First week of testing in the books

So the thing about Trisomy 9p Syndrome is that it can (and usually does) come with a host of health complications. The big ones seem to be growth issues, low muscle tone accompanied with difficulty with movement and mobility, seizures, heart conditions, incontinence, and spinal cord problems.

Sproglet's doctors ordered us some tests so that we can get an idea of how she's faring; to try to detect any issues that we may have missed thus far (because she's been the picture of health since birth, besides the slow motor development).

We had an EEG to look for seizures this week, and met with a cardiologist to do an EKG and and Echo- basically checking her heart for holes and to make sure it's ticking away.

The EEG was tough for Sproggy. First of all, she needed to be sleep deprived for the test so that they would be sure she'd fall asleep during the test, to compare her brain waves asleep to her brain waves awake.

Do you know how to keep a 5 month old awake when she really wants to sleep? 'Cause I sure as hell don't.

Luckily the techs told me to try to prevent her from napping that morning rather than actually depriving her of a night's sleep. So instead of risking a nap in the car on the way to the hospital, I packed her into the car bright and early and sat her in the busy lobby and cafeteria of the hospital for 5 hours so she could "socialize". I'm glad to say it worked.

Her Occupational Therapist also came and hung out with us for an hour, which helped pass the time. Sproglet loved the attention and ended up making some friends in both the cafeteria and the neurology waiting room while I chugged coffee and attempted to look happy to be there.

What I'm trying to say is that the 5 month old was a lot less cranky about the whole test than her 37 year old mother.

Well, at least until they started hooking up the machine. Hundreds (ok, slight exaggeration, but a LOT) of little electrodes were attached to her head and secured with a gauze bandage. At this point the poor kid was exhausted and annoyed by the constant poking, prodding and moving. But eventually the tech finished and she was allowed to relax and nap.

We're still waiting on the results.


ONTO CARDIOLOGY

So Thursday was a bit easier in cardiology. They did an EKG to check her heart rhythms (all good) and and Echo-Cardiogram to look at her heart from all angles, to be sure there weren't any holes or other concerns. All clear!


So... I'm feeling pretty good this week, anxiety wise. Sproglet passed some stressful tests and we don't need to worry too much about those potential complications.

I will say, though, on another hand (because let's face it, even if she's physically healthy, she still has an extra chromosome and I have to accept that).... I dropped her off at daycare today and plopped her down next to another 5 month old baby.  It is becoming more apparent to me that Sproglet is, in fact, pretty significantly delayed. The other baby was sitting up in an exer-saucer grabbing at toys and trying to put them in his mouth and making happy shrieks that burst my eardrums. Sproglet was sitting quietly in a bouncy-seat, her hands held close to her body in fists, not making much noise but smiling sweetly at her teacher. Now, is that just her personality? Probably, yes, partly. But putting her next to a peer (actually the kid in question is about 2-3 weeks younger than her) does remind me that she is delayed. There's no shame in that for me, it just is what it is.

And chances are that once she gets going in Early Intervention, she'll catch up. At least, that's the hope.

Anyway, I think that's just the way of things with a Special Needs kid. You're psyched about the good stuff but ache over the sad stuff. The yin and the yang.

What this diagnosis actually means

So, what does this diagnosis actually mean?

Short answer: we don't know.

This condition appears to affect each individual differently. Infuriatingly so. It would be so much easier to have a definitive list of what we can expect. Still, in the short time I've had to research T9p, I can say that most people with the condition experience similar symptoms:

* developmental delays (ranging from mild learning disabilities to full-on intellectual disabilities)
* joint problems (like hip dysplasia) and underdeveloped bones
* facial characteristics like broad nose bridges and larger ears, and downturned eyes
* tethered spinal cords
* speech delays or complete non-verbal communication
* seizures
* heart conditions

There are more but those seem to be the most common. Sproglet does present some of these in varying degrees (the hips, the underdeveloped bones and the spine thing are the big ones). My biggest concern at this stage is the intellectual disability. But honestly, if you look at my baby, you see a bright eyed, curious little girl who loves to connect with and chat with every person she comes into contact with. Honestly, I've seen more strangers just crack up in delight whenever they look at her, and she looks them straight in the eye and emits the loudest and most adorable "SQUEEE!" sound. She really knows, at 5 months, how to make complete strangers feel like the most important person in the room. She's displaying a skill set that most adults don't have at an incredibly young age.

