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!

5 Ways to Take Action and Help Fight H-ABC

After learning about the children who suffer from H-ABC, chances are you want to do something to help. You want to make a difference in the lives of those affected by this debilitating condition. You want to have a real impact.

Rest assured that no act of kindness is too small in supporting our cause.

Anything you can do to spread awareness of H-ABC or raise funds for disease research brings us one step closer to finding a cure.

Therefore, we wanted to share with you a few ways to take action and help fight H-ABC…

These seemingly minor deeds can go a long way toward giving children with H-ABC a fighting chance, and all they require is your time! 

1) Share Resources with Friends, Family Members, Coworkers, and Others.

One of the biggest obstacles we need to overcome in this fight against H-ABC is a lack of awareness. Since H-ABC is a rare disease (i.e., one with fewer than 200,000 sufferers), many people don’t know about it.

That’s why educating others about H-ABC—even just its existence—is so important. As more and more people discover the impact this disease has on families throughout the world, interest and support are able to grow.

One of the ways to take action today is to share resources with friends, family members, coworkers, and others, making them aware of H-ABC and educating them about this disease.

How?

Here are a few ideas:

• Send a link to our website via email, introducing others to our foundation.  

• Share one of our blogs on social media.

• Distribute our fact sheet to those who are interested in learning about the disease itself.

• Direct people you know to our YouTube channel, so they can see the effects of H-ABC.

Although it may not seem like much, simply informing others about H-ABC is tremendously helpful in supporting the cause.

2) Ask for Donations in Lieu of Gifts.

Requesting donations in lieu of gifts is one of many great ways to take action and help fight H-ABC!

If you have a birthday, wedding, or other special event coming up, consider using it as an opportunity to raise funds for H-ABC research. Let friends and family members know that if they wish to mark the occasion with a gift, you’d love it if they would contribute to a cause you care about instead.

You could also make it easier for them by…

• Including a link to our website or GoFundMe page on invitations

• Creating a fundraiser on Facebook and selecting Foundation to Fight H-ABC as your nonprofit

In addition to raising money for much-needed research into a cure, you’ll also be getting others involved. Plus, there’s no better gift than knowing you helped make a difference in the lives of families affected by H-ABC.

3) Use Our Hashtags on Various Social Media Platforms.

If you’re active on social media, you likely apply hashtags to the photos and posts you upload already. What you may not realize is that using hashtags on Facebook, Twitter, Instagram, and YouTube is just one of the many ways to take action and help fight H-ABC.

You see, applying hashtags is not only a fun activity but also a free, convenient, and effective way to spread awareness. Hashtags have the ability to go viral and often result in a lot of additional content. Further, they allow people from across the globe to unite around a shared cause.

By using our hashtags—#FightHABC and #SaveAChild—on photos, links, and posts, you can help spread awareness and grow our community of supporters!

4) Sign Up to Become a Peer Advocate.

If you’re eager to do more, you may want to think about signing up to become a peer advocate. In this role, you’d volunteer your time and fundraise with us!

One of the ways to take action and help fight H-ABC is to set up your own personal fundraising page and encourage others to donate. If you enjoy physical activity, create a pledge campaign and ask people to sponsor you in an obstacle course, marathon, backpacking excursion, etc. Let them know that their contributions will go toward research and help in giving children with H-ABC a fighting chance!

If you’d rather host an event to raise money for H-ABC research, you could…

• Put together a bake sale

• Do a car wash

• Run a penny drive

• Hold a raffle

• Organize a potluck or dinner

Don’t be afraid to get creative!

5) Give While Doing Your Normal Shopping on Amazon.

Like many people, you may be under the impression that you can only donate to a cause directly. Fortunately, that’s not the case. In fact, you can assist in raising money for H-ABC research by just shopping on Amazon!

AmazonSmile makes it easy for you to support charitable organizations such as the Foundation to Fight H-ABC, and it doesn’t cost anything extra!   

Here’s how it works…

1. Visit smile.amazon.com and log in as you would normally, you same Amazon login will work.

2. Before you begin shopping, you’ll be asked to select a charitable organization. Simply search for Foundation to Fight H-ABC.

3. Browse millions of products that are eligible for AmazonSmile donation. They’ll be marked accordingly.

4. When you buy items that are eligible for AmazonSmile donation, 0.5% of your purchase will be given to the Foundation to Fight H-ABC.

That’s it!

If you’re a frequent Amazon shopper, opting to go through the AmazonSmile site is an effortless way to raise money for our cause. And every bit helps!

Takeaway

It’s a message that bears repeating: No act of kindness is too small in supporting our cause.

If you feel for those affected by H-ABC and want to make a difference in their lives, there are plenty of ways to take action today!

