22q11.2 Deletion Syndrome

Seriously?! My kid is this cute?!
Photo from Something Blue Images

Warning: This probably should be two separate posts but oh well, this is how I wrote it!

Ahh yes, the elusive 22q Del. I've got to say one of the things that annoys me about this disorder is the confusing aspect of the name. It's kind of like how a square is technically a rectangle but a rectangle is not necessarily a square. All kids who have Velo-Cardio-Facial Syndrome (VCFS) and DiGeorge Syndrome have 22q11.2 deletion syndrome, but not all kids with 22q have both VCFS and DiGeorge. Ruby, for example, does not have DiGeorge because she does not have calcium or immune problems as of yet. She does have VCFS, however, because she has suspected palate issues (velo), several heart defects (cardio), and characteristic facial features that are associated with people with VCFS. Does all this make sense? Probably not, so let me confuse you some more...

Originally people who presented a specific set of problems were diagnosed with having either VCFS or DiGeorge. There are also Shprintzen Syndrome, conotruncal anomaly face syndrome, and a whole bunch of other diagnosis, but for the sake of simplicity (yeah right) we'll stick with VCFS and DiGeorge because those are most commonly, and often mistakenly, used to describe people with 22q del. So back in the day, people were said to have one of these diagnosis. But as medical science advanced it became possible to detect malformations in people's DNA. Whether or not someone had a duplicate or deletion of a chromosome, or portion of chromosome, became possible to detect. And so it was discovered that all of these people diagnosed with VCFS or DiGeorge in fact had the same micro-deletion on their 22nd chromosome. Want to hear this from a source that can probably explain better? Click here. (And If I have any of this info. incorrect please let me know and I will change it)

Why am I telling you all of this? Because sometimes it drives me CRAZY! I'm a stickler for some things and I don't like people saying things are one way if they are another. Obviously I am very forgiving of newcomers to all of this, but it is so frustrating to hear medical professions not know ANYTHING about what Ruby actually has. So doctors, *ahem ahem, cardiologists* Ruby has VCFS which is how her 22q11.2 del presents itself. Please get it straight and know the difference. And while I'm on it...I'm sick of hearing the medical community refer to Ruby as her disorder. She is not "tetralogy of fallot, pulmonary atresia, VSD, and MAPCAs" or "VCFS." She has these medical conditions, but please get it right and put the child before the diagnosis. THANK YOU!

Ugga-Mugga :)

Thought I was done? Got ya! All of that (which turned into a giant ramble) was meant to lead up to the story of how we found out that Ruby has VCFS. So here we are...It was probably Ruby's 3rd or 4th day at CHOW, and we were still feeling our way through becoming parents in a NICU. The day before, the doctors had convinced us to do a spinal tap on Ruby because she had clusters of bacteria growing in a blood sample they had taken. At the time they told us they needed to do the spinal tap so that we could have same day results...we later found out that was a lie and that we wouldn't have the results for several more days. By that time the clusters had grown enough to show that the sample was merely tainted. It was around this time that our trust in some people at CHOW began to waiver. Anyway, it was the day that we were told of the spinal tap results that we also found out about her diagnosis of VCFS.

In days prior to this, Dan and I had spent time on the internet (which can sometimes be a curse you know?) and had found out every awful thing about DiGeorge Syndrome was. This is what the cardiology staff call all forms of 22q del, so that was the only term we looked up. It's not that DiGeorge Syndrome is all that much worse than VCFS, and many websites lump all of the info. together anyways. But either way what we came up with in our frantic Google-ing was, of course, worst case scenario stuff. Like severe cognitive delays, hearing loss, vision impairment, schizophrenia, and about 100 other things as well. I have worked with many children and adults with disabilities so I'm no stranger to this stuff...but I kept thinking "not my child."

To sum, by the time we found out about Ruby's condition we, especially me, had worked ourselves up into a paranoid fit. But I was still pretty numb. I just kept thinking, "she can't have it, she can't have it." And for some reason I felt like the heart thing wasn't that bad, but how could she deal with all of this other crap on top of it! So I was really hoping against hope she didn't have it. But she did and here's how we were told (approximately):

Doc: walks in room while looking at chart "Oh hi there, I just wanted to let you know that Ruby's spinal tap came back negative for infection."
Us: Ruby is in Dan's lap, I'm standing close to doc "That's great, so there's no infection at all? It was just contamination?"
Doc: "Yes, nothing has grown. We will continue to watch it for the next few days just to be sure."
Us: "Ok, that sounds good."
Doc: "Oh, and by the way her genetic test results came back and she has DiGeorge."
Us: "What!?"
Doc: "Yes, there will be someone by later to talk about it."
Me: "What does this mean for her? Will this compromise her heart surgery? Is she at greater risk because of it? Will this shorten her life any more than her heart condition?"
Doc: "I don't really know, I'm not the person to ask about it."

