Tetralogy of Fallot - Hysterical - Updates on page 3 and 5

[steph.]

I am so glad the amnio results are clear! My husband felt similar to yours when we found out our baby might have down's. What if she was in the lower end of the spectrum, non-verbal, no-functioning, what if she had autism, what if she developed dementia at an early age like a lot of them do? What if something happened to us, and the burden ended up with Sophia? The most upsetting and stressful time of our lives. Thankfully our amnio has come back clear too.

Heart problems are still very scary, but as you have said now at least you know what you are dealing with and can make a plan to provide your little girl with the best care. Now try to relax and enjoy the rest of the pregnancy. I am sure this little girl will wonderfully!

 

[Proserpina]

40% develop schizophrenia at some point in their life.

I've never heard of this being this high.

https://www.schizophrenia.com/szgencounsel.htm

I'm not saying that you did not get the statistic from somewhere, but there is a lot of conflicting information out there about how severe and widespread the symptoms of DiGeorge are, in part because the disorder is so "new" to the world of genetics and still has a lot about it that needs to be studied, and in part because it's believed that the most mild cases go undiscovered and unreported.

The other really scary thing about DiGeorge is that its not Down's. With Down's you sort of have an idea what your child will be like. [SNIP] You don't have people who suffer from Down's and don't know it.

It's odd to me to think of this as a bad thing. Yes, there's more uncertainty where DiGeorge is concerned, but there is also more hope.

Re: low IQ scores, the VCFS foundation explains:

Rather, [a drop in IQ score] reflects the specific type of learning flaws that children with VCFS have. Many IQ tests, particularly the Wechsler scales, depend heavily on language mediated problem solving and abstract logic. These are specifically the areas in which children with VCFS do the poorest.

https://www.vcfsef.org/about_vcfs/faqs.html#3

Like I said earlier in this thread, I was told DD has an IQ of 70 last fall. However, my FIL happens to be one of the best-known neuropsychologists on the planet, and he's had the chance to observe and interact with DD in settings that a typical clinician would not. He does not think that the 70 IQ diagnosis is accurate, but that the standard IQ test just isn't a strong way of measuring her intelligence. (He's obviously biased because it's his granddaughter, but still.)

 

[TMonster]

That site says 25% which is still pretty high. I got the 40% from speaking with the cardiologist and during my session with the genetic counselor and pediatrician who specializes in the condition. I've also read the number online somewhere but I have been to so many sites at this point I think my brain starts to blur at which one said what.

It's odd to me to think of this as a bad thing. Yes, there's more uncertainty where DiGeorge is concerned, but there is also more hope.

Oh, I don't think of it as a bad thing. My point was that with Down's if someone were to make the decision to terminate the pregnancy as DH was urging me to do, I think as painful as it might be, it might also be slightly easier for some because you know what you are getting into. With DiGeorge, there are cases that are so mild they are undetected and it makes that decision so much harder because all you can think about is what if its a mild case or at the time I was asking my husband what if you or I have the condition, because of the 50% pass on rate if one of us have the condition. What if we had the condition but it was so mild that we never knew about it and then the question is am I supposed to keep getting pregnant and terminating pregnancies until I get lucky? I mean it was a horrible thing to say but he also had to understand what he was putting me through and that there are cases that are so mild that he or I could essentially have the condition and we could plausibly have a child who was just like us as well.

Like I said earlier in this thread, I was told DD has an IQ of 70 last fall. However, my FIL happens to be one of the best-known neuropsychologists on the planet, and he's had the chance to observe and interact with DD in settings that a typical clinician would not. He does not think that the 70 IQ diagnosis is accurate, but that the standard IQ test just isn't a strong way of measuring her intelligence. (He's obviously biased because it's his granddaughter, but still.)

Your daughter seems absolutely lovely and I could just hug her all day but there are also cases that are so much worse than her as well. Even in a case just like hers we also have the very complex heart defect which complicates the situation much more.

Education is also something really important in DHs family. They are pretty obsessive about it since he comes from a long line of academicians so its something his family felt very strongly about too and there was a lot of stress and pressure on me and lots of fights and tears over the subject.

I really hope more research goes into DiGeorge because its more common than Downs and yet it was something completely off our radar and hit us out of the blue.

 

[Yipee]

I'm so glad for you that it turned out to be only the heart problems, and not DiGeorge. Physical problems are of course difficult to deal with, but mental problems like schizophrenia.... very hard to deal with. In your position, I probably would have argued to keep the baby too, and just prayed it was a mild case. Life is so uncertain... you just never know how things will turn out.

About the heart defects, not sure if this will give you any comfort, but my experience with doctors is that so often thing turn out better/ easier than how the doctors predict. My mom broke her back when I was 4, and they said she'd never walk again. She did walk a few months later, and even went on to even have another child at the age of 43 (after having 6 kids already). My dad was in a bad car accident about 15 years ago, and was in a coma, on life support, for 6 weeks. The doctors said we should probably pull the plug; that he might not ever come out of the coma, and if he did, he'd most likely be a vegetable, unable to move, or even communicate. We didn't pull the plug, and he did wake up, and, though there is some brain damage, it's more like a moderate stroke... he's a bit slowed down and forgetful, but he walks, talks, sends emails, argues, reads, etc; all the things they said he'd never do.

