True Strength

This morning we found out that a sweet little boy we’ve come to love from our CDG family passed away in his mother’s arms. The news is devastating and heartbreaking for all of us.  As parents of a child with CDG, we typically look at the age of 3 as a milestone, that our child has reached a point at which they are somewhat “safe” from the infant illnesses, multi-organ system complications, and other side effects and scary prognosis that this disorder carries.

Joel was 4 ½ years old.  He was healthy.  His parents routinely shared videos and stories of his amazing progress.  Even though we have never met Joel in person, we know him as family, we routinely look to his parents for advice and direction and Bianca loves to smile at Joel’s pictures and videos.  The CDG family is worldwide, and yet, so close that each ones triumphs, and tragedies are universally felt.

Joel is actually the second little boy with CDG who has passed since the New Year.  The holidays are a particularly difficult time for our kids.  Even as adults we all know we can become a victim to the common cold and viral bugs that get passed around at large gatherings.  But for children with CDG, their little bodies are too busy struggling to maintain the delicate balance of everyday life, that even the common cold or virus can cause complications that quickly spiral out of control.  For these two angels, Joel and D’Chayro, who have earned their wings… we wanted to share their precious pictures…

         

Each time a child from our CDG family passes away it unlocks that box that we keep trying to hide deep inside.  It makes the horrible things that this disorder is capable of seem to move from a possible prognosis on our children’s medical files to reality.  It isn’t fair, there is no treatment and there is no cure for CDG.

CDG is a rare disease, and because of this, there is no funding.  The good news is that our worldwide community of expert doctors and researchers are just an email, and in some cases, just a phone call away.  We know them by name, they know our families.  They chat with us online, and they directly answer our questions.  We, as families of CDG children, are left with the responsibility to raise funds for their efforts.  And, to ultimately find a treatment and cure for our children.

But, for now, all we can do is send all of our thoughts and prayers to these families who have lost their little ones, of course, wishing there was more we could do.  We must continue to be strong for Bianca, to be grateful for each and every day that we have with her, and that we can only pray that we are blessed with her laughs and smiles for years and years to come.

A friend of ours shared this today – it is so true.

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Fall into Winter

Is it officially Winter yet?  Did we actually miss sharing a Fall post… say it isn’t so! :)  We last left off with Bianca’s pending g-tube surgery… September 21, 2011 to be exact…

Welllll, of course, it didn’t go as planned, and it wasn’t until we were home 3 days later that we learned the tube was causing a blockage!  So, back to the hospital we went, the doctors deflated the balloon a bit, and we began the long (and continuing) road to trying to get back to eating, while maintaining some (hopefully not all) of her meals and supplemental calories tube feeding!  BUT, if this is the “biggest” issue that Bianca has as a result of her CDG, well then sign us up… we are takers!

To try to get us on the right track with the slow slow progress of eating enough calories orally, we have signed up for a Feeding Clinic in Chicago.  We were happy to learn that Bianca was accepted right away, so we will be going up for evaluation in January.  We are eager to hear what information the professionals up there can provide, and hope that they can give us a few new ideas and bits of information that we can start using right away!

Putting the “complications” of the g-tube surgery aside, Bianca has been doing great!  She is getting stronger and talking (in her baby talk and conversational babbles) so much more!  Her inflections and ability to hold a conversation with herself in the mirror, and on occasion with her toys, impresses us as well as her therapists.  It gives us hope that she will one day be able to talk and communicate with us verbally!  Bianca’s ability to understand has taken off as well… mostly good, but sometimes she is able to express her opinion (“I don’t want to eat”), and catch mommy off-guard sending the glass bowl crashing to the floor… yes, why is mommy still using glass bowls… not too sure of that??!

Bianca had a great and relaxing Thanksgiving and we are of course gearing up for Christmas!  This year she very much enjoys the lights on the tree and around the mantle of the fireplace.  She’s not too sure about what we are to do with the presents that are wrapped so pretty and waiting for her… but maybe her interest will spark when we begin to open them in a few days!