Help spread awareness by sharing resources with others or using our hashtags (#FightHABC and #SaveAChild) on social media. Assist in raising funds by asking for donations in lieu of gifts, becoming a peer advocate, or shopping on AmazonSmile.

However you choose to help, just know your efforts are appreciated! 

Foundation to Fight H-ABC Joins the National Organization for Rare Disorders

We have exciting news! This past January, the Foundation to Fight H-ABC joined the National Organization for Rare Disorders as a Platinum NORD member organization.

What Is the National Organization for Rare Disorders?

The National Organization for Rare Disorders (commonly referred to as NORD) is a nonprofit patient advocacy organization dedicated to those with rare diseases and the organizations that serve them. 

For more than 30 years, the organization has worked to raise awareness of various rare diseases, drive supportive policies, advance medical research, and provide resources to those who need them. 

NORD’s ultimate goal is to improve the lives of individuals and families affected by rare diseases. In addition to offering educational materials, patient assistance, research support, and advocacy, NORD provides mentorship for disease-specific patient organizations, such as the Foundation to Fight H-ABC.

What Are the Criteria for Becoming a Platinum NORD Member Organization?

To become a Platinum NORD member organization, a disease-specific patient organization must have the following:

• A mission and programs that align with NORD’s goal of being patient-centered

• Proof of tax-exempt status

• Dated bylaws showing mission and programs align with NORD’s goal of being patient-centered

• Bylaws detailing the process for board member elections, term limits, etc.

• Programs that engage patients, caregivers, families, medical professionals, and supporters

• An up-to-date website reflecting the mission and patient voices

• At least 5 board members that meet at least twice annually

• At least 3 medical and/or scientific advisors, as well as a policy and procedures for expectations and management of the advisory board

• Thoroughly reviewed and accurate medical information

• A conflict-of-interest policy for board members and staff

• A board-approved annual operating budget

• A privacy policy that protects patients’ and family members’ identities

• A full disclosure of how donations are used

After the Foundation to Fight H-ABC was found to meet the above criteria, our organization was accepted as a Platinum NORD member organization.

What Does This Mean for the Foundation to Fight H-ABC?

As a Platinum NORD member organization, we’ll be able to receive guidance and support to grow our organization and spread awareness of H-ABC.

With this new partnership, we’ll have the chance to network with peers, collaborate with NORD to advocate on behalf of those affected by H-ABC, receive access to breaking news related to the rare disease community, gain insight into the policy process, and promote our cause to NORD’s extensive network.

In short, joining NORD will help further our efforts in giving children with H-ABC a fighting chance.

Additionally, being a Platinum NORD member organization allows us to support Rare Disease Day (February 29) in an official capacity. To learn more about this event, click HERE .

The Foundation to Fight H-ABC is grateful to be a part of this organization, and we’re looking forward to the opportunities the partnership will provide. For additional information about the National Organization for Rare Disorders, please visit their website at www.rarediseases.org.

Rare Disease Day 2020: Raise Awareness & Improve Access to Treatment for Individuals with Rare Diseases

Rare Disease Day 2020 will take place on February 29th of this year, putting a spotlight on H-ABC and other conditions like it.  

For individuals in the rare disease community, this annual event is one of the most important days of the year. However, those of us at the Foundation to Fight H-ABC understand that it’s not on everyone’s calendar. 

That’s why we wanted to take this opportunity to explain what Rare Disease Day 2020 is about and how you can get involved!

What Is Rare Disease Day?

Rare Disease Day is an annual event dedicated to the following:

• Raising awareness about rare diseases and those affected by them

• Improving access to treatment for individuals with rare diseases

• Advocating for medical representation for those with rare diseases

The event takes place on the last day of February. Rare Disease Day 2020 is scheduled for February 29.

The National Organization for Rare Disorders (NORD) is the official sponsor of the U.S. event. NORD’s sister organization, the European Organization for Rare Disorders (EURODIS), is also a sponsor and organizes the international campaign.   

Although individuals and organizations in the rare disease community seek to educate, inspire, and involve others every day of the year, Rare Disease Day is a time when we join forces.

By coming together, the voices of those affected by rare diseases ring louder!    

How Did It Start?

Rare Disease Day was first observed in Europe on February 29, 2008—a “rare” date that happens once every four years. EURODIS and its Council of National Alliances then established it as an official event. A year later, EURODIS asked its sister organization, NORD, to sponsor the event here in the United States.

As of 2019, more than 100 countries across the globe have started to participate. Rare Disease Day 2020 is expected to be bigger than ever!

Why Is It Important?

