Frequently Asked Questions
PID Treatment
What is a bone marrow transplant?
The cells in the bone marrow (stem cells) are abnormal in patients with WAS and need to be replaced with healthy, donor stem cells to cure the disease. The process by which these abnormal cells in the patient are replaced with healthy donor cells is referred to as a bone marrow transplant (BMT for short).
The basic steps of a BMT are:
- The patient’s blood forming stem cells are destroyed using medications. This helps to make place for the donor cells in the marrow. It also destroys the patient’s immune system, allowing the patient's body to accept the donor cells. The donor cells are given to the patient in a process similar to a blood transfusion.
- The donor cells grow and multiply, curing the patient.
- Medications are given to facilitate the patient to accept the donor cells and to prevent the patient and donor cells from reacting against each another.
Patients are usually in the hospital for 1-2 months during the transplant and have to be under very close and regular supervision for 1-2 years after the BMT.
What is gene therapy?
In its current available form, Gene Therapy (GT) is an experimental therapy that aims to replace the defective gene with a copy of the healthy gene. This allows the cell to start producing normal protein in hopes of curing the disease. Scientists have found that one of the most efficient ways to introduce the corrected gene into the cell is to use modified viruses. Scientists first inactivate the virus so that it cannot produce disease and then "load" it with the "normal gene"(for example, the WASP Gene in the case of WAS). These "loaded" viruses, referred to as "vectors", are then used to introduce the normal gene into the patient.
What happens during GT?
The following are the four basic steps of gene therapy.
- The vector is prepared and loaded with the normal gene, in preparation for introduction into the patient.
- Doctors collect blood-forming stem cells from the patient's bone marrow or the blood. These cells are then grown in large numbers outside the body. Next, these cells are mixed with the vector. The virus infects these cells, converting them to repaired cells.
- The patient is then given chemotherapy, in preparation for GT. This helps make space in the marrow for the repaired cells to multiply and to make sure that the patient’s body does not reject the repaired cells.
- The repaired cells are now introduced into the patient in a process similar to blood transfusion.
These repaired cells then continue to multiply, forming more numbers of normal cells. Over time, the repaired cells should produce enough to cure the patient.
Where can I find a Support Group or Organization?
FAQs for Severe Combined Immunodeficiency Disease (SCID)
Why have medical professionals called Severe Combined Immunodeficiency Disease (SCID) a pediatric emergency?
SCID is a group of congenital disorders (disorders present at birth), in which affected infants fail to develop T-cells, a critical component of the immune system. As a result of severe infections, the condition can be fatal in infancy, unless treated with bone marrow transplantation, enzyme replacement therapy or gene therapy. SCID infants should be isolated from infections as soon as possible. Costs for treatment are usually lower if a child is diagnosed within the first 3 1/2 months of life before major infections develop. The diagnosis of SCID very early in life is a true pediatric emergency.
How common is SCID?
There is no central record of how many babies are diagnosed with SCID in the United States each year, but the best estimate is somewhere around 40 -100 per year. SCID is a rare condition, but is as frequent as some conditions that newborns are currently tested for, such as biotinidase deficiency or certain metabolic disorders. This number does not account for deaths from undiagnosed SCID-related infections. The actual number of cases may be higher.
How is SCID diagnosed?
Clinical diagnosis is difficult without positive family history of SCID, or characteristic infection history. Blood tests for SCID typically reveal significantly lower-than-normal levels of T cells and a lack of germ-fighting antibodies. Genetic testing generally provides with specific diagnosis.
Is there effective treatment for SCID?
The most effective treatment for SCID is transplantation of blood-forming stem cells from the bone marrow of a healthy person. Bone marrow stem cells can renew themselves as needed and produce a continuous supply of healthy immune cells. A bone marrow transplant from a tissue-matched sister or brother offers the greatest chance for curing SCID. However, most patients do not have a matched sibling donor, so transplants from a parent or unrelated matched donor are often performed.
Can SCID be detected before birth (prenatally)?
If the presence of SCID in the family’s history is known, and the type of SCID genetic mutation has been identified, prenatal testing can be performed. Sequencing DNA from the fetus can be tested in an at-risk pregnancy via chorionic villus sampling (CVS) by removing and testing cells from the placenta or by amniocentesis in which a sample of the fluid surrounding the baby is removed and tested. Even when the gene mutation is not known, the diagnosis can be made in the fetus by sampling a small amount of fetal blood at around 18-20 weeks of gestation.
