Bardet-Biedl Syndrome

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My child was just diagnosed with Bardet-Biedl syndrome. What should I do now?

Treating any genetic condition like Bardet-Biedl syndrome is a marathon and not a sprint; not everything can be handled right away, and it is important to celebrate the milestones. The first order of business is addressing any of a child's immediate medical problem with a doctor. Afterward one should have a child evaluated for developmental and speech delays; knowing the specific services a child requires will help parents guide their child toward the growth they need to improve on those delays. Speech, physical, occupational and vision therapies may assist a child in this process. Furthermore, a child's parents should speak with her school's teachers and administrators to best accommodate her needs.

References
  • http://www.bardetbiedl.org/what-is-bbs/#seven
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Does everyone with Bardet-Biedl syndrome lose their vision?

How does Bardet-Biedl syndrome affect lifespan?

I know someone with Bardet-Biedl syndrome; is that different than my diagnosis of Bardet-Biedl syndrome?

Where can I find information on how to work with my child’s disability if they have Bardet-Biedl syndrome?

Can men with Bardet-Biedl syndrome have children?

How common are behavioral problems in people with Bardet-Biedl syndrome? How should the behavioral problems be managed?

Does everyone with Bardet-Biedl syndrome lose their vision?

While all people with Bardet-Biedl syndrome experience some vision loss, the degree and progression among them may differ. Some may be considered legally blind by their teens, others may live until middle age before facing this blindness. Despite this blindness, those affected tend to retain some degree of light sensitivity. Due to the way the retina degenerates, most with Bardet-Biedl syndrome begin losing their sight in dim light (night blindness), losing the acuity of their color vision, or losing their peripheral vision. Others may experience uncontrolled eye movements (nystagmus), eyes looking in different directions (strabismus), the eyeball becoming too long (high myopia), glaucoma and cataracts.

References
  • http://www.bardetbiedl.org/what-is-bbs/#seven
  • http://www.ncbi.nlm.nih.gov/books/NBK1363/
How does Bardet-Biedl syndrome affect lifespan?

The lifespan for people with Bardet-Biedl syndrome varies, in large part depending on the severity of their symptoms and how well these are managed. Bardet-Biedl syndrome does increase the risk for early death, primarily due to kidney disease.

References
  • https://www.counsyl.com/services/family-prep-screen/diseases/bardet-biedl-syndrome-bbs1-related/
I know someone with Bardet-Biedl syndrome; is that different than my diagnosis of Bardet-Biedl syndrome?

Research does not yet know a clear correlation between the different genes mutated and the symptoms caused, or their severity. Whether an individual has a mutation in, for example, the BBS1 gene or the BBS10 gene, she will show Bardet-Biedl syndrome. Some research suggests that people with a mutation in BBS1 show less severe eye symptoms and that people with a mutation in BBS10 are more resistant to insulin (and thereby have a higher risk of obesity). However, larger studies have not confirmed these relations between specific mutations and specific symptoms.

References
  • http://www.bardetbiedl.org/what-is-bbs/#seven
  • http://www.ncbi.nlm.nih.gov/books/NBK1363/
Where can I find information on how to work with my child’s disability if they have Bardet-Biedl syndrome?

For parents and families of children with genetic diseases like Bardet-Biedl syndrome, all states have a Parent Training and Information Center (PTI) offering information on early interventions, school services, therapy, local policies, transportation and more. Some states also have Community Parent Resources Centers that offer similar support. More information on both and a map of the different states and their services can be found at http://www.parentcenterhub.org/find-your-center/.

Can men with Bardet-Biedl syndrome have children?

Most men with Bardet-Biedl syndrome do not produce enough sex hormones to have children. However, men with Bardet-Biedl have fathered children in at least two reported cases.

References
  • https://rarediseases.info.nih.gov/gard/6866/bardet-biedl-syndrome/case/39804/case-questions
How common are behavioral problems in people with Bardet-Biedl syndrome? How should the behavioral problems be managed?

Approximately 33% of people with Bardet-Biedl syndrome have some form of behavioral problem. Managing these behaviors should be handled on an individual basis and therapies should target their specific presentation. Some common behavioral problems include depression, temper tantrums, misreading social cues, obsessive compulsive behavior, inattention and emotional immaturity. Early interventions and behavioral therapies may help.

References
  • https://rarediseases.info.nih.gov/gard/6866/bardet-biedl-syndrome/case/33910/case-questions
  • http://www.ncbi.nlm.nih.gov/books/NBK1363/

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