when in doubt, research!

I’ve been in research-mode the past several weeks–learning everything I can about tetralogy of fallot, pulmonary atresia, unifocalization surgery, genetic microdeletions, 22q11.2 ds, through reading scientific articles, awareness websites, podcasts, and speaking directly with parents of children with those conditions.

I feel ok about 22q–the symptoms vary widely and no one child presents the same way as another–so really we won’t know exactly what Kit is going to deal with until she is dealing with it. It is one of those syndromes that is far worse to google than to look at reputable sites, and most parents of children with 22q / adults that I’ve spoken to have far milder symptoms than the overwhelming 180 possible manifestations listed when you randomly google it (if you are on instagram, look up the hashtag #22qties to see some adorable 22q babies)

I’ve also learned a lot about how early intervention and one-on-one interaction can make a world of difference for her–something I am equipped and ready to do anyway as a homeschooling mom–and with her heart condition, there were many aspects of intervention we would have been dealing with either way (speech therapy, physical therapy, frequent doctor visits).

Parents tell me the hardest part is the first few years, with the countless doctor visits, health problems, surgeries and interventions. Adults say that the hardest part was being bullied in school because of speech problems and of learning differences (math seems to be a problem for most with 22q).

There are still a few books I’d like to pick up on the topic, but for now I feel fairly well informed. And honestly the most encouraging part of this diagnosis was that the geneticist was NOT negative about it and assured me that many children with early intervention go on to live normal healthy lives. Overall, I’m grateful that she has this and not a syndrome that causes death.

The heart condition is the primary concern for us right now. The presence of MAPCAS will make surgery complicated. I’ve not been able to find solid data on survival rates–perhaps this is for the better–but from what I understand complications with surgeries are a concern, as well as MAPCAS that are too small or weak to be used in the unifocalization procedure (this is where they pull all those little collatoral arteries together to make her heart pump blood to the lungs like it is supposed to). I’m hoping that at our next appointment, the doctors will see good developments in her heart…but I know that nothing will be certain until she is born and they can get a good look at what is going on in there.

Right now, our primary prayer needs are-

  1. that Kit’s heart develops in a way that the surgeons can work with
  2. that Bryan and I have peace and trust in God during this time

In the few short weeks since the diagnosis, I feel like we’ve been grieving in a way–each week finding out more bad news, uncertain whether our baby girl will live or die. We have felt a ton of support from our family, church, and friends, and are so grateful for all of you who are praying for us and Kit!

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22q11.2 Deletion (DiGeorge Syndrome)

today we got the unhappy news that baby Kit has 22q11.2 Deletion syndrome. we had suspected it, since heart defects and kidney defects are both symptoms. about 1 in 4000 babies are born with 22q, though doctors suspect the number should be higher–many people live their entire lives undiagnosed, since the symptoms can be varied and mild. most people with 22q only have some of these most common symptoms:

– heart defects (Kit has this)
– kidney defects (Kit also has this)
– cleft palate (this wasn’t visible in the ultrasound, so if she does have it, it isn’t on her lips)
– feeding issues (newborns)
– immunity problems
– low calcium
– developmental delays

And there are more issues that affect smaller percentages of 22q kids (hearing problems, anxiety, bad at math, etc). From what other parents of 22q kids have told me, it isn’t worth it for me to research all the different things that could be wrong, but I should just take up her issues as they / if they come. The heart defect is certainly issue #1 for Kit, and by far the most threatening.

The geneticist i spoke with today said that early intervention–speech therapy, occupational therapy, physical therapy–is tremendously helpful with these kids and most symptoms of 22q are treatable and that most 22q kids go on to become functional members of their families and society. as daunting as it is to know that baby kit will have so many hurdles to face, i have a lot of hope for her as well.

if you are interested in learning more about 22q, I feel like this video from the 22q foundation sums up what I’ve gathered is the most common experience of kids with 22q.

 

i carry your heart (i carry it in my heart)

The Sunday after Kit’s diagnosis, I knew I’d gone out around other people too soon when I found myself wondering if the black dress I wore to church that day would be the one I wore to her funeral.

Being pregnant with a baby diagnosed with a life-threatening medical condition is an odd purgatory of a position—moms who have had miscarriages come up to give me their miscarriage comfort though she’s currently kicking hard in my womb, and moms of babies who turned out just fine but spent so and so much time in the NICU come up too to try to understand. I know they all mean well and I really truly do appreciate the prayers and sympathy, but I know I don’t really fit anywhere except with other “heart-moms” right now, and it is hard to talk about in person.

I have lost, but not totally—just lost the idea that any of this is going to be easy, that welcoming Kit into our lives will be a seamless transition like it has, for the most part, been with the other girls. Here I thought the roughest adjustment I’d have to make was if we had a boy! Instead I find myself oscillating between planning a funeral and decorating a nursery (heart themed, of course).

The week that has followed Kit’s diagnosis has been one of learning too much at once and crying. I ache when I think about handing over my newborn baby for doctors to cut open for surgery. Knowing I won’t get to hold her and feed her like my other girls, that she won’t come home in a day or two when I’m up and around, like my other girls. Before the diagnosis, so much of getting ready for labor and delivery is all about The Mom–birth plan, preferences, ideas of how things should go. I can tell you that gets pretty quickly tossed aside when you are worried if your baby is going to live or die. I have a space in the notebook–the enormous full of too much information notebook that I got from the hospital–where I can write my birth plan. My birth plan: Keep Kit Alive.

I’ve found some support groups—they are small, since Kit’s condition is rare. 1 in 100 have a CHD, 1 in 2000 have Tetralogy of Fallot, 1 in 7,700 have TOF with Pulmonary Atresia.  God chose very specifically to give her to us—maybe coming into a loving family with my four “little mamas” to help take care of her is exactly what God knew she needed. Maybe God prepared us to face this sorrow in many ways that we did not realize and will not realize until the time is here.

I have trouble sleeping—waking up with my heart pounding, a stream of worry and restless thoughts. What if she’s inoperable, if she catches infection, if she has a heart-attack suddenly and unexpectedly. What if the most comfortable and pain-free she ever is in her life is while still in the womb.  Everything about her condition is complicated and we can’t know what to expect, at least not yet. As much as I dread the next appointment, preparing myself for more bad news, more boxes of tissue set in my lap, I also long to know more, to steel myself against the impending storm.

My next appointment is right before Valentine’s Day. Bryan will come with me, and we will have a heart echo for baby Kit, an ultrasound, and meetings with the high risk OB/GYNs. I have a list of questions but at the top of them, I plan to ask the ultrasound tech to let me see Kit’s face. Not to look for anything wrong, anything that needs fixing or indicates more problems—just because I want to see my baby girls’ perfect little face.