She's also keen to learn. As of this writing, she's learned to roll from back to front. So she has the capability to learn; albeit maybe a bit slower than her peer group.

So my plan?

Just keep on keepin' on. She started with Early Intervention this week; they will work with her on developing skills like communication, muscle development and learning.

This week she's undergoing neurological testing to get a baseline on brain activity, so that if she ever experiences seizures, we'll know what to look for. Same goes with cardiology- they'll be looking for holes in her heart or any other weird heart conditions that we'll need to be aware of.

And later we'll get and MRI to determine what needs to be done, if anything, for her spine.

I admit, I still have moments of self-pitying emotions. Why my kid? I hate to think she's going to have challenges. But then I remember: EVERYONE  has challenges. There are worse things than having or being a child with a genetic abnormality. Way worse. WAY, way worse.

I read this quote last night right before bed that struck me:
"Motherhood is about raising and celebrating the child you have, not the child you THOUGHT you would have. It's about understanding that she is exactly the person she is supposed to be. And that, if you're lucky, she might just be the teacher who turns you into the person you're supposed to be."

Damn, I'm crying again.


I'll update again after Sproglet's appointments this week.

'Til next time.

Immediate aftermath OR selfish inner workings of my mom brain

Trisomy 9p Syndrome. 

OK, wtf is that?? It sounds scary. I thought about Trisomy 13 and Trisomy 18 and Trisomy 21... all disorders I'd been screened for very early in my pregnancy and was considered low risk. So why is the word Trisomy coming into this conversation?

So Trisomy, in simple terms, means "three chromosomes" where we are only supposed to have two. "9" refers to the 9th chromosome, and "p" refers to the top, or "p" arm of the chromosome. 

So somewhere close to conception, Sproglet's DNA went a little bit haywire, and made two of every chromosome (including XX!) except her ninth, which partially duplicated and now three 9th chromosomes exist in every cell in her body. No, we don't know why. It just did. I've definitely blamed myself from every angle but have been assured over and over by people WAY smarter than me that this wasn't a result of anything I, or Dad, did. Maybe there's a hereditary link, and we're going to be tested for that, but it's not something that could have been caught before Sproglet was conceived.

OH GOD WHAT DOES THIS MEAN?

Here's where I tell you something fun about me. I should have told you sooner, but the subject didn't come up. I'm... ANXIOUS. Like, really anxious. Anxiety disorder-level anxious. While I don't treat my anxiety with medication at this point in my life, I can go from 0-60 on the anxiety scale faster than mankind has capability of recording. Really. I mean, I'm a whackadoo.  So here, I will try to transcribe the thoughts that went through my head as our kind genetics Doctor shared pamphlets and photos of what our daughter's condition looks like.

"Oh fuck oh fuck oh fuck. Some of those people look profoundly disabled... People are going to be mean to her. Kids won't let her play with them and she'll be hurt. Oh shit, there's intellectual disability as well? So maybe she won't be hurt by other people being mean to her because she won't have the mental capacity to understand. So that's positive. No, wait, that's incredibly sad and depressing and oh God, she's not going to be the daughter I expected to have. Wait wait wait... limited mobility, did she say? Shit, we need to build a ramp on the house. Or maybe we should sell the house and buy a one -level house that already has a ramp. And she'll probably need a service dog! Oh, that's cool, I've been trying to convince Hubs to let me get a labradoodle, now he'll have to say yes. Do we need a passenger van? I hate those things, they're so annoying to get stuck behind on the road. Shit shit shit shit shit shit. A lot of people with this condition can't use the bathroom by themselves. Like, adults. Holy shit. Holy shit. Holy shit. Do we need a group home? My mother died at 60, only 23 years older than I am now. If I die at 60, Sproglet will only be 23 years old, I can't die that young and leave her.  Why did I smoke all those years?? Ok, mental note to call our lawyer and figure out how to amend our will. And what about her Big Brother?? He can't be expected to care for his sister forever. I don't want this overshadowing his childhood. At least he'll probably get married and have children, even if Sproglet can't. Shit, am I a good enough mother to deal with this? Is our marriage strong enough to deal with this? How are we going to break this news to our family? Etc etc etc etc etc...."

