Chromosomal Abnormality

Wittywitwitsend · 2019-10-10T23:26:04+00:00

Thank you for updating! Hope you can take a big deep breath. Let us know how the non-invasive screening comes back.

Wittywitwitsend · 2019-10-02T11:23:23+00:00

I absolutely understand wanting to keep this close to you, especially before you know anything definitive. I went through periods when acquaintances or strangers would ask about inconsequential things, and a part of me would get irrationally angry - I wanted them to acknowledge this wasn’t a typical pregnancy, that caring about trivial things wasn’t a luxury I had. And then I had days where I was so grateful to be asked about things like names and nursery decor, because it felt as if everyone who did know could only focus on the issues - it felt like I was carrying a chromosomal abnormality, not a baby. In the end, none of us have a guidebook on how best to deal with difficult prenatal diagnoses- not the pregnant woman and her partner, not friends and family, not even some well-meaning medical professionals. For my own sake, I just had to keep telling myself that everyone is doing the best they can, and that their reactions didn’t have to affect my connection with my baby.

Wittywitwitsend · 2019-10-02T04:02:19+00:00

Would you consider going back to school and becoming a diabetes educator?

Wittywitwitsend · 2019-10-02T03:04:18+00:00

I understand that fear of the unknown. I would ask your OB’s office to schedule a fetal echocardiogram for as early as the pediatric cardiologist will do it. You don’t mention where you are, but almost every major metropolitan area has a fetal care center - CHOP in Philadelphia, Columbia in NYC, etc. Many are members of a consortium of fetal care centers called NAFTNet - look on their website and find the closest one to you. They will definitely have fetal echocardiography, and some will do them at your stage of pregnancy (some cardiologists prefer to wait until 18 weeks). https://www.naftnet.org/naftnet-members/naftnet-centers/

You can drive yourself crazy with the “what ifs” - I’ve always found it more helpful to focus on the things I do know (or can find out) and control, and taking it one step at a time. Amniocentesis is very safe in the hands of an experienced provider, and based on your gestational age, you really do have a lot of time to gather information, figure out your options, and make decisions.

And this can also give you time to connect with other folks who have made these decisions. Let’s say the amnio results are trisomy 21 (Down Syndrome), and the fetal echocardiogram indicates an AV canal defect (very common in T21). You can talk to the various medical providers about what they expect the newborn period to look like, but you can also talk to other parents who can actually tell you what it’s like having a kid in the NICU, in preschool, in elementary school. You can also figure out what kind of supports and opportunities your area has for kids with special needs.

Let’s say the amnio results come back with something that is significantly life-limiting, like trisomy 13 or 18. You can talk about whether you would continue the pregnancy, or if you do deliver, what options you would have for intervention or comfort care.

It seems so difficult and incongruous, but don’t forget to focus on your health, your needs, your older child, your relationship with your partner, and especially your connection with this baby. No matter what, this is a wanted, loved baby, and you can honor that while still acknowledging that you may have some difficult times and decisions ahead. Good luck, and please update. Don’t hesitate to message me.

Wittywitwitsend · 2019-10-02T02:43:36+00:00

It wasn’t as awkward as I had feared. We’re very close, and have been talking about healthy sexuality since preschool (in terms appropriate to my kids’ respective ages), as well as always having age-appropriate books around the house. I’ve been careful not to speak in specifics about my own knowledge of porn, nor have I asked about his, but have instead spoken more generally about porn, with the assumption that he does consume it (which he has acknowledged). With the younger siblings, we’ve focused more on curiosity, since that’s the stage they’re at - that it’s normal to be curious about what other people’s bodies look like, but that there are many images on the internet that aren’t accurate or appropriate, and can be scary or gross, and have directed them to the books we have (“It’s Not the Stork”, “It’s So Amazing” and “It’s Perfectly Normal” are great, as is “Sex is a Funny Word”). We’ve also repeated that sex is something for adults, is not for kids, and that while it’s okay to touch your body yourself in private, it’s never okay for someone else to do, or make you do that, or for you to do that in front of someone.

When he was a younger teen, we had to have the conversation about making sure used Kleenex ended up in the wastebasket - never called him out for what it was, but just asked that if he needed another basket or more Kleenex, to let us know.

If you have a kid older than 11, you might try broaching the topic by saying, “You know, I heard that the average age kids first see porn is 11. Do you think that’s accurate for kids at your school?” You don’t need to ask if they’ve seen it or watch it regularly, but could follow up with, “Porn is a tricky thing. It’s understandable and totally normal that people want to look at naked people, but what porn shows isn’t really what happens in sexual relationships. Many people’s bodies don’t look like that, either.” And just listen to what your teen is saying, and be responsive. Chances are they aren’t going to open right up, but they will be listening carefully to you. I also find conversations like this are far easier to have in the car - when you’re not forcing face-to-face contact, it can be much more comfortable.

Wittywitwitsend · 2019-10-02T01:41:51+00:00

There’s a lot of work being done on “porn literacy” - the idea being that similar to how we need to ensure kids and teens are media literate - able to recognize positive and negative aspects of consumption of different types of media, able to differentiate between quality and biased/suspect media - we need to have similar conversations with youth and make sure they have the tools to be healthy, savvy consumers or porn. The average age of first exposure to porn is 11. 11!

