Fabry disease

Some people may feel concerned about maintaining the privacy of their genetic information. Medical doctors aren't allowed to tell anyone that an individual has had a genetic test or its results without consent; however, health insurance companies can request your medical records after permission is given. Individuals with privacy concerns about their genetic information should discuss these with their genetic counselor or Fabry doctor.

Some people living with classic Fabry disease have life impacting symptoms, do not work, and are on disability. Usually people who qualify have severe pain that is not responding to therapy, severe heart disease, severe kidney disease, severe lung problems, strokes impacting their thought processes, or are not able to walk or stand. If someone living with Fabry disease feels that they are unable to work, there are guidelines to help them apply for disability. First time claims are frequently declined, but working with a disability lawyer on appeal may reverse that decision.

For more information about disability benefits, please refer to the Social Security Administration website. The Fabry support groups: Fabry Support and Information Group and National Fabry Disease Foundation also may have suggestions and tips for how best to apply for disability due to Fabry related complications.

When an individual has Fabry disease, one of the most important things to learn about is how to get Fabry disease expert care in the new location. The easiest way to figure this out is to talk with their current Fabry expert and/or contact one of the Fabry support groups. Depending on an individual's specific needs and symptoms, it may be crucial to figure out if there are good heart or kidney doctors in that new place that are comfortable working with patients with Fabry disease. Individuals on enzyme replacement therapy (ERT) will need to figure out if they can do home therapy or therapy in a clinic/hospital in the new location. It may be nice to reach out to other patients with Fabry in the new area to figure out how things would be different from their current care. A diagnosis of Fabry disease should not prevent a person from moving to a new place, but it does mean there is some research to find out ways to get the best care.

A list of treatment centers can be found online at The National Fabry Disease Foundation Fabry specialist finder website.

Everybody has times when they feel sad or low. However, the "blues" can be more severe in some individuals and last longer than usual. This is called depression. Depression is an illness that involves the body, mood, and thoughts. It affects the way a person eats and sleeps, the way one feels about oneself, and the way one thinks about things. Depression is not a sign of personal weakness or a condition that can be willed or wished away. People with a depressive illness cannot merely "pull themselves together" and get better. Depression often interferes with normal functioning and causes pain and suffering not only to those who have a disorder, but also to those who care about them. Signs that suggest depression include:

• Persistent sad, anxious, or "empty" mood
• Feelings of hopelessness, pessimism
• Feelings of guilt, worthlessness, helplessness
• Loss of interest or pleasure in hobbies and activities that were once enjoyed, including sex
• Decreased energy, fatigue, being "slowed down"
• Difficulty concentrating, remembering, making decisions
• Insomnia, early-morning awakening, or oversleeping
• Appetite and/or weight loss or overeating and weight gain
• Thoughts of death or suicide; suicide attempts
• Restlessness, irritability, and anger
• Persistent physical symptoms that do not respond to treatment, such as headaches, digestive disorders, and chronic pain

Not everyone who is depressed experiences every symptom listed above. Some people experience a few symptoms, some experience many. Severity of symptoms varies with individuals and also varies over time. Men affected by depression may appear to be irritable, angry, and discouraged rather than sad. A depressed child may pretend to be ill, refuse to go to school, get into trouble at school, cling to a parent, or worry that the parent may die.

Many individuals with Fabry disease are affected by depression. Studies have shown that treatment with enzyme replacement therapy (ERT) does improve emotional as well as physical health; however, additional therapy and medications are usually still required to treat Fabry related depression, anxiety, and panic attacks.

Many people feel anxious before exams, presentations, or first dates. Individuals affected by anxiety disorders have constant, unremitting worry and fears about everyday activities. Signs and symptoms of an anxiety disorder include:

• Trembling or feeling shaky
• Muscle tension, aches or pains
• Restlessness
• Shortness of breath or feeling smothered
• Increased heart rate
• Sweating or cold/clammy hands
• Dry mouth
• Lightheadedness
• Hot flashes or chills
• "Lump in throat" sensation
• Nausea, diarrhea or abdominal distress
• Feeling keyed up or unable to relax
• Easily startled
• Poor concentration
• Trouble falling asleep or staying asleep
• Irritability

Anxiety disorders also often involve anticipating the worst, even though there is little reason to expect things to go badly. Individuals with Fabry disease are often affected by anxiety. Studies have shown that treatment with enzyme replacement therapy (ERT) does improve emotional ,as well as, physical health; however, additional therapy and medications are usually still required to treat Fabry related depression, anxiety, and panic attacks.

