Understanding the TUBB4A Gene: What It Is and How It Relates to H-ABC

Genetic disorders such as hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) can be tough to grasp. This is largely because research on rare diseases is lacking. At the Foundation to Fight H-ABC, one of our goals is to educate affected families and interested advocates. That’s why we wanted to take this opportunity to provide an overview of the TUBB4A gene, looking at… 

• What this gene actually is

• When it was discovered

• What causes a mutation in the gene

• How the gene relates to H-ABC

• What research is being done

By learning about this gene, you can gain a deeper understanding of the role it plays in related disorders such as H-ABC.

Let’s get started…

What Is TUBB4A?

TUBB4A, which stands for tubulin beta-4a, is one of the many genes that code for proteins. This gene provides instructions for making beta-tubulin (β-tubulin)—a protein found primarily in the brain, specifically the basal ganglia and the cerebellum. β-tubulin belongs to a family of proteins that form and organize structures known as microtubules.  

A Brief Introduction to Microtubules

As mentioned above, β-tubulin is one of two proteins that make up microtubules. The other protein is alpha-tubulin (α-tubulin), which is produced from the TUBA1A gene.

Here’s a simplified explanation of how microtubules are created:

1. The β-tubulin and α-tubulin proteins join to form a dimer.

2. These dimers then form polymers—long, repeating chains of molecules.

3. The polymers are then put into a sheet and rolled up to create a tube.

Essentially, microtubules are rigid, hollow cylinders composed of tubulin. These microtubules are a key component of the cytoskeleton, which is a network of filaments that exists in the cytoplasm of eukaryotic cells.

What do microtubules do?

The main purpose of microtubules is to support and give shape to the cell. However, they serve a few other important functions. For example, as the brain develops, microtubules help transport nerve cells to the right location. This process is known as neuronal migration.

When Was the Gene Discovered?

To give you a brief history, the gene was identified by researchers back in 1984 and originally designated as 5-beta. Since then, a lot of information about this gene has come to light…

In 2010, a group identified eight major β-tubulins, including TUBB4A, which they referred to as TUBB4. Then, in 2013, another group examined the presence of this gene in the brain, discovering the highest expression to be in the cerebellum; this part of the brain plays an important role in muscle control and movement. That same year, researchers performed gene mapping and traced the gene to chromosome 19p13.3.

What Causes a TUBB4A Gene Mutation?

In most cases, a change in the TUBB4A gene is a random mutation. Typically, neither parent is a carrier, which means the chances of having multiple children with the mutation is low. However, if a parent does carry the mutation in some cells (usually due to mosaicism, when a person has two or more genetically different sets of cells), they could pass it along to their children.

How Does This Gene Relate to H-ABC?

The connection between this gene and H-ABC is simple: A mutation in this gene is what causes the disorder.

H-ABC is a type of TUBB4A-related leukodystrophy, a disease that affects the white matter of the brain. The 52 conditions labeled as leukodystrophies disrupt the growth or maintenance of the myelin sheath. This protective layer insulates nerve cells and allows messages to be transmitted between cells. In the case of H-ABC, hypomyelination occurs. This means the body doesn’t produce myelin at normal levels, so the process of forming that protective layer can’t be completed. Additionally, the condition reduces the size and function of the basal ganglia and cerebellum. However, it’s worth noting that not all individuals with the gene defect have every aspect of H-ABC; some have hypomyelination but not atrophy of the parts of the brain mentioned above.

When there’s a mutation in this gene, it alters single protein building blocks—also known as amino acids—in the β-tubulin. In most cases, H-ABC presents when the mutation results in the replacement of one amino acid with another. An example would be the replacement of aspartate with asparagine. It’s believed that these kinds of mutations change the structure of β-tubulin, which then affects the formation or structural integrity of the microtubules it helps form.

How does it all tie together?

At this time, it’s still unclear how such genetic changes cause the symptoms of TUBB4A-related leukodystrophy, with some examples including…

• Seizures

• Deafness

• Involuntary movements

• Poor coordination

• Speech problems

• Difficulty eating

• Loss of balance

• Attention problems

However, researchers suspect that problems with microtubules affect neuronal migration or the transport of key substances within neurons. This may lead to the dysfunction and loss of these cells in the brain—the white matter in particular.  