Well thanks for just blurting that out without giving us any kind of real info. on it! And because of all the "research" I had done, what I heard was, "Oh and by the way, your kid is probably going to have schizophrenia, never be able to be around other kids because she'll get deathly ill, probably be deaf, and be severely delayed." And then to have no one talk us through it!? It was right around this time that I think my heart snapped in two. I kept looking at Ruby and thinking, "No, you're so perfect. How could you have this?" And I want to add here to please keep in mind I knew no one who had VCFS, I didn't know how successful and fulfilling and "normal" life could be for a person with it. I'm just trying to be honest about what I was feeling at the time, which was basically torn apart.

Me becoming "unstuck"

It was then that I lost it. I just sobbed and sobbed and sobbed. I could not stop. I think I called my mom and between tears I told her. Dan gave me Ruby to hold and I just felt awful. I felt like I was losing my child, even though I was holding her. Like all of those things that you really aren't supposed to put on your kids but you do anyway, were slipping away. She'd never get married, never have children, never go to college, never be top of her class, and not have many friends because she would be slow and look different. I now know that not only are all of these things possible for Ruby but I have discovered people with 22q del who have accomplished many of these things. As a teacher who loves working with people with disabilities I should have known better than to admonish the lives of people who are so differently-abled. Their lives are no less fulfilling than my own, but I couldn't help it. At that time I mourned. I felt a deep loss. I knew I loved my child but she was not the child I was expecting. She is in fact so much better than anything I had anticipated, but I didn't really know that then.

After what seemed like ages a genetics counselor did come in to speak with us. She elated some of my fears, while at the same time instilling others. It was good to at least talk with someone who could give us the information we so badly craved. I felt a little better after speaking with her, but the safe little cage I had built for my emotions had been opened and all those raw feelings escaped. I can easily say that was the worst day of my life. Not because it was just the day I found out Ruby has 22q del, but because it was the day I felt my world change and began to understand how hard my kid was going to have it in this life; that this was for real and it was going to be painful. I knew that she was going to have a really tough road ahead of her, and that's a crappy thing for a mom to know when their child is only 5 days old.

Gotta love this girl!
Photo from Something Blue Images

And now what? NOW....Ruby is the most amazing 1 year old I've ever seen! She is interactive and expressive, loving and oh-so-cuddly. She gives me kisses and hugs of her own free will. She is bright and demanding, cautious and shy, and just plain the joy of my world :) So I do have some info. on Ruby now, and what I know is pretty darn good. Sure she has some delays, and still won't eat, but she will overcome these things the best she can. Who knows what other symptoms of VCFS she'll have? I mean...some things about her life really do stink, but what can we do about it? I'm going to try to teach her to move forward because this is it...this is the only life she gets so she better not waste it on self-pity. And the same goes for me :)

P.S. Wanna see Maggie's post from Something Blue Images on her photo session with Ruby? Go here.

Summer with Ruby

So many fun things have been going on the last week or two that I haven't had much time to write! Ruby's first State Fair and Irish Fest came and went...both were soooo much fun! I am always amazed at how much fun all of these things are with Ruby (maybe because she gives me the excuse to act like a kid). At the Fair she held but refused to taste some fried cheddar and was so excited to see the billy goats. Irish Fest was also a blast, with the exception of that very rainy Friday! Ruby got to dance to the music and bang on a bodhran.

She is really a HUGE music fan! She always has loved listening to us sing, and has been "dancing" for some time now. Recently she has been trying to shake things in time to music, which I'm sure makes her Auntie proud :) She has also been doing so many new things. She can pull herself to standing pretty easily on low objects, and has used the couch successfully a couple of times. She is also closer to crawling than she has ever been. Tonight I even saw her get on her hands and knees and stay there for a moment! She can transition from sitting to laying and can get back into a seated position all by herself as well. And although she is still really wobbly on her feet she sometimes tries to let go of our hands while walking, even though she would fall flat on her face!

