Just diagnosed
If you have just learned that your, your child, a relative, or a friend has Gaucher disease, the odds are that this is the first time you have ever heard of this disorder. Gaucher disease is not very common, and until recently it has received very little public attention.
Uncertainty can breed concern and the anxiety many individuals have about the disease is due in part to a lack of information. In fact, since Gaucher disease was first identified over 100 years ago, much has been learned about the nature of the disease, as well as how the syptoms and psychological effects can be managed. Research conducted over the past 30 years has also led to new approaches to treatment that can reverse the major symptoms of the disease.
Gaucher disease (pronounced go-shay disease) is an inherited disorder. Symptoms of the disease can vary from very mild to severe, and they can appear at any time, from infancy to old age. In affected individuals, however, the genetic cause is present from the time of conception.
Individuals of any ethnic or racial background, including blacks and Hispanics, may be affected but it is more prevalent among people of Jewish origin.
This section is designed to guide you around the parts of our website that will provide you with some information about Gaucher disease and answer some of the common questions that we get asked.
The five steps
This section outlines how the disease is diagnosed and what patients can expect after being diagnosed with Gaucher disease.
This section provides links to useful publications on Gaucher disease.
This section provides information on the emotional and social aspects of Gaucher disease.
Support
This section outlines what support is available to patients, their family and friends.
This section outlines the various ways to get involved with the Gauchers Association
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How is the disease diagnosed?
The process of diagnosing many diseases, and especially Gaucher disease, is not always straightforward. Often, the patient initially visits the physician for another problem such as the flu, for nonspecific pain, or for a routine physical. Although making a diagnosis of Gaucher disease is not difficult, some symptoms may resemble other diseases. The physician may first perform other tests to eliminate from consideration more common disorders. For example, in cases where patients have low platelet counts, physicians may first test for leukemia. If a patient complains of joint pain, the physician may first suspect arthritis. Sometimes a specialist physician, like a geneticist or hematologist, may be helpful in distinguishing the symptoms of Gaucher disease from other diseases with similar symptoms.
Gaucher disease might be suspected in a person who has an unexplained enlargement of the spleen or a tendency toward bleeding, or bone or joint pains, or spontaneous fractures. A pediatrician might make the diagnosis in a child complaining of abdominal discomfort or of frequent nosebleeds. A hematologist might make the diagnosis in a person with low blood or platelet counts. An orthopedist might diagnose Gaucher disease in the course of treating someone suffering from frequent unexplained fractures. Gaucher disease would be particularly suspected in people with blood relatives who have the disease. Physicians should be notified if there is a family history of genetic disease.
What can I expect after I have been diagnosed?
Patient Pathway at a Gaucher Centre: click here to see visual pathway
Diagnosis of a rare condition such as Gaucher disease is not always straightforward. A referral will be made to a specialist centre (known as Lysosomal Storage Disorders Units) if a patient develops signs and symptoms associated with the disorder warranting further investigation. Others may be referred following the diagnosis of another family member and genetic screening has been recommended to identify other affected individuals within the family, particularly in brothers and sisters. Referrals also come from other hospitals where a confirmed diagnosis of Gaucher has already been established and expert advice on management of the patient is sought.
The first point of contact for patients and relatives is usually with one of the specialist nurses who will arrange for an early appointment to attend the clinic for a range of diagnostic tests, medical assessment, genetic counselling, advice on current treatment options and the systems in place for delivery of treatment. Even before the first visit to clinic, the centres will offer a telephone help line providing advice on Gaucher and everything you may need to know about the services available.
The actual diagnosis of Gaucher is relatively simple to make as it can be made on a blood test sample which measures the level of the enzyme gluco-cerebrosidase (known to be deficient in Gauchers disease) in white blood cells. Because Gaucher is an inherited genetic disorder a blood sample to analyse the DNA will also be taken to confirm the diagnosis and identity the particular mutation, there are several known genotypes (changes in the gene) associated with Gaucher and the type of mutation may be helpful in predicting the severity of the condition, some genotypes predict a mild form, others indicate that the symptoms may prove more serious if left untreated. These blood tests will be taken at the first attendance at the clinic to confirm or exclude Gaucher. Because samples are taken for DNA analysis, informed written consent will be required from the patient before the sample is obtained. For those younger than 16 years of age, a parent or guardian may sign the consent.
