Thank you for sharing your thoughts.

Yes, we continue to live with hope.

Now, if we can push Susanne over the finish line in first place, the KDA will have another $5,000 for research.

My son is almost a year old now. I am wondering if anyone knows if I should be taking him to any doctor familiar with the disease? I know that there's little to be done, but I'm unsure what the proper steps are that I should be taking to ensure the best care for him as he gets older.

Great looking boy! If there is a benefit in having KD it is that onset will not begin until adulthood. It could even be late onset ... 40s, 50s or 60s.

A genetics counselor can be helpful in answering your questions. Please, if you really feel the need to know, first discuss timing and needs with the counselor first.

For what it is worth, I believe you should wait. What difference will knowing have in how you raise your child? Testosterone is the enemy and it will be many years before that kicks into high gear. Once it has started flowing, it still will not make a difference unless ... again, unless ... there is a treatment or cure.

Allow me to share a personal story. My son at the age of two was diagnosed with a malignant brain tumor. He had surgery to remove as much of the tumor as possible without causing further damage. He then had 33 massive cobalt treatments. As parents, we were crushed and all we could see was a child that had a huge horseshoe shaped incision on the side of his head and stitches that looked like Frankenstein's monster. Don't get me wrong, he was beautiful to us, but he had been through so much and we were so concerned that they did not get all the tumor.

When we visited the surgeon for a post-op follow-up (and by the way, we were fortunate to have one of the top ten brain surgeons at the time), I asked how we should treat our son. Should we put a football helmet on him in case he fell and hit his head? What happens if he raises up from the floor and smacks his head against the coffee table? We had a bunch of concerns (as most any parent would).

The surgeon smiled and said, "You will do your child a terrible injustice if you do not let him be a kid. He needs to run, fall, run some more, play, get hurt, and do all the other things a kid his age would do. Just let him be a kid!"

Our son was pronounced cancer free five years later. He is now 41. Some of the best memories were the times we let him be a kid.

I hope this helps. And most important, if you (as a parent) have concerns, see a genetic counselor.

Again, you have a beautiful boy.

Wow Bruce, I had no idea. I'm happy to read of a great outcome. I'm with you with your answer, the child won't be affected for years to come.

I suggest the parents contact MDA for their own support and possibly a baseline type exam for the child? I think he needs to somehow know he may eventually run into problems as an adult but in a positive, reassuring way so as not to feel different than his buddies. At this point, he is no different. If I had a child with KD, I know I would feel as she does but you need to let him be the child he is. Would my husband have benefited from knowing? I doubt it. Remember, YOU did not pass this on to him on purpose!
Hopefully, by the time he is an adult, there will be a cure or some kind of medicine that will keep symptoms at bay. Keep him happy and healthy and let him do and be whatever he wants in his life.

I don't think it is a good idea to get a diagnoses for KD on your son's medical record. You can't even get a genetic test on your insurance without it being in the record. It may be possible to get a blond test done but then you will always have to truthfully answer any medical questions.

As it is (may be) now there is only a possibility that your son has KD. That is no t a basis for medical discrimination.

Do not think the talk of acceptance of pre-exisitng conditions will help. First is totally impractical as far as insurance goes. Until the health care system has been fully socialized (we are most of the way there and unless repeal it will happen) there will be insurance bias against pre-existing conditions.

Even after socialized medicine has arrived there will be bias, maybe worse than rate bias. The 'death panels' are real. Sara's point has been distorted but the death panels are part of the recent reforms. Rationing will be made based on the expected quality of life of the patient. If you have a degenerative disease you will drop several points on any scale used to decide if you get treatment/support.

Good point!

Hi Sesara, if I remember correctly, your son tested positive for Kennedy's disease in utero. I can only imagine the stress and anxiety that causes you as a mother, especially after seeing what your own father and uncle went through.

I am the father of eight children, but only two are my biological children and one of those is a daughter, 20 years old. I know the anxiety I feel for her and her future children.

If in the future, my daughter, is blessed with a handsome, happy, son, (that has KD) as you have been, this is the advice I would give her.

Talk to genetic counselor. Make sure his pediatrician knows that he has the disease and becomes familiar with it (the disease starts at puberty when his body begins producing testosterone, regardless of when symptoms actually begin).

Then, not only let him be a kid. But let yourself enjoy every moment of his childhood.

Remember that the best thing he can do during his childhood is play! Running, jumping, climbing, riding bikes, swimming, etc. all build muscle.

As he enters his teen years, encourage him to be active, play sports, etc. Encourage a healthy lifestyle!

He has a wonderful, happy, full life ahead of him. I have KD, I did not know it as a child, a teen, or young adult, but it was there. And I have been blessed with an incredible opportunities. I camped, fished, canoed, explored caves. I was a missionary for my church. I went to college. I married. Had children. Adopted children. Even at 30 when I started getting weak, I didn't slow down. At 40 when I was diagnosed with KD, I struggled. But, at 43, I have learned that I am not dying and my life is not over. It has simply changed.

Pray, prepare and enjoy! That is the advice I would give to any person, mother, son, husband, wife or child, who is dealing with KD.

Also, never give up hope, everyday is one day closer to a treatment!

My prayers and thoughts are with you.

Thanks for all your kind words. Yes, Jim, I had an amnio diagnosis of Kennedy's for my son, since I was already a known carrier. Due to the nature of Kennedy's, I know that there is really nothing that he can be "treated" for at present, and that the best thing I can do is to encourage his physical development. And believe me, he does move! He's been walking since 9 months, and he is all over the place and into everything as a toddler should be.

I just wanted to see your opinions on whether it would be helpful to be taking him to a doctor familiar with the disease to be evaluated for anything. It appears the general consensus is no. I am fine with that, I just don't want to miss anything that I could be doing to be proactive.

His pediatrician is aware of the diagnosis and is supportive, moreso since she has genetic disease in her own family. I suppose that for the time being, I will simply consult with her and keep apprised of all future developments in treatment. Thanks so much, once again, for your support. This community is an amazing bunch.

Sesara, it is tough being a parent. I have always said that "knowledge is power." With better knowledge, you can make better decisions.

One of the most difficult things I have had to live with is knowing that I passed my defective gene on to my daughter and possibly my two grandchildren. I know it was not my fault. but being a parent you never want to do anything to hurt or handicap your child.

This is also why I am so involved in the KDA. I want to do everything possible to help spread the word and support research that will find that treatment or cure. Our children and grandchildren should not be burdened with this condition in their adult life.

Hope and pray that a treatment is discovered within the next ten-to-twenty years. I know we are getting closer and every year brings new hope that our children and grandchildren will have later onset and less severe symptoms. Also, watch closely for any research updates on IGF-1 for muscles. This research continues to show that IGF-1 could be the one that is most effective pre-onset. I heard a research update will be published in the next month or so.

And, Jim, thanks for your wonderful words. You've got a gift.