Thursday, May 30, 2013

Profile of a Handsome Boy – Part 4

Side note: Science geeks are asked to refrain from judging my descriptions of human genetics  . . . you know who you are.

The last and final piece to understanding JD is the most important. Without understanding JD’s genetic make-up it is hard to appreciate how truly remarkable James Douglas is in this world.

Let’s kick it old school and take it back to Science class. Humans have two sets of 23 chromosomes (labeled 1-22 plus X or Y for the gender chromosome), one set from mom and one set from dad, for a total of 46 chromosomes. On each chromosome are hundreds of genes that determine how our bodies look and function. Each tiny gene is just one piece of the human puzzle. Just like a jigsaw puzzle if one piece is missing the picture is still a picture but slightly incomplete. 

Taking a closer look at the 4th chromosome we dive further into our science lesson (ohhhhhh . . . Sheldon Cooper would be so excited right now). A chromosome is made up of 2 sections, also known as the arm: the short arm is called p (p is for petite) and the long arm is called q (it is the next letter in the alphabet – honestly that is the reason it is named q). 

JD's actual Chromosome Map - pretty sweet huh!

If you take a very, very VERY close look at the picture above you will see one of the 4th chromosomes is slightly shorter than the other. Can ya see it? It’s cool, it took me a few times too.

JD’s deletion is on the short arm (p) of the 4th chromosome. His classification is 4p-14 this means his genes are deleted from the tip of the 4th chromosome all the way to the labeled gene 14. The genes on a chromosome are classified with different numbers. There is still so much “they” do not know about chromosomes and the individual genes but “they” are finding out more and more everyday. For example, “they” have isolated a gene on the 4th chromosome which if deleted has been associated with seizures or other abnormal electrical activity in the brain. . .hence why JD and most of his little buddies have seizure activity. Bored yet?

JD's 4th Chromosomes: On the left JD's deletion, on the right JD's full 4th Chromosomes

Each child has a unique deletion. Given this detail it becomes very difficult to classify kids with WHS as mild or severe or to predict what it will mean for future development. I believe the best doctors will guide parents to look for support but avoid giving an estimated outcome based on the fact each kid is unique. After getting to know many of the other families it is clear no two kids are exactly alike. The severity of developmental delays depends: on the genetic material deleted, if there is a translocation or additional chromosome elsewhere, and, in my opinion possible the most important, the parental love and medical care available to the child.

Compared to others in the group JD has a big and rare deletion. Larger than our geneticist had seen . . .and yet, JD is dominating. We recently had a doctor’s appointment which started with Dr. D saying “Did you see the weight? Are you kidding? Check out his weight! He’s doing great” and ending the appointment by saying “I just love these appointments. They make my day.” On paper JD’s deletion tells us he will have some challenges. In reality JD tells us “bring it.”

Is he sitting up on his own? No. Can he hold his head up for a bit? You bet. Does he talk? He sure wants to. Does he smile? Kinda, at times. Does he move around? All the time, he loves to kick and stretch. Is he healthy? Heck yeah. Will he sit up on his own by the end of the year? Yes he will and that will be my first favorite milestone.

A serious question we never get asked but people talk around it: what is JD’s prognosis? When we first learned of JD’s syndrome the research told us not to expect much past the age of 2. Old statistics shows approximately 35% of children with WHS do not make it to their 2nd birthday.  However, that number has changed and decreased with new data. While over the past year we have said good-bye to some of the younger buddies in the group that number continues to decrease.

As of now no doctor has ever given us a prognosis nor have we ever asked for one. Just as the doctors in the NICU treated JD no different we plan to do the same. All of our decisions will be made to ensure he is healthy and comfortable but most of all loved throughout his life. Whether it is long or short JD’s life will be full of love and memoires. Hope that answers the question no one has wanted to ask J

After 13 months of nothing but breast milk for JD and exclusive pumping for mom (yikes), JD has finally started to transition to blenderized food. In fact he is now eating 100% blenderized food . . . and loving it.

We met with a nutritionist at Lurie’s to discuss JD’s dietary and caloric needs. JD was eating 7 times a day every 3 hours with a break overnight. During the transition we moved to 6 times a day every 4 hours with NO break overnight (booo for 2am feedings back on the schedule). But now we have JD’s final feeding schedule, 5 times a day every 4 hours with a break overnight (no more 2am) YAY! This allows him to have more time where he is not hooked up to the feeding pump. The new schedule enables JD to have additional playtime with more activity and less downtime. Plus, selfishly, we no longer have to wake up at 2am and/or 5am to start a feed. The dark bags under my eyes should be clearing up any day now. . .

JD’s new meals include fruit, veggies, protein, grains, milk, and OJ all blended together for a healthy meal. There is a food-based formula we can purchase in a pinch but we figured we would put our Vitamix to work. The kid eats better than us at every meal. Makes me feel guilty when I don’t make a homemade meal.

