WWF14D?

djtippietoes · June 2014

I got so excited about the normal microarray results yesterday that I didn't really post the full story.

Basically, the short version if you didn't see my original post is that the pedi was concerned about Alexander being small (he's in the .7% for weight. That's point seven, not 7th.) and thought he had some curious other features including slight syndactyly (webbing) of his 2nd and 3rd toes, widely-spaced nipples (I've never noticed this), big eyes and just the general shape of his face.

So we did the microarray which looks at all of his chromosomes and makes sure there are no micro-deletions or micro-duplications and that comes back normal. But our pedi still wants us to go to the geneticist. I asked why if the microarray came back normal and he said that there are tons of genetic issues which are so rare that they wouldn't come up with microarray testing. The geneticist might be able to identify that he has this, this, this and this and those symptoms together suggest X syndrome. But at the same time, why are we doing this? He is developmentally on track. He does not have any medical issues that we know of. This all arose from our pediatrician just thinking he was a funny looking kid (and also because small).

So WWF14D? Keep going down this genetic testing rabbit hole (for potentially no reason and a lot of heartache waiting for results) but rule other things out? Just wait to see if any issues arise in the future before going? Get a second pediatrician opinion?

magentawarped · June 2014

If it were me, I'd probably wait it out. If he started showing signs of a problem in the future, then I'd go. If he's doing well, though, I see no real reason to keep driving yourself nuts looking for an issue that may not even be there.

Codypup · June 2014

Ugh, this is so hard. I'd probably seek a second opinion from a pediatrician to start.

I'm also the kind of person who will dwell on something until I get a clear cut answer. So in the end, I might see a geneticist, but I don't think it's an emergency, "DO THIS NOW" kind of situation. As you said, your baby is healthy and happy, hitting milestones, and overall a beautiful little boy.

What does your gut say? What's your H's opinion?

boogerbearoriginal · June 2014

Ugh, I'm sorry you're still left feeling like there are unanswered questions.

I would chat with the Pedi more about what he suspects could be the issue, and if it is X syndrome what that means for LO. And talk with him more about the pros/cons of waiting to see how LO progresses. At 4m old, would he even be displaying issues yet? Would there be any benefit to knowing now vs later if something were amiss? A second opinion certainly couldn't hurt either. Just to see what they suggest in terms of wait/see vs. pursuing additional testing and it would be helpful to see if that Dr suspects the same issue.

Depending on the answers to those questions, I think I'd lean towards talking with a geneticist to see their opinion on things. And from there, decide whether to continue with additional testing.

Madelyn0713 · June 2014

I would see the geneticist. But, similar to @Codypup‌, I wouldn't be able to stop worrying until I had answers. Also, I'm not sure if you plan to have more children, but if you do, and your son does have a genetic disorder, it could be valuable information to know. At least it would for me - maybe it wouldn't be for you.

djtippietoes · June 2014

I guess my gut says to go ahead with the appointment. We already have it scheduled (I forgot to mention that) and it's in July at Emory University, which is near my house. MH does not agree with this though. He thinks this doctor has already caused us a world of heartache for seemingly no reason and there's no reason to keep searching for something that could be wrong when there doesn't seem to be any issues right now and we should cancel the appointment.

We have a 5 month appointment at the pedi for a weight-check. I guess I could talk to him more about it then. It's before the geneticist appointment. And good point about the deductible.

cattuccino · June 2014

This almost reminds me of when people were questioning about whether to do the pre-screening at 12 weeks.
If nothing else it could be information. It could be further peacee of mind.
It could be the last final step and you can move on and not wonder and not look at Alexander the way your Dr mentioned and question.
There's a lot of wonderful advice here, I'd go ahead and keep that appointment.

And it bears repeating, Alexander is a wonderful and amazing little boy and nothing will ever change that.

TessyMessy · June 2014

djtippietoes said:

I guess my gut says to go ahead with the appointment. We already have it scheduled (I forgot to mention that) and it's in July at Emory University, which is near my house. MH does not agree with this though. He thinks this doctor has already caused us a world of heartache for seemingly no reason and there's no reason to keep searching for something that could be wrong when there doesn't seem to be any issues right now and we should cancel the appointment.

We have a 5 month appointment at the pedi for a weight-check. I guess I could talk to him more about it then. It's before the geneticist appointment. And good point about the deductible.

I think you have a good plan. If it were me I would keep the appointment with the geneticist even if its just a consult. If the testing is invasive I would ask about waiting. I am a very anxious person by nature and the "unknown" scares the crap out of me so I would want to try and get a definitive answer. I'm sorry you are going through this right now. I'm sending you big (hugs).

southerngal07 · June 2014

((hugs)) That's a tough decision to make. If you want a second opinion from another pedi I'd be happy to pm you our pedi's info. He's really great.