Panic attacks are repeated episodes of intense fear that strike often and without warning. Symptoms of panic attacks include any of the anxiety symptoms listed above, as well as the following:

• Fear of dying
• Fear of going crazy
• Chest pains
• Feeling like you are not yourself or that things are not really happening to you
• Numbness/tingling sensations
• Feeling like you are choking

Panic attacks can occur at any time, even during sleep. An attack generally peaks within 10 minutes, but some symptoms may last much longer. You may genuinely believe you're having a heart attack or losing your mind, or on the verge of death. Panic attacks can be part of Fabry disease and should be addressed. Studies have shown that treatment with enzyme replacement therapy (ERT) does improve emotional as well as physical health; however, additional therapy and medications are usually still required to treat Fabry related depression, anxiety, and panic attacks.

Teachers, particularly physical education teachers and coaches, should understand the symptoms of Fabry disease and how a child is functioning physically. A child's teachers should be informed about any medications and the special needs of Fabry patients, such as the necessity to avoid over-heating during times like recess or physical education. Make sure that the school has updated medical files and explain expectations if a child gets ill at school. It is important to emphasize that the children with Fabry disease do not have an increased risk for learning disabilities and that Fabry disease cannot "infect" other children.

For more information about how to talk to your child's teacher or school about Fabry disease, please refer to the Fabry Support and Information Group or the National Disease Foundation. For further resources and books that can help explain Fabry disease to classmates and teachers, please visit the Emory Fabry Center's resources webpage.

Pediatricians and Fabry doctors should work together as a team to treat children living with Fabry disease. When working with a new pediatrician, parents should take the time to explain the disease as much as possible and encourage him or her to speak to a genetic specialist with any questions. They should understand the possible complications of Fabry disease, so they can monitor for complications during their regular examinations or any sick visits. There are several useful medical articles that Fabry specialists can provide pediatricians about the symptoms and treatment of Fabry disease in children such as this guideline to taking care of children with Fabry

Fabry specialists can provide pediatricians with information about the symptoms and treatment of Fabry disease in children. The following article is a comprehensive guide for the management and treatment of children with Fabry disease: The management and treatment of children with Fabry disease: A United States-based perspective.

When you feel that your child is old enough and mature enough to understand the basics of the disease, you should set aside a time and a place for discussion. Be open to any questions that your child has and be honest about the answers. Ask them to tell you about Fabry Disease to make sure they understand and are involved in the conversation. You do not have to tell them everything in one discussion, since you can always add in more complicated details as your child ages. There are several children's books about Fabry disease such as "Joe Learns About Fabry disease", "Dani Goes to Fabry Camp", "The Mystery of the Smashed Statue", and "The Long Road to Fabry" which are available on Amazon and may help your child understand Fabry disease better.

Smoking increases the risk for kidney failure, strokes, heart attacks, lung cancer, and respiratory illness. Since individuals with Fabry disease are already at increased risk for stroke, heart attack, kidney failure, and lung problems, it is recommended to stop smoking. Individuals with Fabry disease can talk to their doctor about safe strategies for quitting smoking.

Individuals living with Fabry disease with normally functioning kidneys do not typically need to change their diet. People with reduced kidney function need to be aware that some parts of a normal diet may speed their kidney failure. Dietitians often work with kidney doctors to help patients with kidney disease limit the amount of protein, cholesterol, potassium, and/or sodium they eat so that the kidneys have less work to do. Some people with Fabry and normal kidney function find that eating small meals. taking probiotics, and avoiding spicy, lactose-containing, or greasy foods also help decrease GI issues.

It can be very difficult for friends and family to understand the severe fatigue individuals with Fabry disease fight on a daily basis. A good way to explain the severe fatigue associated with Fabry disease is to say it feels like having the flu every day. It's not just exhaustion, people with Fabry disease are sick and have to fight even to have the energy to stand up. It may also be helpful to explain that people living with Fabry disease have good days with higher energy levels and bad days where they are unable to leave the couch without a fight. Some people living with Fabry disease describe this as a roller coaster with fast ups and downs.

There are no formal studies that give us much information about the relationship between nuchal translucency in pregnancy and Fabry disease. A nuchal translucency (NT) is a fluid-filled area at the back of a baby's neck seen on ultrasound between 11-14 weeks of pregnancy. A NT is great indicator of the health of the baby and pregnancy. A large or enlarged NT can be a sign that the baby has a heart problem, a separate genetic condition, or a chromosome abnormality caused by having missing or extra chromosomes, such as Down syndrome or Turner syndrome. Some babies with a large NTs early in pregnancy are completely fine at birth with no health problems. Prenatal genetic counselors are available to talk to patients about the risks associated with a large NT and help them make decisions about testing. At this point, doctors believe a large NT in pregnancy is unlikely to be related to Fabry disease.