What Research Is Being Done on TUBB4A and Leukodystrophies Such as H-ABC?

As stated before, researchers have uncovered quite a bit about the TUBB4A gene. Because of their efforts, we know what the gene does, where it’s located, and how it can affect the body when a mutation is present.

Now we need to figure out how to treat and prevent the diseases that result from its mutation. This is what researchers are working on now. The good news is doctors and scientists have already made significant headway by…

• Completing cellular-level research of H-ABC

• Researching the biological makeup of this disorder

• Developing a natural history study

Although genetic disorders such as H-ABC aren’t easy to fight, gene therapy has proven itself to be a promising method of curing cellular-level diseases. This can be done in one of three ways:

1. Reduce the expected toxicity to cells from the mutated tubulin by using an approach that captures RNA before it becomes proteins (antisense oligos or ASOs). The advantage of this type of approach is a relatively well-established treatment for certain neurodegenerative conditions.

2. Out-compete the mutant tubulin through overexpression of wild type (i.e., correct) TUBB4A in the cell via adeno-associated virus (AAV). This is a specific virus engineered to deliver the correct mutation to targeted cells.

3. Correct the mistake in the tubulin gene through a highly novel gene-editing approach that can correct spelling mistakes in genes (using CRISPR to correct the mutation at the DNA level). This approach is still very new.

Once the doctors and scientists involved in this research determine the best approach for gene therapy, we can proceed to the next step—getting FDA approval to conduct a clinical trial.  

However, it’s important to note that clinical research can’t move forward without proper funding. That’s why we need to generate greater awareness of H-ABC and other leukodystrophies caused by a TUBB4A mutation.

Takeaway

Genetic disorders such as H-ABC can be hard to understand at first. That’s why it helps to get some background information. Once you trace the condition back to its source, you begin to see how the tiniest defect can have a major impact. In this case, you can see how a defective TUBB4A gene can lead to a debilitating disease like H-ABC.

Take this opportunity to learn more about the gene responsible for H-ABC. And be sure to share this information with others. By giving related leukodystrophies such as H-ABC the attention they deserve, we can help experts perform additional research so they can find a cure.   

3 Things I Want People to Know about Kids with Rare Diseases

Kids with rare diseases (and their families) just want to receive the same kindness, respect, and consideration as anyone else.

With that in mind, here are 3 important things I want people to know and think about…

1) Kids with Rare Diseases Want to Have Friends.

Our kids want to have friends just like yours do! Encourage your child to reach out to kids with rare diseases such as H-ABC in a manner that’s natural—not forced or because it’s the right thing to do.

Children like Elouise can be great pals to other kids, as long as other kids are willing to adjust to certain limitations. There is so much they can do together once they figure out how to communicate!

Many times, I’ve seen parents use us as a means to teach their kids how to give back to those less fortunate. I understand what they’re trying to do. However, if this isn’t done in a natural way, it’s not sincere and it makes it difficult to foster a natural relationship. And, frankly, my child isn’t a teaching exercise. She’s a wonderful, happy little girl who loves people. 

2) These Children (and Their Families) Want to Be Included.

Children with rare diseases want to be included, and the same goes for their families. So, please don’t exclude us. Perhaps make that extra effort to include us, even if we turn you down initially. All too often, we are stereotyped. This is likely done unintentionally, but we are.

As the mother of a child with a rare disease, I tend to stay away from others when it comes to social activities. This is only because I don’t fit the mold and my child doesn’t fit in, much less have the ability to participate.

Most people are—on the surface—kind, but unless we are extroverted, parents affected by rare disease typically shy away from others and find solace within our own circles. It’s simply because we are better understood by those who are experiencing the same things or at least familiar with our situation. 

Kids with H-ABC vary in terms of their symptoms and abilities. Some have limited obvious symptoms (until they have to move or speak), whereas others have symptoms that are much more apparent.

When in doubt, imagine if your child had a neurological condition. How would you want to be treated?

3) Those Affected by Rare Disease Should Be Accepted and Treated Like Anyone Else.

When you meet kids with rare diseases and their parents or caregivers out and about, please don’t stare. 

Initially, I would get really annoyed when people would stare or turn around to look, knowing a child is disabled and curious to see just how afflicted they are. I’ve even experienced someone referring to a child with a neurological condition as “it.”  

