[written by Cindy Munn, 11/1997]
My husband and 7 yr. old son share much in common. They both are mechanically inclined & enjoy working outside. They also share a common genetic disease called Hereditary Hemochromatosis [HH]. It is a condition of iron overload, in which their bodies lack the mechanism to quit absorbing iron when there is enough stored for bodily functions. Instead their bodies continue absorbing iron to the point of toxicity, which results in damage to many organs in their body. My husband was diagnosed 4 yrs. ago through a liver biopsy. He has irreversible, permanent damage from the iron overload that will remain with him for life. My son was diagnosed through genetic testing through Ohio State University in Columbus, & again at the University of Pa. Hemochromatosis Clinic, in Philadelphia, this past spring.
When my husband was diagnosed, we had been told that HH was so rare that we needn't worry about our children being more than carriers. This condition is autosomal recessive, meaning that it requires a child inheriting one gene from each parent, to acquire the disease. [There are exceptions to this rule being found also]
I was told that the chances of me being a carrier were so slim, that there was no need to test for it. Being a nurse & an overprotective mother, I'm not that easily convinced of something "medical" that applies to my family. On my insistance, our children had an iron profile ran, a few months after their father was diagnosed. Only my son's results were suspicious, as his iron & transferrin saturation levels were elevated. Even then, our dr. said, "We'll check it again in 3 or 4 yrs." Please note that we are still using this pediatrician & he has since learned more about HH! It was a typical case that I hear of every day now, where the doctors are just not up-to-date on the information that is now available for diagnosis & treatment of HH. They were taught in medical school that HH is a rare condition, that generally only affects men in their 50's & 60's.
It ended up that not only my husband & son were affected, but our 20 yr. old daughter has 2 genes. My 19 yr. old daughter, my 9 yr. old daughter, as well as myself, are all carriers. Out of our 6 family members, every single one is affected by HH! My mother is a carrier. My husband's parents & his only sister are all carriers. An entire family diagnosed after one person was found to have HH! We are still testing other extended family members, so there will be more found, that I am sure of.
Let me stress that it is never too young to do the genetic testing on any individual, especially on whom there is a positive HH gene diagnosed in the family. It can be done via blood sampling, or via a non-invasive cheekbrush sampling, that is simple to do & doesn't hurt! Both are accurate & can be obtained from:
Kimball Genetics
Denver, Colorado
Annette Taylor PhD.
Email
aktaylor@usa.net
Phone 1-800-320-1807
[in Denver: 303-320-1807]
[will test any age] Cost = $125.00
OR
Michigan
State University[MSU]
webpage: http://www.phd.msu.edu/hh/hh/html.
phdhh@pilot.msu.edu
Phone 1-877-TEST DNA [837-8362] or 517-353-2032 9:00 to 4:30 ET
M-F
[will NOT test children under 14 without a doctors order] Cost =
$130.00
OR
SmithKline Beecham Clinical Labs 1-800-788-9709
[they presently only do the blood sampling]
Each of these places test for the two identified mutations
associated with HH. Some labs are only testing for the most
common mutation, the 845A, so please be sure you get checked for
both mutations!
The advantage of diagnosing an individual as early as we have my son & daughter, is that we should be able to prevent them from ever reaching the point of iron toxicity at all! They will both be monitored with lab tests frequently & when they are beginning to reach predetermined levels of iron, ferritin and/or transferrin saturation, they will begin their treatment program, consisting of removing up to a pint of blood on a regular basis. I anticipate the need for that within the next 2 or 3 yrs. with my son, since his levels are already borderline.
It is so wonderful to know that my son will not have to suffer the iron overload problems that his father deals with, due to the fact that he was identified so early with HH. Yes, it is still a burdensome disease, the thought of getting "bled" is terrifying to my son. And it is scary at times to think of what MIGHT have happened, if we had not found out about this until years later. I have talked with family members who have lost children in their 20's from HH. I have talked with a mother who's child is only 15 years old & already has liver damage, to the point that he is being considered for a liver transplant. One has to wonder, what if these children had been diagnosed early??? Could they & their families have been spared this suffering?
There is not enough research available to predict the course of iron overload in a person with HH. It seems to be very individualized, where some live past 50 yrs. of age, before complications set in from iron overload. Others are severely damaged by 30 or 40, some even die prior to 40 from complications. Some are affected by the time they are teenagers. Therefore, I urge ALL family members to be tested, as soon as someone in the family is diagnosed with HH! Don't delay. It could save an entire family from suffering from the consequences of this very fatal, but treatable disease.
Sandra Thomas, President/Founder of The American Hemochromatosis Society, has been instrumental in providing us with information on HH. She hosts a website from which one can access much valuable information from, on iron overload. She also is responsible for a screening project for children with HH, entitled "Children HHelping Children" National Screening Project. If there is any parents and/or physicians out there who have children with HH, please contact Sandra so that we can all join together in identifying this in children BEFORE they have to suffer the consequences of iron toxicity.
Sandra can be reached through the following
methods:
Sandra Thomas, President/Founder
American Hemochromatosis
Society[AHS]
www.americanhs.org
777 East Atlantic Ave. Suite Z-363
Delray Beach, Florida 33483-5352
Toll free at 1-888-655-IRON
Phone 561-266-9037
Fax 561-278-0171
ahs@emi.net
Together, we can make a difference in the early diagnosis, treatment & education of persons, with Hereditary Hemochromatosis, starting with the children. Please help us identify the children who may be overloading iron, even now!
Cindy Munn 11/1997
cindy.munn@americanhs.org
update & overview for Robby, as of 5/1999:
Robby is now 9 yrs. old. In 2/1998, we started phlebs. on Robby, at a rate of one per month X 3 months, then every 2 months. These were only of 60-100 ml. until Dec. 98, at which time we started monthly phlebs. of 200 ml. Prior to starting the monthly, 200 ml phlebs., there seemed to be only minimal change in his levels. His hgb. rebounded quickly, his ferritin was a gradual decrease. After the 3 monthly phlebs. of 200 ml., for a total of 8 phlebs., his ferritin is finally down to 8, but his hgb. still rebounds easily. It seems to me that Robby must still have plenty of iron stored somewhere, for the hgb. to still be rebounding & for the MCV & TS% to still be up, so we will continue to check him monthly.
Since little is known about treatment of HH in children, we
are hoping that children like Robby will be able to help to
establish guidelines for future treatment, as more criteria
becomes available. For more info. on other families with children
in treatment for HH, please feel free to contact myself or Sandra
Thomas. If anyone knows of a child with HH, or a doctor that is
treating a child with HH, please contact us!
May God Bless Dr. Greg Hudson for
his help! And also Dr. Inoshita & Janet
Bevins at the Portsmouth Cancer Care
Center for their help in making this a positive
experience for Robby.
Picture of Robby, June1999, with his nurse, Janet!
Click here for an update on Robby as of Dec. 30, 2001
