just saw genetic specialist !
hi, i am brand new here and just spent a huge part of the morning posting a long post and lost it somehow! :-O i am giving it one more try...
i had a baby born w/ polydactyly 8 mos ago. my 3rd son, the 1st to have anything like this. it is not in either of our families (that we know of - previous generations may have felt superstitious about extra digits and very often would have them removed at birth and never tell the child) so we were shocked.
however, jonah appeared to be normal and healthy in every other way, so we didn't worry. when he was 6 mos old, we became pg again. i found i had many questions i couldn't find answers to online.
~how do i know if the new baby might have this, too?
~how do i know it's not actually part of some more benign of the 100 or so genetic syndromes linked to polydactyly?
~how do i know if this was inherited or random?
~what are the odds jonah's children could have this ?
~what are the odds my other kids' kids could?
so we decided to consult a genetic spcialist. it went really well - i love the dr! he sat there w/ us for almost 2 hrs, answering every question we could come up w/ and explaining things so thoroughly we actually understood it all!
the bottom line is he thinks jonah just has polydactyly and not a syndrome of other (hidden) problems. he thinks it was an accident of dna and not inherited from someone in either of our families. this means the other boys are not carriers and their children should not have it and the new baby should not have it. however, jonah's descendents will all have a 50% chance of either having it or being carriers.
there is currently no test to verify for sure that this is not a syndrome or to verify it was not inherited. there should be a test in the next decade and he thinks we should get it when it is available. he says evolution or god (whichever you prefer - - or both!) ensures the survival of our race by shuffling the deck of ppl's dna regularly.
you get anomalies like in my family, our baby teeth come in out of order. it happened to me and it's happened to all 3 of my boys. it's nothing harmful, nothing significant, just a genetic fluke that shows our deck was shuffled a bit.
he says jonah's deck was shuffled a little more than a bit. 1st he has the polydactyly...then he has 2 whorls on his head. i guess humans are genetically programmed to have one hair whorl you can usually see at birth on the back center top of the head. jonah was born w/ 2 - one on the front and the normal one on the back.
most ppl also have an inherited vascular birthmark of some sort at birth. in my family, we all have the type called 'stork bite' on the back of the neck and they usually fade away by 2. jonah had this one as well as one on his left breast. this is another genetic anomaly, to have 2 vascular birthmarks.
and finally, aside from the extra digits from polydactyly, his 'normal' pinky toes are bigger than his other toes and are curved - another variance of normal genetics for the rest of the population. the only real cause for concern upon his examination was that the dr. couldn't find one of his testicles. i have never felt both of them yet, either.
all of the other anomalies are what he called, 'shades of normal', meaning his dna deck got shuffled but none of those things are harmful to him. even the extra toe and finger wouldn't really hurt him and in some places other than america, they don't even remove them. however, if the testicle is truly missing and hasn't been found by 1 yr, that could indicate sterility...which along w/ all the other flukes, could point to a mild syndrome of some sort.
so we are keeping our eyes on it all and watching how he grows... at this point he feels everything is totally fine and doesn't recommend any tests. he says for the pgc he would only recommend extra ultrasounds at this point. if this baby is born w/ any anomalies, he would want them both back in for chromosome analysis.
so i feel a lot better even tho i didn't get totally concrete answers. one of the other boys had a testicle that was hard to find til almost a yr, too - i'm not really worried about that yet, either. everything we learned was fascinating - i'd noticed and always commented on his extra birthmark and hair whorl, but had no idea it was a genetic thing!
since the exam, i have found jonah's other testicle. i have also come to suspect a very rare and mild genetic syndrome called greig's encephalopolysyndactyly. it doesn't affect the organs, brain or development of the child, just very mild craniofacial aberrations. the extra hair whorl is one symptom. also having a higher forehead, larger/smaller than usual soft spot, etc... can indicate it. there is no test for it yet, but as soon as there is one, we will have it done to confirm. jonah is still a completely beautiful baby reaching milestones early or right on time.
i found this board and decided to post here b/c i was browsing and saw many questions i used to have. i hope the info i have found can help some families. i am reading a *fabulous* book right now called, 'Mutants' by leroi. it describes genetic mutations that can happen before conception even, in terms the layperson can understand. it has a large section on polydactyly.
i also learned that preaxial polydactyly (affecting the thumb/big toe side) is most common in white ppl and the postaxial polydactyly (pinky side) is most common in ppl of color. jonah has postaxial tho we are white. it is atypical, but not all that unusual.
we had his pinky finger tied off at birth - it was a 3/4 pinky w/ nail, knuckle and everything. but the toe is an extra pinky w/ a long bone into the foot, all of which must be removed. the long bone causes too much bone crowding and will lead to painful problems later if we don't. he will have the surgery at 1 yr and be in a cast for 4-6 wks after.
i haven't figured this board out yet, so if anyone wants to reply to me directly, e me at mumma2wldthings@aol.com. i hope to become a reg here and look forward to getting to know you all!
ps - to the mom who had 2 babies w/ the same extra thumb (carol?): you have to have inherited preaxial polydactyly. this is an autosomal dominant mutation so there is no way your 2 children could have the same thing unless it was passed down. you or your hubby are a carrier. one of your ancestors had polydactyly or was a carrier. all of your children have a 50% of having actual polydactyly or being carriers and so do their children and their children...all the way down the line.
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Hi, I also just found this web site. Thank you for all the information that you have given.
My daughter was born with an extra thumb (three bones and a nail). She is now 7 months old and will have the thumb removed when she is 10 months old.
When I was in the hospital having her, all the doctors would tell me it OK, and it will be removed. I took her to a hand specalist, he got me all worried. He told me that she could have another disorder and would research it and tell me what tests to have done on her. That was the last I heard from him and that my local doctor would do that. Her local doctor hasn't given me any information. My next visit to him, I want to go in with every bit of information I can get my hands on and ask to have tests done.
My main concern with my daughter, Louise, is her real thumb is allot smaller that the one on the other hand. She doesn't have the webbing inbetween her thumb and first finger. She also doesn't use her real thumb and doesn't seem to have that much use in it. Her extra thumb is becoming the dominant one and that has no use, meaning she can't bend it etc and she seems to have no controll on what it does.
As far as genetics go. My female cousin had a son that was born with an extra pinky finger, that was tied off at birth. My first born son, has no exta digits. No one else in my family or my husbands family has extra fingers or toes.
THank you once again for your posting and sharing what you know.
All the best to you and your family.
Re: just saw genetic specialist !
Thank you so much for posting all that very useful info. My daughter Lilly was born just like your son with postaxial on both hands and feet. They tied her fingers at the hospital then we had her toes removed at 8 mo. This runs in my husbands side ofthe family. Both his mother and sister were born with extra digits. His mother had fingers and his sister toes. We are now expecting again and I was very intersted to know what the chances of the new baby having this is. Thanks again
me too!
I'm also having my second and am interested in finding more info about the genetics of it all- if you want to "join forces" email me- thirteen11linna@aol.com
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