Me and my husband are trying to find out... the doctor said to me and my husband that all of our kids would have canavans we dont have a 1/4 chance we have a 4/4 chance we were just wondering if both parents know what there mutation is and there child both of my children have a305e and me and my husband also have that same mutation we were just figuring out if any other parent has the same mutation as there child

I think that most families know their mutations.  My husbands and mine are different.  I don't know any parents that have the same mutation.  Maybe a call to Dr. Kolodney could help.  He has the best knowledge on the mutations.  Hope this helps.

me and my husband and 2 children we all have the same

Hi, Here in my country we may have problems with testing the type of mutation. That's why I'd like to ask you - is it helpful (in what way) to know the mutation? Are there any different courses of the disease for the specific mutation?

what my sons doctor said is sence me and my husband both have the same mutation all of our children would have canavans we have 2 children that both have it but they are different in many ways i think its cause they are boy and girl they both react to the disease differnt there are likes and dislike in both of them my son is 2 and daughter is 7 monhs my son when he was younger all he wanted to do was be held and walked around and drove in the car to relax and content him my daughter on the other hand just like to relax in her swing she loves it my son hated it my son hhe is currently in a bouncer chair that he is outgrown but my daughter hates the bouncer chair they both love load noise and motion and Lights

It took a very long time to find out our daughters mutation. Roughly around a year and a half to two years. And then we found out why....her mutation is considered "Unclassified". We were told that when they were trying to figure out what the mutaion is, they only look for certain things. And they did not locate any of those things they were looking for and that is why it took so long. So Dr. Kolodony realized that her mutation gene was never heard of. This all may not be of any help two you both. But we will pray for you and your family.

Hi my  son Calum had canavan disease.  We looked at the mutation when I fell pregnant with my next son Lewis, what they done was take bloods and a skin sample from Calum and blood from us.  The looked at markers in the sample and could see after cvs the baby did not have the same mutation as Calum, they could tell that the baby had my faulty gene making him a carrier but did not have my husbands.  They have never actually identified my husbands as they are unable ti find it but we also have another baby now and he does not have my faulty gene although he may be a carrier if he has Martins but they didnt check for this as they knew his genes were different from Calums

We have a 1 in 4 chance of children being affected with Canavan.  Yes my husband and I both have the faulty gene but the children can only get if they get both our faulty genes passed not one faulty/one clear or no faulty.

Hope this makes sense

Gillian

Hi Everyone,

Sorry it has been so long since posting.  We have been really busy.  Declan is doing very well and loving preschool! All is well with us and with Declan.  We had our mutations mapped with our MDs though MGH in Boston when Declan was first diagnosed and I have helpful genetics counselor info/details if anyone is interested.  I have a fairly common mutation found within Irish /European heritage lines.  My husband was rare and a bit more difficult but identifiable and Declan's are mapped as those two together.  I would discuss your genetics questions with a good counselor or as suggested with Dr. Edwin Kolodny.  If my basic knowledge serves me correctly the chances for an affected child should be 1/4 with each and every pregnancy.  Hope that this helps. Feel free to email me with any questions.

Hugs to everyone,

Lara and Declan

This reply is to Gillian.  I see from your post that your husband's mutation was never found. This is so interesting to me. My husband's was not found either and at the time (13 years ago), there was no explanation for that.  We also had CVS with my second pregnancy, and my son (now 13) did not have the mutation that my daughter or I had, so they say he was not affected.  But because they did not find my husband's mutation, I wonder if my son could still be a carrier.

Did the doctors tell you why they could not find the mutation in your husband? Dr. Kolodny suggested we do blood tests again to see if they can find it now, but the cost will be $1500!

I had never heard of anyone else having this same situation, so it makes me feel better that we are not the only ones with this issue.  My husband convinced himself that his genes did not cause the Canavan's in our daughter, but i know that's impossible.

Please let me know if you have received any explanation for this from your doctor.

Thanks so much.

Patty Larson