Other news: Ruby has been getting better at vocalizing. She is still not deliberately making consonant sounds but I've heard them once or twice. She is also much louder! I think she has also finally picked up the sign for "me." She can also point to objects in certain books. There are a few we have that she can point out cat, dog, apple, bird, fan, and ball. She can sometimes get tree, sun, moon, cow, light, mouse, bunny, and a few others as well. Even though she is pretty behind in gross motor and verbal skills, she is one sharp little girl :) I hope this doesn't offend anyone but my Granddad used to tell my mother, in describing me as a baby/toddler, "You can't shit her!" As in, I was wise to all the tricks...and I'm pretty sure he would say the same of Ruby.

Hmmm...what else happened? Oh yes, Ruby and my friend and I went on a road trip to House on the Rock! She did so good in the car, I was shocked. She only had a small crying episode after she had thrown up, about 10 min away from Spring Green. The visit itself was awesome...creepy, but awesome. If you know me, you know I like odd stuff (don't we all) and House on the Rock is chock full of weirdness! Ruby's favorite things there were probably all the musical rooms and the carousel...although she also liked all the buttons and the guard rails!

Dan and I also celebrated our anniversary last Saturday. We've been together for over 9 years, and married for 6! Wow, time flies. Both sets of grandparents pitched in so we could see a movie and go out to dinner. It was fun, but I felt like I was going through Ruby withdrawal not having her with me all day.

Well, that's it for now. I'm too lazy to post any pics but the next entry will probably be another flashback in time, and I'll try to include some new and some old with that one!

Catheterization #3

OK, so how to explain... Well, I won't go into all the back story of Ruby's heart conditions (most of you know it anyways) but in case you don't know she has ToF, PA, VSD, and MAPCAs. This was repaired back in November by connecting her little MAPCAs to a conduit (a cadaver's main pulmonary artery) in order to make somewhat normal bloodflow. The little MAPCAs, which now compose her branch pulmonary arteries (PAs) have a couple issues, as discovered in this cath. We knew something was up because during her last ECHO they found the pressure in her right ventricle to be a bit high. At the time they told us it could be one of three things: specific narrowing in her branch PAs, narrowing in her conduit, or that her branch PAs were not growing. It turns out to be the first option, which is the best of the three.

There was a spot on her left branch PAs that had narrowed and so it was ballooned in order to expand it...most of you know this procedure as an angioplasty. She will eventually need a stent put in but for now, she is too small. She also has an issue in her right branch PAs. They are apparently curving in an odd way. This is also a contributing factor to the increase in pressure in her heart, but not much can be done about it during the cath. This will have to be repaired during her next open heart surgery. Unfortunately the ballooning that they did do didn't really help bring her pressure down much. Hopefully, it will prevent it from increasing.

A very dopey Ruby in pre-op thanks to some meds

The good news: her conduit looks great! This means that she most likely won't need another heart surgery for another 1-2 years! This could change of course, and she will have to have an ECHO in a month or 2 to monitor the pressure in her right ventricle. But for now, I will take the good news and be happy about it. The doc told us that of the patients he's seen with Ruby's specific set of defects, she is one of the better cases...so that's great to hear.

The reality is that Ruby's heart and PAs will never be normal or functioning with perfect capacity. She will always need repeat caths, ballooning, eventually stenting, and so forth. But she is doing very well right now and has a wonderful quality of life. Except for the moments when we are stuck in the hospital of course! So overall things are going well...and hopefully we can get out of here tomorrow and back to our version of normal :)

Honest Fears

I don't mean to upset anyone. This is just me being honest. I am aware that some of these fears are irrational, some are even selfish. I've been adding to this list for months since Ruby came home for good. This was not written with the intention of being made public but I want to be more honest on here. I'm sure it is a list that will change as the months and years go by. I also want to explain that I don't think about these things every second of the day. I am VERY grateful for Ruby's life and those feelings are certainly foremost in my thoughts. But these fears do sneak into my mind from time to time, and I think that if I don't write them down they will grow into debilitating obsessions.

I fear...
That I won't have grandchildren
That when I die I will be alone with no legacy of family
That my marriage will fail
That I will turn to alcohol if she should die
That I will let down my mother
That I can not be the mother she needs
That I will waste too many moments on worry (funny to worry about worrying)
That I will never see her walk down the aisle
That I will lose what little faith I have
That I will give up
That I will never get to go to a parent-teacher conference with her
That she won't be able to Irish Dance
That at some point, we won't be able to cover her medical expenses
That she will not be able to make friends
That she will be teased
That she will feel pain
That she will not take pride in what sets her apart from others
That she will be psychologically damaged
That it isn't worth it for her to live
That I will make the wrong decisions in her treatment
That there will come a day I will never see her smile again
That I will never be able to see her first drawing
That I will not be able to walk her to her school
That she will never go sledding
That she will never ride a roller coaster
That she will suffer a stroke
That she will never know the joy of eating
That there is no heaven
That I am raising her as if there is no tomorrow
That there is no other conclusion to her journey other than an early death
That she will die slowly and painfully

Diagnosis Day

Back to my "One year ago" series...

