22q11.2 Deletion Syndrome, Digeorge, Rare Diseases Day

28 Feb whatis22q

Happy Rare Disease Day! Though 22q11.2 Deletion Syndrome (Digeorge) is the 2nd most common genetic syndrome (after Down’s) no one seems to know anything about it!

whatis22qFor us we’ve learned about cleft palates, g tubes and mic-keys and gravity feeds, more than I ever want to know about the heart and CHD, absent thymus and low immune function, therapies and seizures, hypoparathyroidism, clotting disorders, GERD, velopharyngeal insufficiency and global delays (And much more).

When Josie was 2 weeks old, the day before her 1st open heart repair, the doctor told us “she might not be mentally retarded” and gave me a list of 180 anomalies associated with 22q before he solemnly walked out of our NICU room.

Happy to say that while we have learned a lot of horrible lessons along the way and carried some very heavy crosses, Josie is so much more than a diagnosis and though we spend a lot of time in therapy and hospitals, she is the sweetest, sweetest, loving 5 year old on the planet.

She is my ray of sunshine and my love for her makes every sacrifice fade in comparison to the joy she brings me day in and day out.

So happy rare disease day! Celebrate our differences. Josie is one tough cookie and I’m proud to be her mama.


1441284_10103775679963933_888238114_n

Our midwife, me, Josie and Brian just moments after she was born!

Our midwife, me, Josie and Brian just moments after she was born!

namejo echo

July 4th, 2013

July 4th, 2013

happy belly

Josie and her SLP Janet blowing bubbles.

Josie and her SLP Janet blowing bubbles.

DSC_0422 2 DSC_0821 bath

Sisters

Sisters

beach bathroom

Snuggles

Snuggles

 

toes first time craniofacial 17 mo collage-4.jpg Josie's Christening outfitproud parent
22q11.2 Deletion Syndrome–look it up–you never know; you may get surprised when a rare genetic syndrome suddenly comes into your life.

Heart Awareness Week!

22 Feb

So I should write a more in-depth update. Things have been crazy ’round here.

Josie recently had a cardio, hema, and dental check up and did awesome with all three. No bad news is great news!

josiepoo

Screen Shot 2014-02-22 at 5.13.52 PM

No surgeries on the immediate horizon.

She was just hospitalized over the past weekend for double pneumonia. You can read about that here.

<3 jeni

Upcoming Appointments & Worry

6 Dec

Ok I said I’d write the other half of Josie’s “birth story” and left you hanging. Sorry. I’ll deliver in one cathartic push  at some point. Right now I’m deep in thought. I was going to say “pregnant with thought” instead of “deep in thought” to keep playing with words, but then I figured my Facebook entry would cut off right at the wrong spot and everyone would see the beginning of this post and  think I’m announcing big news… and I’m not… have I lost you yet?

Never mind. *tangent alert*

Ok. SOOO. Josie has a few appointments coming up end of January. We report to cardio twice, not sure why. And then dental (boo).

I am worried. And I’ll explain why and ask you for prayer for peace and for Josie’s health.

1. Firstly, today was a whirlwind busy day. Josie had to stop 3 times to take a break, literally laying down flat randomly on a park bench and a picnic table while on a walk today. She was fine after a couple minutes, but it was so random. She was playing running with all the kids; then she was laying down. Boom.

I am fearful because she has a progressive heart problem. Subaortic stenosis basically just gets worse and worse until you need to have an open heart to clean it out and open up the passageway. The question is how long between surgeries can you go. The surgeon was very serious when shook his head and said he just didn’t know, that it could be 6 months or 6 years. We know she needs another open heart for a valve replacement down the road (likely in her teens if not before). But I would really, really like not to need another one besides that.

Oh man, I hate this. Worrying accomplishes nothing, and 6 months post op back this summer she had an echo and looked great. Here we are a year out and she’s due end of January. She’s never had to stop to take breaks. She’s done it a few days here and there over the past week. I am paranoid it’s somehow gotten severe and she’s just going to not wake up one day. It’s possible. But they’re monitoring her every 6 months and I am sure that’s being on the safe side. So I will try not to think crazy scary thoughts or even worry we’ll have bad results at our check up. But I will probably be throwing up that morning from worry. It makes me physically sick to be in that kind of limbo. Ack.