Rare Disease Day is important because it draws much-needed attention to rare diseases and those affected by them. Here in the United States, any disease with fewer than 200,000 sufferers is considered rare. In Europe, a disease is categorized as rare when it affects fewer than 1 in 2,000 people.

Most people don’t realize how prevalent or troubling such conditions truly are, which is why it’s worth taking a look at some of the facts...   

Fact #1: Rare diseases aren’t so “rare.”

• So far, more than 7,000 rare diseases have been discovered.

• In the United States, rare diseases affect 25-30 million Americans.

• It’s estimated that 350 million people worldwide are affected by rare diseases.

Fact #2: Rare diseases have a particularly large impact on children. 

• More than half of those Americans affected by rare diseases are children.

• Approximately 30% of children with a rare disease don’t live to see their 5th birthday.

• Roughly 70% of rare genetic disorders begin in childhood.

Fact #3: Rare diseases are often difficult to diagnose and treat.  

• On average, patients with rare diseases visit more than seven doctors before receiving an accurate diagnosis.

• Of the rare diseases that have been identified in the U.S., more than 90% don’t have an FDA-approved treatment—including H-ABC.

• Genetic testing helps in identifying many rare diseases, but not all of them.

As each rare disease affects a “small” number of people, pharmaceutical companies don’t see the value in developing drugs and treatments. Moreover, failure to prioritize research into rare diseases has led to many conditions going largely ignored.

This isn’t right, and this is why Rare Disease Day was created.  

At the Foundation to Fight H-ABC, we strongly believe that just because a disease is rare doesn’t mean it deserves less attention or scrutiny—a belief that others in the rare disease community share and one that, hopefully, you agree with too!

How to Make an Impact on Rare Disease Day 2020

If you have a heart to help those affected by rare diseases such as H-ABC, there’s no better time to get involved than now. Here are a few ways you can make an impact on Rare Disease Day 2020…

1) Wear and/or display stripes.

The zebra is the official symbol of rare diseases in the United States, as it represents the uniqueness of all rare diseases and every individual affected. The theme for Rare Disease Day 2020 in America is “Show Your Stripes,” which you can do by…

• Wearing striped attire and encouraging others to do the same

• Encouraging your workplace to do a large-scale stripe project

• Featuring zebra stripes on your website in honor of rare diseases

2) Get the word out on social media.

One of the primary goals of Rare Disease Day is to spread awareness about rare diseases and those affected by them. Using social media to get the word out about H-ABC and other rare conditions is a great way to involve your friends and followers too!

Try…

• Changing your profile photo to include stripes

• Uploading a photo of yourself wearing stripes and adding the hashtags #ShowYourStripes, #rarediseases, #RareDiseaseDay, #FightHABC, and #SaveAChild

• Writing a post about the need for support and adding the hashtags #ShowYourStripes, #rarediseases, #RareDiseaseDay, #FightHABC, and #SaveAChild

• Creating a short video about your desire to help those with H-ABC and adding the hashtags #ShowYourStripes, #rarediseases, #RareDiseaseDay, #FightHABC, and #SaveAChild

3) Share information about rare diseases such as H-ABC.

Educating others about rare diseases such as H-ABC is crucial; otherwise, these conditions go unnoticed. Consider sharing one of our articles on social media, sending a link to our website via email to friends and family members, or distributing our fact sheet to those you know. 

4) Volunteer as a peer advocate.

Simply volunteering your time as an advocate to raise awareness of rare diseases can make a huge difference. The more attention a condition receives, the greater the likelihood of funding research for a cure.

For instance, you can create a personal fundraising page or host an event for H-ABC.

5) Donate any amount you can.

By giving any amount to the Foundation to Fight H-ABC, you can help fuel research efforts and give children with H-ABC a fighting chance!

Additionally, you can donate to NORD and assist them in providing resources to those in the rare disease community.

Takeaway

With Rare Disease Day 2020 right around the corner, now is a great time to show your support for those affected by H-ABC and other rare diseases. 

Remember that just because a disease is rare doesn’t mean it deserves less attention or scrutiny. To donate or volunteer as a peer advocate for the Foundation to Fight H-ABC, click HERE.

CRISPR Research

We are very happy to announce that CRISPR expert at Harvard/MIT, Professor David Liu will be working with the research team at CHOP. Professor Liu’s work is highly prominent in the field having pioneered the use of engineered CRISPR Cas variants with improved specificity and targeting ability. The advantage of this approach is that bringing a truly cutting-edge technology to treat H-ABC.

Yet another hugely successful event for our cause

On May 31st we had our best event to date. See our pictures below and thank you again to all our sponsors, our committee, all those who volunteered and our community for supporting us! We couldn’t do it without you!