Meeting Ashley Appell, you can’t miss her unique brand of spunk. It’s a mix of wanting to hug the world with a determination to make it a better place. Then you meet mom Donna and quickly learn where Ashley gets it from, and how this duo became such empowered advocates for people with Hermansky Pudlak Syndrome.

HPS is a genetic metabolic disorder characterized by albinism, visual impairment, and platelet dysfunction that causes prolonged bleeding. “There are 11 subtypes of HPS” adds Donna, a nurse, as she runs through other problems people with HPS can have, including inflammatory bowel disease, pulmonary fibrosis, and kidney disease.

Ashley has struggled with many of these complications, barely surviving massive blood loss as an infant. It’s common for people with rare diseases to struggle with serious medical issues, compounded by a lack of treatment before they get a proper diagnosis and help. “My Mom had to fight to get me the care I needed,” Ashley says, “She’s really the reason I’m here today.”  

A visit to the HPS Network website testifies to the wide-ranging challenges faced by people with HPS, along with the hard work of the HPS Network to help address these challenges. Having experienced so many of these struggles themselves, Donna and Ashley are intent on doing what they can to help others like them.   

“Ashley was very sick and I felt very, very isolated. So I started the HPS network and then I didn't know how to get research done, so I cold called the NIH and got invited to speak to them.” Donna says. As a result, Ashley became the first, or index case, of HPS studied by NIH. It led to NIH opening a HPS study protocol and inviting other families.

The Appell's work out of their Long Island home on projects that take them from NIH conferences, to the United Nations, and Donna begins the interview by saying “We have a hard stop at 9am to Zoom with the UN about a human rights campaign to protect people with albinism particularly in non-developed countries where they can sometimes suffer horrific abuse.” Donna says.  

A priority for Donna and Ashley is better treatment for HPS. Besides collaborating with NIH, they’re working on med school classes, an international database on albinism, and a clinic for providers and patients in Puerto Rico where they have a high rate of HPS. (Recently they hosted the UN in Puerto Rico, which will be a UN report next month.) No opportunity for progress is overlooked. “We collect specimens for studies at our meetings. At our annual conference the rule is if you’re sharing research information it has to be unpublished, which means it’s new work, so we can keep moving the needle.” Donna explains as she ticks off what they do.

On the state level, Ashley served as part of a NY Dept. of Health work group which released a report in December detailing the needs of people with rare diseases and what NYS can do to help meet those needs. Now that the work group is over, Ashley is part of a campaign to create a permanent NYS rare disease advisory council. 

“We have so much yet to do,” Ashley explains. Donna nods, and together this dynamic duo head off to their Zoom with the UN. 

Learn more about HPS and the HPS network here. 

Rare diseases impact mental health as well

Source: UK NHS National Genomics Program, edited for clarity

Rare genetic conditions are often chronic and medically complex, and can take years to diagnose. It has been well documented that living with a rare genetic condition can negatively impact mental health, and poor mental health has a detrimental effect on physical symptoms.

What is good mental health?

Good mental health is a state of wellbeing that enables patients and their families to cope with the stresses of life, learn and work well, and develop and maintain positive relationships. Good mental health helps people manage the uncertainties that come with living with a rare disease.

What contributes to poor mental health among rare disease patients?

Rare conditions can have a significant impact on mental health due to their effects on daily life. These include:

• chronic pain and fatigue;

• mobility issues;

• changes to physical appearance;

• unpleasant tests and treatments; and

• lack of information and disease awareness.

If symptoms are undiagnosed or misdiagnosed, feelings of frustration and distress are common. Unresolved physical  problems can contribute to depression and anxiety, especially when paired with doubts or dismissal from healthcare professionals. Some patients report being told things like, “It’s all in your head,” which can lead to reduced trust in the healthcare system. 

The impact of rare genetic conditions on family dynamics

Siblings of a child with a rare disease may feel neglected and their own needs overlooked. As more therapies for rare genetic conditions are becoming available, some younger family members may benefit from treatment that their older relatives did not have access to, leading to resentment. 

Guilt is common among families with rare conditions. Parents may blame themselves for passing on a condition while simultaneously grappling with the responsibility of caring for a child with complex medical needs. Likewise, a relative who was at risk of inheriting a condition may feel guilty for not having it when another family member does. Family members may also experience compassion fatigue when caring for their ill relative(s).

Receiving a diagnosis

The emotional impact of a diagnosis can depend on whether it was sought or is unexpected. The days after a diagnosis may involve many tests, which can be invasive, and possible involve family members if a condition is genetic. A lot may be happening, and people can easily feel overwhelmed. It's vital to have support, particularly in trying to comprehend communication with medical professionals. 

Integrating mental health into patient care

The mental health of people with rare disease requires regular assessment and care just as their physical health, and monitoring should be an integral part of their treatment plan. Three key things you can do to integrate mental health into rare disease patient care are: 

• Find a patient advocacy group. These groups may have access to resources and strategies to improve emotional wellbeing. Ask your doctors or search online for such groups. 

• Ask the patient directly: “How are you coping?” Asking someone what they find most difficult about their condition helps to promote patient-centered care, and can make all the difference when someone is on the brink of a possible mental health crisis.

• Address uncertainties. Manage the details of your care as best you can (appointments, etc.), take good notes, and write out questions for doctors ahead of time. Tackle bigger uncertainties too, esp. by asking your doctor questions until you get answers you understand. While it can take time to get answers through testing or exams, knowing what they do will help you understand your treatment and establish trust with the doctor. 

• Finally, reach out if you need help. It can be family, friends, or a professional - anyone you can talk to. Living with a rare disease isn't easy