Hello all,

By brother has been diagnosed with Progressive Bulbar Atrophy. He has not had DNA testing to verify if it is KD yet.

Is testing available for carriers? As his sister, I understand that I would have a 50% chance of inheriting the gene from our mother in the event he tests positive. I understand that I would not likely be symptomatic.

He has two sons who would NOT be affected. If I am a carrier, I would have a 50% chance of passing the gene on to my two daughters. One of my daughters has three sons who COULD have received the gene.

Could all the possible carriers and possible affected boys be tested?

This message has been edited. Last edited by: Peg Estey,

Yes, you can be tested. It is my understanding that your family members can also be tested at this time. It is the same DNA test. All of your comments are correct about percentages.

I would recommend that you discuss the options with your doctor and also potentially with a genetic counselor. It is often helpful to have a professional involved.

I might also recommend that you and your brother consider joining the KDA. There are several benefits available to associates. There is no cost to join. If interested, use the following link: http://www.kennedysdisease.org/join.html

As my brother's doctor did not suggest DNA testing for Kennedy's Disease and therefore is likely not aware of it, should I simply supply the names and addresses of the labs which do the testing and have that doctor draw the blood sample?

Since each test is likely $400 to $500 and not covered by our separate insurance policies, does it make sence to have him tested first to rule out the possibility of the X linked gene, then if positive test me (his sister) and if positive, then my daughters, and if positive, their sons?

Might there be a way to reduce the cost? Neither my brother nor I are on Medicare.

Testing for genetic disorders (not just KD) has downsides as well as upsides. Even requesting such a test may impact one's ability to obtain reasonably priced non-group insurance, a positive diagnoses certainly would (I would guess even a carrier would run into problems).

Testing a young person, given the current non-availability of treatment, has little upside that I can see. A positive diagnoses would be a life changing experience. I’m not sure I would have wanted to know at a young age the KD would begin to intrude on my life at age 50.

Testing further up the family tree may have something going for it. For example my sister has a daughter with a daughter. She could be tested to eliminate all of them. A good question is what to do next if she is positive. Hard choices.

In some cases just not knowing is a viable option.

Some people just have to know – my brother, six years older w/o KD symptoms, got a test. A total waste of money given the X-linked nature of KD but he just had to know.

I would hope a good genetic counselor would explore some of these topics.

A few follow-up thoughts.

1. My insurance carrier covered the cost of DNA testing (I was tests twice). My neurologist ordered the testing the first time and this normally qualifies it for coverage (my coverage was 85%). My GP ordered it the second time to validate the original test (one year later). You might want to check with your brother's insurance provider on this to make certain that they will not cover it.

2. If you doctor cannot locate in his manual the names of testing labs, you can print the list on the web site and give it to him. My GP had access to a manual that listed Spinal Bulbar Muscular Atrophy (aka Kennedy's Disease) and provided him with the necessary information (how much blood was needed, where to send it, etc.).

3. I agree with Bob's comment about the need. In my opinioon, unless you are going to change something once the results are known, there is probably not a need to test the children at this time. If a treatment or cure is discovered in the future, at that time it might be beneficial to have the children tested. Until then, there is nothing much anyone can do since onset doesn't begin until the late twenties or early thirties. If you do need to know and proceed with the DNA testing of family members, I would again highly recommend genetic counseling first.
Bruce

Thank you both for your advice concerning testing. I certainly agree that there are downsides to testing the kids if the test is positive for KD and therefore hereditary. When I told my daughters that their uncle was diagnosed with Progressive Bulbar Atrophy, I told them, casually, that his condition was NOT hereditary so they would not worry before I researched the issue completely. This is no small matter.

If he is tested in order to be included in possible clinical trials, and proves positive, then it would certainly make sense for me to be tested in order to rule me out as a carrier. If I were to test positive, that does not mean I would have to, under all circumstances, pass that information on to my daughters. A negative outcome, however, would be passed on with great relief.

If my daughter who is not married and has not yet had children wanted to make use of in vitro fertilization and testing, some time in the future, it could be useful knowledge. Then again it could cause her distress. It is a lot to consider.

Peg

In my case, a DNA test was included with additional blood tests ordered by neurologist at the Mayo Clinic. Since the DNA blood test was "bundled", it did not stand out. BC/BS covered 80%. I was examined by four neurologists, over a ten year period before a DNA test was considered, and ordered. It was considered a "long shot". A DNA blood test can save the patient several painful tests which include nerve conduction (involves pins, & electrical shock), and muscle biopsy. It is much better to be aware that you have KD, than to wonder for years why you are having mild, but progressive weakness. As a carrier of KD, it would not be fair to pass this disease to your children without the benefit of genetic consuling. My Mayo doctor is in the process of publishing a book to aide physcians in diagnosing KD, earlier in the examination process.

Bob, the book is good information. When your doctor publishes the book, please let us know so we can acquire a copy and also notify our Associates and neurologists.

Bruce

Here is an interesting post from someone 43 diagnosed with KD who is concerned about the impact of KD on the his intense cardio workouts:

post

Something to consider in the mix of things about who and when to test and what to do about it.

My Husband was diagnosed with KD in October 2005, following symptons that first showed 6 years earlier. Following painfull electrode testing and stays in Hospital, he was told he had Terminal Motor Neurone Disease, as you can imagine he and the rest of the family were totally devastated. Then a month later the diagnosis was changed to KD. Unfortunately our Daughter has now been told that she is a carrier following DNA testing. The Doctor has told her that she has a 50% chance of passing it to any Son's she may have and a 100% chance of passing it to her Daughters. Is this right.
She is now in the impossible situation of having to decide wether to have children at all. She is only 21, so has plenty of time to decide, but it dosnt take away the misery of knowing she could be responsible for passing on this diesease.

I think I know how you feel. My family and I went thru a similar situation once I was diagnosed with KD during the mid 90's. We were extremely fortunate in that our daughter understood the situation and ensured us that she knew it was not anybody's fault.

She is in a serious ongoing situation and the person she is with (and hopefully marries to) also understands what is going on.

On the bright side, although our daughter's female offsprings would be carriers, they would not be affected by KD. I'm very optimistic in our current research and I'm sure a cure will be found soon. In addition, there are genetic options which would allow the fertilization of only the non-affected chromosone and an eventual healthy KD free male.

I am by no means an expert on the subject, but that is my understanding.

As we understand it your daughter would have a 50/50 chance to any and all children regardless of sex.
Unless she happens to have two affected X's - one from her mother and one from her father - which would be highly unlikely.

If her father has KD, then she gets the affected KD X from her father and
an unaffected KD X from her mother.

50/50 chance to pass either of the X's (affected or unaffected) to each
child each time.

She should check with a genetics doctor to be sure.