Frequently Asked Questions

Q: Why does my child have SCN?

A:Nobody knows how and why SCN develops. It is thought to be a disease that is genetically inherited. It patients with congenital neutropenia (Kostmann syndrome), it is thought to be inherited as an augosomal recessive disorder. This means that the affected patient’s parents were carriers of the gene responsible for the disorder, and both passed that gone to their child. The only way your child can pass the disorder on to his/her children is if he/she married somebody else with a carrier gene.

Cyclical neutropenia is inherited as an autosomal dominant disorder. This is where one parent actually suffered to some extent from the condition himself or herself due to a gene that was "dominant" over its partner gene. With cyclical neutropenia, there is a possibility that your child will pass the disorder onto his/her family.

However, in all subtypes of inherited neutropenia exceptions to the above mentioned pathway are possible. E.G. that in some cases the disease can occur for the first time in a family without having a parent carrying the gene.

"Understanding Severe Chronic Neutropenia", Audrey Anna Bolyard, R.N., B.S., Tammy Cottle, Carole Edwards, R.G.N/R.S.C.N., BSc., Sally Kinsey, M.D., Beate Schwinzer, Ph.D., Cornelia Zeidler, M.D.

Q: Will my child with chronic neutropenia develop normally, especially in their growth and development?

A: Children with chronic neutropenias develop in the usual way. However, children with congenital neutropenia tend to be smaller.

"Understanding Severe Chronic Neutropenia", Audrey Anna Bolyard, R.N., B.S., Tammy Cottle, Carole Edwards, R.G.N./R.S.C.N. Bsc., Salley Kinsey, M.D., Beate Schwinzer, Ph.D., Cornelia Zeidler, M.D.

Q: Is it safe to have surgery whilst on G-CSF?

A: Yes - It is OK to have surgery as long as the surgeon is made fully aware of your condition and G-CSF treatment. You should obtain medical clearance from your haematologist prior to elective surgery and receive advice regarding your G-CSF dosing and schedule.

"Understanding Severe Chronic Neutropenia", Audrey Anna Bolyard, R.N., B.S., Tammy Cottle, Carole Edwards, R.G.N./R.S.C.N., Bsc., Sally Kinsey, Beate Schwinzer, Ph.D., Cornelia Zeidler, M.D.

Q: What is blood made of?

A: For a thorough description, please read the article Blood Functions and Compositions by the Leukemia Society of America, 1994

Q: My son has been receiving G-CSF since he was diagnosed with Kostmann syndrome three months ago. While he is a lot better he still tends to get breakthrough mouth ulcers, which cause him a lot of discomfort. Is there anything we can do to help alleviate his suffering?

A: Children may benefit from good mouth care including flossing and regular dental checkups. Ensure that he has excellent oral hygiene, using mouthwashes such as chlorhexidine and difflam. It also may be useful to see your physician to discuss the dose of G-CSF; it may be that the dose needs modifying which could mean an increase.

"Understanding Severe Chronic Neutropenia" Audrey Ann Bolyard, R.N., B.S., Tammy Cottle, Carole Edwards, R.G.N./R.S.C.N., Bsc., Sally Kinsey, M.D., Beate Schwinzer, M.D., Cornelia Zeidler, M.D.

Q: Will a certain diet improve my disease?

A: A good balanced diet will be beneficial for your family's overall health, as it will provide essential nutrients and vitamins to ensure good health and promotion of normal growth and development. There are no known vitamins, herb supplements or special diets that help raise the neutrophil level.

"Understanding Severe Chronic Neutropenia" Audrey Ann Bolyard, R.N., B.S., Tammy Cottle, Carole Edwards, R.G.N./R.S.C.N., BSc., Sally Kinsey, M.D., Beate Schwinzer, Ph.D., Cornelia Zeidler, M.D.

Q: What are alternative and complementary therapies?

A: Please read the article Alternative & Complementary Therapies from "Treatment Information Program", British Columbia Persons with AIDS Society, November 1999

Q: Is cyclic Neutropenia rare for children under one year of age?

