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ASK DR. KEVIN: The Value of Caregiver Support While Navigating An ATTR-CM Journey

By Dr. Kevin Williams, Chief Medical Officer for Rare Disease at Pfizer

The “Ask Dr. Kevin” series caused by a mutation in a person’s is brought to you by Pfizer genes. Most wild-type patients are Rare Disease in collabora- White. Hereditary ATTR-CM is intion with the National Newspaper Publishers Association (NNPA) to increase understanding of hereditary transthyretin amyloid cardiomyopathy (ATTR-CM), and the risk it poses to African Americans.

Being diagnosed with a rare disease can be overwhelming, and it can be just as difficult if a loved one receives a diagnosis. In the case of ATTR-CM, a life-threatening, underdiagnosed disease that’s associated with heart failure, it’s important to take it one day at a time. [1],[2],[3] Learning more about the condition, how to manage it and where to find support are some of the best methods to navigate an ATTR-CM diagnosis.

There are two sub-types of ATTR-CM, wild-type and hereditary. Wild-type ATTR-CM is thought to be the most common form of ATTR-CM, is mostly associated with men over the age of 60 and is not (Statepoint) (PKD), causes numerous cysts to grow in the kidneys and for those affected by this condition, nearly 50% will experience End Stage Renal Disease (ESRD) by age 60. According to the National Kidney Foundation, autosomal dominant polycystic kidney disease (ADPKD) accounts for as many as 90% of all polycystic kidney disease cases.

Dr. Charlotte Jones-Burton of Otsuka Pharmaceutical Development & Commercialization, Inc. offers the following insights into the condition:

The most common inherited kidney disorder

ADPKD, the most common form of PKD, is a genetic kidney disease that leads to cyst formation and kidney herited from a relative and is a genetic mutation, affecting both men and women. In the United States, the most common genetic mutation associated with hereditary ATTR-CM, V122I, is found almost exclusively in people of African descent with a prevalence of roughly 3 percent, although people who have the mutation may never develop symptoms of the disease. Symptom onset can occur in people as early as their 50s or 60s.1,[4],[5]

While every ATTR-CM patient journey is unique, it helps to have a support system in place while navigating life with the disease. Having a caregiver to lean on for assistance can provide much needed peace of mind.

The Role of a Caregiver

A caregiver may play a critical role throughout every stage of the ATTR-CM journey – from helping to identify symptoms early on to diaggrowth. Additionally, ADPKD is the most common inherited renal disease/ kidney disorder and according to recent data, affects as many as 140,000 Americans. Overall, ADPKD is the fourth leading cause of ESRD. ADPKD is a progressive condition and may eventually lead to kidney failure requiring some form of renal replacement therapy, either dialysis or kidney transplant. While ADPKD is considered a rare disease and is relatively unknown to most people, it’s unfortunately all too common in families impacted by the condition. Children of parents with ADPKD have a 50% chance of inheriting the disease. This is a sobering statistic, however, a critical first step for people with a family history of chronic kidney disease or ADPKD is to discuss the condition with relatives and a kidney care specialist as early as possible. However, not all cases nosis to daily management following a confirmed diagnosis. Whether it’s a spouse, partner, child, grandchild or trusted friend, an advocate who can provide physical and emotional support can be a significant benefit to a patient facing life with ATTR-CM.

In the case of hereditary ATTR-CM patients, most are assessed generally by a primary care physician (PCP) before being referred to a cardiologist for assessing unresolved specific symptoms related to the disease. For some, this can take a longer period of time and delay diagnosis. A caretaker or family member who is available to advocate on behalf of the patient and ask their PCP more questions about what they are experiencing may help speed up a referral.

When Randy, who is living with the hereditary form of ATTR-CM, was first diagnosed, his wife Priscilla was surprised because he had always been very healthy and active. She had many questions about how the condition might affect him and their life together, but it was Randy who opened of ADPKD are inherited, in approximately 5%‒10% of patients with ADPKD, no family history can be documented, suggesting spontaneous mutations.