Those of us affected by rare disease want nothing more than to be accepted and treated like anyone else.

Eventually, I came to realize that people just can’t help it. So, instead of getting upset, I smile and say, “Hello, meet Elouise.”

How I’ve Worked to Give My Daughter a Happy Childhood Despite Her Condition

At this point, my focus is on giving my daughter, Elouise, a happy childhood and letting her experience as much as she can in life, which is very difficult due to her lack of mobility.

Making Memories

Recently, we took her skiing using an adaptive ski service, which took her up and down the slopes in a special chair with three assistants. She loved it.

We set up a track in our home to which she is attached via a secure vest and is able to walk with her dog and dance with us!

We try to go to different places so she can see the beach, the mountains, and more. Additionally, she loves animals, so we try to do as much as we can around them.

The Challenges We Face in Giving Our Daughter a Happy Childhood

Friendships

Although most people are kind, Elouise has no close friends who come over and spend time, which is very sad because she loves people. Even more difficult is how she and, to a degree, we as her parents are excluded. We know it’s not done intentionally. It’s just the way it is.

As an example, Elouise can’t do sleepovers at someone’s house; she just needs too much care and oversight. We’ve done a few at our house in earlier years, but after a while, the kids lose interest given her inability to do most everything. At age 14, this is even harder, as friendships are a key part of having a happy childhood.

This saddens me more than anything else does. Without her family, she has very little.

Future Considerations

We also have to make plans for extended family to be there for her if something happens to us, and that is a lot to ask of anyone.

The last thing we would ever want for her is to be in an institution, which is a factor every parent of a disabled child has to take into consideration and plan for.

Living in the Moment & Providing Protection

I try not to think about what Elouise is missing; I just try to enjoy the moment. She is a happy child and that makes things much easier.

Elouise is cognitively at an age-appropriate level, although her exposure to things kids her age see is entirely different given her lack of emotional ability to process or understand certain things. I don’t know to what extent she grasps her situation other than I don’t think she knows any different.

Her memories from her younger years when she was more mobile are limited.

I never see her show resentment or anger toward her situation. She is extraordinarily unaffected in this respect, which is a blessing and helps in ensuring she has a happy childhood.

In some respects, given her very limited life experiences, she is shielded by many of the trials, difficulties, and dangers that kids her age experience these days. I don’t know if that’s a blessing, but her life is surrounded by positive things and she is very protected from the world. This is largely due to her inability to make any decisions for herself given her level of maturity, lack of physical capabilities, and the constant adult supervision needed to take care of her.

We are very mindful of making sure she is surrounded by kind and trustworthy people, and frankly avoid situations or exposure to any unnatural or negative influences currently rampant in society today. As such, our life has become somewhat reclusive, hers even more so, but I don’t think there is an alternative. This may be common to many kids and families affected by similar neurological conditions, not just H-ABC.

5 Reasons the Foundation to Fight H-ABC Is a Great Cause to Support

As someone who is passionate about helping others and making a difference in the world (especially during challenging times), you’re always on the lookout for another great cause to support. Having learned a little bit about the struggles that those affected by H-ABC go through every day, it’s likely you’re interested in getting involved. However, you want to be sure that your contribution—whether it’s time, money, or both—is going to make a positive impact.

We want to show you how it can.

Here are 5 reasons why this cause is one worth supporting and what you can look forward to in aiding our organization’s efforts…

1) You Can Play a Role in Funding Important Medical Research.

One of the benefits of joining us in the fight against H-ABC is that you’ll be able to contribute to the advancement of medical science. Our primary aim is to assist doctors and scientists in their quest for a cure, which requires a significant amount of clinical research. However, what you may not know is that this research has the potential to help people suffering from other conditions in the future.

When those in the medical field have the funding they need to carry on their work, they’re able to find new methods of detection, diagnosis, treatment, and prevention. But the possible applications of their findings can extend far beyond the disease they’re studying. These findings can help in treating conditions that are similar.

Further, it’s not uncommon for breakthrough medical discoveries to be made on accident… Several vaccines, diagnostic tests, and treatments have been developed while studying something completely different.     

Ultimately, every discovery that’s made in an attempt to cure H-ABC is one that can be applied elsewhere, saving even more lives in the process.     