JD's first taste of ice cream - obviously it's Bobtail Ice Cream (Bobtail is the local ice cream shop across the street from our condo which has 45 minutes lines out the door in the summer)

Give me more please!!!
It’s working! JD is chunky and handsome. As of yesterday, he is 18lbs 5oz which puts him off the charts among his WHS peers. 3rd percentile on the overall growth chart and off the charts on the WHS growth chart – we will take it!!! With his large ASD his heart has to work even harder to pump oxygenated blood throughout the whole body burning more calories as it works. Now you see why his weight gain is so incredible.

Reasons we focus on weight is twofold:
1)    These little munchkins grow slower and growth is very important for development. As a parent you don’t know how important growth is in the first two years until you have a little one who is not growing as quickly. The more he grows, the stronger he gets and the more he can do. Pretty simple biology yet so hard to accomplish.
2)    Anytime you have a surgery you want to be in fighting shape. Strong, healthy, and in peak condition. With JD’s upcoming surgery it is important JD be as strong and big as he can be. The bigger and stronger he is going into the surgery the quicker the recovery . . .is the goal.

We love chunky thighs and a big belly.

Chubbs with rubber band wrists
I have not talked much about JD’s therapies and his amazing therapists but I will save that for another post on it’s own. Yet, I will tell you that JD is doing outstanding things like supported sitting while playing with toys, strong tummy time with good head holding, and rolling from side to side. He cannot quite get all the way over on his own but with some assistance he is looking good. More to come on his therapies but know he is rocking his weekly appointments.

Heart Update
We have met and discussed with Dr. D our pediatrician, we have met and discussed with the cardiologist, we have been to the cardiac cath lab (and discussed results), we have met with the cardiac surgeon (great guy who has an impressive resume of ASD surgeries), and now we have a surgery date. On Friday, July 26, 2013 JD will undergo open-heart surgery to close his very large ASD.

More details to come as we get closer but we ask you to save some of those “please let the Blackhawks win the Stanley Cup” prayers for JD in July.

Neck Update
After meeting with Dr. Neurosurgeon yesterday we are officially weaning JD off the collar. His neck looks great and for the time he will not need fusion surgery. About 3 months after his heart surgery he will get an MRI of his whole spine to check on a few things but for now the doctor is impressed (obviously) and has cleared JD for heart surgery.

The Whole Picture
When people say “medically complex” they could easily put a picture of JD next to the definition. Flip a few more pages and look up “fighter” and you will see an even bigger picture of JD.

Nate and I recently looked back at the list of signs and symptoms that MIGHT be associated with WHS. The list has 30 distinct signs and symptoms. Of those 30, JD has 25. Most kids have less and we have yet to find someone with more. Nonetheless, this list makes JD who he is today and we are incredibly pleased. When I first looked at this list in January 2012 I was incredibly fearful of JD having even 3 of these symptoms let alone 25. Now, I look at the list and think these signs and symptoms are not so scary after all. 

Fear comes from the unknown. Being pregnant with a child who has a very rare genetic syndrome is terrifying. When you become a parent you have an idea of how you want to raise your kids. You have a vision of these polite little mini-me clones that adore you and do their best to behave. Then you arrive home from the hospital with your first little angel (monster) and you realize you have underestimated this little creature.  Your future vision is adjusted.

It’s the same idea with a rare diagnosis. You have a vision full of fear of the unknown but then you meet your little bundle and once again your future vision is adjusted. Only this time you realize rare does not have to mean fear. Yes, there are many unknowns but it’s the things we do know that make us smile. At this point all we need to know is JD has added more sunshine to the family. Days are not filled with fear but rather smiles, laughs, and hugs. 

For all of his complexities James Douglas is a very strong and healthy boy. Doctors are continuously amazed when they see how great he looks and how well his little body functions. Through love, prayer, and positivity JD has continued to grow and surpass all old, antiquated expectations. We have no doubt that will continue well into the future. 

Happy First Birthday James Douglas!!!

Tuesday, May 7, 2013

Profile of a Handsome Boy – Part 3

And we’re back with our profile series. The anticipation is just as thrilling as waiting for the next Twilight. Sorry for the delay but we have been very busy with some fun updates coming up very soon. Stay tuned . . .

The Cord (Spine/Neck)
Life is a story and the events need to happen in a particular sequence to lead you down your true path . . .yada, yada, yada. You have heard me say this many times and I will continue saying it because it keeps proving to be right.

Quick reminder: At our Level II 20-week ultrasound the doctor saw a small hole at the base of the spine that was classified as Spina bifida. We prenatally met with the neurosurgeon specializing in Spina bifida where we discussed what that would mean for delivery and immediately after. It was during this meeting she told us JD would be monitored at Prentice until he was stable then transported to the NICU at Children’s Memorial . . . 3 miles north. Check out the post where we go into detail.
A few hours post delivery JD was transported to Children’s Memorial Hospital to spend two days preparing for Spina bifida surgery. Yet, when he arrived at Children’s the doctors started to question if he in fact actually had Spina bifidia (check out this post for more information).

It was through the multiple MRIs we received the good news JD did not have a hole in his spine rather a sacral dimple (just another sign and symptom of Wolf-Hirschhorn). This information was shared as I arrived at Children’s for the first time. I was tired, scared, lost in thought and had yet to see JD so it took awhile for the magnitude of this news to sink in. When I was pregnant reading up on Spina Bifida and WHS I would say to Nate “I wish he had Spina bifida OR WHS . . . but  WHS and Spina bifida together is going to be tough. And yet, on Day 3 of life we were once again rerouted onto a brighter path.

