What is a Genetic Conselor?
- Genetic Counselors are health professions that know about the disease you are dealing with, they are there to provide information and support for the family if it is needed.
How does a person inherit Gaucher Disease? Is it dominant or recessive? Is it a genetic chromosomal?
- Gaucher Disease is inherited by an autosomal recessive pattern. The disease is recessive meaning both the mother and the father both cary a copy of a mutated gene. The disease is caused when both copies of the gene are mutated. Yes Gaucher is a genetic chromosomal disease that lacts an enzyme called glucocerebrosidase used to break down glucose;sugars. lact of glucocerebrosidase is the number cause for Gaucher Disease.
What are the possible genotypes of the parents? If the disease is a chromosomal abnormality, describe the abnormality.
- The possible genotypes of the parents of a Gaucher child could be using G,g; (Gg,Gg),(Gg,gg),(gg,gg). When the mother and the father both cary two copies of the chromosome abnormality the child automatically gains the mutated genes, therefore the outcome is gg: Gaucher Disease.
How prevalent is Gaucher Disease in the population?
- For type 1in every 1 in 50,000 to 100,000 people are effected in populations today. Mostly over in Eastern and Central Europe you tend to see Gaucher Disease more. Also it is known to be in Jewish Heritage and effects 1 in 500 to 1000 poeple in the Heritage.
What are the chances of a person with Gaucher Disease passing it to their offspring?
- If a one of the parents is a carrer for Gaucher and the other parent is not a carrier than their offspring has a 50% chance of being a carrier for Gaucher Disease. If both of the parents hold the gene, the offspring has a 25% chance of being a Gaucher Diseased offspring and a 50% chance of becoming a carrier for the disease. Mixed in with all of that the offspring of either carrier parents or effected parents will have a 25% chance of not being a carrier or having Gaucher Disease.
How is Gaucher Disease diagnosed?
- Blood tests, history of your family, symptoms, and a comfirmation of the diagnosage.
What are the physical symptoms of the disease?
- Pain in the bones, bruising very easy, heart problems, skind changes, and lung disease.
What is the life exspectancy of someone wth Gaucher Disease?
- 64-68 years with some treatment.
How can Gaucher Disease be treated?
- Depending on how bad your case is some may not need treatment. For those who do, you can go though Enzyme replacement therapy; replacing missing and needed enzymes with artificial enzymes. Bone marrow transplantation; not performed alot, used for major cases and carriers of Gaucher Disease. A surgical procedure that includes removing dead cells due to disease. Another option would be to just taking medication that have side effects such as weight loss and Diarrhea.
What is everyday life like for Gaucher patients and what is the quality of life?
- Life for Gaucher patients is usally hard and painful, they could die at any point in time and they go through a lot. The quality of life for them is not good, they suffer a lot. Depending on how bad your case of Gaucher Disease is you base you opinon on how you feel.
What are some limitaions for a person with Gaucher Disease have?
- running, walking, and excerise can limit what a person can do because of random blood clots. If a blood clot happens you have to sit and rest for the pressure to release of your joints to stop the pain.
What are some organizations that can help a family cope with a child who has Gaucher disease?
- http://www.gaucherdisease.org/
-http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/12/viewAbstract
How possible is it that a cure will be found for Gaucher Disease?
- The chances for finding a cure for the disease and stopping it for good is very low, but you can always help make it better by doing what your doctor says and
Kayla Gibby- 4 A/B