Announcement...and question

[julienc]

Hi Everyone,

I just thought I'd tell you all that another little HFI-carrier is on its way! My husband and I are expecting baby #2 this October. So far the pregnancy is going great, and I'm a bit over half-way through. We also found out we're having a girl!

I had my follow-up (and probably last) appointment with my geneticist last month, and we talked at length about DNA testing for either my husband or this baby. (I didn't know about HFI when my son was born.) He said the testing for my husband could be very inconclusive for a list of reasons that I won't go into here. His take was that if I was going to do testing at all, that I should test the baby when she is born. His overall advice, though, was that the odds of her having HFI are so low that we could easily do the wait-and-see approach. I clearly know the signs to look for once food is introduced, and I have an automatic "in" at the clinic if we need to get her checked out.

So, I know we have a few HFI moms on here - what did you all do for testing? Anything? Nothing? Sarah, I vaguely remember you telling me that you did have Ethan tested at birth. Did they take blood at the hospital?

Anyway, just curious if you all had any feedback. I'm leaning towards the wait-and-see approach, but at the same time it'd be nice to just know for certain one way or another. Though I suppose the DNA testing is never 100% certain.

[Tammy]

Congrats Julie
Great news! Not much help with your question as I'm on a different aspect of HFI. If I would have had another baby, I would have had them checked, but then I already have an HFI baby.

I still wanted to say congrats on the news. Baby's are so great. Now if I could just get my son to co-operate......... lol.
Tammy

[sarahk]

Mike here:
Congrats on the baby!

As far as testing-we checked myself and Ethan with Dr. Tolan's lab in Boston. You can download the paperwork from his website-and I called them too. I had my dr. order the test and draw the blood and mail it.

For Ethan-I believe we asked the doctors to collect some of the cord blood, so they wouldn't have to draw (more) blood from Ethan. Dr. Tolan was pretty helpful with all my e-mails. It takes about 2-3 months to get results. Ethan's came back inconclusive, so they ran it again. Obviously he carries it in the same location sarah does-but he's just a carrier.

According to Tolan's website-the test is $450, and subsequent tests for family members are free--I'm betting you can get all the tests for free, since you are positive, and I'm sure they would love more guinea pigs...sarah was tested their 15 years ago, so our tests were free

I wanted to get Ethan tested as soon as possible, b/c I was concerned baby formulas and meds that have sugar in it.

I thought it was a good idea to get me tested as well--because, even though, as Tolan explained, a negative test won't rule out HFI-b/c they can't check your entire DNA-they can check the locations where Sarah is positive, and work from there-and if you husband is a carrier-they can check that location on your daughter--ie: b/c they know where the location of Sarah's HFI gene-they can check ethan their right away.

I don't agree with your Dr. who said the chances are so low--sarah's older brother does not have HFI, and she does. I'd wait until the baby is born-there isn't much you could do for her anyways in the mean time.

hope that helps.

[millan]

Congratulations!
I had decided early on that I would test my baby when she was born as soon at it was possible. I discussed it with my doctor and we came to the conclusion that we could wait until shortly before I was going to give her other stuff than breast-milk to eat.
Just before she was 6 months old they took a blood test and a few weeks later I got the reply that she didn't have HFI. I know that it wasn't a 100% sure answer, but at least the possibility had lowered to a ridiculous amount, and that was enough for me.
I considered the wait-and-see-approach briefly, but even though I know the signs, I didn't want yet another thing to worry about, being a first-time mom and all.
It's really up to you and your gut feeling how you do.
Let us know how everything goes!

[olivias mom]

congratulations on your wonderful news!!! With my daughter we had no idea about HFI or no family history(as it usually goes with autosomal recessive issues). She breastfed well and showed symptoms as soon as we tried feeding her. When we finally got in to see the genetic MD she was 15mos old and they drew blood in the office and sent it to Dr. Tolan where they tested for 3 of the most common mutations of HFI. I was told that if 2 of the 3 were positive that made the diagnosis. The plan was if they were negative they were going to do a liver biopsy. Since her blood test was positive no further testing was ordered. We paid 450$ and it was not covered under our insurance because that lab was out of network.I was also thold that babies of HFIers would always be at least a carrier.

[colormist]

Congrats Julie! My geneticist recommended the same steps that Olivia's Mom went through. Just breastfeed until they're old enough and then gradually introduce sweet foods to gauge a reaction.

[sarahk]

If you try that method and supplement with formula, make sure the formula is safe. Also, the try-and-see method has one drawback-as I'm sure you know, sooo many things make babies spit-up/throw-up. We tried giving Ethan some apple juice once-when he was a few months old, and he (violently) vomited, almost instantly-but he doesn't have HFI, it just didn't sit well with him