Hi Everyone! I passed the test...and I didn't even study! (Tee-Hee!) I have the gene and have had a good portion of the symptoms. It started with my voice suddenly squeaking/cutting out after suffering through a terrible trauma.(Has progressed to swallowing problems and muscle spasms in my throat). Seems this is where stress lands. This was about 22 years ago and I didn't know that this (KD) was in my family and doctors could never seem to find the answers. I even asked one doctor if I might have MS as my nerves seemed to be short circuiting! Many more symptoms throughout the years. Degenerating discs in back, bad knees, etc. If I was a horse they would have put me down by now! Are there any other females suffering with this? I would like to talk to someone. Please respond to this if you can. Also, I have 4 other sisters that have not been tested, and 5 older brothers that probably won't get this. I personally have 2 girls and 2 boys that I will test in the future as I see the need. Because of insurance reasons I will not test until necessary. Thanks for listening.

Hi Lori Welcome to the club 8-). Women can be carriers of the disease, but generally express few symptoms - since the syndrome seems to require a decade or two of testosterone exposure to produce the symptoms. However, I have heard of females with cramping and other symptoms. How did you finally arrive at the correct diagnosis?

Note that having the KD genetic disorder does not make you immune to everything else.

At 21 my voice went crazy. The Doc's said that it was a rare form of dystonia but could not find a reason for it starting. It has gotten a lot worse over the years with a more pronounced swallowing problem with muscle spasms in my throat and soft palate. I have muscle weakness/spasms. twitching in my legs that will not go away, but lessens in severity(depends upon the day). I have had tremors in my hands. KD runs in my family and when I heard of it the Doc. had me tested and I was definately positive. I know that I could have something else but the signs and symptoms seem to follow many of the things that I am going through. I have a host of other things going wrong at this time so I am very aware of KD being just one of the things wrong with me. Testing positive at least gives me some answers as to what may be going wrong and how to proceed with physical therapy, eating right and exercising. For many years I watched my dad go through weird stuff. Tremors, spasms,numbness,gynecomastia, etc. We never knew that this even existed. He had most of the signs and symptoms. Anyway, the Doc's seem to believe that we are on the right track but keep an open mind. How about you Cam? Do you have any of this?

Sorry Cam...just read a little of your background. It is such a "trip" to read about the throat spasms. I thought I was the only one having these! It hurts abunch. I try to relax naturally or with meds. You all probably know how nice it is to read about everyone and know that I am no longer alone. My dad had problems with his legs, if he fell he could not get up. I bought him a chair with an automatic lift. He did much better with that.

My dad during the last years of his life had trouble breathing a lot! He had other problems diagnosed but I believe this disease came into play. It wouldn't hurt to tell the Dr. about KD. I'm sorry that this is happening to her.
Lori

Lori,

My mother has/had symptoms much like yours. We long believed they were related to Kennedy's even when the literature classified the disease as X-recessive which ought to mean females are only carriers.

In the past few years however, research indicates that testosterone plays a significant role in the pathology. Women have testosterone but typically at much lower levels then men and it is likely a significant factor in why women are less profoundly affected.

My mother also had complicating factors of multiple spinal traumas. My own experience has been that my nerves are much more susceptible to impairment through physical injury and are extremely slow to heal.

I think the combination of mildly elevated testosterone levels and physical injury lead to my mom's severe symptoms. Unfortunately for her she dealt with the pain of cramping by turning to increasingly strong pain killers. She ended up getting hooked on narcotics (codeine, vicodin, etc.) and had physicians who obliged her with increasingly high dosages. A couple years ago she had a nasty fall which we believe was due to the combination of disability from the disease and being excessively doped up.

The result was a concussion that has caused a loss of any ability to store new short term memories. Her long term memory is intact and memory of the immediate moment is fine so she can appear normal in conversation, but talk to her an hour later and she will have zero recollection of the previous conversation.

Without any head trauma I am also experiencing mild short term memory impairment and wonder if Kennedy's perhaps in combination with some other factor plays a role in this?

Interestingly, my sister developed PCOS (poly cycstic ovary symptom) and was also diagnosed with elevated levels of sex hormones including testosterone. She took medication for a while but eventually found that through moderate exercise and changing her diet to reduce intake of refined sugars and meat and increasing vegetables, whole grains and fruits her PCOS symptoms abated, her hormones are now in normal range and balance and she has gotten off the medication.

Anyway, I hope you continue to participate actively with the KDA. I believe understanding the range of expression of the disease in females is a key element in developing a deeper understanding of this disease. Unfortunately almost all of the attention has been given to us males with the disease. It's time to pay more attention to the other half of the population with this disease.

Todd Allen

I am finally back on and appreciate the stories of others, as well. My nephew will get his blood tested soon. He is having muscle spasms where they will not release...like knots in his skin. He also has A rare Wolfes-Parkinsons disease (forgive if I did not spell right). His mom, my sister has shown signs of the voice horseness, diabetes, pain, etc. Hopefully she will be tested soon and will find some answers as well. I am doing okay. Hope all is well with KD folks.

I posted my question in another area before I found this discussion about woman and KD. Does anyone know of any research or any confirmed diagnosis that woman actually have KD symptoms?
I am a positive carrier and in recent years have had some very severe muscle cramping. I am entering the menapausal years and was wondering if that may trigger symtoms? It would be nice to have some research evidence to present to my doc. about my theory that I may have KD symtoms.

Jane, let me check with a couple of members of the Scientific Review Board on this. I know that my mother had symptoms and several other ladies have mentioned symptoms, so there has to be something out there on it.

I probably have around 3 carriers in my family that are in their late 40s or older and they've all mentioned some discomfort that sounds indicative of KD. I haven't heard of any weakness just cramping. I'd consider them all to be active so it's probably a little more than just getting older. Granted that's just more anecdotal evidence, but I have a pretty large family riddled with KD so I feel pretty knowledgeable.

Hi!

I find this discussion about women and KD very interesting. My grandfather was diagnosed with KD basically on his deathbed a few years ago. KD was completely new to everyone in my family and we had never heard about KD before. I don´t know if I am a carrier, but I'm wondering if anyone has hear about infertility problems amongst women that are KD carriers. My husband and I have been trying to get pregnant for many years without result. The doctors can't find anything wrong with us and at first I didn't think about KD being a factor in all this. But I recently found out that my cousin and her husband are going through the exact same thing that we are, and then I started wondering. Are we bouth just extremely unlucky when it comes to fertility or can KD be a factor?
Does anybody know?

Hi Anna. I find it quite interesting that you mention this about infertility. I didn't have any problems myself but my one daughter who inherited this gene has been plagued with problems. She is able to conceive but can never sustain the pregnancy beyond 12 weeks. They have not found any reason for this in her case and she has seen several specialists.

Hi JaneB!
I'm sorry to hear about your daughter and her problems with her pregnancys. Maybe this is all just a coincidence, who knows. But it is frustrating not knowing! I'm going to try and look into it, starting by finding out if I have inherited this gene or not. I wish your daughter all the best and I hope everything works out for her.