What You Need to Know About Fabry Disease

Fabry disease is an inherited disorder that causes many different symptoms from mild to severe and life-threatening. The kidneys are one of the major organs affected by Fabry disease. Kidney failure may occur in some people who have Fabry disease.

This Web site gives information about the signs and symptoms of Fabry disease and helps provide education and support to people and families affected by Fabry disease.

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About Fabry Disease

Family, photo by GenzymeFabry disease can be difficult to diagnose because it is rare and has many different symptoms. It is often mistaken for other conditions. The longer someone has Fabry disease, the more damage is likely to occur in the kidneys, heart and other organs. The earlier Fabry disease is diagnosed, the better the chance of preventing other health problems.

Fabry disease is a rare inherited disorder caused by a faulty gene in the body. When one or both parents has this faulty gene, they can pass it along to their child.

Signs and Symptoms of Fabry Disease

Most of the symptoms of Fabry disease are caused by a buildup of the fatty substance called GL-3, which results in damage to various parts of the body. Not everyone with Fabry disease experiences all the symptoms and complications. In addition, symptoms can change as the disease progresses.

children


Children and teenagers with Fabry disease may have one or more of the following symptoms:

A Word to Parents

Father and daughterIf you have Fabry disease, or Fabry disease is present in your family, it is important to look for signs and symptoms of the disease in your child. The earlier the diagnosis, the earlier your doctor can begin managing the symptoms.

Fabry disease can be difficult to recognize. The symptoms can often be confused with other problems. Common childhood signs and symptoms of Fabry disease include:

If your child has one or more of these symptoms and there is Fabry disease in your family, you should speak to your doctor.

adults


As patients get older, the damage to blood vessels can lead to additional problems such as:

How Fabry Disease is Inherited

Fabry disease is an inherited disorder, which means it is passed down from parents to children. Genes are the basic units of inheritance.

Genes contain the information that determines our physical characteristics—from hair color to specific functions like metabolism and growth. Fabry disease happens when there is a faulty gene for an enzyme called alpha-GAL. This enzyme is responsible for breaking down a fatty substance called GL-3. When the alpha-GAL gene is abnormal, the body makes little or no alpha GAL, and GL-3 builds up in body tissues, causing damage.

When a parent has Fabry disease, not all the children will be affected. The abnormal gene is located on the X chromosome (one of the chromosomes that determines the sex of a child). Men with Fabry disease can pass the gene to their daughters but not to their sons. Women have a 50 percent chance with each pregnancy of passing the abnormal gene to either sons or daughters. It is also possible for someone to be born with Fabry disease when neither parent has the abnormal gene. This would happen if the alpha-GAL gene underwent an abnormal change, called a mutation.

Female X-Linked

Male X-Linked

Reprinted with permission
http://www.fabrycommunity.com/healthcare/about/fc_p_hc_fabry-genetics.asp

Fabry disease in men and women

Fabry disease can affect anyone who inherits the imperfect gene—both men and women. Virtually all men who inherit the faulty gene will develop all the symptoms and complications of Fabry disease. Women may have symptoms ranging from mild to very serious, similar to those in men. How mild or severe the symptoms are may depend on the amount of alpha-GAL enzyme made in the body. Women with the faulty gene can have anywhere from near-normal levels of alpha-GAL to no active enzyme. In contrast, men usually have little or no alpha-GAL. As a result, men are more likely to have severe symptoms of the disease.

Diagnosing Fabry Disease

nurse drawing blood sample from patientThe earlier Fabry disease is diagnosed, the earlier treatments can begin to help manage the symptoms and disease-related complications. Diagnosis may be difficult because Fabry disease is rare. Its symptoms are not easily recognized and may be confused with symptoms of other diseases. If you or a family member has one or more of the signs and symptoms (see “Signs and Symptoms of Fabry Disease), speak to your doctor. After examining you, the doctor will decide whether the following tests are needed:

Treating Fabry Disease

Doctor speaking to patientEnzyme replacement therapy - Until recently, the only treatments available helped to relieve symptoms and did not prevent long-term complications, such as heart attacks, strokes and kidney failure. Now, a form of the missing enzyme, alpha-GAL, can be made using recombinant DNA technology. The recombinant form of alpha GAL, called agalsidase beta, is given intravenously. Studies have shown that this treatment reduces deposits of the fatty substance, GL-3, in many types of cells.

Managing symptoms

The following complications of Fabry disease can be managed using the following treatments:

Your Health Care Team

group of health professionalsSince many parts of the body are affected in Fabry disease, patients may require a team approach to get the best care. Patients should take an active role in their care by learning about the disease and possible treatments.

Some of the following healthcare professionals may be part of the team:

Coping with Fabry Disease

support group; group of people talkingFabry disease can be a lot to handle. In this section, you will find some tips to help cope with the disease, as well as some profiles of patients with the disease. Reading their stories will give you encouragement and some helpful ideas about how to live with Fabry disease.