Whether you donate yourself or encourage others to do so, you’ll be playing an important role in furthering research for the good of all! 

2) You Can Assist in Raising Awareness of a Widely Unknown Disease.

By getting involved with the Foundation to Fight H-ABC in any capacity, you can also assist us in extending our reach, putting a spotlight on a disease that’s still widely unknown. Although the number of cases is on the rise, most people (including many health-care professionals) don’t know it even exists. Through our efforts and those of our supporters, we’re working to change this so the children who suffer from the disease don’t go overlooked.

Sadly, rare diseases such as H-ABC simply don’t get the attention and funding they deserve. As a result, families struggle to find doctors who are knowledgeable and treatments that can combat the symptoms. Although this isn’t fair, as rare diseases deserve just as much scrutiny, it is the current reality. But the good news is you can bring us one step closer to a new reality—one in which conditions aren’t ignored just because they don’t afflict as many people as others do.

It’s something we’ve said many times before, but it’s a message that bears repeating: No act of kindness is too small in supporting the fight against H-ABC.

There are various ways to take action and help raise awareness, making this a great cause to support.  

3) You Can Help Find a Cure for a Debilitating Condition.

Another reason ours is a great cause to support is the fact that doing so allows you to help find a cure for a disabling disorder—one that slowly robs children of their ability to walk, talk, eat, dress, and bathe without assistance.

The symptoms of H-ABC vary from one child to the next, but some examples include the following:

• Speech problems

• Difficulty eating

• Poor coordination

• Seizures

• Attention issues

• Deafness

• Learning difficulties

Further, those with H-ABC are particularly vulnerable to viruses, including COVID-19. As their bodies are already dealing with one health condition, they’re unable to fight off acute infections. Complications can arise and an afflicted individual could end up in critical condition. 

Worst of all, the life expectancy for those with H-ABC is shortened. As the disease progresses, body functions continue to decline until it’s too late…

By getting involved in the fight against H-ABC through donating or volunteering, you can help fuel research for a cure and put an end to its progression.

4) You Can Feel Confident You’re Supporting a Trustworthy 501(c)(3) Organization.  

An additional benefit to joining us is that you can rest assured any donation you make is going exactly where it should. As a certified 501(c)(3) organization, our foundation is fully authorized and recognized by the IRS as a nonprofit charity. This means you can have peace of mind knowing you’re giving to a legitimate nonprofit.

All proceeds go directly to efforts for curing H-ABC. The donations we receive are used for several purposes, such as funding the genetic research and related costs as well as establishing facilities where doctors can study patient data—all of which is part of the process for finding a cure.

Further, getting involved with the Foundation to Fight H-ABC allows you to receive a tax deduction for charitable giving. Chances are you’re not looking to donate for any sort of monetary gain; you’re looking to make a difference in the lives of others. However, it is a nice bonus that you can claim your contribution as a deduction when tax season rolls around.

However you choose to help, you can trust that you’ve chosen a great cause to support!

5) You Can Be a Hero to a Child (and Family) Affected by H-ABC.

Perhaps one of the most compelling reasons to join the fight against H-ABC is that it offers the opportunity to be a hero to those affected by the disease. Given the current goings-on, it’s a role that you’re likely eager to take on.   

As of today, fewer than 200 cases of H-ABC have been identified, but that number is on the rise. When families are given the diagnosis, they have a hard time adjusting to their new normal. They need support. They need education. But most of all, they need hope for a cure.  

When you decide to support our foundation, you provide families with all of those things and more. You demonstrate your compassion, kindness, and empathy. You show that you’re committed to fighting alongside them. 

In short, you become a hero.

In Summary – The Foundation to Fight H-ABC Is a Great Cause to Support

As you’ve learned, there are several benefits to getting involved with the Foundation to Fight H-ABC. We’re proud of what we’re doing and what we’ve accomplished so far. Moreover, we’re grateful that caring people like you have decided to join our fight.  

If you believe ours is a great cause to support and you want to aid our efforts, take action today! 

Coping with a Sick Child: Where I Find Hope on Dark Days

From an outside perspective, it would seem that our situation in terms of coping with a sick child is very difficult. However, the truth is that this didn’t happen overnight. Like anything else that is handed to you in life, there is a process you go through:

• First, you react to the issue.

• Then, you adjust your life accordingly.

