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.