The teenage years are a time when teens often begin separating their thoughts, goals, and self-image from those of their parents. They begin exploring who they are and who they want to become as they enter adulthood. For people living with a chronic disease, like Fabry disease, the teen years should also include a gradual transfer of medical care responsibility from parents to the teens themselves. It's a lot easier to learn to do this slowly and with a plan, rather than jumping headfirst into a fast and confusing crash course of medical needs on their 18th birthday. There are programs and exercises designed to help teens figure out how much they already are managing their own healthcare and how to uncover what they still need to learn and master to successfully manage their own healthcare.

The following book can be obtained from Amazon.com and is a great resource for teens at a time of transition when they have to manage their own healthcare. Written by a genetic counselor and a clinical pharmacist, this great resource is in a workbook format and contains lots of tips for a successful transition. Transitions- What Every Teen Living with a LSD Needs to Know

There are many, many family specific mutations in GLA that cause Fabry disease. If a male has a "classic" gene mutation, then doctors have a better idea which organs will be affected and a general time frame of problems such as kidney disease. If a woman has a "classic" gene mutation in GLA, then it gets more complicated. In this case we know that at least 75% of women will have issues in their heart, kidneys, brain, digestive tract, eyes and/or nerves, but it is not a guarantee. Additionally, if an individual with Fabry disease is on Fabry specific therapy such as Fabrazyme or Galafold, then they will change the course of the disease (hopefully for the better).

In most people (male and female) with "nonclassic" or "later-onset" mutations in the GLA gene, Fabry specialists don't really know which organs will be affected and when. Doctors will research the gene change and work with each person as an individual and watch for the usual organs for complications and review family history to provide the best care and predictions possible.

It gets complicated, but doctors are trained to perform the tests that watch each organ that could be affected by Fabry and and tailor the treatment to the individual. The National Fabry Disease Foundation has a Fabry specialist finder on their website that can direct individuals with Fabry disease to Fabry specialists who can help predict health issues with specific GLA gene mutations.

There are many resources to help you get the treatment you need for your Fabry disease (even without insurance). The usual process works like this:

1. Reach out to the two Fabry support groups (FSIG and NFDF) to be connected to an experienced Fabry center/doctor in your area.
2. The center/doctor will talk to you about options for getting insurance and treatment through Fabry specific case managers at Sanofi-Genzyme or Amicus Therapeutics (they make the medications) and Patient Services Incorporated (a helpful nonprofit that helps with testing, insurance, travel, etc.)
3. Once you have PSI help and/or insurance they do all the testing you need AND set you up with treatment.
4. Then they monitor you closely and help you with other Fabry related quality of life needs.

Home infusions can be an excellent option for children who have Fabry disease and are receiving enzyme replacement therapy (ERT). Often, home infusions are less disruptive to a family schedule and can allow children to attend a full day of school.

In order to learn if a specific child can have ERT infusions at home, talk with the medical team that manages the child's prescriptions. The medical team will usually consider these four key factors:

1. The child is a stable patient who is not having active infusion-associated reactions (IARs)
2. The child has a safe home environment for infusions.
3. The child has coverage for their home infusions and medications through insurance or a patient-assistance program.
4. There is a nurse available in the area who can provide home infusions for children.

Moving a child to home infusions is not something that patients and family members have to figure out on their own. The drug manufacturer's patient-service program and specialty pharmacies such as Optum Specialty and Infusion Pharmacies can help guide families through the insurance process and address issues as they arise.

The following content is sponsored by Optum Specialty and infusion Pharmacies

Nurses performing enzyme replacement therapy (ERT) home infusions for Fabry disease will follow the same treatment protocols as in a physician's office or infusion clinic. The nurse will monitor vital signs, observe the patient during and after their infusion, and manage any side effects.

Although home infusions follow the same treatment protocols as facility based infusions, they are more personalized because the patient has one-on-one attention from the nurse. In addition, home-nursing visits can be scheduled based on patient and family availability.

If you or your family have questions about any differences between home infusions and infusions in a clinic, you should always feel free to ask your home infusion nurse or your doctor. In addition, some specialty infusion pharmacies, such as Optum Specialty and Infusion Pharmacies, have disease-specific advocacy teams who will walk you through the infusion process step-by-step and answer your questions along the way.