• Then, a new normal ensues.

Focusing on What Really Matters

Over the years, we have adjusted our life to meet our child’s needs and adapt to her condition. Our priorities used to be our work, our social life, our athletic activities, our family, and our church. Now, however, our top priority and focus is mainly Elouise—maintaining her health, keeping her active, and showing her everything we can in life given her limitations.  

For me that is my mission: to keep my daughter healthy and happy. 

Coping with a Sick Child during Hard Times

When times have been tough, it has usually been tied to the progression of her condition—specifically when surgery has been required.

Elouise has done very well in each case. Outside of her condition, she is very healthy overall. Other children have more chronic internal or neurological issues that, on an ongoing basis, would frankly be even more difficult to handle.

As parents of kids with H-ABC, we have come together in support of one another and have provided each other with amazing resources to help. We’re able to relate with each other, as we understand the struggles that go along with coping with a sick child. Moreover, we take every opportunity to learn from one another and share information.

At this point, we as the parents probably know more about this condition than the medical professionals do.

Taking on an Important Mission

In between our focus on Elouise, we are working on trying to figure out ways to expand our foundation’s presence so we can help find a cure, get more attention, and gain national recognition. In many ways, this endeavor is somewhat therapeutic. 

I have found there to be so much kindness in this world—in many cases, from people we don’t even know! The number of people who have come forward wanting to help in some way is surprising and truly inspirational. 

Holding on to Hope

Lastly, coping with a sick child requires hope. And my hope comes from a higher power. One thing we have come to learn is that you just don’t know what might happen, who might come forward, and how that could help.

We cannot do that without getting the word out and drawing attention to the disease. 

Don’t get me wrong… There are days that are dark, and not one day goes by without me wondering what is in store for Elouise and, in turn, us. But if you allow that to get the better of you, then you are losing sight of the good things that can happen.

Without your faith, then if you give up, you have no hope!

How My Daughter’s Diagnosis Made Me into an H-ABC Leukodystrophy Expert

When we first heard of H-ABC leukodystrophy, there was very little data available. In fact, although the condition had been under investigation in Europe, it wasn’t until 2014 that the gene causing the defect was identified in the U.S. However, Elouise had symptoms that were progressing many years before we finally received the diagnosis (which happened when she was 8 years old). 

At around age 3, Elouise began showing signs that something wasn’t right. She had balance issues, would often fall over, and experienced speech delays. After she started pulling up her right arm when running, a professional from the county’s Infants and Toddlers Program suggested we get an MRI, which confirmed the undersized cerebellum and the delayed myelination. 

An Endless Journey of Test after Test

Prior to her diagnosis, we had gone through every test imaginable, including...

• Heart tests

• Lung tests

• MRIs (which showed lack of myelination)

• Motion testing

No one had answers, which is apparently not uncommon for many neurologic conditions. Therefore, some doctors gave generic diagnoses such as cerebral palsy. Others suggested conditions like ataxia that were tied to her symptoms.

One doctor even wanted to take a biopsy of her muscles and send it away for testing. At that point, we said she had been through enough. She had so many blood tests done.

Then, finally, a genetic doctor suggested performing genome sequencing, which is when they discovered she had the TUBB4A gene defect—otherwise referred to as hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). 

The Quest for Information on H-ABC Leukodystrophy

When we started researching the condition, we found only one or two references online at that time. Thankfully, there is much more data available now. 

Once we received Elouise’s diagnosis, we were very worried and frankly didn’t know what this meant for her future, as the doctors were telling us she wouldn’t live into adulthood. After several months of shock, we decided to take matters into our own hands and get the word out. We created the nonprofit to help raise awareness and funds to assist with the research that was already underway. 

We were not going to give up and let H-ABC leukodystrophy get the better of us.

Although it’s been a difficult journey, I’m grateful that I can now help other families. Parents are often the best resource experience wise, and those of us within the H-ABC community strive to offer one another as much support, education, and comfort as possible. I often receive questions from folks whose children have recently been diagnosed with the condition and want to learn more.

I’m glad that I’m able to direct those who have questions to our own website and the CHOP (Children’s Hospital of Philadelphia) website so they can educate themselves about the condition, what treatments are available to help with symptoms, and what work is being done in finding a cure. CHOP in particular is very responsive in helping families who are affected by H-ABC leukodystrophy, even those who are located overseas.

