Alstrom syndrome

Alstrom syndrome is a highly variable disorder. This means the symptoms that develop, when they develop, and how severe they will become will be very, very different from one person when compared to another. This makes it very hard for doctors to make predictions about prognosis. Generally, Alstrom syndrome lowers life-expectancy and many people face life-threatening medical complications during the 40s and sometimes earlier in life. However, every person is an individual and how the disorder affects an individual may be different. Doctors are studying the disorder to learn more about the underlying processes that cause the symptoms in hopes of better understanding how the disorder progresses and to develop better treatments.

The nonprofit organization Alstrom Syndrome International has detailed up-to-date information on research and treatments for Alstrom syndrome.

Alstrom syndrome is a rare genetic disorder with fewer than 1,000 documented diagnoses worldwide. Because of its rarity, most people, and even most physicians, are not familiar with it. Support groups offer information and support for disorders. A support group may also have advice and resources to help families and people raise awareness of a disorder. Alstrom Syndrome International is a U.S.-based support group for this disorder. Rare disease organizations like the National Organization for Rare Disorders and Global Genes may also be able to help spread information and awareness of Alstrom syndrome.

Infants with Alstrom syndrome often show symptoms within the early stages of life. The first few years of a child's life are critically important to a child's development. States have federally-funded early intervention programs that support families that have concerns or issues with their children's development up to the age of three. Some states continue to offer early intervention programs beyond the age of three. Other states will transition a child into school-based programs that can be provided at home. In some states, a child may be eligible for early intervention services at no charge. Other states may charge a fee, depending on the agencies involved.

The U.S. Centers for Disease Control and Prevention have information about early intervention programs and a listing of what each state offers.

Taking care of someone with a long-term or chronic condition can be tiring and challenging and Alstrom syndrome is no exception. If you are a caregiver in need of support, try to take time for yourself, set aside time for personal counseling, or look for other resources at the Caregiver Action Network. This organization works to improve the quality of life for people who care for loved ones with chronic conditions, disabilities, disease, or the frailties of old age. Support groups can also help provide support and advice for caregivers.

In February of 2018, the National Alliance for Caregiving put out a report called Rare Disease Caregiving in America.

Support groups for Alstrom Syndrome include Alstrom Syndrome International and Alstrom Syndrome UK.

General tips for caregivers from a psychologist with experience in the field can be found in this ThinkGenetic article .

Alstrom syndrome demands a lot of time and focus from parents. As with similar disorders, it is easy for healthy siblings to feel as if they have been pushed aside. Although studies have shown that siblings of children with chronic illness tend to develop strong levels of compassion and empathy, these studies have also shown that siblings can develop feelings of jealousy, anger, and high levels of anxiety. Parents can work with siblings by having clearly defined roles and responsibilities within the family structure. Parents are encouraged to make time for activities especially for healthy siblings and to talk with and encourage healthy siblings to address their concerns and feelings. Some children may benefit from support outside of the immediate family including therapists or doctors. The Sibling Support Project is a nonprofit organization that serves the concerns and needs of siblings of people with special health, developmental, and mental health needs.

Intelligence is usually not affected in Alstrom syndrome. Some children may have delays in reaching their developmental milestones. Children may also struggle in school or have problems learning or with homework. This is most likely because of vision and hearing problems that can be present from a very young age. Parents can take various measures to accommodate vision loss or hearing loss in developing children.

The Foundation Fighting Blindness and the American Council of the Blind are organizations that may provide advice about vision loss.

Organizations that can help children with hearing loss include Alexander Graham Bell Association, National Association of the Deaf, and American Society for Deaf Children.

Carriers of an ALMS1 gene with a change, also called a variant, that causes Alstrom syndrome do not develop symptoms of the disorder. They are at risk of passing the variant gene on to their children who would also be carriers. If the other parent also carried a variant ALMS1 gene, then there would be a 25% chance for each pregnancy that the child will have the disorder, a 50% chance the child would be a carrier, and a 25% chance that the child would not be a carrier nor have the disorder.

To find a nearby medical professional who can discuss information about gene changes in Alstrom syndrome, the National Society of Genetic Counselors website offers a Find a Genetic Counselor tool on its website. This can help people find a genetic counselor within the United States. The Medline Plus Genetic website has information on the ALMS1 gene.

While the symptoms of Alstrom syndrome can vary, many children will experience vision loss or hearing loss. Heart disease and diabetes can also affect children. These children may need special accommodations in school. They are eligible for an individual education plan (IEP) or a 504 plan. An IEP is a document that helps to guide the education of a child with a disability or special needs. The plan is individualized for each student. A 504 plan ensures that students with disabilities can fully participate in school and have access to the same educational opportunities as other children. Parents are encouraged to provide their child's school with a packet of information on Alstrom syndrome and to work with school officials including teachers, nurses, psychologists, the principal, and other professionals.

