I got the call from the genetic counsellor yesterday. My amnio result was back. The test was positive for Kennedy's disease.

My father was diagnosed in 1989. They told us it was SMA Type IV. I was 10. I spent the next 15 years watching him progressively decline. He couldn't go up stairs. If he fell down, the fire department had to be called to get him back up. One night, he told me that he felt worthless. He developed aspiration pneumonia on July 23, 2004. He went into cardiac arrest. They restarted his heart. He went into a "persistent vegetative state" and never woke up. He died on August 19, 2004. He was 54.

My uncle also has the disease. In 2007, he was re-diagnosed with Kennedy's. I got tested, knowing I would be a carrier. I wasn't planning on getting pregnant. After all, we'd tried for several years and had no success, so I didn't think we could. 1 in 4. Those were the chances I knew I was taking when I decided to keep my "surprise baby" last December.

You tell yourself that 25% is a small number. Until it turns into 100%. I have so many stupid thoughts going through my head. I blame myself - I could have stopped this if I hadn't been so selfish. And yet I'm terrified that everyone else will blame me. My husband doesn't blame me - he's been great. My mom tries to convince me that my dad had a good life. I know that scientific advances have made great strides, that they could develop a treatment, that there are things that could make my son's life much easier than my father's. I know that there are far worse diseases that he could have. I know that other people with more disabling diseases have made great contributions - look at Stephen Hawking, I tell myself.

But I keep coming back to the fear that he's going to hate me for giving him this disease. I wonder how I'm going to tell him. And when. And selfishly, I don't know how I can be strong enough to watch someone else I love suffer with this disease.

WOW! You poured your heart into this message. Thank you for taking the time to share your thoughts and concerns.

My son was diagnosed with a malignant brain tumor when he was two. It was so large that it had grown down his first three vertebra. He had brain surgery and thirty-three massive cobalt treatments (one each day for over a month).

While having a post-surgery checkup, I asked the surgeon how we could protect our boy and how we should treat him during his recovery period (the large horseshoe shaped cut through his skull frightened us because of the falls and bumps children always have at that age). The surgeon gave us the best advice. He said that if we do not treat Tony like any other child, we would be doing him a great disservice. Seven years later, our son received a clean bill of health. He was cancer free!

Reference your forthcoming child:

First off, your son will not hate you. I do not hate my mother. I never even blamed my mother. She did not know that I would be born with the DNA defect. You had no idea you would become pregnant, or have a son. Even if you did, the odds are still quite good that his life will be a good one and one that is filled with the love of his parents.

Read my blog "Living with Kennedy's Disease." I wrote about Guilt and also about IGF-1 and the potential opportunity that it brings for pre-symptom people.

Researchers are closing in on a treatment for Kennedy's Disease. You have to believe that something is going to happen in the next ten years or so that could dramatically change the course of this disease. Your son has at least thirty years and perhaps fifty or sixty before showing symptoms and should live a normal life with the aid of modern medicine and health aids.

During that time, you will be so thankful that you blessed this world with a son. And, more importantly, he will be even more thankful that he has a loving mother.

Live each day to the fullest and never let your guilt show. And, most importantly, let your son live his life to the fullest, treat him like any other boy, and always let him know he is loved.

I agree with Bruce. Your son will not hate you. I love my mother with all that I am. I give thanks for her and her love and support not only in my dealing with SBMA, but throughout my life. I give thanks to God, that she is my mother and I am sure that your son will give thanks for you also.

I am also sure that your mother is right. I am sure that inspite of the many of challenges of SBMA, your dad had a good life. He lost some abilities, but he did not lose what was most important to him, you and your mom and the rest of your family. I know that with all that I have lost physically and all the adaptions that I and my family make, I thankful that I still have my wife and my children and my faith. I have an incredible life that SBMA cannot take away.

As far as telling your son and when, can I suggest that you just make it part of his life? Let me give you an example. My youngest daughter has Turner Syndrome. She is shorter than most other 6 year olds, she will likely not develop a feminine figure when she reaches puberty, and she will not be able to have children. For her height, she gets a daily shot of growth hormone, when she reaches maturity, there are surgeries that if she wants can help with her appearance. But there is nothing that can be done to make her fertile. So, my wife and I decided to not wait for a certain age or time period to tell her. We simply make adoption part of her reality. When she plays dolls or pretends to be married and a mom, we enthusiastically talk about how good a mom she will be to her adopted children children and blessed she and her children will be. I know that at some future time, she will deal with the trauma and reality of being infertile, but I hope that by raising her with this simply as a fact of life, it will soften the blow for her when reality hits her in the face.

In talking with my with my sister, who has a 2 year old son who may or may not have SBMA, I suggest that she raise him in a healthy manner, eat right, plenty of exercise, and a good night's sleep. If my nephew is raised with these healthy habits, he will have the best life (physically) he can have, whether he has SBMA or not.

