When to be tested?

[gijohnnysgal]

I am, admittedly, a newbie to all of this and quite ignorant when it comes to the various syndromes of which cranio can be a part.

Henry's craniofacial surgeon said that Henry appears non-syndromic. I dislike the word "appears;" I would rather know yes or no.:sigh He is our first child, and knowing whether there is a genetic component may influence our decision to have more children...or at the very least influence when we decide to try for #2.

Is genetic testing something I can request? Is it something my husband and I should undergo? The surgeon said our odds of having another child with cranio are 1 in 4000- the same as anyone else, but I have read other folks have been given different odds.

What are your experiences?

[cheryl2]

You absolutely can request genetic testing. Do you or your husband or either of your families have facial features, vision or hearing issues, that might indicate a syndrome?

The thing to know about genetic testing is that the answers you receive won't always be clear cut. It would be nice if geneticists could always say without a doubt your child does not have a syndrome, or positively identify which syndrome a child has. But they aren't always able to do that.

I don't know if they normally test for every syndrome associated with cranio. In our case, they suspected Saethre-Chotzen syndrome based on Clara's other features, and my features and family history. So they only tested for that. It was positive. If the test had been negative, I don't know if they would have wanted to test for other syndromes. I probably would have pushed for it though.

So, your child can be tested for a syndrome, the test could be negative, yet he might have a different syndrome they didn't test for.

Also, even if they do discover a syndrome, it doesn't mean they can tell you definitively your odds that any future children will have cranio. In our case, any child I have has a 50/50 chance of inheriting Saethre-Chotzen syndrome. That, however, does not mean my child has a 50/50 chance of having cranio. With many of these syndromes, the features vary widely. I also tested positive for SCS, yet I do not have cranio. I have other features associated with the syndrome, however.

I hope this helps!

[gijohnnysgal]

That does help, Cheryl! Thank you! Neither of us have vision issues (beyond nearsighted/farsighted issues), hearing issues, or other facial issues in our families. My husband's sister has cerebral palsy due to getting stuck in the birth canal, but otherwise, the things that run in our families are high cholesterol, high blood pressure, and various cancers.

I am hoping to talk more about things with our surgeon. He didn't think genetic testing was "necessary," but it is something my husband and I would like to explore.

[Sandhiller]

Hi,

You know, I don't know if the testing would be "necessary". I understand you might want to investigate why the cranio appeared- but you might not get any answers.

I have a Crouzon's syndrome and am axiously awaiting testing to see if my daughter has it. Although she shows little to no signs of the syndrome, it is still nerve racking to know that she could have it. (she was born just 10 days before your sweet little guy!)

If I had a choice whether or not to test, I think I still would just to be sure. So, if testing gives you peace of mind, you should do it.

And I agree with Cheryl- I too have a 50/50 chance of passing on the gene with each pregnancy. So, it is hard not to let those odds factor in to whether or not my husband and I want to have more children.


Anyway- I wish you luck and will keep you in my thoughts.

[craniomommynbaby]

I don't know if they normally test for every syndrome associated with cranio. In our case, they suspected Saethre-Chotzen syndrome based on Clara's other features, and my features and family history. So they only tested for that. It was positive. If the test had been negative, I don't know if they would have wanted to test for other syndromes. I probably would have pushed for it though.

The cranio in our family is definitely linked to a syndrome, but we don't know which one. When we saw a geneticist 6 years ago, she drew blood and sent it to St. Francis for testing. We opted to just have the test for Saethre-Chotzen because it seemed the most likely, but we could have had the test run for several more at the same time. We just did not have the money out of pocket to run the full testing. Since then, I have wavered on whether I want to pursue it further and have not so far. (We were negative on SCS.) I need to know more about the rights of people diagnosed with craniofacial syndromes when it comes to insurance coverage.

[puddin']

Our craniofacial pediatrician offered us testing based on being bi-coronal and a few other "soft markers." (low hairline, high palate, an ear cartilage angle all of which my husband has, so maybe they are familial). They drew them when we had initial lab work done a few months before surgery. Came back negative. They tested for a variety of common craniofacial gene areas.
She also said that there was another more specific test that could look at another gene area that is not in the original panel. We had that done with pre-op labs. That was about 8 weeks ago and we're waiting on it. Makes me want to pick up the phone and call right now! (No one called us about the other labs...only when I called did they tell me they were "normal.")
That was our timeline. Hope it helps.

[Janet]

Our craniofacial pediatrician offered us testing based on being bi-coronal and a few other "soft markers." (low hairline, high palate, an ear cartilage angle all of which my husband has, so maybe they are familial). They drew them when we had initial lab work done a few months before surgery. Came back negative. They tested for a variety of common craniofacial gene areas.
She also said that there was another more specific test that could look at another gene area that is not in the original panel. We had that done with pre-op labs. That was about 8 weeks ago and we're waiting on it. Makes me want to pick up the phone and call right now! (No one called us about the other labs...only when I called did they tell me they were "normal.")
That was our timeline. Hope it helps.

Can you tell me what an "ear cartilage angle" is please? Thanks!!

[tgatlinscorner]

We have already done some of the genetic testing for Thomas; oddly we had some of that done before we had the cranio diagnosis. The stuff we have already had done was to see what the reason for his mild hearing loss was though...and we still don't know why! We have another appt with his genetcis doctor after his surgery to see what's next for us.

We did have a choice in weather we saw the genetics or not; and knowing there was more to Thomas then his hearing loss I said I wanted to. His dad did not seem happy with my choice but he is starting to come around now!

I'm sure I really didnt help you much but just wanted to share with you.

[momtokendall]

After Kendall was born and diagnosed with Muenke we asked for my husband and I to be tested because the outcome would affect our decision to have more children. At first, the insurance company refused to pay for our testing. We had the pediatrician and the geneticist write letters explaining that craniofacial syndromes can be varied in their presentation and it was possible to have a syndrome and not know it. They also mentioned that the cost of testing was a drop in the bucket compared to the costs of surgery and other medical procedures if we had another child with a craniofacial syndrome. The insurance paid for our testing after that. I still have copies of our letters if anyone would like them.

Several other points- to anyone who has testing done, always ask to see copies of the results. After my husband and I were tested, the doctor's office called and said our results were normal. When I asked for the papers and reviewed them I realized they tested us for dwarfism, not Muenke Syndrome (same gene, different mutation)- it was a lab screwup, but if we had not followed through we never would have realized.

Finally, the reproductive technology exists to screen a woman's eggs for craniofacial syndrome mutations. Unaffected (most cranio syndromes are 50/50 ) eggs can be taken out and then implanted through in vitro fertilization. They are not able to do this with sperm though, so males would not have this choice. If it had turned out that I had Muenke Syndrome, we probably would have taken this route to have more children- for me personally I just could not stand reliving watching the suffering Kendall went through- it was just too hard. I will respect whatever decision Kendall chooses to make with her own reproductive choices, but I am glad that she will have some options.