If it were me I think I'd have the testing done. I think I'd want to know answers so we could arm ourselves with information. Plus I hate the fear of the unknown.

djtippietoes · June 2014

greenbunny79 said:

I would want to know if there was anything they would do differently if they found out that it was x syndrome. Also think about if it would give you closure or just create more anxiety to go through the testing. (Did they tell you syndactaly, while it can be a sign of a micro deletion, is also a natural variant? I have it too.)

It would depend on what x syndrome was. I mean, if there was something we could do to help him if he had whatever it is, then we would, but if we couldn't do anything, then nothing would change if that makes sense.

I actually have slight syndactaly too. And my father's toes are all jacked up.

djtippietoes · June 2014

@tlex do you mean that it raises a red flag that there's something going on, or it's just a gene that's been passed down through my father?

I'm confusing myself because I'm saying X syndrome when I mean X as an unknown and not as the X chromosome.

djtippietoes · June 2014

@tlex granted i know next to nothing about genetics (save for my google-fu skills of the last few weeks), but couldn't it just be something that runs in our family? The toes? Why would that suggest a disorder if both my father and I have it and don't have a disorder?

karich · June 2014

I would go see the geneticist.

If LO did have a syndrome, I would want to know what it was, and if it involved any other developmental/health issues that could arise in the future.
I would want to be prepared with all the necessary tools/information to support my child.
Also, like pp mentioned, a diagnosis could be important if you planned on having more children.

nebraska84 · June 2014

I would probably go through with the genetic testing, I am the type of person that would always wonder.

littlepig2 · June 2014

huge hugs to you, mama! I agree with you and would see the genetiscist for peace of mind. I think I would want the second opinion to help my mind.

as a side note, a similar situation happened with my cousin when she was born. she was really small and the doctors saw webbing, nipples spaced far apart, and a few other things that were markers for Turner's Syndrome (or Tucker's? I always forget). my aunt and uncle went back and forth about whether or not to pursue more testing and eventually they went for it and all of the testing came back saying nothing was wrong in the end!

djtippietoes · June 2014

@elf828‌ don't worry. I googled that one weeks ago!

courtls22 · June 2014

I'm sorry that your husband and you aren't seeing eye to eye on this. I'm going to agree with PPs on keeping the appointment. IF something was found, there are many 0-3 programs out there which is why finding out sooner rather than later would be a benefit. You're a great mama and Alexander is a sweetie pie! You'll be in my thoughts!

djtippietoes · June 2014

We're going to go to the geneticist. MH and I do not agree with each other about it, but I think it's in Alexander's best interest to have a geneticist look at him and figure out if his curious features are anything of concern or not. Hopefully they are just the way he looks.

sprashley · June 2014

karich said:

I would go see the geneticist. If LO did have a syndrome, I would want to know what it was, and if it involved any other developmental/health issues that could arise in the future. I would want to be prepared with all the necessary tools/information to support my child. Also, like pp mentioned, a diagnosis could be important if you planned on having more children.

Cosign on this! If it were me, I would want to know about up front to be prepared.

djtippietoes · June 2014

Since the toe thing has come up a bunch, this is what his toes look like.

djtippietoes · June 2014

My 2nd and 3rd toe are connected but not as much as Alexander's. You kind of have to separate them to notice.

littlepig2 · June 2014

@elf828 I didn't know that it was only found in females! that's good to know.

@djtippietoes another one of my cousins (male) has toes that look exactly like that. they thought there was a 6th toe in between the webbing at one time... because 80's doctors. ps: I have 18 cousins so lots of things have come up while growing up.

big hugs that you and YH don't agree on the geneticist. that must be frustrating and I'm sure it's not making things any easier. lots of t&p's being sent your way and I hope you have an answer soon. :x

djtippietoes · June 2014

I'm all for genetic testing. I had the sequential screen and an amnio while I was pregnant and we just had the microarray. So I'm certainly for testing and that's not the issue.

It's more that we've had so many tests and they've all come back normal. Do we keep chasing something that might or might not be there especially given that we haven't had any developmental delays so far?

But the answer to that, I've decided, is yes. The appointment isn't for a month or so though.

iwubrory · June 2014

Hugs, so many ladies here are better with words than I am but I agree with the majority. I'm for testing too and I'd go ahead with this next appointment but if nothing comes of it then I think I'd stop then. I totally get your point about chasing something that may not be there.

keags5496 · June 2014

Just catching up...sorry for the late response. I'm glad you've settled on the decision you have. Honestly, I'd be doing the same thing. Hearing from an expert that things are ok or not would make me more accepting of whatever the outcome is. Sorry that you still don't have answers! So frustrating. In the meantime, enjoy every little snuggle and smile and eat up those sweet moments. Don't let worry make you enjoy these months any less.

Eta: As someone with a bit of a background in genetics, TLex's X chromosome info is spot on. I wouldn't doubt that's where the traits are coming from at all. I think the only real question is if those traits are just quirks or some sort of disorder. Either way, I'd make sure your geneticist knows about the family history.

Want a personalized experience?

WWF14D?

Re: WWF14D?

Choose Another Board

Search Boards