So it's day #2 of life for little Ruby. She's still at CHOW and Dan and I are home. It's probably 6am when I first wake up. Now, I'm not allowed to go upstairs yet so I yell up to Dan, who didn't fit on the twin bed downstairs. He says something like, "It's only 6. We just went to bed a few hours ago." And I say, "I know but I have to see her." He tells me I need more sleep so I reluctantly lay in bed staring at the ceiling for another hour or two. At that point I wake him up again and he relents. We start getting ready to go. I bring a couple of kids books and a maybe a stuffed animal. I didn't bring any clothes or much else because I was sure we'd be taking her home that day.

Dan drives and gets me a wheelchair as we prepare to enter the hospital. In the days to come I remember us getting choosy about the wheelchairs. Trying to get dibbs on the few adult-sized ones that weren't meant for overweight people (those never maneuvered well in the tight spaces of the NICU). He returns with a decent one and we're off. Poor Dan. He's not only had limited sleep but he's got to push me through that long skywalk, part of which is uphill, all the way to the other end of the hospital!

But we do arrive, and as we do we are promptly reminded to scrub in. So we scrub, for a full 2 minutes we scrub. As the months wore on and we realized how lax the doctors were--we saw more than a few doctors walk right into our child's room after being in other parts of the hospital without scrubbing in before entry--well those 2 minutes of scrub time turned to 30 sec or so. After our hands are squeaky clean we rush off to Ruby's room. That same routine, for all those days was repeated again and again. And every single time I turned the corner to the NICU my heart lept. I could feel it pounding in my chest with anticipation at seeing my baby. I smile as I recall those moments. I remember Dan and I talking about how everyday as we pulled into the parking structure how happy and excited we were to see her. To hold her and kiss her and read to her. We just couldn't wait to be with her and soak up everything about her.

Priceless Moments

That day, when we got to her room, we couldn't go to her right away. We got to the opening of her room but there were two women inside with a large machine. They were doing an ECHO. They said they couldn't tell us much and needed to concentrate. We waited patiently and calmly. I still didn't think about her heart. I don't recall if they said why they were doing the ECHO but for some reason I didn't make the connection to her heart. As soon as they were done I rushed to her side and had forgotten they were even there at all. She was so perfect.

Some time passed. I believe we held her and changed her diaper and so forth. Dan and I were smitten. Our faces beamed...unconcerned with the setting and situation when she was in our arms. I do remember telling my mom the thing I hated most was not being free to talk with her, read to her, and sing to her like I would at home. I said, "Everyone will think I'm crazy if I start reading to a 1 day old baby." And she told me I couldn't let that bother me. I was her Mama and could do whatever I wanted with her and should do my best to ignore everyone else. So I did. I never let that bother me again. The first book I read to her was Breakfast of Champions. I'm sure the nurses did think I was nuts for that. But it's not like she could understand the words. She just liked the sound of my voice, and I needed to read something funny with all that was going on.

There was one activity that I was introduced to that day that would serve as a focal point for me while Ruby was hospitalized: PUMPING. Oh God, how I hated pumping. The lactation consultant informed me that I better get going with it if I wanted my milk to come in and stay in and so we went off for a pumping tutorial in the pump room. My mom came with me, as she would on many occasions to keep me company and ask the right questions. She was great, the lactation consultant I mean, in fact the whole staff of them were great at CHOW. They were some of the most compassionate and knowledgeable people on staff. We always joke that the people at CHOW we liked the best were the cleaning ladies and the cooks! But the lactation staff and the OTs, PTs, and Speech staff were also top notch.

So cute!

Anyway, I was pumping along and we hear a knock at the door. It's Ruby's nurse. She says that the cardiologist needs to speak with Dan and me and I had better get back to her room. My mother urges me to hurry and says she'll clean up. She says, "it sounds serious, you need to be there to hear it all." I, still in my numb state of shock, remain calm and clueless. And so I walk back to the room and see a group of people mulling about. Dan is sitting. There are a few doctors, one of whom will become Ruby's cardiologist, and my father is also there. I enter the room and hide in the back close to Ruby, who I think was asleep in her little warmer. I remember standing...but I doubt that I was because I was still sore from the delivery. Maybe I want to remember myself as standing because that would mean I had more control or something. Odd...

