Syndromic?

[Jacksmum3]

I just thought i would pick your brains, Jack was born with Bicoronal synostosis and he had exomphalos and a few other problems.
When Jack eventually had his surgery they found that his veins in his head near his brain were extremly large and also instead of having 12 little veins he only had 5, now whilst operating they found that 2 of these veins ruptured and started to bleed, this is because the veins wall lining has become thin because of there thickness, they are approx the size of the little finger. I do believe that children with pfeiffers have these type of veins in the back of the head. My NS and PS who have done over 700 craniofacial surgeries have never come accross a child who has had these veins at the front of the head and supposidly non-syndromic. Jack also has droopy eyes, a very high narrow pallete and I have a family trait, which is very short broad thumbs, I can send a pic of these thumbs if you like. My Gentetasist of whom is a proffessor in his field has done every test for all the syndromes and everything has come back negative. He is convinced there is something and wants to do some more detailed tests. My Dad, sister and 2 brothers have these thumbs too so he wants to get us all together and to bloods as he thinks these thumbs could be connected. What do you think? Could this be a syndrome that has not been found yet? Has anyone got anyone heard about the veins before?
It would just be nice to know what would be for Jacks future by knowing if there is any syndrome.
Sorry if I have gone on a bit.
Thanks Annmarie xx

[Jennifer]

That is so interesting about the veins........Did they express a huge concern over it?
If I had someone that wanted to do more research, I would probably go for it. I'm assuming since it's research, you would not have to pay for anything.....You may not get answers anytime soon if it's something they've not seen, but you could give them a start in finding it! Emily is involved in a research study for single suture- non-syndromatic cranio---to see what links they can find in the different cases and whatnot- if they can find anything. We go in at specific ages and they do all sorts of studies....it's about 3 hours long...they actually pay Emily to come. They even offer gas money (which I haven't taken them up on, but I may this time- gas is so expensive right now!)
Sorry to get off the subject- my short answer- yes, I would let them do tests (as long as not to invasive), as it could really only help as far as I can see?

[mayashekhina]

Hi Annmarie

I am with Jennifer on this one as well, genetics is such a new feild they are coming across new things all the time and I like to think the more we add to their knowledge bank the easier it will be for others who come along. Our Betty has a rare chromosome disorder that is only known by its number because it is so rare- she is going to be monitored and studied probably for the rest of her life (mind you we will not allow any invasive studies that will cause her any needless suffering just to justify a curiousity). Luckily technology has got to the stage where Bettys condition could be picked up but there are so many little children out there that present with things just like your son and technology just cannot yet identify the cause.

[Jacksmum3]

Hi, thanks Jennifer and Rachealfor your replies, before Jacks operation the Genetasist asked if they were allowed to take a piece of skin and bone to keep for future experiments to help with research which we agreed to.
Luckily here in England anything we have done i.e surgery, childrens medication, doctor's appointments ect have no cost because of the 'NHS', this scheme is payed for by our national insurance people pay when they work. I don't know how I would manage if I had to have used Insurance companies because I find it hard enough when you want them to pay up for the most simplist of things i.e a lost ring.
Anyhow I also just wanted to know if anyone new or have hurd of anyone with the funny veins?
This may be one thing I never find out? Racheal the NS was a bit worried because they were not expecting there to be anything out of the ordinary. They did say that due to the severity of his last operation we would have to think long and hard if there ever needed to be any more to be done. He does have slight pressures too but not worrying at the moment, they said they are going to keep a close eye on him over the next year. I am also waiting for an appointment for Jack to have a sleep study.
Racheal, I have read your story and I also wrote a little piece in your comments bit. I think your an amazing women and there is only ever one reason why these children come to people like us, and that is because we love them with all our hearts, and will do anything in our power to help and protect them.
Thanks again xx

[Jacksmum3]

Oh also if you Google the name Andrew Wilkie, the first person who appears on the top of the list is my Genetasist. He was in the team of Genetasists who founded Apert syndrome and the causes in 1995.