Talk with your family and friends - Tell them about the disease. When family members and friends understand your needs, they can be a valuable source of support for you.

Take an active role in your care - Learn all you can about Fabry disease and its treatment so you will know what is best for you.

Don’t be afraid to ask questions - You will probably need to see a number of different specialists (see Your Health Care Team). Be prepared before you go for your appointment. Write down your questions so you won’t forget them. Take notes as the doctor explains things to you.

Join a support group - You won’t feel alone when you are in touch with others who have the same problem. Sharing coping tips can be helpful to everyone. An active Fabry patient support group can be found at www.fabry.org.

Consult a specialist - Special doctors and treatment centers are available that have expertise in diagnosing and managing patients with Fabry disease. Ask your doctor to help you find one.

Consider talking to a genetic counselor - If you or a family member have been diagnosed with Fabry disease, you may find it helpful to speak with a genetic counselor. They can help you learn more about the disease and assist you with issues such as disease inheritance, family planning, genetic screening, and talking with family members about your diagnosis. For more information, you may want to visit the National Society of Genetic Counselors Web site.

Read Other Patients’ Stories

Profile story for Scott Phillips, 45

Scott Phillips is a comedian, a DJ and shows no fear of being on stage. He’s the loud, in-your-face, everyone-look-at-me type of guy who describes himself as a Billy Idol look-a-like with a sense of humor to match. He’s also a family man with a wife and a grown son, now serving in the military.

Five years ago, Scott was told he would only have a few years to live. He had lost function in both his kidneys and had a heart attack within one year. Five years ago, Scott was also diagnosed with Fabry. Five years ago he thought his life was over.

For once his humor was failing him, but in 2004 he was put on the enzyme treatment. He now keeps up with his physical therapy and does cardio on a daily basis. He is still on a stage, but this time in front of doctors and students to get his story out and raise more awareness and answer questions about Fabry.

Healthy and physically fit, Scott is waiting to be put on the kidney transplant list, but says that if he had to go through life without a transplant, he now knows he has the strength and will to do it. Feeling upbeat and positive, Scott knows he’s lucky to have made it this far.

“I could have never done this without the doctors and nurses who have been with me throughout the treatments over the years,” Scott says. “They are truly my inspiration and hope to carry on and keep doing this day to day.”

Profile story for Karen Hedinger, 49, and Daniel Hedinger, 17

Like any mother Karen Hedinger looks forward to seeing her two children, Nicole and Daniel, grow up, go to college and start a career. Those simple joys seemed to be out of reach only a few years ago, when Karen and Daniel were both diagnosed with Fabry disease.

At age 11, Daniel was already used to long bouts of excruciating pain in his feet, unexplained high fevers and ringing in his ears. Karen herself had suffered from kidney problems and cardiovascular problems all her life. After years of seeing specialists, both Daniel and Karen finally received the enzyme infusion therapy alleviating the pain, and enabling them to live healthier and happier lives.

Despite his physical disabilities from Fabry which prevented him from participating in physical activities, Daniel learned to play the violin and the viola. Showing talent at an early age, Daniel won an award at the New York Viola Society Competition, and has been granted a full scholarship to the Tanglewood Institute, an internationally-renowned program for young people studying music.

“His talent and determination to overcome the pain and handle the extensive hospital visits and treatments give me the inspiration to go on, and also strengthens the knowledge that life is worth living,” Karen said. “I have been blessed with a great family and support system, and hopefully our message of hope will inspire someone else dealing with Fabry disease.”

Karen now looks forward to traveling more with her husband after he retires. Both have tried to raise awareness about the disease by helping other patients cope with their doubts and fears and steering them towards getting the treatment.

Profile story for Daniel Delacruz, 36

Fourteen years ago, Daniel Delacruz’s last thought would have been about going back to school. He was supporting his family by working 14-hour days and sometimes weekends. A routine doctor’s visit changed his life forever.

Daniel was diagnosed with Fabry disease at age 22, but had suffered from high fevers and excruciating physical pain since he was 7 years old. He had dropped out of school, choosing instead to work long and physically strenuous jobs into his twenties.

“When I was told I had Fabry disease, there was very little that could be done for me medically," Daniel says. "That's when I went to my computer and the Internet. I learned that experimental work on Fabry disease was being done.”

After enrolling back in school to get his high school diploma, Daniel continued his education by studying for an associate’s degree, and will complete his bachelor’s degree in Telecommunications. He stresses that education is the most important thing you can get in life. His motivation to continue his education was the uncertainty and lack of knowledge about Fabry and what treatments were out there.

Daniel now receives the enzyme treatments that have dramatically altered his life and his outlook. He now knows that no matter how big the obstacle, if you can find a positive outlet to motivate yourself, a person can overcome anything. This attitude and his desire to be present at his own son’s high school graduation are what drives Daniel to live each day to the fullest.

“If I look at where I came from and where I am now, anyone can do it,” Daniel said. “All you have to do is find a constructive outlet to deal with whatever comes your way.”

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