So there we all are, assembled and looking at each other. The doctor who looks like he's in charge starts to speak. Your daughter has a serious of heart defects...Tetrology of Fallot...Pulmonary Atresia...very serious...missing her pulmonary artery...series of open heart surgeries...chance of genetic syndrome...and the one thing he said that always sticks out in my mind, "If you are going to have a heart defect, this is not the one you want...she is on the worse end of the spectrum of heart defects." Oh great. We asked a lot of questions. I was still very very calm. I was worried about that mention of a syndrome.

"What's that?" I asked.
"DiGeorge Syndrome." He simply replied.
"What are her chances of having that?"
"40%"

I asked a few more questions about it. But he evaded them, explained that most likely she doesn't have that. I remember thinking that 40% is a pretty high chance...I wouldn't describe her chances of not having it as "most likely." I was barely concerned about her heart. I don't know why. I guess I just thought, "they'll fix it, then it will be done." To be honest Dan and I didn't even have a minor understanding of what was wrong with her heart until weeks later. And even then new information would pop up and we would say, "What?! You mean THAT'S what her heart looks like!?" It was very very difficult for us to fully grasp the nuances of her heart condition. Now we can draw you a picture of her heart before AND after surgery, without any visual aides, mind you ;) But back then we knew so little.

A snuggly baby is like a tranquilizer

The rest of that second day flew by. We snuggled, I breastfed Ruby with some success. It was always a battle to get her to eat enough. We became experts at using the breastfeeding scale. Weighing Ruby before and after every feed to see how much she'd eaten. She had a lot of problems with choking while eating too, and so we had to be very cautious of that as well. She didn't have reflux yet...that came later. And all things considered the doctors said she was doing very well. She had an NG tube to supplement her feedings so that should could get the nutrition she needed. And she was off of the oxygen that she had needed the night before. The doctors implied that she would probably not need any since she was doing so well off of it. They told us that she would be able to go home probably within a week after she had "gotten her feeds down."

Before we knew it we had to go. It was late and we needed to buy a breast pump. We hadn't bought one because I had planned on exclusively breastfeeding Ruby and I was going to stay home. So we left at a relatively early time and ran to Babys-R-Us. When we got home Dan broke down. That was his day to lose it. Mine would come soon but I hadn't gotten there yet. I'm sure I cried a little, but I wasn't in full freak-out-mode. I was still numb.

Then the internet searching began. We looked through the confusing little CHD booklet the doctors had given us and Googled the names on the pages the cardiologist had circled. And we found something. An article about a little boy who'd been missing a pulmonary artery and now had one. He was 4 and doing well! Dan emailed the author of the article to get the mother's name and explained our situation. And over the next few days we came in contact with this mom and she showed us a whole community of people who we would come to know so well...even if only through the internet. Without that network of parents I don't know what we would have done during Ruby's time at CHOW. We went through some rough times with some of them (some people really don't like atheists and well...Dan is one) but most were incredibly kind and gave invaluable advice to us. I'd like to add a big old THANK YOU to the CHD community right here :)

After searching and searching we went to bed. I disregarded the no stairs rule, because I needed to sleep in bed with Dan that night. We held each other close and tried to build ourselves up for the next day. We talked about how beautiful Ruby was and how she was strong and would be fine. And eventually we fell asleep.

Birthday Madness!

Well we threw a great birthday party for Ruby last Sunday, despite the flooding my parents' basement suffered. Let's see where to begin...Ruby had a blast seeing all of her family and friends and even decided to take a few steps for the occasion (with a little help from us.) She is constantly wanting to walk around while holding on to our hands. She's still pretty unbalanced though so I think it'll be a little while before she takes off on her own.

Showing off her stepping skills!

She opened presents...OK well only two of them, and then she got really sleepy and cranky and just wanted to cuddle with me. And she glared at some cake. She even touched it but a quick look of disgust flashed across her face. Although she gladly took some of the Cheetos that my mother stuck in it. She even participated in a mini hootenanny after some of the party disbanded!

Napping with Papa (this was before the party actually)

Shortly after that point we noticed she was feeling very warm and after taking her temp (it was 101!!) we gave called her doc. She also developed an odd rash that just disappeared a day or two ago. After a mess of a week we finally figured out it was just a crappy virus. A VERY crappy virus that Dan and I got to know first hand later in the week...yuck.

See...I told you

Anyway, she is fine now and so are we. Thanks to everyone who came out that day. I hope you had as much fun as we did! Oh, and I think my parents took some better pics of the cake staring and all that so if I get them I will post them on here A.S.A.P!!!