In the clinic or even over the phone, the nurses and doctors will provide a clear and understandable explanation of what causes the disorder and describe the typical signs and symptoms involved. The inheritance pathway will be explained so that other ‘at risk’ family members can be identified. They will explain how the condition is treated and monitored. Not all people with Gaucher will necessarily need treatment since severity varies widely and many have a milder form which may never require treatment merely needing regular monitoring to observe for signs of progression. If there is evidence that the condition has progressed over time in someone not previously on treatment, then treatment options and recommendations can be discussed with the team.
Because Gaucher affects a number of organ systems there will be several tests and investigations arranged to determine the level of effect on the bones, bone marrow, liver size and function, spleen size and function. Occasionally the lung can also be affected although this is less common. The later or adult onset type of Gaucher does not usually affect the neurological and central nervous system but tests and assessments to exclude neurological involvement will also be performed. The advantage of attending a specialist centre is that there will be access to a wide range of clinicians, surgeons and services with expert knowledge of how Gaucher can affect the various systems.
A new diagnosis of Gaucher, especially if no one else in the family has previously been identified can come as a shock. The team at the centre will be there to help and support you through the process of diagnosis right from the beginning. The staff are specifically assigned to the service and you will receive continuity of care often dealing with the same staff members throughout diagnosis to treatment and long term follow up.
During the first few outpatient visit to the Gaucher clinic a newly diagnosed patient can expect to undergo the following tests as part of a typical assessment: click here to see the list of tests.
Treatment - As soon as the results of these tests (which should all be available within 1-2 weeks of testing a follow up appointment will be arranged to discuss all the test results with the doctors and nurses who will advise you if treatment is advocated. There are currently 2 licensed treatments available for Gaucher: Enzyme replacement therapy (ERT) with Cerezyme® (Imiglucerase) (Genzyme) and Substrate reduction therapy (SRT) with Zavesca® (Miglustat) (Actelion). ERT is given by infusion every week or every 2 weeks. Zavesca is an oral preparation with dosing given three times daily.
If the treatment option is to start ERT the nurses will arrange for a short stay admission to the day care unit as an outpatient to receive the first few infusions. Cerezyme is generally well tolerated and the infusion time is quite short at an average duration of 60 to 90 minutes. Provided the infusion is tolerated without any significant side effects then treatment can switch to home care provided by one of the commercial home care companies contracted by the hospital. The nursing staff are skilled at blood taking, cannulation and administration of intravenous therapies, if you wish to learn how to self administer ERT (and many patients do) then the hospital and home care nurses will undertake a training course to teach you or a family member how to do this. Not all patients prefer this option and a local hospital or clinic will be found for them to attend to receive their infusions.
Most, if not all the visits to hospital for treatment and assessment can be accomplished on an outpatient basis, it is very unusual to require an admission to hospital.
Follow up appointments are to assess response to treatment in those patients on ERT or SRT. These are usually every 2 - 3 months initially and then 4- 6 monthly once the disease has stabilized. More frequent visits may be required initially if the platelet count is very low.
For patients who travel long distances from the centres then a shared care arrangement can be organized with a local hospital for interim assessments.
The centres offer a holistic approach to care and internal referrals to a wide range of multidisciplinary healthcare professionals is available and are complementary to the LSDU team. These are typical examples of the specialists available:
- Orthopaedic Surgeons: For advice and surgical intervention such as hip replacement and revision of previous joint replacement.Radiologists: To interpret and report on imaging scans such as MRI, X-Ray, CT and ultrasound. They will have specific knowledge of how Gaucher affects the organs and skeletal system. Will review the follow up imaging to report response to treatment over time or identify any signs of disease progression which may prompt the start of treatment or signal the need to increase the dose or frequency or ERT/SRT or switch to another treatment.
- Anaesthetists and Clinical Nurse Specialists: Who specialise in pain management. Some patients with severe skeletal involvement may suffer from both acute and chronic bone and joint pain. Doctors (usually anaesthetists) and nurses specialising in the management of pain are available to provide advice and can prescribe analgesia tailored to the specific needs of individual patients.