How ADPKD is diagnosed

Typically, ADPKD is diagnosed by ultrasound, however, a computerized tomography (CT) scan or magnetic resonance imaging (MRI) may also be conducted. Genetic testing may also be used for people with inconclusive imaging results, those with no family history of the condition, those who want to determine if they can pass the gene on to their children, and for diagnosis of possible kidney donors.

Using the latest technologies, physicians can now identify ADPKD patients at risk for rapid progression of kidney function decline as well as estimate how quickly someone with ADPKD is likely to progress based on up to Priscilla to talk about how he was feeling and the help he needed to manage his hereditary ATTR-CM. “My wife is my only caregiver. With my disease, I am not able to do much around the house, so I rely on her. She insists that I take medication on time, she keeps me on a routine.”

Caregiving is Not a “One-SizeFits-All” Approach

Caregivers play an important part in helping navigate the “new normal” of ATTR-CM, and their responsibilities can vary based on the unique needs of the person who is living with the condition. While some caregivers play a more supportive role, checking in and listening when a patient wants to talk about how they are feeling, others need to take a more hands-on approach and can help with maintaining medical records, managing treatment and accompanying the patient to doctor visits.

Many patients find bringing a caregiver to their doctor appointments is very helpful, as he or she can contribute during the visit by discussing symptoms, asking ques-

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the size of his or her kidneys. Although disease progression can be highly variable, even among family members, it’s important to confirm diagnosis early on, as patients with rapidly progressing ADPKD reach ESRD at a younger age.

Management strategies

Since ADPKD worsens with time, early diagnosis and treatment is tions, taking notes and communicating worries that the patient may have previously expressed to them.

Communicating with a Caregiver

A caregiver can help only as much as the patient will let them, which is why it’s essential to have an open and honest dialogue about how ATTR-CM symptoms affect daily activities and one’s physical and emotional well-being. By helping a caregiver understand what they’re going through, the patient can empower the caregiver to provide them with the best possible care.

This also includes communicating personal boundaries. Caregivers need to know when a patient needs help with certain activities and when they would prefer to be and have the ability to be more independent. Simcritical. While signs and symptoms of ADPKD often develop between the ages of 30 and 40, individuals with a history of kidney diseases – especially if they know ADPKD is in their family – shouldn’t delay speaking with a kidney specialist, also known as a nephrologist. By acting early, they’ll be able to take steps to help protect kidney ilarly, caregivers must carve out time to recharge and practice self-care, even when others may be depending on them. In both cases, communication is key to ensuring that the patient-caregiver relationship is one built on mutual trust and support.

If you’d like to learn more about hereditary ATTR-CM, including common signs and symptoms, visit www.YourHeartsMessage.com. *Dr. Kevin Williams is the chief medical officer for Rare Disease at Pfizer. He pursued medicine after being inspired by his father’s work as a general practitioner in his hometown of Baton Rouge, Louisiana. Dr. Kevin is passionate about raising awareness and increasing understanding of ATTR-CM in the African American community. You can fol-

Polycystic Kidney Disease: Is It Hiding in Your Genes?

Polycystic Kidney Disease

PHOTO SOURCE: (c) monkeybusinessimages / iStock

low Pfizer on Facebook and Twitter. function and properly manage the disease, as well as help avoid related complications such as high blood pressure, urinary tract infections, kidney stones, infected or bleeding cysts, abdominal bloating/discomfort and chronic pain.

Educational resources, such as www. PKDInfo.com, can help people have an informed conversation with a doctor about ADPKD. The website provides the latest information for understanding the disease and learning more about developing an effective management strategy, such as maintaining a healthy diet, staying physically active, getting enough sleep and aiming for a healthy weight to help keep kidneys healthy.

Concerned about ADPKD? Use trusted resources to get the facts or schedule an appointment with your doctor to learn more about your risk factors and management strategies.