Global Genes, a rare disease advocacy organization, has a RARE Toolkit that advises parents on advocating for their children at their school.

The U.S. Department of Education has information on individual education plans and on 504 plans.

The nonprofit organization, Alstrom Syndrome International, may be able to provide information and support regarding these issues for children with Alstrom syndrome as they enter school.

You did not do anything to cause your child to have Alstrom syndrome. You also could not have done anything to prevent this from happening in your child. When an egg and a sperm first meet to form a baby, there is genetic information from the mother and from the father that combine together. Parents of a child with Alstrom syndrome are carriers for this disorder and have a 25% risk with each pregnancy to have a child with Alstrom syndrome

Talk to a genetic counselor to learn more about the genetics and inheritance of Alstrom syndrome. To find a genetic counselor near you, visit the Find a Genetic Counselor tool on the National Society of Genetic Counselors website. This can help parents find a genetic counselor in the United States.

The nonprofit organization Alstrom Syndrome International has a newsletter called Panoramic Views that keeps families up to date on research, news, and events and other issues and concerns pertinent to Alstrom syndrome. You can contact them at their website.

It is recommended that children and adults with Alstrom syndrome received psychosocial support. This means that they should receive help for any psychological or social problems they may have. Alstrom syndrome causes people to alter their life and can lead to feelings of isolation, anxiousness, depression and frustration. These are normal feelings for individuals and families dealing with a chronic illness. Talk to your doctor and medical team about how to deal with such issues. Children or adults who are slowly losing their sight or hearing can be fearful and apprehensive. This can be extremely difficult for children to deal with and they may be reluctant to talk to their family about it. For depression or other mood issues, counseling by a psychologist or being treated by a psychiatrist may be helpful as well. It is also beneficial to talk to other people and families that are dealing with the same challenges. Support groups can provide support and networking opportunities. Alstrom Syndrome International is a support group that helps people with Alstrom syndrome.

Eating right and getting proper nutrition is important for children and adults with Alstrom syndrome. Following a healthy diet and getting proper nutrition is important for everyone, but especially important for people with Alstrom syndrome who have an increased risk of developing diabetes and obesity. Individuals with Alstrom syndrome or parents of affected children should talk to their medical team about eating right and proper nutrition. A nutritionist should be part of the medical team and individuals and parents of affected children should not begin any diet without consultation with their medical team.

Children and adults with Alstrom syndrome must be followed closely by their doctor and entire medical team. Routines examinations are necessary to detect the development of eye symptoms, hearing loss, pulmonary disease, kidney disease, liver disease, diabetes, heart disease, and the other potential symptoms associated with this disorder. The frequency of these evaluations will vary depending of the severity of Alstrom syndrome in the individual. Your doctor and medical team will work with you to development a schedule for surveillance.

The medical cost of Alstrom syndrome can be significant. Some families lack the resources necessary to provide for a chronically ill or disabled child. There are several organizations that provide financial assistance.

The Social Security Administration (SSA) in the United States provides disability benefits for people who qualify. Alstrom syndrome is not listed in the publication called the Disability Evaluation Under Social Security, also called the "Blue Book." However, people with Alstrom syndrome may still qualify for assistance if they have certain symptoms that qualify.

The SSA also has a program called Supplemental Security Income, which is designed to help disabled people with little or no income. It is mainly set up to help with basic necessities.

The National Organization for Rare Disorders has links to organizations that can also provide financial assistance.

The National Human Genome Research Institute has extensive information on finding financial aid for medical treatment and services.

There have been rare reports of children with Alstrom syndrome experiencing delays in speaking or in having difficulties with speech. This may be related to hearing loss, and vision loss that occurs in young children with this disorder. Most children grow out of these problems and speech is usually not affected by this disorder.

Alstrom syndrome is a genetic condition and as of February 2021, there is no cure. A person will never outgrow the disorder. Alstrom syndrome can affect people very differently and it is difficult to say how exactly the disorder will affect people during their lives. People with Alstrom syndrome will receive periodic evaluations to see what symptoms develop and how severe they become over time. For example, hearing loss gets worse over time, children with Alstrom disease can develop diabetes as teens and kidney problems develop can also develop later in adolescence and get worse over time. Careful monitoring of symptoms can help ensure early medical treatment.

There are medical registries for Alstrom syndrome. These databases are set up by researchers to collect information about patients with a particular disorder or group of disorders. This information helps researchers learn about a disorder, plan or study treatments, determine how a disorder progresses and other information. Patient registries require that patients either directly or through their doctor submit personal information. The Alstrom Syndrome Registry is maintained by Jackson Laboratory in Bar Harbor Maine. The support group Alstrom Syndrome UK also has a patient registry.

Talk to a genetic counselor about the pros or cons of participating in a patient registry. The National Society of Genetic Counselors website offers a Find a Genetic Counselor tool on its website. This can help people find a genetic counselor within the United States.