Printable And The Question Is

A place where answers to your questions are sought from appropriate sources (i.e. physicians, researchers, respiratory therapists, etc). Write to the editor (editor@cfww.org) with your questions and queries and we will attempt to answer them for you.

I wonder if you have any material on diseases of the pancreas that people with CF may suffer. I am having a CAT scan tomorrow since I have had very intense pain that may be from the pancreas. I want to know what can be done from the most sublime to the most critical of situations regarding the pancreas. I have even heard that pancreas transplants are now being done in the USA.

I am sorry to hear about your abdominal pain and likely pancreatitis. That is a condition which for some reason seems to be very common in the general population in South Africa, so at least you can be sure that your doctors should have had plenty of experience with it.

Pancreatitis occurs often in the foetus with CF, and that is why the majority of newborn CF infants already have poor pancreatic function by the time they are born, although that varies with the particular mutations they have. It is usually a slow, chronic process, and can be quite painless.

Acute flare-up of pancreatitis can occur at any time, but most often in adults, and surprisingly it seems to occur occasionally in people who were thought to have no pancreatic function left.

The pain and damage are caused by pancreatic enzymes becoming activated within the pancreas itself, rather than in the duodenum where they should be activated. This causes further damage to the pancreas, usually quite localised (but notoriously painful).

Treatment is usually with a mixture of antioxidants (such as vitamin E) and painkillers, and often a higher than usual enzyme dose to ‘switch off’ any secretion of enzymes by the person's own pancreas. However, if the episodes are frequent and severe, occasionally surgeons are involved but mostly only up to the point of establishing the true diagnosis.

Pancreas transplants have all sorts of problems, and are still experimental - mainly in diabetics - and I would not suggest that you waste your time trying to get one done, either in South Africa or America. Even when the entire pancreas has been removed (for example in people with cancer of the pancreas) it is much simpler to treat with replacement enzymes, as in CF, and insulin, as in diabetes. Many CF adults and some children have diabetes as a complication of their CF, so CF specialist dieticians are well used to managing both together.

I hope these comments are the sort of information you were looking for, and again I am sorry that you are going through this difficult time.

I was wondering if there is any connection between being a CF carrier and problems with the immune system? My father is a carrier and his second wife was also, and my half brother was born with the disease.

The reason why I am asking is my son whom is 12 was recently diagnosed with Autoimmune hepatitis, and mild ulcerative colitis. I was just wondering if the fact that I am a carrier of CF would have anything to do with his immune system being faulty. Your help or insight would be greatly appreciated.

Veronica Pollitt

1) There is no reported association between CF and the carrier state and Ulcerative Colitis(UC), and it is unlikely. However:
(2) There is a rare complication of UC called Sclerosing Cholangitis (SC) and this does seem to be more likely to occur in those people with UC who are also carriers of a CF mutation.
I suggest that your son’s gastroenterologist should consider whether the diagnosis of autoimmune hepatitis is definite, or the possibility that SC is the cause.
The precise diagnosis of liver diseases is often difficult and may depend on biopsy information, and even then may not be clear-cut. I therefore suggest that his physician be informed that he is (or may be?) a CF carrier and therefore be at a slightly increased risk of sclerosing cholangitis as a complication of the ulcerative colitis.

How much does it cost for a couple who already have a CF child to receive the treatment necessary to conceive a further child with no CF? I would like this treatment to be carried out in Europe, the United States or Canada.

Professors Bob Williamson (pictured left) and Dieter Gruenert (lower left), Editorial Genetics advisors to CFW reply:

The question of prenatal diagnosis between countries is complex, since it depends upon what is acceptable to the couple, as well as cost. It also may take several trips.

We are not sure how much information you have on the procedures used for this type of testing, so will include a brief description for you here:

Most couples conceive in the usual way, and then have a test at ten weeks of pregnancy. This involves taking a small sample from the developing placenta ("CVS"). The sample, which is of foetal cells, is tested to see if the foetus will develop into an affected child or an unaffected child. If the foetus is affected, the parents can decide to have a termination.

However, these days many couples are using "pre-implantation diagnosis". In this procedure, the mother and father have IVF and form about 10-20 embryos in the test tube, each of which develops to the eight cell stage. One cell is taken from each embryo, and DNA analysis shows which will be unaffected. One or two of the unaffected embryos are then placed in the mother's womb, and if pregnancy is successful the child will be unaffected. However, the procedure is not simple. Although it avoids a termination of pregnancy, it does not work well for all couples.

There are several centres in Europe who administer CF testing. Since I do not know which CF mutation you have been tested for and which one was found, it is more difficult to give an accurate answer. However the cost for a test covering the 20 most common European mutations is approximately 340 Euros (approximately 240 Dinar). But these may not be the mutation you are interested in.
If you have access to the Internet, there is a European web site where you can make contact with the staff at various laboratories: http://www.eddnal.com/

In Australia this treatment is free to Australian citizens, but is charged at full cost to people from overseas (approximately US$10,000 / 7,000 Dinar). Overseas applicants are not encouraged because the service is already busy. However, if you wish to follow this up, we can provide you with the names of 2 excellent IVF Units in Australia (recommended by an advisor) that carry out embryo analysis for CF after IVF. However, you will still need a local doctor in Jordan who will refer you and follow through afterwards.

Another option is to write to the IVF Clinic in Cyprus (much closer to Jordan than other countries you may be investigating). This clinic mainly focuses on another medical condition, but they are very good at taking single cells from 8 cell embryos and carrying out DNA analysis.

USA: Diagnosis is not exclusive to US residents and can be administered for a fee (usually approximately US$10,000 / 7,000 Dinar). This can be carried out by private firms, e.g. Genzyme:
http://www.genzymegenetics.com/genetics/patientinfo/
english/cystic.htm#prenatal. This company also has its own on-line genetics test directory:
http://www.genzymegenetics.com/genetics/clinicalinfo/
prenatal/pdf/directory.pdf

Alternatively, public hospitals offer this service, e.g. The Mayo Clinic: http://www.mayoclinic.org/infertility-rst/genetics.html and http://www.mayoclinic.org/infertility-rst/pgd.html

Middle East: http://www.lebanesedoctors.com/Pages/
FertilityCenters/FertilityCentersLebanon.html

Editor’s Note: For readers that do not have access to the Internet, please contact me if you wish to be sent a print out of this on-line information: editor@cfww.org or at my snail-mail address.