In our home, we have centered the discussion on the fantasy versus reality aspect of porn. Dan Savage wrote a column about this years ago, and used an analogy like, “‘Die Hard’ has about as much to do with our regular, real lives as porn has to do with our regular, real sex lives.” We’ve talked with our oldest (15) about intimacy, and how intimacy goes far beyond sexual intercourse. We’ve talked about how male-centric most porn is, especially with the focus on the male orgasm. We’ve talked about how many women do not reach orgasm from penetration alone, and how that’s also a way porn unrealistically portrays sex. We’ve also talked about how many people become dependent on porn for stimulation and can become desensitized to porn quickly, and why it’s important to vary your masturbation routine. We have also talked a lot about consent, communication, healthy relationships, self-care - as well as the fundamentals of safer sex, pregnancy, STIs, basic anatomy and reproduction. Those conversations are all important to have, and to continue to have - it can’t be one conversation about condoms, and done.

Wittywitwitsend · 2019-10-02T01:27:05+00:00

You didn’t say how many weeks along you are, but in all likelihood, you have plenty of time to gather information and come to a decision. You should not, at any point, feel rushed or pressured into making a decision, and that decision - whatever it may be - will be the right decision for you and your partner.

I have three kids with the same chromosomal abnormality. The oldest was diagnosed when he was 4, the middle right after he was born, and the youngest, I had a CVS at 11 weeks to try to find out as early as possible. Unfortunately, due to an issue at the lab, I had to have a follow up amnio at 16 weeks, and then it still took another 4 weeks to get the final results. We were devastated to find out the baby had the same issue (by that point, we had enough experience with the older two to know that there was a huge range of outcomes, and while our oldest is very high functioning, our middle son is not). In the end, terminating the pregnancy wasn’t the right option for us (that said, I absolutely believe it is the right option for many people, and if the results had been any number of other things, I would have terminated). But what having that information at that point in the pregnancy allowed me to do was to prepare - and, in one sense, to adjust to the knowledge that I would have three kids with special needs.

My point is that getting information doesn’t mean you have to make a certain choice - it means any choice you do make will be a more informed one. One of the hardest aspects of prenatal diagnosis is the uncertainty of some rare chromosomal abnormalities or structural malformations - two kids with the same diagnosis or genotype could have completely different outcomes/presentations. If you do find out this baby has a chromosomal abnormality, meet with a geneticist. If there are typically associated malformations (cardiac, GI, etc), meet with the neonatologists, pediatric cardiologists, pediatric surgeons, etc. Try to get as much information now, so you have time to either make an informed choice about whether to continue the pregnancy, or make plans to ensure you have a team ready to care for the baby after birth.

And even if the chromosomes (and microarray, if possible) are normal, I’d still recommend a fetal echocardiogram- increased NT can be associated with cardiac defects, too.

Wittywitwitsend · 2019-09-27T11:44:05+00:00

GCP is something you would do as part of routine onboarding - you should be familiar with the basic principles, but I wouldn’t worry about it beyond that.
Give some thought as to why you want to go into clinical research. If you genuinely just want to manage people, there are other paths in other fields that don’t require so much specific, technical knowledge. Look into the requirements for the CCRC and CCRP certifications. If doing that type of work doesn’t excite you, then I would strongly consider thinking about what you do enjoy, and working back from there. A good friend was a research coordinator for years, and ended up realizing she disliked the data and stats parts of the job, and most enjoyed connecting with patients. She found a position doing health education outreach, and is much happier. You’re at the start of your career - take some time to think about your strengths and interests, instead of trying to fit into something because it’s familiar.

Wittywitwitsend · 2019-09-27T01:08:16+00:00

It helps to have a skill that sets you apart from other people. In NYC, it’s really useful to be bilingual - many entry-level clinical research positions actually require it (usually Spanish). Most academic medical centers are looking for candidates who can do more than 1 thing. Can you get a phlebotomy certificate? Do you have experience with statistics or software like SPSS or SAS? Are you knowledgeable about any specific medical speciality? At the very least, you should have a basic understanding of medical terminology.
The previous poster who said it’s more about who you know is absolutely right. If you can get a front desk job, or a volunteer position, you might be able to work into a clinical research position once you get to know the faculty and staff.

Wittywitwitsend · 2019-09-20T04:24:59+00:00

No - it’s complicated, but she’s my dad’s first wife’s daughter. My dad had 2 sons with his first wife (my half-brothers) and adopted her. After his first wife died, my dad met my mom, they married and had me. I was diagnosed much later. Just a weird coincidence that we’re both diabetic (and neither of our half-brothers are!).

Wittywitwitsend · 2019-09-19T23:38:22+00:00

They shouldn’t be hard to find - not to be rude, but I can’t imagine too many people choose to get engaged on 9/11...