For those of you who have a minute to check Bianca’s blog before the holidays… we wanted to wish you a very Merry Christmas and a healthful New Year!  As always, and until next time… love and peace to all…. Bianca (and mommy and daddy) :)

                  

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Summer Adventures

Hi everybody! It’s me, Bianca, and it’s my turn to write a post! :) (Ok, mommy might be helping me a little)

Boy was it a HOT summer! But, even though we stayed indoors a lot, we did  get away and travelled a bit! We visited Chicago, Sedona, Arizona and Estes Park, Colorado. It was great spending time downtown Chicago with Grandma, Aunt Erika, and Danny! Uncle Adam and Grandad even came into the city and spent a day with us!

              

Mommy says that Arizona was actually cooler than St. Louis and the pretty Red Rocks were awesome! I even discovered that I really like veggie hummus! :)

And just a few weeks ago we spent a week in our favorite place, Estes Park, Colorado… At the base of the majestic Rocky Mountain National Park! I was so happy to see my friend Lucas and his mommy, Monika, and to spend an entire week with all of my cousins, Aunt MaryKay, Uncle Glen, and Nona and Papa! :) We had lots of fun, my cousins made me laugh A LOT, we took walks, shopped, and I even had a chance to meet a horse when we visited the stables in the Park! I can’t wait until I get to start horse riding therapy… Mommy says I get to start that after I turn 3!

              

Mommy had a busy summer too… With the help of Aunt Erika and her friends, we now have the first international symbol to represent CDG Awareness! Mommy has been working with parents of other CDG children around the world and has opened an online CDG Community Store and has designed those really cool wristbands that have my name on them, and also general awareness wristbands for all children living with CDG! I think mommy’s going to put the link to these somewhere on my website. :)

I also started a music therapy (Kindermusik) class last week… It is so much fun to watch all of the other kids in the class and listen to the fun music! I love to “tap tap tap” to the beat of the songs and bounce around in mommy’s arms as she dances around with me! :)

Oh gosh, I’m getting sleepy, so I think I’m gonna nap, and I’ll turn the rest of this post over to mommy… This is hard work! :)

Hi all! Bianca had a healthy and happy summer! She excelled in therapy and is trying very hard to roll over consistently and scoot around on her tummy and back. We have some new therapy techniques that will help her gain some independence, yet give her the support she needs to continue to strengthen her core muscles. Her new stander arrived, and although it looks intimidating and is HUGE, Bianca loves it and it allows her to stand “on her own” for several minutes at a time. We will progress to longer “standing” sessions until eventually (months from now), she will stand for two separate 1-hour sessions each day. This therapy is so important, because not only does it strengthen her muscles, but it helps her digestion and improves bone density which will hopefully help to prevent scoliosis as she gets older!

               

On the medical front – Bianca’s growth stalled for several months. We became suspicious that something new must be going on and after talking to our network of other CDG parents (thankfully!) we requested that B have a thyroid panel drawn. Sure enough, our suspicions were correct, Bianca has developed hypothyroidism. After many phone calls, lab redraws, and doctors/hospital visits, she has started treatment and we have an appointment with a new specialist (Pediatric Endocrinologist) in a few weeks. Of the many side effects of hypothyroidism, bone growth delays and muscle weakness are at the top of the list. Within the first two weeks of starting treatment, B had 4 teeth come in and has grown 1/2 inch!

Also, September is a big month for B because she is having both her strabismus (eye) and her g-tube surgery. She actually had the eye surgery three days ago and is doing remarkedly well! Her eyes will be red for several weeks as they heal, but she should be able to see clearer and hopefully not with double, blurry vision! The g-tube surgery is scheduled for next week and will require an overnight hospital stay. Because B is eating pretty well during the day, the goal will be to give her extra calories overnight while she is sleeping so that we can hopefully do some catching up on the growth curve! :)

We look forward to bringing you all more updates soon and thank everyone for your continued support as we make our way toward Bianca’s next milestones!

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Progress in Therapy

Bianca has earned herself a new nickname… Our little “rock star”! Not because she has picked up her guitar yet (although daddy knows that day is sure to come soon enough!), but because she is working really hard in her therapy sessions and is making so much progress!

