SOME COMMON QUESTIONS AND PROBLEMS PEOPLE WITH ALPS FACE
Do you have the mumps? No! People with mumps have a very different
condition, even though both involve swelling of the sides of your face. Some people who ask questions are well-meaning, some are curious, and some are just plain rude. You don't have to answer if you don't want to. You can just ignore the question. A simple answer, such as "I was born this way" or "God made me this way" is often enough to satisfy curiosity. People tend to say different things depending on their mood. The important thing is to find an answer that feels comfortable to you.
Why is your face so round? If you are taking steroids, you may gain weight quickly. Some parents talk to teachers about the side effects of steroids in advance, so that the class knows what to expect. Try to remember that the swelling is temporary. It goes away once you stop taking the medicine.
Are you contagious? People often worry that ALPS is catching. It is important that people understand that ALPS is not infectious.
Stares from strangers: It's a fact of life that people will stare at people who look different. Often there are good days when stares don't seem to matter, and bad days when you feel like crawling under the bed. Parents of children with ALPS have to work extra hard to develop their child's self-confidence and sense of security. The important thing is to let them know that you love them no matter how they look. Children and adults with ALPS need to be reminded that they have many positive characteristics.
Spleens and sports: Sometimes doctors recommend that people with enlarged spleens not play contact sports. When the spleen is large, it is fragile and there is a risk of rupture. This can be hard for many to accept. We at the NIH encourage people with large spleens to wear spleen guards. A spleen guard is a piece of fiberglass that is molded to a person's stomach. It is easily wrapped around your stomach and held in place under your shirt. In general, the spleen guard is worn whenever someone is involved in an activity at high risk for stomach injury, such as contact sports. Other people choose different sports, such as swimming, track, or bicycling.
Relatives who do not have ALPS: Brothers and sisters or other relatives who don't have ALPS are still affected by the condition. Some worry that their brother or sister will die. Some think they will develop ALPS because they look or act like their brother or sister. Some children struggle with how much of their parents' time is spent with their sick brother or sister. Relatives who have a Fas mutation but do not have ALPS may feel guilty that they are not sick. It is important for families to talk openly about ALPS so that any misconceptions can be explained and feelings can be expressed. Family counseling is often helpful.
The positive side: Many families say that ALPS has brought them closer together. Family members learn that they can rely on each other for support. Children learn from their parents' open and honest communication, and the experience teaches them how to solve problems.
THE ALPS TEAM AT THE NIH
The team at the NIH is composed of doctors, scientists, nurses, genetic counselors, and several students and scientists in training. Physicians from around the country refer families suspected of having ALPS to us. We study their blood for specific laboratory findings related to ALPS. After reviewing the medical records and lab results, the team invites those who we think have ALPS to NIH for evaluation and follow-up. With the many referrals we have been getting recently, we are beginning to think that ALPS is more common than once thought.
WHAT'S THE PURPOSE OF OUR STUDY AT THE NIH?
We are trying to better understand this rare disease, to find the cause and hopefully to find improved ways to treat ALPS. Of course, the ultimate hope is to find a cure.
WHY WE WANT TO INVOLVE OTHER MEMBERS OF YOUR FAMILY IN OUR STUDY
We know there is a genetic component to ALPS. However, the development of ALPS in families with mutations in apoptosis genes is not straightforward. For example, we want to know why some family members have an alteration in Fas and no sign of ALPS. Therefore, we would like to study this gene, and other genes, in your family. We have other research questions that may be helped by studying other members of your family. Therefore, we are inviting your family members to join our study by providing us with a small sample of their blood in order to help us answer our research questions.
PARTICIPATING IN OUR STUDY
Each person who is interested in participating will have a chance to discuss study details with the investigators. We will ask each person to read and sign a consent form. All of the tests, evaluations and treatments at the NIH are free. Family members who participate will be helping us better understand ALPS.