The following content is sponsored by Optum Specialty and Infusion Pharmacies

Home infusion of enzyme replacement therapy (ERT) for Fabry disease follows the same protocols as treatment in a physician's office or infusion clinic - including management of any infusion-associated reactions. If a patient has a reaction during or after their infusion, nurses will follow the infusion-reaction orders that are in place, administer the appropriate medications, call the managing doctor, and monitor vital signs until the reaction resolves. If a reaction worsens or is not resolving, the nurse will usually call 911 and ensure the patient gets emergency treatment.

If patients or families have questions about handling potential infusion reactions at home, they should always feel free to ask the home infusion nurse or doctor. In addition, some infusion pharmacies, such as Optum Specialty and Infusion Pharmacies, have clinical teams who can walk patients and family members through the step-by-step, infusion-associated reaction management process and answer questions along the way.

The following content is sponsored by Optum Specialty and Infusion Pharmacies

For people who have Fabry disease, home infusions of enzyme replacement therapy (ERT) can be a safe and practical way to reduce the burden of treatment. The advantages of home infusion may include:

• Reduction of work and school absences with flexible scheduling
• Personalized care with more one-on-one nurse time
• Increased ease in staying on an infusion schedule with expanded scheduling time options
• Increased quality of life related to decreased disruption of daily activities
• Decreased therapy delivery costs as home infusions are often less expensive than outpatient hospital infusions

Having said this, home infusion therapy may not be right for everyone. Some people don't want to see infusion supplies in their home and refrigerator - it's a reminder that they have a chronic health condition. Others enjoy the "me time" at the infusion clinic, where they have time to read or catch up with friends they've met there.

Individuals living with Fabry disease who have questions about the differences between home infusions and infusions in a clinic or hospital should always feel free to ask their healthcare provider about the advantages and disadvantages of both options. In addition, some specialty infusion pharmacies, such as Optum Specialty and Infusion Pharmacies, have disease-specific advocacy teams who will walk you through the home infusion process step-by-step and answer your questions along the way.

The following content is sponsored by Optum Specialty and Infusion Pharmacies

Home infusions of enzyme replacement therapy (ERT) can be an excellent option to treat Fabry disease. In fact, many insurance companies allow - and some prefer - home infusion as an alternative to infusions in a hospital outpatient setting.

Once a doctor has decided if home infusions are appropriate for a specific patient, the next step is to see if the insurance plan allows home infusions. The drug manufacturer's patient-service program and a specialty infusion pharmacy - such as Optum Specialty and Infusion Pharmacies - will check with the insurance company to help patients understand their options. Even if the primary insurance is Medicare, patients may be able to have home infusions. Certain Medicare Advantage plans and patient assistance programs work with Medicare Part D to provide full coverage.

Moving to home infusions is not something that patients and families have to figure out on their own. Drug manufacturer's patient-service programs, doctors, and infusion providers such as Optum Specialty and Infusion Pharmacies, can help guide them through the insurance process and address issues as they appear.

When newborn screening for Fabry disease began in Taiwan, the testing found an unexpectedly high number of babies with a late-onset Fabry-causing pathogenic change or variant in the GLA gene called c.640-801GtoA (also known as IVS4+919GtoA and c.639+919GtoA). Further research in the ancestry of these families found that the gene change was originally brought to the island of Taiwan by a group of seafaring Han Chinese pirates led by Chief pirate Wang Zhi in the 16th century. It is believed that this group traveled through several ports and countries and expanded the population of individuals with Fabry disease throughout the region.

Fabry disease (FD) is a progressive condition that causes medical issues throughout the body, including a negative impact on the function of the kidney and heart. Before kidney transplants were used to treat patients with Fabry disease, life expectancy was directly related to how well the kidneys were functioning. Accordingly, individuals may find information suggesting that men with classic Fabry disease have a very reduced life expectancy. When kidney transplants became available, the time to death improved from an average life expectancy to around 58.2 years for men and 75.4 years for women as reported in 2009. However, the availability of enzyme replacement therapy (ERT), access to earlier kidney transplants, improvements in understanding of disease complications, and the increased awareness of heart rhythm abnormalities and the need for aggressive treatment have changed life expectancy in Fabry disease for the better. Preliminary evidence suggests that earlier treatment with ERT greatly reduces the impact of Fabry disease on the body and quality of life on men and women with classic and non-classic Fabry disease. It will take time to understand how treatment will change life expectancy in Fabry disease, but there are men on ERT with classic Fabry disease living past 60 years of age with good quality of life.