A Closer Look at H-ABC Syndrome: Why It’s Difficult to Diagnose and Treat

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.

How Families and Children with H-ABC Are Affected by the Coronavirus

Given the current COVID-19 crisis, we’re all concerned about the health and safety of our loved ones. Chances are you’re taking precautions to prevent your own family from being seriously affected by the coronavirus.

However, the actions you take can do more than just safeguard those closest to you. They can also help in protecting those who are at higher risk of becoming severely ill from this disease, such as children with H-ABC.

This is a challenging time for all of us, but it’s important that we work together to control the spread of COVID-19, be responsible for the choices we make, and keep vulnerable groups such as children with H-ABC top of mind.

Here’s why…

Why Those with H-ABC Are Especially Vulnerable to This Illness

Although anyone can contract COVID-19, some are more vulnerable to this illness. The CDC notes that two groups are at higher-than-normal risk of developing severe forms of the virus:

• Older adults age 50 and above

• People with underlying health problems

Along with issues such as heart disease and asthma, neurological conditions are on the list of health problems that make people more susceptible to the worst of COVID-19.

As H-ABC is a rare genetic disorder that targets certain parts of the brain, children with it are among those at high risk of being seriously affected by the coronavirus.

You see, those who suffer from H-ABC are already dealing with one health condition. As a result, their bodies don’t have the energy needed to defend against an acute infection like the coronavirus.  

Even the flu or common cold can prove dangerous to children who have H-ABC. In some cases, complications can arise and lead to pneumonia, which those with compromised immune systems struggle to fight off.

If a child with H-ABC catches COVID-19, there’s a strong possibility they could end up in critical condition. That’s why our extended H-ABC family is on high alert.  

Other Ways in Which Those with H-ABC Are Affected by Coronavirus

In addition to the illness itself, families and children with H-ABC are affected by coronavirus panic.

With the growing spread of COVID-19 and the isolation measures that have been put in place, many people are being driven by fear. Unfortunately, this can have a negative impact on those with H-ABC.

For example…

• As shelves are stripped of medical supplies, health-care professionals who treat children with H-ABC are unable to get the gloves, masks, and other protective gear they need to ensure their patients’ safety.

• The panic buying and hoarding of OTC medicine as a preventive measure means children with H-ABC are left even more vulnerable. 

• As stores continue to be cleaned out, families that can’t get the household staples they need during their regularly scheduled shopping trips are forced to scramble or break isolation protocols.

• The spike in hospital visits by those concerned about COVID-19 leaves children with H-ABC who need emergency care at an increased risk of infection.

Keep in mind that it’s not just the disease that presents a threat to children with H-ABC. It’s our reaction to it as well. 

What You Can Do to Help Families and Children at High Risk

The good news is we can work together to decrease the chances of families and children with H-ABC being seriously affected by the coronavirus.

If you want to do your part, consider the following tips—most of which you’re likely doing already. And make sure your family members do the same!

1) Stock up on what you need, but avoid panic buying.

Although it’s wise to prepare for lengthy periods of isolation, you should resist the urge to panic buy. When you purchase more than you need, it leaves less for others. Additionally, purchasing key supplies such as medical gloves and face masks makes it difficult for health-care professionals to keep their patients safe.  

Don’t forget that vulnerable groups such as children with H-ABC are affected by the coronavirus panic as well.

2) If you’re sick, stay at home.

Even if you don’t have a confirmed case of COVID-19, this is a good rule of thumb. Staying home when you’re sick prevents the spread of germs and ensures that you don’t pass on your illness to others. 

3) Wash your hands regularly.

Don’t underestimate the importance of keeping your hands clean! The CDC recommends washing your hands regularly with soap and water for at least 20 seconds.

When soap and water aren’t available, you should use an alcohol-based hand sanitizer that contains at least 60% alcohol.

4) Keep your distance from others.

If you and your loved ones are self-isolating, you’re already doing your part to flatten the curve. However, when you do need to leave your home, make sure to keep your distance from others. Avoid close contact with those who are sick, and try to remain at least six feet away from other people whenever possible. 

5) Practice good respiratory hygiene.