I feel your pain. I pray for you and your husband, and your son. Whatever decisions you make, I know you will make them in the best interest of your son and family and in the end, that is what is best. Please remember that you are not alone. My prayers are with you.

Jim, as usual, you give great advice. Your optimism is refreshing.

"One day at a time" is what we have and what we need to be thankful for. Tomorrow is another day, but "right now we have only today."

Thank you both for your responses. I know that I sometimes lose sight of the fact that my perspective is very skewed. My mother had the benefit of enjoying life with my father for a good 20 years before he began to have difficulties, whereas I can only remember a few years where life wasn't progressively harder for him. I also know that his disease progressed faster than is always necessarily the case, since my uncle is still in better shape than my dad was before he passed away, and he is only 1 year younger. I see that there is promising research out there that may be able to help my son.

And my husband and I have discussed how important it is that we make physical health a priority in our own lives, so that we can set a good, functional example for our son to follow. Now that I have had a few days to let "the worst" sink in, I realize that there are so many other things that I could be dealing with that are really far worse. I will continue to stay involved and do what I can to help in the fight against this disease.

Great Attitude! Sometimes it is difficult to see the forest because of all the trees.

No two people with the defect progress the same way nor have the same symptoms. Your comment about taking care of your health as well as your child's is important. Exercise, eating right, getting the proper rest, etc. are all important.

Children are a blessing and living with guilt or fear does nothing to help a relationship.

I read your posting and can feel your fear...it is palpable! Yet, my thoughts are as follows...
adore the feeling of your baby rolling around in your tummy, kickin' your ribs and squishing your bladder. When he is layed into your arms for the first time...you will know what LOVE really is, unconditional and pure soul- reachin', magical , beautiful LOVE! When he is peaceful, sleeping quietly, you will stand by his side watching to see if he is breathing. As he hungers for food, you will enjoy feedin' little critter and be amazed at his tiny fingers upon the breast...and love will enter again. His piercing sceams will literally scare the life out of you from infancy to, well, forever! You will cry when he cries and feel his pain. He will say something or do something and either make you mad, or laugh like hell. As I am writing this, piercing screams filled the air as my 12-year-old son, sick with an infection, screamed MOM! The dog is gone! HELP! (Found it). You will hate it when he is sick or helpless as there is nothing else that will cure him, just time, Sprite, and hugs! Broken bones might make you faint, hunting and bringing home dead animals...just bless your son & the animal that one survived! My sons are cute, compassionate, smart & funny...not when beating on each other or their sisters. Fear drives every parent crazy. (I have two girls. Yikes!) A disability is powerful. It brings about the absolute need for communication. We choose our reaction. I do cry and wish life were different sometimes. Then I choose to look up into the nighttime sky and see beauty, possibility, and remember that through the beautiful amazing souls that were born to us on earth, We find LOVE. Pure, sweet, crazy LOVE! Please, ENJOY this life and the absolute miracle that is birth. Fear takes up a lot of time & builds walls. Being a mom is hard. Laugh out loud today, tomorrow, always. KD is our normal. Just remember to communicate with those around so you can better communicate as well as, educate yourself & son. Hugs and peace to you. May the miracle of life awaken the senses that are hidden. Embrace KD for we are learning tolerance, fortitude and perseverance, dignity & the absolute frailness of our existance. I believe God wants us to love one another as He loved us. So just love. You already are a good mommy because you think of your son and his future. So positively just LOVE. Is it not the hardest thing as humans we are asked to do?

For everyone who gave me kind words during my pregnancy, I just wanted to share: Edward Nicholas...Edward was my father's middle name

I have read the recent discoveries related to Kennedy's and am very positive that they may come up with a treatment before he hits puberty.

Sesara, Edward is just beautiful ... just beautiful.

Hope is what we have and pray is what we do.

Congratulations! What a handsome young man!

Sesara,

Has your son been tested? You mentioned in your posting that you were tested but made no mention of your son. If you are positive and he has not been tested, there is a 50% chance that he does not have KD. Just because you have the KD allele does not mean he must have it.

Ed

IGF-1 Does Look Promising
http://www.cem-meso.com/featur...o-growth-factor.html

I do not know if it work or not ,
does some body try it ?

Leon, please read my response under Steroids IGF-1

Just saw your son and what a cutie!!! I have tears in my eyes and goosebumps just looking at your beautiful son. God bless you all!

My son gets stronger every day. I see him developing his muscles...he will walk soon. He is sooo strong! We have nicknamed him ox. Sometimes, I watch all this and get choked up, thinking of how he might have to go through all this in reverse, remembering my father. But the recent events that there might be a treatment give me so much hope. I want to thank each and every person who is supporting the KDA - I am getting as many people as I can to vote for Susanne right now!