 

[zanDark]

Oh, I don't think of it as a bad thing. My point was that with Down's if someone were to make the decision to terminate the pregnancy as DH was urging me to do, I think as painful as it might be, it might also be slightly easier for some because you know what you are getting into. With DiGeorge, there are cases that are so mild they are undetected and it makes that decision so much harder because all you can think about is what if its a mild case or at the time I was asking my husband what if you or I have the condition, because of the 50% pass on rate if one of us have the condition. What if we had the condition but it was so mild that we never knew about it and then the question is am I supposed to keep getting pregnant and terminating pregnancies until I get lucky? I mean it was a horrible thing to say but he also had to understand what he was putting me through and that there are cases that are so mild that he or I could essentially have the condition and we could plausibly have a child who was just like us as well.

THere are also levels of severity with downs syndrome as well, and you can't know the severity until the baby is born. As far as one of you having DiGeorge and terminating pregnancies, if your baby had it and you decided that that was the best thing to do, you could have gotten tested to see if you're a carrier of the gene. If you were, there is always the option of having IVF and testing the embryos to make sure you haven't passed it on.

This is why most doctors here suggest you test for Cooley's Anemia (which is very common in Europe) as well as cystic fibrosis before you even start to TTC. You can be a carrier and never know...but thankfully there are blood tests (expensive ones!) that will let you know. I met a couple of women during my IVF that were going through the same process since both they and their husbands were carriers of cystic fibrosis. Until I read your post though, I had no idea about DiGeorge. If it is in fact common, maybe they should suggest tests for that too.

I'm not being argumentative btw, just conversational and I do believe that parents have the right to terminate a pregnancy if they are told that their baby will have severe health issues to the point where they won't have any quality of life, or might not live long. The thing that gets me though, is that like a PP said, a lot of the time you just can't know how severe an issue is really going to be. My heart breaks for anyone who's had to make such a decision and for you for having to discuss it, even though thankfully you don't have to act on it

I'm glad that medicine has progressed so much that we can know if there is something wrong with the baby and properly prepare for it's arrival! I had hydronephrosis from birth, but back then they didn't have ultrasounds or a way to tell...I almost died from it at age 7 when it got to a point of enlarging my kidney to a dangerous point! I had a major surgery to repair it, and other than a weird looking kidney, it hasn't left any problems.

 

[Proserpina]

TMonster ~ I am really glad for your good news. It was almost 7 years ago that DD was being tested for DiGeorge, and I can't tell you how hard I prayed for the answer you just got. God didn't answer my prayers in the way that I wanted, but obviously I have a lot of hope for my daughter.

I think there is a lot that can be said about DiGeorge, but now that it's off the table for you, I'd rather not turn your support thread into a debate on the specifics of DiGeorge . So I think I'll start a "DiGeorge information" thread in the special needs forum and list resources there.

I will say that I network with a lot of DiGeorge parents, and I have yet to meet one who thinks their child is worse off than a Down syndrome child. (I guess a DiGeorge child could be worse off than a mosaic Down syndrome child, but the proper comparison to mosaic Down syndrome is mosaic DiGeorge syndrome).

I've cried every time my daughter has had a surgery, and none of her surgeries were as major as the ones your daughter will have to go through to deal with ToF, so my heart really goes out to you there. It sounds like there are some great people here who have been through that and can offer you support on that. Wishing you and your DD all the best.

 

[TMonster]

Thank you, I think starting a thread on there would be a great idea because the truth is, there is so little known about the condition.

DH has a condition called achromatopsia where he is completely color blind, has poor visual acuity, sees only out of one eye at a time (they switch so one eye is looking at you and the other is elsewhere) and has complete daylight blindness.

We got full genetic testing done before I got pregnant to make sure I wasnt a carrier for his condition because he didn't want a child to have to go through what he did.

We tested for over 700 conditions and none of them were DiGeorge. I understand DiGeorge also has a high degree of spontaneity but being a genetic disorder that is also so common I would have appreciated knowing one way or the other.

The heart procedure is extremely complex and I am terrified because it isnt just standard ToF, she has pulmonary atresia as well. There is a doctor out in CA that specializes in her specific condition and uses a technique so the baby only needs one procedure instead of 3. She will still need followups to replace the valves but flying out to CA to have the baby would be very involved.

Its a lot of research and reading and stress but to do it in one procedure means that she can start having a normal life much sooner and I don't have to deal with her dealing with all the surgical risks and part with her for weeks multiple times in the first year.

I am absolutely terrified but there is a very good chance she will be okay.

 

[Baby Birds 12]

I'm so happy to hear there are no chromosomal issues at this point. Still extremely scaring dealing with TET...even though its one of the most common heart defects, the complexity of each individual case can be rare (if that makes any sense to you!) Is there a support system for parents and children with heart defects in your area? We have T.O.U.C.H. (the organization for understanding children's hearts). There is an annual picnic where the parents and children with all heart defects get together. I have had another son with no heart issues since my oldest son was born and I am currently pregnant with twins (boy and girl) and the fetal echo has shown no heart issues. Even though your baby will have a lifetime of echos, X-rays, procedures, and cardiology appointments....children with TET go on to live happy healthy lives and even have families of their own Take care of yourself and try not to stress too much until your baby comes...easier said then done unfortunately! And as I said before, if you ever need to talk, vent, have questions feel free to message me. It's nice to have the support of other parents who have gone through or are going through what you are and eventually having your child have the support and friends of other children that have heart issues....helps them deal with their concerns. Take care of yourself!!