease, some families have to drive hours just to see a specialist.
Additionally, many of the children who suffer from H-ABC experience motor and speech issues, which means families schedule daily or weekly appointments for physical and speech therapy.
Treatments to Combat Symptoms
As there’s no cure for H-ABC at this time, treatments are only available to combat the symptoms of the disease. To help alleviate discomfort and manage the symptoms, parents often have no other choice but to schedule medical procedures or put their children on daily prescriptions.
Some examples include:
Surgery to insert a feeding tube when eating becomes impossible
Routine injections to calm muscle spasms
Medications to prevent or at least reduce the severity of seizures
Undergo orthopedic surgery like spinal fusion or hip surgery due to impact the disease has on the skeletal body
In many cases, these treatments grow less effective over time.
Changes to Home Life
H-ABC syndrome typically brings several changes to home life, affecting the atmosphere and actual setup of the home.
Oftentimes, one of the parents becomes the primary caregiver after reducing their hours at work or leaving completely. This can be a major adjustment for families, especially since caregiving brings its own set of challenges.
Additionally, families usually alter the house by installing ramps, handrails, special bath equipment, and more. Further, many welcome therapy animals into the home as a way of providing their children with support and companionship.
Concern over Illness
Those affected by H-ABC also have to worry more about issues such as cold, flu, and COVID-19. Although every parent strives to protect their child from falling ill, those who have little ones with this condition have to be especially careful.
Children with H-ABC have a greater risk of ending up in critical condition after becoming infected. Parents and siblings have to take extra precautions to protect themselves and avoid passing anything along to their loved ones.
Why Is the Fight against H-ABC So Challenging?
The fight against H-ABC syndrome is a challenging one due to the nature of the disease itself, along with the lack of attention it receives and the absence of a cure.
H-ABC is a progressive disease, which means that it becomes worse over time. Those with this condition slowly lose body functions until it’s too late. Additionally, the fact that it’s caused by a genetic mutation makes it impossible to treat effectively without the right approach.
Furthermore, H-ABC is a rare disease that just doesn’t receive the attention it should. Most people, including medical professionals, don’t know it exists. As the number of individuals who suffer from the condition is relatively small, pharmaceutical companies don’t see the value in creating drugs and treatments.
Takeaway
H-ABC syndrome is a debilitating condition that’s difficult to diagnose and treat. However, educating others about this disease can help bring attention to it and pave the way to a cure.
By taking the opportunity to learn more about how H-ABC affects families across the globe—and encouraging others to do the same—you can play a role in ensuring these children get the care they deserve.