a family affair?

[fullhouse3b2g]

We just got a call back from the genetics clinic. They strongly suspect a syndrome. Instead of going through the "craniofacial geneticist" though, they want us to see the "heart defect geneticist". They still think that it's a craniofacial syndrome, but with Isaac's heart defect they think that the heart geneticist would be the better one to see. They have set him up for an appointment in September. They want him to have another ECG done at their office directly before the appointment. So we started thinking that will take up a bit of the day for us...THEN....they told us they want ALL of our biological children to come in for an ECG!! They're going to do all 4 of our biological children's ECG's and appointments one right after the other with a break for the doctors to go over the ECG results then we'll be meeting together again that day to discuss the findings and further counseling/test planning/diagnosing. They said to plan to be there all day! I guess that makes it a family affair, huh?!

For anyone who doesn't already know, all of our biological children have had extensive medical problems of unknown origins and each has had a metopic ridge of some degree. Some have also had heart defects similar to Isaac's. We've been to MANY doctors who have never been able to figure out why my children have so many issues even though they have felt that there must be an underlying syndrome or cause. In the past our children have all been treated seperately with no real answers, getting them all seen together will be a new approach and hopefully give us some real answers. We are very excited to have HOPE that we may FINALLY get our answer.

[Tawnia]

Wow that's awesome Leigh! (well no the long day part but it will definitely be worth it if you get some answers!). Now you totally have me freaked out at the link to the heart condition since Azia was born with a VSD :(

[Janet]

Hopefully you'll get some answers....not until September...holy that's a long time to wait.

[fullhouse3b2g]

Aww, Tawnia...don't freak out. I would ask your doctors (any and all doctors that you see) if there could be a link or if you should see a geneticist. We were told that anytime more than one system is affected that a genetic consult was needed just to rule out the possibility of a syndrome.


Janet- I know! September seems a lifetime away! Oh well, I've got you ladies here to keep my mind occupied at least. lol

[Janet]

Sorry...I'm at work so I had to minimize it for a minute....I didn't realize that all your children have the mild metopic ridge, does any other relatives on either side have any cranio issues?

[three.little.boys]

Leigh- I know you are ready to get some answers! I really do hope you and Sam get some! Ridge and medical problems or not...you have adorable children!~!! You must be so proud of all of them and the challanges that have faced!

[melsch]

WOW! What a day that will be!!? Do you have a prescription for valium?! Seriously, I am so glad that you are finally headed in the right direction for some answers! What a great feeling that must be!

And I concur! Great lookin familY!

[melsch]

WOW! What a day that will be!!? Do you have a prescription for valium?! Seriously, I am so glad that you are finally headed in the right direction for some answers! What a great feeling that must be!

And I concur! Great lookin familY!

[fullhouse3b2g]

I really need to take the time to type up Isaac's story and post it here...it is so long though.

The short answer to your question...yes.

The long answer....

Each of my children have been born with really small heads, and either little or no soft spot. I have questioned many doctors about if it was normal or not and was always told that while it wasn't normal it was fine. I never thought anything about it. We also noticed that in the kids pictures we could see a line that went up their foreheads where the flash/lighting bounced off of a ridge there. Since it was never very noticeable except in pictures we never even imagined that it had any medical implications...we just lovingly called them all our klingon kids (like the character from Star Trek).

After Isaac was born we noticed that his ridge was more prominent than our other children's were, but we still thought nothing of it. Until one day my sister in law called and she was all worked up about her son (who is 6months older than Isaac) having some weird line up his forehead and the doctor wanting them to see a NS for it. I laughed and told her...it's nothing. ALL of my kids have it. She took my kids pics to her NS and he said that they all looked like they had metopic craniosynostosis.

After getting Isaac in to see the NS and him being diagnosed with metopic cranio. we started thinking about how it could not be a coincedence that 4 of my children and also my nephew all had a seemingly rare condition like this without it having some kind of genetic cause. We started asking questions to all of our family members and found out that my husband most likely has/had metopic cranio, as well as his father. My husband has a metopic ridge and his mother said that when he was a baby they were really concerned about his head size and lack of head growth and she had to take him in weekly to have his head measured. My father in law talks about getting made fun of as a teenager for a ridge in his forehead as well.

So yes there seems to be a lot of cranio/skull issues in my husband's family. My nephew had surgery for his this past summer at 17 months of age. His NS said that he was one of the mildest cases he had ever felt needed surgery. My children also appear very mild with Isaac being the most pronounced (and even he was diagnosed as mild).

[Jenny]

all i can say is.. yikes! That makes for a loooong day! I can't see how cranio and a heart defect would be related, but i guess it could be possible. Good for you all to get checked out! At least you only have to make a couple BIG trips instead of a bunch of separate ones.

Tawnia-don't be frightened. It's not unusual for a baby to be born with some kind of heart thing going on.. Many are born with holes, and they close up just fine. Just stay on top of it, thats all!

[Janet]

I'm so confused when it comes to metopic cranio, our n/s and p/s said that it rarly is genetics, but the more stories I read it is genetics, we have craniofacial issues on my side of the family (cleft palates/lip) I have 2 first cousins who have had it, and another cousine's baby was born with it.
That's sad about your FIL being teased as a teenager...that was one of the reasons we went a head with the surgery.....our p/s told us that she may be teased when she got older, not to mention the risks of not having the surgery done.

[fullhouse3b2g]

Aww, thanks y'all....I think my kids are cute too. I'm very partial to kids with ridges, lol

As far as the heart defects and cranio in the same syndromes...there are a few that have been mentioned to us. They have to do with connective tissue disorders/syndromes like Shprintzen-Goldberg Syndrome, Loeys-Dietz Syndrome, Marfan Syndrome and Ehler-Danlos Syndrome. We are actually scheduled to see Dr Dietz one of the doctors that "discovered" Loeys-Dietz syndrome.

Janet- It is soooo confusing isn't it? I think that there's a lot of missing info on cranio and especially the metopic suture. As well as syndromes that include single suture cranio. I don't pretend to know the answers, it is all very confusing to me. I feel very strongly that more research and answers are needed. I think that NS's as well can only treat and advise based on the research that has already been done...which is not enough.

[Pocket]

Well it's gonna be good to get someone to look at the whole picture instead of seeing or treating your children separately. It does sound pretty unusual and I am glad things are moving for you and you will hopefully get some answers.

[Alison]

Im glad that you have a chance to find out if it is all related! And as far as syndromes go, i didnt know that some cranio are syndrome related untill i found this site. Before i found the site me and my mum knew almost nothing about my cranio, and the doctors never really answered our questions. You are all very lucky to have each other for support!

I hope everything goes well for you in september!