And this is where the geneticist looked at me and said, no joke, "You're really taking this well!"

So I guess I've perfected my poker face over the years.

Anyway, luckily, my Hubs is an incredibly rational, linear thinker. I'm guessing his inner-monologue went something like this:

"Ah, I detect a problem. I think this problem can be tackled in 5, no maybe 4, relatively easy steps. I can probably build a ramp if necessary and I'll write to Porsche and see if they'll modify a Turbo 9-11 to accommodate a wheelchair."

Thank God for him, he was able to talk me down. I'm sure he once again questioned how he managed to saddle himself with such a histrionic woman, but whatever. I make delicious cakes for him  sometimes so it evens out.

Up next: WHAT THIS ACTUALLY MEANS

Meet the Geneticist

We have the incredible fortune to live in Boston, a city with some of the very best hospitals in the world. Among these is Boston Children's Hospital, a facility that continuously earns top marks in pediatric medicine, and performs cutting-edge treatment for nearly every possible problem. Really, it's amazing. I've always loved Boston, it's my home, but now experiencing it from the point of view of a parents who needs her child to be looked after with the utmost medical care... dude, I just can't even express how fortunate and grateful I am.

Anyway, when Sproglet was about 4 weeks old, we were referred to a Geneticist and and Orthopedist at Children's Hospital.

The Orthopedist noted that Sproglet's hips were not connecting to the joints properly, a condition known as hip dysplasia. It's not an uncommon condition, but usually there's a *reason* for hip dysplasia- a breach birth, for example. Sproglet was not breach, so that was a big Shrug- but he put her in a Pavlik Harness, which would force her hip bones back into the joints over time and correct the dysplasia.

Sproglet also had double-jointed fingers on both hands, which turned out to actually be underdeveloped finger bones. The doctor murmured something about possible surgery on her hands at some future date, but noted that, at her very young age, they wouldn't do anything until she grew a bit bigger.

OH I almost forgot! Cripes, we had so many appointments with specialists it's hard to remember all of them. Sproglet also was referred to neurosurgery due to a sacral dimple at the base of her spine. I was convinced she had Spina Bifida, but was reassured by the young surgeon that was NOT the case. He was, however, concerned that she might have a Tethered Spinal Cord which would likely require surgery. He asked us to get an MRI when she turned 6 months old, at which point we'd have a better idea what was the story (morning glory).

Onto Genetics!

The geneticist was pretty certain, after examining Sproglet, that there was some sort of chromosomal abnormality that she was dealing with. Looking at the evidence of her hips, loose shoulder joints, malformed fingers, wonky spinal cord, plus some facial features- like, her eyes were juuuuussst a wee bit far apart...not so much that you'd notice anything amiss, but I guess according to science and medicine, her eyes were set wide apart. OK. The Geneticist thought we might be dealing with Larsen's Syndrome, a condition I knew nothing about. It's characterized by musculo-skeletal issues, mainly double jointedness, and can have some difficult side symptoms like deafness. So we sent out those blood tests and waited for the results.

Six weeks later we were back in her office only to learn that she was negative for Larsens. Good news, I guess, but then what does she have? Geneticist send out a test called a microarray that would look at Sproglet's individual chromosomes and would tell us if anything was amiss in that regard. 

Six MORE weeks later, we returned. Sproglet was now 5 months old and had experienced some minor delays in reaching certain milestones. She would hold her (teeny tiny adorable) hands in fists, very rarely opening them up. She wouldn't reach out or toys, wouldn't attempt to hold a bottle or roll over. She seemed ok otherwise, was (and IS) super bright and social, so I wasn't too worried about the test results.

Trisomy 9p Syndrome. To be continued....

The lead in

First, a little background.

Sproglet emerged into this fine world in April of 2016, after a relatively comfortable and wonderful birth. My pregnancy had been fairly routine, although being of "Advanced Maternal Age" at 37 (fuck you, medical community), I'd undergone lots and lots of testing juuuust to make sure that everything was ok.