2. Dental… sooo she has dead teeth. We’ve gone back and forth with pulling them and ended up leaving them twice with 2 different surgeries. If she had them pulled now it wouldn’t probably be under full anesthesia (as opposed to during her other ops where she would have been knocked out) so this would be traumatic. So I don’t want to go to her appointment and learn we need to schedule a tooth pulling without sedation. Yuck.

Worse than that, I’m worried they’ll be like, oh its really bad, she has signs of infection or something (because they said it can happen without pain and we wouldn’t know). Which would be awful because then they’d pull rotten teeth full of horrible bacteria that could easily infect her heart and she could die of infective endocarditis or need that valve replacement real soon…but of course they give antibiotics but what if it’s MRSA or something–PLUS what if she gets cdiff from being on antibiotics.

ALL OF THIS I worry about. Often. I’m a horrible, horrible worry wort. It’s miserable isn’t it? So many negative ways it could go. But I have hope and ask for God to give us a boring safe trip to Shands followed up with smooth check ups that show a beautiful echo, and boring yucky teeth that will probably fall out on their own in the next year or two. Come back in 6 months. Sounds perfect.

So I have to just remember to breathe. Remind me. BREATHE JENI. And I ask for prayers if you somehow made it through all that to this request–please keep Josie in your prayers for easy peezy check ups / excellent results. The taking breaks while playing really scares me. A lot.

Thanks!!

Jeni

parkToday at the park :)

I’m bad at responding to comments AND updating apparently…

15 Nov

So since when I logged on to write a quick update about how Josie’s speech is just exploding and I couldn’t be happier so far with the results of her VPI surgery a few months ago, I noticed I have overlooked a question. Since I wrote quite a bit to respond, it was such a great question asking how Josie is doing since her surgery and whether I thought the surgery was worth it, and I think others may benefit from a post since I get a fair amount of traffic pertaining to this surgery now, I am just reposting my response to Susan. Susan, hope you don’t mind. :)

_____________
“How is Jose doing now? Our plastic surgeon has been recommending this surgery for my daughter for almost 2 years, but I am resistant.” –Susan

Hi Susan–I’m so sorry I’m just seeing this comment somehow. How old is your daughter? Josie is doing STELLAR! Actually I just got on to post an update. She has made such breakthroughs; it’s flabbergasting. :) In light of all the research I’ve read–which I totally never thought about compiling (until now) but since so many people actually land on this site because of VPI surgery / 22q / Digeorge searches, I will try to put up a bunch of links regarding that–anyway I definitely highly recommend the VPI P Flap repair. There are some surgical clinics that won’t do it due to risk, but it has the best outcomes hands down (vs alternative techniques to improve intelligibility). Just make sure with a 22q-er to check via MRA for misplaced carotid arteries as that’s a common feature in 22q (what isn’t?? it seems, lol). Otherwise, the surgery can be extremely dangerous in some rare cases.

Um, anyway–I’m definitely not a doctor, just a research hound and decently smart at reading through and compiling info, so take my words and advice with a grain of salt. But while I have heard a few horror stories, most P Flap repairs seem to go smoothly enough. Josie’s surgery was a breeze (well compared to open heart surgery. There should be a chart shouldn’t there? Ear tubes, cake walk. Heart cath, keep that leg still but you’ll be home before you know it! VPI, graded. G tube placement / nissen fundoplication, ouch. Open heart surgery, unbearable suffering but you (might) survive! Twice even!)

Anyway, this is so long I’m turning it into a post and adding my FB status from today’s therapy sessions:

Josie’s speech is exploding: she’s starting to voice some of her plosives–adding a pah to puppy and saying 3 syllable words. She really wants to talk and is working SO hard. I am so pleased with everything about this last surgery!!!

via my FB this morning. :)

So she is doing exceedingly well. Especially since she only had the op in August. I’m curious as to what age your child is and what doubts you have though. It’s a huge deal and a risky surgery for sure, but it can be a game changer. I’ll try to compile some links and studies and misc VPI lit / resources I found (especially since I wrote a lengthy research paper on it for my SLP Bridge program and therefore had access to articles that otherwise cost money to access).

God bless and hang in there!

<3 jeni

P.S Recent Josie photo: 1441284_10103775679963933_888238114_n

What is 22q11.2 Deletion Syndrome?

18 Sep

Edit: Ack the video didn’t embed the first time I posted. Hope this link works!

I thought this was great:

Josie’s deletion was de novo.

And I’m totally gonna write the rest of her “birth story” soon, really.

<3 Jeni

Follow

Get every new post delivered to your Inbox.

Join 800 other followers