Gaucher disease is an autosomal recessive disease and the most prevalent Lysosomal Storage Disorder (LSD), with an incidence of about 1 in 20,000 live births. Despite the fact that Gaucher Disease consists of a phenotype, with varying degrees of severity, it has been sub-divided in three subtypes according to the presence or absence of neurological involvement. The sub-types are Type 1, 2 and 3.
Gaucher disease results from a specific enzyme deficiency in the body, caused by a genetic mutation received from both parents. The disease course is quite variable, ranging from no outward symptoms to severe disability and death. Carrier status can be detected through blood or saliva to identify potential carriers of the Gaucher gene. Gaucher disease can be diagnosed early through a blood test.
The most common symptoms of Gaucher disease are enlargement of the liver and spleen, anemia, nose bleeds, reduced platelets (resulting in easy bruising and long clotting times), bone pain ("bone crises"), bone deterioration, bone infarctions often leading to damage to the shoulder or hip joints, and a generalized demineralization of the bones (osteoporosis). The weakening of the bones can then lead to spontaneous fractures. The course of the disease is quite variable, ranging from no overt symptoms to skeletal problems, liver or spleen damage, bleeding, or other problems.
The symptoms described above, to a greater or lesser degree, also affect individuals with Type 2 and 3, but the neurological involvement is what separates Type 2 and 3 from Type 1; the most common form of Gaucher disease.
Gaucher disease has the earliest onset, within the first 3 to 6 months of life and it is fatal; causing death before 2 years of age. Due to the shortened lifespan, babies with Type 2 will not survive long enough to develop some symptoms experienced by individuals with Type 1 and Type 3.
Gaucher disease Type 3 is typically described as having somewhat later onset of visceral and central nervous system involvement, and a more protracted course with survival potentially into the 2nd to 4th decade.
Gaucher disease Type 3 has been divided into two variants, termed Types 3b and 3a. Type 3b has earlier onset of massive livers and spleens. They can also experience direct involvement of the lungs and rapidly progressive bony disease. The central nervous system involvement can include abnormal eye movement and slowing of development. These children are usually quite ill and require substantial nutritional support for growth. The neurologic involvement appears to be slowly progressive or static, and can remain as isolated eye movement abnormalities until quite late in life. The life expectancy without therapeutic intervention is likely to be substantially diminished, and is dictated by the degree of involvement of the liver and spleen, and lungs.
These children usually do not experience the progressivity of bulbar involvement, the laryngeal spasm, nor the feeding difficulties of Type 2 patients, but may have more progressive involvement of the lungs.In contrast, Gaucher disease Type 3a has onset in the late teens to early twenties with a more rapidly progressive deterioration of central nervous system function and relatively lesser involvement of the visceral organs. Importantly, combined variants with features of both Types 3a and 3b are known, and careful clinical follow-up of such patients must be a part of standard care. The variation in Type 3 is greater than that in Type 2 and equal in scope to that observed in Type 1 Gaucher disease. (Information courtesy of the Children’s Gaucher Research Fund at http://www.childrensgaucher.org).
Gaucher patients can receive enzyme replacement infusions. Enzyme replacement has worked well to control the systemic (non-central nervous system) complications most commonly found in Type 1 patients. However, the replacement enzyme has difficulty crossing the "blood brain" barrier, therefore, in the Type 2 and Type 3 form of Gaucher disease, it has had limited affect on the central nervous system, or brain involvement.
Resources, videos, blogs, websites and contacts for Gaucher Type 2 and 3
Andrea Martell Delbouis: Mother of David Escobar who died of Gaucher disease Type 2. Andrea also lost a female child during her third month of pregnancy. Andrea was told that this child was also a Type 2 carrier. If you would like to learn more, please contact Andrea directly as she has volunteered to share her experiences. email@example.com
Gaucher disease Type 2 and 3 discussion list
Click here to Join: http://health.groups.yahoo.com/group/gauchers23
Children’s Gaucher Research Fund: http://www.childrensgaucher.org
Little Miss Hannah website and video: http://littlemisshannah.com
Carrie Ostrea: Mother of Hannah who has Type 2 or 3 Gaucher disease. Please contact Carrie directly if you would like to learn more about her day-to-day experiences in dealing with a child who has Gaucher disease Type 2 or 3. firstname.lastname@example.org
Emily Filomena Schiavone
I always sensed Emily had a extraordinary purpose, yet chose to keep silent about it. Finally, at 2 years old we have received answers we sought since Emily was born. She is a warrior carrying her sword and yields it only when she feels safe..hmmm wonder who she takes after.. ahem DADDY.
We are geared up for this journey which consists of weekly infusions, doctors, and monitoring. We appreciate all the thoughts and kindness sent our way and feel overwhelmed by the generosity from strangers even. Hidden gifts are surfacing everyday with this life experience. Thank you for your interest in our Princess.
Carla Rose Schiavone
Emily Schiavone's website: http://www.caringbridge.org/visit/happysunheart/mystory
Gaucher Mentors: The Gaucher Mentor Program provides people with Gaucher disease the opportunity to connect with others to share experiences, stories, and resources related to Gaucher disease. This program helps to put you in contact with family members or individuals who have Gaucher disease. From testing to treatment, to insurance issues, they are experienced and have problem-solved many of the questions or concerns you may have. http://www.gaucherdisease.org/mentor_program.php