How effective is early diagnosis?
The sooner a child is diagnosed, the sooner treatment can begin and the more likely it is to be effective. Recent research shows that bone marrow transplants in the first three months of life work better than transplants at a later age. It is critical to identify affected children immediately after birth in order to reduce their risk of exposure to life-threatening infection, and to improve the effectiveness of treatment.
Does late diagnosis affect a surviving SCID patient's quality of life?
If diagnosis is late, even after a successful bone marrow transplant, a patient may still have persistent health problems although this is not always the case and many children who are treated beyond 3 months of age do well. Most parents and physicians agree that ongoing health issues are not a result of the SCID itself, but because of the caused by organ and system damage caused by multiple serious infections before diagnosis.
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FAQs for WAS
How is bleeding managed?
The lower platelet count predisposes the patient to spontaneous bleeding and prolonged, severe bleeding with injuries. Care should be taken to prevent injuries as much as possible. A helmet is recommended for infants and children when they becoming are actively mobile. Contact sports should be avoided, and the activities of the individual patient are best determined by the physician and the parents. A medical alert bracelet indicating that the patient has low platelets is recommended, as this can help patients receive prompt and appropriate care.
Are there ways to improve platelet counts?
There are a few ways in which the platelet counts can be increased:
- Transfusions: A platelet transfusion can increase the platelet counts for several days. Platelet transfusion can be used to control moderate to severe bleeding. It is also used to control a bleed that is not/cannot be controlled by other methods. Platelet transfusion may be used prior to surgery to improve the counts and prevent excessive bleeding during the surgery and during the recovery period. In general, it is better to keep platelet transfusions to a minimum and use other means to control the bleeding if possible.
- High dose IVIG: Platelet counts may increase is some patients who are given high doses of IVIG. If there is significant improvement, IVIG is given every 3-4 weeks to keep the platelet counts up.
- Medications: Patients with WAS can develop ITP where their immune system destroys their own platelets. Medications that are used for these patients include steroids such as prednisone, high dose IVIG and rituximab. These help control the autoimmunity and increase the platelet counts.
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FAQs for CGD
Can patients with CGD have children?
Women with CGD can become pregnant and have babies without adverse effects to their health. Some of the drugs used to treat the infections common in patients with CGD can be passed from a pregnant woman to her baby, and may cause birth defects or miscarriage. However, there are alternatives that are safe to use in pregnancy. Women with CGD should discuss plans for alternative medication with her doctor prior to becoming pregnant.
How likely are patients with CGD to have children with CGD?
Both men and women can pass the condition on to their children. The chance of a child of a CGD parent developing CGD varies considerably with the type of CGD involved (X linked or autorecessive), and may be dependent upon whether the a parent has any genetic links with CGD.
Do carriers of CGD experience any medical problems?
Mothers of males with CGD may be carriers of the X-linked form of CGD. Carrier status can be determined by a blood test. Often carrier mothers are healthy, although in some cases they may be prone to recurrent mouth ulcers or skin infections.
What types of infections are common in CGD?
- Frequent and difficult-to-clear skin infections, such as abscesses, chronic nasal infection, boils, eczema, and impetigo
- Joint infections
- Pneumonia
How often do these infections occur?
These infections occur often, and may be difficult to heal.
How does CGD affect a person’s quality of life?
Many people with CGD can carry on normal daily activities. Patients and their families should expect,
and be prepared for, frequent and sometimes long stays in the hospital that may interfere with school or work.
Can CGD affect the growth and development of children?
Some children with CGD may grow and develop more slowly than peers. There is, also, the possibility that children who have received prolonged courses of steroids or who have been very ill for a long time, may not reach the their full height when they get older. Consulting an endocrinologist (doctor who specializes in growth and the way hormones work) may be appropriate.
What about the emotional strain that CGD places on patients and their families?
Frequent episodes of being ill, serious infections, and prolonged hospital admissions may be stressful for patients and their families. Patients with CGD and their families may benefit from working with a social worker or a clinical psychologist for support.
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