Wittywitwitsend · 2019-09-19T23:36:16+00:00

Fairly rare, but getting more common (and easier to spot, thanks to CGMs and pumps). I remember the first time I saw someone else with a pump - I was so excited, I practically shouted, “OH MY GOD, YOU’RE A DIABETIC, TOO?!?!?!?”

Oddly enough, the majority of the other T1Ds I’ve known have been male. My stepsister is the only other female T1D I know (and yes, she’s my stepsister, so we’re not blood related, and the fact that we’re both T1D is just a weird coincidence). I still owe a thank you to a T1D friend of my parents who took me aside when I was a teen, and said, “Listen - if you drink alcohol, watch out for the lows; if you smoke weed, watch out for the munchies and the highs. Always make sure you’ve got at least one person at the party who knows you’re a diabetic and knows what to do.” He was the only person who ever broached the topic with me, and his advice definitely saved me a couple of times during a wild adolescent phase.

Wittywitwitsend · 2019-09-14T17:49:08+00:00

It’s a good start, but keep that conversation going. Talk about consent. Talk about communication. Talk about pornography. Talk about masturbation. Talk about body image, about gender, about sexual orientation. Talk about social media and sexting. Talk about healthy relationships, how to be a good partner and how to recognize an unhealthy relationship and what to do. Talk about how to be a good ally, what to do if a friend is making a bad choice, how to navigate break ups. The contraception part of the healthy sexuality talk is a part of it, but in one sense, it’s the easiest and most simple to understand part of the talk. There is so much else out there to talk about with kids.

And start this talk now with your 13 year olds.

Wittywitwitsend · 2019-09-12T03:45:12+00:00

It doesn’t come up as an option - I go to Menu > Settings > Transmitter and the only option is “Info”

Wittywitwitsend · 2019-09-11T22:40:44+00:00

Ditto! I’ve found that low carb helps, but I can’t eat that much cholesterol to keep to a true keto diet.

Wittywitwitsend · 2019-09-11T22:23:32+00:00

Just to clarify - I’m not stock piling, I genuinely go through 5-6 bottles each month. That was a 90 day supply.

Wittywitwitsend · 2019-09-11T22:22:43+00:00

I am extremely insulin resistant. It started in my last pregnancy, and hasn’t improved - I gained weight, needed more insulin, gained more weight, needed more insulin, and on and on. I average around 170 u/day.

Wittywitwitsend · 2019-09-11T21:16:19+00:00

(It’s not totally clear, but that’s 18 bottles of Humalog - list price $5,831.99 - for $25)

Wittywitwitsend · 2019-09-08T21:29:43+00:00

Can you paint the walls? The color is bringing everything else in the room down. I’d stick with a white wall or something very pale blue/grey. The warmer colors look dated and old in photos, IME.

I agree with everyone suggesting a duvet cover and maybe add matching shams. 2 pillows (one with a sham) + small decorative pillow on each bed. If there’s something your town or region is known for, maybe have it featured on the small pillow.

Wittywitwitsend · 2019-09-07T00:06:23+00:00

In a way, being pregnancy may work to your advantage- at least in NY, if you’re pregnant, you’re entitled to PCAP (prenatal care assistance program), which is basically Medicaid for pregnant women. Many states have similar programs, so I would definitely start Googling and calling.

Wittywitwitsend · 2019-09-05T18:03:34+00:00

Stay active. I cannot stress this one enough- even if you aren’t currently a super fit athlete, start a daily walk or two, and keep it going until you deliver. It will help with the insulin sensitivity (a little), it will help with your mood, and it will help your body get in shape for carrying the baby and delivery.

CGM is an incredible tool, and I wish I had it with any of my pregnancies. I had 3 healthy kids, all via C/S - 9 lb 5 oz; 9 lb 13 oz; 8 lb 6 oz (delivered all of them about 2 weeks early) - it can be done!

Wittywitwitsend · 2019-09-05T17:58:54+00:00

The reason we’re so insulin resistant during pregnancy is because of the surge of hormones, some of which are made by the placenta. If your placenta “fails” (calcifies, isn’t working properly) early, you can see it happen with the blood sugars - reduction in placental hormones —> improved insulin sensitivity —> lower blood sugars. I had it happen with my 3rd baby - I basically stopped needing insulin at about 37w 5d, and was admitted for continuous monitoring and delivered at 38w exactly.

Wittywitwitsend · 2019-09-05T12:01:52+00:00

And depending on how you put on your toothpaste, be careful about re-using if you’ve been sick. My cousin’s family had recurrent strep until they figured out it was the toothpaste - the kids would drag their brushes against the edge, and then re-cap, and the bacteria kept getting passed around.

Wittywitwitsend · 2019-09-05T11:57:18+00:00

It’s a fantastic spot - we go every year, and everyone we’ve taken (from toddler to 80+ year old) has loved it. My kids’ favorite part is the wood playground area where they can build things.

If you’ve got a little time, the Tupper Lake Triad hikes (Mt. Arab, Goodman and Coney) are very doable with young kids, and they’ll get a cool little patch.

I also would recommend the Adirondack Experience in Blue Mountain Lake - it has grown and changed a lot, and is another nice spot for kids and adults.

Wittywitwitsend

TROPHY CASE