This is another rule you should follow at all times. Use a tissue to cover your mouth and nose whenever you need to cough or sneeze and dispose of it in the trash. Be sure to wash your hands immediately after as well.

If you don’t have a tissue available, use the inside of your elbow.

6) If you’re worried you may have coronavirus, call ahead before visiting your doctor. 

Whether you have a scheduled appointment or need urgent care, it’s best to call ahead and share your concerns. This will help those in the office protect themselves and other patients from being affected by coronavirus.

7) Remember that children with H-ABC must interact with others. 

Even if you don’t come into direct contact with children who have H-ABC, it’s important to remember that they must interact with others. These children not only have families that care for them but also medical professionals who regularly treat them.

By taking steps to protect yourself and others, you can avoid infecting parents, siblings, nurses, and therapists who could otherwise bring the virus into the home. 

Takeaway

With the current health crisis, it’s crucial that we all remain safe and responsible. By taking extra precautions, you can help prevent the spread of COVID-19 and keep your loved ones healthy.

Moreover, you can play a major role in ensuring that families and children with H-ABC aren’t seriously affected by the coronavirus.

What Is the Importance of Clinical Research?

Many people are unaware of the importance of clinical research, and it’s understandable.

Unless you have a medical background or know of someone who has participated in this kind of research, then chances are you don’t know much about the subject.

However, if you’re interested in getting involved in the fight against H-ABC, it’s worth learning a little bit about clinical research. In doing so, you can discover why there’s a push to spread awareness, raise funds, and support research efforts.

Moreover, it will provide you with valuable insights you can share with others for an even greater impact!

Let’s dive in…

What Is Clinical Research?

Put simply, clinical research is the study of health and illness in individuals. By conducting this type of research, those in the field of health-care science can develop a deeper understanding of various diseases.

Typically, clinical research entails a thorough examination of people, data, and/or tissue samples. This allows those involved to find new methods of…

• Detection

• Diagnosis

• Treatment

• Prevention

Ultimately, the goal is to increase medical knowledge and improve patient care.

Due to the importance of clinical research, doctors and scientists must perform a systematic investigation when collecting information. There are specific protocols that must be followed, such as obtaining regulatory approvals and taking steps to ensure legal and ethical compliance.  

The Different Types of Clinical Research

According to the U.S. Food & Drug Administration, there are different types of clinical research that can be conducted. Depending on what a team of researchers is studying, the type selected will vary.

Here are some examples…

Treatment Research

As the name suggests, treatment research is all about investigating possible treatment options for diseases. When research teams perform this type of research, they examine new methods of intervention such as medications, devices, or therapies.

Prevention Research

With prevention research, the goal is to find better ways to prevent conditions from either reoccurring or developing in the first place. In such cases, research teams identify risk factors and explore potential methods of prevention. These methods may include vaccines, lifestyle changes, or medicines, to name a few.        

Diagnostic Research

Diagnostic research is the practice of searching for effective ways to identify specific disorders. When teams perform this type of research, they seek to create prediction rules that doctors can later use to determine whether a patient has a disorder.

Screening Research

With screening research, the primary aim is to improve detection of diseases for more accurate results. Teams that conduct this type of research investigate new methods of detecting the presence of diseases in patients.

Quality of Life Research

This type of research focuses on exploring various means of improving comfort and quality of life for those suffering from chronic illnesses. When conducting quality of life research, teams strive to find ways for patients to manage their conditions better.

Genetic Studies

With genetic studies, the aim is to improve disease prediction by looking at the relationship between genes and diseases. Teams that perform this type of research examine how a person’s genetic makeup may increase their chances of developing a particular disorder.   

Epidemiological Studies

In epidemiological studies, the goal is to identify the patterns, causes, and control of diseases in groups of people. When performing this type of research, teams look at a specific population of people to determine what risk factors and protective factors are associated with a given disease.  

How Clinical Research Affects Disease Sufferers

The importance of clinical research lies in its impact on individuals suffering from diseases.

As mentioned previously, clinical research allows doctors and scientists to develop a better understanding of diseases. Armed with this knowledge, they can then identify new and more effective methods of detection, diagnosis, treatment, and prevention—all of which benefit disease sufferers. 

The simple fact is that clinical research makes lives better. It changes how the medical community approaches a disease, ensuring that patients receive the best care possible.