[mayashekhina]

Annmarie
Jack is such a little cutie so is your daughter Georgia what a gorgeous family!, I read your story a while ago and wondered if it was connected to something genetic because it definitely sounds that way. Look Im becoming an expert now :roll , but seriously when there is more than one problem presenting itself Doctors usually do take them as signposts pointing to an underlying condition as you are probably well aware (just thought Id write it for those who werent). Do keep us posted even if they dont find anything yet, sometimes its a case of waiting to let technology catch up, I know of a lady who was given one diagnosis only to have it turned on its head 12 years later.

Another odd fact is that because my daughter is missing genetic material her symptoms will not be put under the heading of a syndrome because a syndrome is a collection of symptoms and Material like Down Syndrome or Klinefelters syndrome.

I converse with a chromosome deletion outreach group, and just for support joined a Down Syndrome support group- they are welcoming of anyone and also heart kids support group- plus this group Beth fits under so many headings (sigh). What I am probably trying to say here is that if you will let me I could perhaps post your story with a few of these groups and find if anyone else has anything similar which might give your doctors a direction to look in- its always worth a try the worst thing that will happen is we wont hear anything back. What do you think?

[Satori]

Jack also has droopy eyes, a very high narrow pallete and I have a family trait, which is very short broad thumbs

These are features of Saethre-Chotzen Syndrome which is passed directly from parent to child.

[Jacksmum3]

Thanks, I also know this but all of the known syndromic tests known have been tested on Jack and all has come back negative. Not only Jack has been tested but me and my Husband too.
Just at a loss reallythe next test he wants to do is to get me to get all my siblings and father together and have bloods done to see if the thumbs have any connection, due to the hands feet and scull form together in-utero. Also my father was adopted by his Auntie and uncle, he knows his cousins and there children but none of them appear to have any cranio, but as for his Mother and father and his siblings we don't know because he has never met them before. My husbands family live in Sothern Ireland, but as far as I know his parents live in England.
Hi Racheal, yes I think that would be a good idea, maybe someone could have some advice. But as you say technology is always getting better , so it could just be a matter of time.
Satori- Have ou seen DS pics? If not go to my click on my name and have a look at my web page.
Thanks to both of you Annmarie x

[Satori]

They can only detect a small percentage of SCS cases at this point so testing neg for it doesn't mean anything to be honest. Its still dx'd on clinical presentation rather then positive genetic testing.

PS: I did see your little guy, he's a cutie!:)

[brandym77]

My daughter has SCS to, born with cleft palate, short thumbs, her pinkie overlaps other fingers, droppy eye lids, and we are goin back to the neuro dr at the end of this month to check on cranio. I would defin talk to your genectics dr about this one, it pretty rare. The only reason my genectics dr knew about it is the neo-nate dr had seen a few babies with this. SCS happens about 1 in every 50-60,000 live births, compared to downs at 1 in about every 800. So not alot in known about it. Are those the only things they have pointed out? Do you know if he had any Pfish testing done?

[Jacksmum3]

Hi Brandy, thanks for your reply. My Genetasist has tested for every syndrome including SCS he even did the one for Muenke Syndrome, we had a great chat on Sunday at the family weekend and he did a talk into Genetics and syndromes and Chromosomes and even down to the nuber gene that is effected in all the syndromes. With Muenke apparently studies show that all children who have either unicoronal or bicoronal should be tested for this the reason for this is the studies he has done come back that 70% of these children had the Syndrome. The strange thing about it is the fact that some people can have the effected Gene but with no symptom. Google and read up on it if you wish.
Andrew Wilkie is the proffessor on English Genetics, and in fact is known worldwide.
When I spoke and had an informal chat with him while waiting in a queue for our dinner, he asked if I could get my family together pretty soon and I said i will try very hard to, I also said but do you think we could be barking up the wrong tree and he turned and said that the reason the tests are to be done is to know either way and he said that unless we did them we would never know. He is great in what he does. He was talikng abot SCS in the conference too and I certainly know alot now.
Thanks Tc Annmarie xx

[mayashekhina]

I find geneticists are probably the most interesting health professionals, they have a way of explaining things that are just so enthralling. Good luck with everything it definitely sounds as if you have an expert in the field helping you and that is a rare privilege indeed!