A: (Dr. Bonnie Cham)

This disorder can occur right from birth. A review article by Dr. Dale mentions that about 1/3 of well documented cases in the literature have clinical evidence prior to their first birthday. So, although this is a rare disorder, I would certainly consider it possible at less than one year of age.

Also see: Wright DG, Dale DC, Fauci AS, and Wolff S: Human Cyclic Neutropenia: Clinical review and long-term follow up of patients. Medicine vol 60: pp1-13, 1981.

Q: How should intermittent G-CSF be administered?

A: (Dr. Bonnie Cham)

Regarding intermittent G-CSF for cyclic Neutropenia. Most reports use either every other day throughout the cycle or 3 days/week (i.e. Mon., Wed., Fri.) However, there is a report from Sweden in the European Journal of Hematology by Danielsson regarding the use of G-CSF 3 - 4 days prior to the expected count nadir and stopping as the counts rise. When they started the G-CSF at the time of the nadir, no response was seen and the infectious symptoms were not reduced. If you are going to dose only with the nadir it’s probably important to start several days prior to the drop.

Q: What are clinical trials?

A: Please read the article Clinical Trials - What You Need to Know from Canadian AIDS Society and Canadian HIV Trials Network, Second Printing 1999

Q: Our child has been diagnosed with congenital Neutropenia. What is the risk in future pregnancies?

A: (Dr. Bonnie Cham)

Unfortunately, we do not have the ability yet to determine exactly where the genes are which result in congenital Neutropenia. In most cases, there is no genetic testing which can be done to predict whether future offspring will be affected. In the absence of a positive family history, however, the chances are fairly low that your next child will be affected. You should be sure however to discuss this with your doctor, as there may be information specific to your child's case which would be helpful in determining the risk.

Q: Have you heard of Neutropenia being misdiagnosed or somehow related to ITP?

A: (Dr. Bonnie Cham)

ITP refers to a disorder where platelets are destroyed by an antibody made by the patient which reacts against the platelets.

This antibody production often follows a viral infection as part of the immune response.

In children it is usually self-limited although treatment may be required to maintain the platelet count at a safe level until the body overcomes the antibody problem.

Neutropenia may also occur in children following a viral infection and is known as autoimmune Neutropenia. This disorder is also related to an antibody and is usually self-limited in young children (although may last for 6 - 24 months).

Usually symptomatic management is all that is necessary. However, in patients with significant infectious problems, G-CSF has also been used with some success.

Q: We are looking for information on hypogammaglobulinemia with Neutropenia. Also, if you have any information on the newly founded procedure of stem cells from umbilical cords, we would like to hear your input.

A: (Dr. Bonnie Cham)

The procedure being referred to is a stem cell transplant (similar to bone marrow transplant).

It is being done in certain centers an on experimental protocols, to be able to perform bone marrow transplants from unrelated donors for patients in whom a bone marrow transplant is indicated but no family donor is available.

The advantages of umbilical cord rather than the regular unrelated registry from adult volunteer donors relates to the observation that there is less graft versus host disease when the donor of the marrow is younger. Because of this, in some centers, these transplants are being performed when there is less similarity between the HLA types than normally required. Because of this, a donor may be easier to find (i.e. doesn't always need to be a perfect match.) (Again, this is generally still considered experimental).

Whether the patient is a candidate for transplant would certainly depend on the severity of infections. If he is severely neutropenic, and having very significant infections despite receiving regular gammaglobulin and Neutropenia therapy, he may well be a candidate.

In the US there is a cord blood bank run out of the New York Blood Center. In Canada, there is a new bank being set up in Edmonton by Dr. John Akabutu in conjunction with the Canadian Blood Services.

Q: What denotes congenital Kostmann?

A: (Dr. Mel Freedman & Dr. Bonnie Cham)

Cyclics are mostly "congenital" because they present in early life and can also have a clear-cut inheritance pattern....but we are still using the term "congenital" to denote non-cyclic patients that have Neutropenia onset from infancy. When 2 or more cases in the same family inheritance is implied, they are called Kostmann. Some doctors use Kostmann and congenital interchangeably but Kostmann only describes family cases, not sporadic ones.