I had a Panorama scan at 13 weeks, a non-invasive test that they now offer to moms over the age of 35 to determine the risk of genetic abnormalities. I really wasn't particularly worried about the outcome of this test, in fact I was more excited by the idea that it could tell us our baby's gender at 12 weeks gestation (I'd been hoping and praying for a girl for some time). So when I got the call that my results had come back low risk, I was happy but WAY happier to call Hubs and tell him "We're having a girl!"

So that was all good. Still, I had to undergo further testing. Docs offered me additional, more invasive testing, like and Amnio or CVS just to further underline the "It's all good" results from the Panorama, but I demurred, since I figured the outcome of these tests wouldn't change my plans. I'd experienced at least two miscarriages prior to this pregnancy, and I guess in a sense I figured that this was my final attempt at giving Offspring a little sibling. If this fetus wasn't 100% healthy, well, we'd deal with it. Plus I didn't want to risk any further miscarriages by performing invasive tests.

Docs agreed and we just settled on working with Maternal-Fetal Medicine for high risk (ahem, *elderly* pregnancies) with lots of ultrasounds.

First few ultrasounds were pretty fine. Heartbeat nice and strong, with the baby growing as she should have been. Until my 20-week scan, where the doctor came in after the appointment to have a chat. My heart jumped into my throat as I flashed back to the October 2014 appointment, where the attending radiologist said the words "I'm sorry, we don't have a heartbeat anymore"...

I was semi-relieved when this doctor said "Everything looks good, with one exception. We can't see a nasal bone. Normally this would be cause for concern as this is a "soft-marker" for Down Syndrome, but because your Panorama test shows such a low risk, we're just going to assume the baby is at an awkward angle. Come back next week and we'll try again." Next week, still no nasal bone. Everyone just shrugged. At this point I started to think "Hmm.. something is wrong. I don't know what, but this feels off." But because we didn't have a diagnosis, we just carried on, watching her grow steadily and kicking the crap out of me from within. Yes, I had nightmares that my baby might be born looking like Voldemort.

Somewhere around week 28 or 30, we had another in depth scan. This time the doctor reported an enlarged ventricle in baby's brain... not too enlarged, but enough that he noticed. Another marker for Down Syndrome. At this point I decided that I had fallen into the teeny, tiny percentage of moms whose genetic testing just went off the rails. I started looking into raising a child who has Down Syndrome. I cried a lot but was buoyed by the words of parents who swore that, despite their initial fears, they'd learned that a child with Down was a privilege. I read the "Welcome to Holland" essay and talked to other moms, just trying to prepare for...I don't know, *something*. Down Syndrome, Edwards Sydrome. I didn't know what, I just had a sense that my kid was going to be born with something that set her apart from other kids.

So, after all that, nine (really ten) months of emotional rollercoasters, raising a 4 year old and preparing him to become a big brother, dealing with his own diagnostic challenges (nothing big, just sensory processing disorder), worrying about the new baby but feeling so much happiness whenever she landed one of her kicks/punches/headbutts to my kidneys/stomach/bladder, she came flying into the world in all her yucky, sticky, bluish glamour.

Really, I can't talk up my labor with her enough. It was awesome. I'd been hoping for a VBAC (vaginal birth after c-section), and I got my wish.  It was great- I was joking with the nurses, I had my deceased mom's picture on a ribbon around my wrist. Van Morrison was playing on the iPhone. Hubs and best friend let me watch cat videos in the delivery room.

I'd labored a bit at home, then was checked in and had an epidural, got some sleep, and pushed her out in 33 minutes. The delivery team almost didn't have time to get set up before she was here.

It was just the best day. So happy. And she was adorable!

Nothing was noticeably wrong with her- not that I was even thinking about that. Once they told me she was healthy, all I could do was enjoy the high from those crazy, fabulous oxytocin hormones. We did notice that her pinkies seemed double jointed, but all the doctors would say about that was "Huh. Maybe have an orthopedist look at those."

Her pediatrician, at her first appointment after birth, referred us to a Geneticist at Children's Hospital, which is where Sproglet's story has a little plot twist!