Bianca recently had a doctors appointment for a 3-month follow up and the doctor said, “So tell me how Bianca is doing and a little bit about her progess in therapy…” It was in answering this question that I had a flashback of Bianca at her first year birthday party and realized how much our little B has learned since February… :)

Probably her proudest accomplishment is that she is learning how to play!! It sounds so simple, but this is a major developmental milestone that makes mommy and daddy smile and laugh everytime she grabs her rings and bang, bang, bangs them on her booster tray! B becomes so thrilled with the noise she makes that often the rings take flight and sail out of her little hands and land somewhere across the room (watch out puppies)!

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Bianca has also learned that she can move! Although lying on her back continues to be her favorite position, she can now turn onto her side and reach for her favorite toys, as well as scoot herself in a half circle on her back to see someone new who may have entered the room! Bianca’s tolerance of tummy time has improved greatly… while still working on strengthening and coordinating her arms, her little legs are strong! If you can imagine a cross between a cute frog and an adorable seal, B has learned how to scoot across her playmat very quickly on her tummy with assistance!

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Bianca’s head control contines to improve and is making it easier for her to tolerate prop sitting and time spent in her bumbo. Her stander should be arriving soon, so in preparation we have been practicing standing and she really enjoys the position and is so proud of herself when her legs “kick in” and bear quite a bit of her own weight!

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Bianca continues to make progress with her oral development and is learning so much in speech therapy! After many months of introducing different cups, the Nuby Soft Spout is the winner! She is still sensitive to juices and consistency of liquids, but, water and whole milk are always acceptable by little miss B! :) And with the introduction of speech therapy, Bianca is learning a few basic signs (hi/bye, more & all done!) and watches intently as we show her objects and then pictures of the objects and makes a choice as to which one she wants when picking between two!

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So, in responding to the doctors’ inquiry, mommy found herself glowing with so much pride over all of the progress that our little rock star has made in therapy! It takes Bianca such an incredible amout of effort and concentration for each therapy session, but she is a trooper and simply beams with pride, smiles and sometimes even a giggle when she learns something new!

This post is dedicated to Bianca’s awesome team of therapists and a huge thanks to all of the hard work that you all do! :)

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Spring Updates

Wow, where does the time go?? Mommy’s “mid-year” resolution… update Bianca’s Blog more regularly!!

So, looking back… it was a very busy Spring, but all around a good one for little miss Bianca!

Since Bianca was diagnosed with CDG in early April, we have learned that her subtype is 1a, which means that she is in the “most common” of the CDG subtype groups. The level of delay and severity still varies widely among children with CDG 1a, but at this time, Bianca’s condition continues to be on the mild side.

Bianca has seen several specialists over the past 8 weeks. Several bits of good news include that she had an EEG which was normal, so there is currently no sign of seizure activity. She also had a heart ultrasound and swallow study, both of which were normal as well. Eating solids is still very difficult for Bianca, but her swallow study showed that if we just keep working at it, that her chewing and swallow will continue to get stronger and that she will eventually be able to eat that mac n cheese (her favorite) without having to have mommy run it through the blender first!! :) Just in case the doctors do decide that “B” should have a g-tube, we recently had an upper GI and gastric emptying test. Happily, both of those tests were also normal.

Bianca’s vision has improved dramatically! We are still doing patch therapy each morning for two hours to strengthen her eyes, but she had a vision test done toward the end of April which showed significant improvements. Bianca is scheduled for strabismus surgery on her right eye on September 15th and we are very excited because we know that after the surgery she will be able to see even better yet!

Amongst all of the tests, doctors appointments and weekly therapies, we did manage to get away and take little miss Bianca on a well deserved vacation to the Florida Keys! Bianca (and mom & dad), had a wonderful time with nothing scheduled except a daily visit to the pool! With smiles everyday, and so many fashionable swimming suits to spare, it was easy to see that little miss B could easily slip into the role of beach babe! :)

Just a few picks of our little swimmer (ok, splasher)!

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Welcome

Hello and Welcome to Bianca’s Blog

We are so happy that you are interested in learning more about Bianca’s updates!

If you would like to post a comment of your own, simply click on the “Leave a Comment” link below.   

Make sure you visit us every so often so that you can hear about, and see, the progress that “B” is making as she works toward achieving her milestones!

Larry and Andrea

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