- Haemostasis Specialists: People with Gaucher frequently have abnormal clotting function this may be due to deficiencies in clotting factors such as factor X1. Doctors specialising in this area may be called upon to offer expert advice if a Gaucher patient is about to undergo a surgical or dental procedure. During pregnancy in Gaucher, patients who are known to have clotting abnormalities will be monitored by these specialist services and laboratories during pregnancy, birth and post natal period.
- General Surgeons: Provide general surgical procedures within the specialist centres ensuring that the specialist Gaucher team will be on site to provide expert advice on management during the procedure, for instance gallstones occur quite frequently in Gaucher and if symptoms are debilitating then surgical intervention may be indicated.
- Hepatology: Physicians specialising in the effect of Gaucher on liver function. Severely affected individuals may have liver involvement such as cirrhosis. Since the availability of effective treatment it is now rare for this to develop.
- Obstetric Services: Pregnancy can sometimes place an additional stress on women who have Gaucher disease and it is useful to have specialist input and support from the Gaucher team during the pregnancy through to delivery of the baby. The decision to continue or stop ERT during the pregnancy can be discussed with your medical team and obstetrician. For those patients planning to give birth at their local hospital a shared care plan will be arranged with the local obstetric team.
Because Gaucher is a rare condition which may require long term, perhaps life long treatment, follow up and continuity of care is very important to patients and family. The specialist centres are able to provide this continuity in a holistic manner. Patients will come to know their team well as they are likely to meet the same staff each time. Patients find reassurance in the knowledge that they are free to contact them through the helpline at any time. Many people affected by Gaucher express frustration when having to explain their condition over and over again to other medical professionals they may consult outside the specialist centre, a direct route to the Gaucher clinic is helpful to patients and other doctors and dentists involved in their general care.
Research and Development - Many of the centres are actively involved in research, the aim is to gain more information about the natural history of Gauchers and to try and improve treatment. Information about clinical trials will be available to patients who may wish to participate in these studies sometimes involving new drugs for Gaucher.
Below are links to two books on Gaucher Disease and other publications that have been developed by pharmaceutical companies in partnership with patient organisations as a resource to support patients, their families and friends in understanding the disease in simple laymen terms.
Gaucher Disease edited by Prof. Futerman and Zimran
Gaucher Disease, Bailliere's Clinical Haematology edited by Prof. Zimran
A-Z of Gaucher disease by Actelion Pharmaceuticals
Living with Gaucher Disease by Genzyme Therapeutics
Pharmacological Chaperones by Amicus Therapeutics
Missing Chaperone by Amicus Therapeutics
Protalix plant cell expressed recombinant Glucocerebrosidase enzyme (GCD)
Shire Human Genetics Patient Information booklet
3. Living with Gaucher disease
What are the emotional and social aspects of Gaucher disease?
People with Gaucher disease, their spouses, and friends may face a wide variety of emotional and social challenges in addition to the physical limitations or complications posed directly by the disease. Which issues have to be dealt with, and to what degree will depend directly on the severity of the disease in each individual. People with Gaucher disease may find that over time they experience some, none, or many of the following challenges.
What about the uncertainty?
One of the most common emotional concerns posed by Gaucher disease relates to the feelings of isolation and ignorance about the disease. There is often a feeling of great uncertainty because the symptoms and their severity may vary widely and they may occur at any time. Some people remain symptom-free for many years, while others may begin having symptoms very early in life. This uncertainty can add considerably to the usual difficulties in making short and long-term plans and in setting goals. In addition, people with Gaucher disease and Gaucher carriers face difficult decisions, with no easy answers, about marriage and children. For example, if they have the disease, will they have the physical stamina to raise children, or will their children be affected by the disease. However, this uncertainty sometimes adds to the development of exceptional inner strength that many people with chronic illnesses often possess.
Is the disease painful?
The pain associated with Gaucher disease can range from very mild to extremely severe. Coping with the pain if it does become severe can be a major challenge for people with Gaucher disease. At times painful episodes may occur involving enlarged organs or affected bones. These episodes usually resolve within a week or two, but they can last longer. Sometimes potent medication may be necessary to control the pain during these episodes.