Some of the discoveries made through clinical research include the following:

• Vaccines

• Treatments for cancer, diabetes, heart disease, etc.

• MRIs, CT scans, X-rays, and other diagnostic tests

• Improved medical procedures

Without clinical research, we wouldn’t have any of these tools. Moreover, a lack of research would make it impossible for medical science to advance any further, leaving us all vulnerable to potential health issues down the road.

Understanding the Importance of Clinical Research for H-ABC

When it comes to H-ABC, the importance of clinical research is especially significant. 

Why?

Because as of now, there is no cure for H-ABC.

Although treatments are available to help combat some of the symptoms, they grow less effective over time. Without a better way to fight this disease, it will continue to progress in the children who suffer from it.   

However, clinical research can put a stop to this progression by identifying a cure. Our team has already made impressive headway, having completed cellular-level research of the disease and examination of its biological makeup. They’re currently looking at gene therapy to treat H-ABC, as it has shown promise in curing many cellular-level diseases.

At this stage, the need for and importance of clinical research is high. Only by continuing their work can doctors and scientists determine the best approach for gene therapy and move on to the clinical trial phase. 

Takeaway

Now that you have a better understanding of the importance of clinical research, you can see why it’s so crucial for H-ABC in particular.

Without the work of doctors and scientists, a cure for H-ABC may never be found. As a result, the children suffering from this debilitating disease will continue to lose body functions until it’s too late...

But there is hope.

In spreading awareness, raising funds, and supporting research efforts, we can assist in moving the research forward and giving children with H-ABC a fighting chance.

Additionally, we may even be able to help individuals suffering from other health conditions in the future. Research into one area has often led to breakthroughs in another, which means the work our team is doing could potentially result in treatments for other diseases!

If you’re interested in getting involved, click HERE to find out how you can take action today.

Foundation to Fight H-ABC Partners with Angels4America

We’re pleased to announce that we recently partnered with Angels4America, an organization that offers college scholarship opportunities to students and valuable information to parents.

What Is Angels4America?

Angels4America is a national scholarship program launched by one of our supporters in Florida. It was inspired by the volunteer work of students involved with the Angel Foundation. Through this program, students throughout the country are invited to participate in character development and community service activities (referred to as Angel Acts) in exchange for college scholarship opportunities.

The mission of this amazing organization is to “make it easier to make a difference” for students across the country.

How?

• First, by providing parents and guardians with valuable content designed to help them and their children on the path to and through post-secondary education.

• Second, by allowing children in elementary thru high school to earn money for their education while working to improve their communities.

Why Is Angels4America a Great Choice for Those Interested in College Scholarship Opportunities?

This organization stands apart from others in that its focus is on making a difference in the lives of students, their families, and the communities where they live.

Although college scholarship opportunities are offered regularly, they are based on merit rather than need. Only those who have demonstrated a commitment to character building and community service are eligible to receive money for school.

Further, Angels4America doesn’t just award scholarships to students; the organization also provides parents and guardians with information they can use to help their children build better futures.

Those who join the Angels4America program receive a monthly electronic newsletter filled with valuable content about…

• Choosing a career

• Making smart post-secondary decisions

• Finding financial aid

• And more

How Will This Partnership Help in the Fight against H-ABC?

There are three distinct components of the Angels4America program—one of which is youth-focused nonprofit fundraising.

Angels4America doesn't use a sales team to build parent awareness of the program. Instead, the staff works with youth-focused nonprofits across the country to invite parents to become Angels4America members. In doing so, the organization is able to direct a portion of membership fees to the nonprofits that refer new members.

As the Foundation to Fight H-ABC has partnered with Angels4America, we’re now able to provide parents and guardians with the chance to join the program for a reduced price and help give children with H-ABC a fighting chance.

By using the discount code H-ABC when joining the Angels4America program, parents will receive $20 off the lifetime membership rate (usually $40). Additionally, the program will donate $5 of that membership fee to the Foundation to Fight H-ABC.

No act of kindness is too small in supporting our cause. The proceeds from this partnership will bring us one step closer to finding a cure that children with H-ABC so desperately need.

To learn more about Angels4America, visit their website at www.angels4america.com. If you’re interested in joining, don’t forget to use the code H-ABC to receive $20 off your membership fee and ensure that part of the proceeds will go to our foundation!