Some people with Gaucher disease go through periods of severe skeletal pain known as "bone crises." Joints swell, become shiny, red and inflamed, and actually feel warm to the touch. Sometimes the slightest movement can elicit excruciating pain. if the pain becomes sufficiently severe, it may prevent people from moving about comfortably, or make it difficult to sleep.
Adults and the parents of children with Gaucher disease work with their physicians to learn which analgesics or pain relieving techniques work best for them. In addition, they learn how to manage their lives to minimize the pain.
Is fatigue a problem?
Another challenge faced by some people with Gaucher disease is fatigue that may occur as a consequence of anemia. People who are severely anemic may feel tired, even after a full night's sleep. Some children may lack the energy and stamina to play with other children. They may have difficulty staying alert in the classroom, or concentrating on their homework. It is important for many people with Gaucher disease to include naps in their daily schedules to help combat bouts of fatigue. Ordinary activities that a healthy person can do easily may require more effort for a person with Gaucher disease. Many people find that they can do what they please if they are careful to pace themselves and ask for help when it is needed.
How does the disease affect mobility?
At different times, the effects of Gaucher disease can irnpair mobility for some people. Walking can become tiresome and difficult- especially for long distances or up and down stairs. A decrease in mobility may occur as a response to a bone crisis or as a result of a bone fracture. The use of ambulatory aids such as a wheelchair, crutches, cane, or walker may be helpful in these situations. In rare instances, the lack of mobility may become so severe that a person requires hospitalization or confinement to bed. For children, this can result in missed days from school. Adults who are working may require extra time off from work. Life-style changes can help to conserve energy and minimize the strain on bones and joints.
How does Gaucher disease affect appetite?
Pronounced liver and/or spleen enlargement can frequently affect a person's appetite because of the pressure exerted on the stomach. People with Gaucher disease often report a sensation of feeling full, even after having only a few bites of food. The enlarged organs leave little room in the body cavity for a full stomach. People with Gaucher disease may take longer to eat because their stomachs fill up so quickly. The fact that they may not eat much can become distressing for themselves and for family members. In these situations, empathy about the difficulties associated with mealtimes is helpful. Those people with digestive difficulties will also discover which foods or eating habits should be avoided in order to minimize digestive complaints.
How does Gaucher disease affect appearance?
Body image can be a difficult challenge for Gaucher patients who suffer from pronounced spleen and/or liver enlargement. Children and adults may be teased or ridiculed and accused of being fat, looking pregnant, or otherwise of being "different." For children, who can be very conscious of their appearance, such treatment can be particularly unpleasant and can hurt their self-image. In addition to dealing with the inherent problems of Gaucher disease, they have to contend with unjust comments focused on their appearance. In these situations, shopping for clothes that fit properly and are comfortable becomes important for children and adults. Individuals with pronounced abdominal protrusions may find that clothes, which are loose fitting or made of stretch fabrics, are often the most comfortable. Dungaree jeans and other clothes with more defined waisthands may put too much pressure on the enlarged organs.
What happens to children with Gaucher disease?
Children with Gaucher disease may grow more slowly than other children. They may be smaller and shorter because more of their energy is used to cope with the disease, and less is available for the growth process. They may be below the normal percentile in growth and in weight for children of their age. These children may also appear clumsy and off-balance because of their enlarged organs. Parents and teachers may have the tendency to baby children with Gaucher disease because sometimes they appear younger than their peers.
Teenagers with Gaucher disease frequently experience a delay in the onset of puberty. By their late teens, most children with Gaucher disease catch up with the rest of the population. They generally obtain their genetically programmed height and experience normal sexual development. However, the delayed onset of changes may cause some psychologic difficulties during adolescence.
Depending on the severity of the disease, Gaucher children with reduced agility, with a tendency toward bleeding or bone fractures, or with enlarged spleens may be advised by their physicians to avoid contact sports. Instead they may be encouraged to take up noncontact sports, such as swimming, bicycle riding, or dance. If their physical endurance is low because of breathing difficulties or anemia, "nonaerobic" activities may he preferable. More severely affected children with Gaucher disease should be careful about playing sports if they are susceptible to bone breaks, bruising, and fractures. However, less affected children can certainly participate in all but the most aggressive contact sports. A child who is strong enough to he actively interested in sports should be encouraged to participate and to learn to gauge the limitations of his or her own body.
It is important to encourage other activities to help the more severely afflicted group of children with Gaucher disease to develop outside interests and healthy socialization skills. Children will often compensate for the things that they cannot do by excelling in other areas of their lives. Physicians and families can work together to determine which activities are most appropriate for children with Gaucher disease. Schools are often willing to develop alternate activities and programs for children with physical limitations.
What are some issues that may face parents of children with Gaucher disease?
Being the parent of a child with Gaucher disease can involve difficult decisions that other parents do not have to face, and for which there is often no clear advice. Gaucher parents must decide with their physicians, if their child's activity should be restricted. They must balance the physical risks with their child's need to fit in with other children. Gaucher parents must choose how and when to inform their child of his or her condition. They must decide whether to inform others such as school officials or friends. Parents must offer emotional as well as practical relief if their child suffers episodes of pain.
Family dynamics and relations between brothers and sisters (siblings) may shift as attention becomes focused on or away from the child with Gaucher disease. Marriages can come under stress. Siblings and/or parents may feel guilty or resentful.
The emotional issues associated with Gaucher disease can become especially upsetting for children who are at an age when it is so important "to be like" other children and to "fit in" with their group. They may become frustrated if they do not look like other children, and cannot always do the same things that other children can do. By understanding their child's emotional needs, parents can help the child to deal with the hurt that he or she may be experiencing. Physicians and other community resources can often bring invaluable support to families with chronically ill children. Sometimes just sharing these concerns with others can be very helpful.
What are some of the issues that face adults with Gaucher disease?
For individuals with Gaucher disease who first experience disabling symptoms in adulthood, the psychological impact can be great. Adults may feel that they used to have much more stamina to he able to enjoy the varied pleasures of life. They were busy with their families, careers, and social lives. They were independent and mobile. An abrupt onset of severe symptoms may suddenly interfere with career and life plans. For other adults who experience mild to minimal symptoms, the disease may have only minor effects on their lives. Sometimes, they forget about Gaucher disease altogether. As the disease progresses, some adults may feel drained and burdened by their limitations. They are forced to make life-style changes, to pace themselves, and to learn to adapt to their new situation.
The Gauchers Association prime objectives is to provide support and information to Gaucher patients and their families. Here are just a few ways in which we can support you:
Benefits - we can help you to complete benefit forms and provide information on the effects of having Gaucher disease. For example; Disability Living Allowance, Housing Benefits, Carers Allowance.
Talk to other members - we can provide a listening ear if you need to talk to someone or put you in touch with other gaucher patients and their families who may have the same experiences. For example; pre-natal testing.
Representation - we can appear in person for/with you if you need representation at an Appeal hearing for benefits or in other circumstannes where our support may help you.
Insurance - we can provide information and useful contact numbers of Insurance Companies that may be able to assit n you in obtaining Travel and Life Insurance.
There are many ways for members, their friends and family to become involved in the Association, here are a few;
Join the Executive Committee - we are always lookng for new people to join the Executive Committee. Members are welcome to come along to our meetings which are held every three months.
Join one of the Association's working groups - Research; Fundraising; Communications - these groups work under the direction of the Executive Committee.
Newsletter Editorial - we need people to help put our bi-annual newsletter together.
Website Editorial - we need people to help update and proof read our website.
Attend meetings on behalf of the Association - the Association is represented at many meetings all over the UK and Europe and we welcome members to attend these meetings to represent Gaucher patients and their families.
Support new patients and their families - the Association recieves calls and e-mails from newly diagnosed patients who are seeking support and advice, we like to be able to refer them to members who have been through the same experience and/or are of simlar age. We are always looking for new members to help with this.
Fundraising activities - the Association is supported soley from donations from members, their friends and families and independent funding sources. See our Fundrasing page for ideas on fundrasing events and request a fundrasing packs.
Download: A-Z of Gaucher Disease