I woke up on Wednesday, April 4, 2012 with tears in my eyes scared that my son would be having spine surgery only to go to bed that night with tears in my eyes knowing he was resting comfortably without surgery. My belief in miracles grew a bit stronger that day.

However, the MRI did revealed JD has a misalignment in his cervical spine as well as a tethered cord.

C-Spine – From day 3 of life JD has had a soft collar to help keep his neck align as his bones formed. While it might not look like much the soft collar alone has shown astonishing improvement in a short period of time. 

X-Ray on the left (6 months), MRI in the middle (3 days old), CAT scan on the right (3 months) CAT scan - different views yet the same result outstanding improvement

On the first day I was discharged from the hospital I was able to hold JD in kangaroo skin to skin . . . and that was the last time that was allowed for the next 4 months

First and last skin to skin time while in the hospital - a very happy and tired mommy

In the beginning we started off having to hold JD on a pillow in a very specific alignment. No tummy-time, no skin to skin, no tight snuggles. The nurses would come over ever now and then adjusting his position making sure his collar was correct and his neck was aligned. 

Daddy with the pillow hold

After Day 3 it took two months before we truly had the chance to see his neck - the collar needed to be worn 24/7. The first time we took it off I fell in LOVE with his bulldog cheeks and they continue to win me over everyday.

First day with the collar (the red on his face is from the tape)

First picture without the collar - Hello Bulldog Cheeks

Same collar 12 months later

 Going from not being able to hold him close to my heart to now being able to throw him over my shoulder as he holds his own head up is my favorite part of watching him grow. His neck strength is inspiring and we have full confidence by Christmas he will be sitting up with little support. Given where he started this is an astounding achievement. 

One year later lookin' tough with bulldog cheeks and no collar

Neurosurgery continues to follow us and the likelihood of neck fusion surgery (fusing together the C1 and C2 vertebrae) continues to diminish. Fusion surgery still remains in the bullpen as a possibility but we are hoping with each therapy session and all of JD’s hard work we don’t have to go to the bullpen (especially if our bullpen is anything like the Cubs).

Tethered Cord – This was first mentioned in the A Delayed Happy Five Months post. A person’s spinal cord is supposed to end at L1/L2 vertebrae but JD’s goes all the way to L4. Technically your spinal cord should free float in your spine but JD’s is held down, or tethered if you will, which can cause restrictions.

Potentially a tethered cord can cause complications with movement of the extremities as well as other parts of the body controlled by the cord. Although, anyone who has seen JD in person knows he has nooooooo problems moving around. Cord surgery has been thrown into the mix of possible surgeries during surgery season for JD. Given his heart is the most important piece we will focus on cardiac surgery then more to the other specialist. Dr. Neurosurgery has once again been bumped from the top of the pyramid.

This brings me back to my original point . . .if that one doctor (the one who walked in the room and said “I guess I am the barer of bad news) had not mentioned the hole from the ultrasound JD would have stayed at Prentice in the NICU with many of his additional complications going unnoticed for the first few weeks. Nothing against the NICU at Northwestern but their job is to grow small babies, an oil change if you will. Yet, Children’s . . .well Children’s does the overall detailed diagnostic check scrubbing through every inch of the car not just changing the oil. Given JD’s complications he would have ended up at Children’s Memorial at some point. Yet, God gave us the clues to ensure we made it to the right place at the right time. While one of the hardest moments was to watch JD being wheeled away, I truly believe JD being transported to Children’s Memorial saved James Douglas’ life.

JD’s foot is correcting very nicely. He has no issues with his right foot, which is the clubfoot. But that is not the end of the story. The left foot, feeling left out (pun intended), has caused quite a few problems for JD.

Every classy woman knows when breaking in shoes she will suffer for looking fabulous. It’s natural and part of looking stunning. As JD was breaking in his shoes he too suffered for beauty getting a few blisters around his foot. Most healed yet a very stubborn one on the back of his heal continued to get worse. It finally created a hard callus and that was that.

Months later, JD became very moody while putting on the boots and while waking up in the morning. One night Nate noticed his heel was red and tender but I, being the great mother that I am, brushed it off. In my very flimsy defense, Nate hates the boots so I assumed he was looking for any reason to take them off. Mother knows best and I won that round.

The following morning I took off his boots and saw his heel was swollen, pink, white, and black all around his previous blister area. Please refrain from calling DCFS.  Off to the emergency room we went to ensure it was not infected. Infections cause fevers, fevers cause seizures and at this time he had not been diagnosed with seizures so we needed to stay on top of this one.

After 5 hours in the ER, 6 doctors, 4 nurses, and 1 orthotics guy they told me to go see our boot doctor. Perfect.

Dr. Boots recast his right foot for a few weeks to help the left foot heal. Once we put the boots back on he seemed fine again . . . until 3 days later when the moodiness started again. This time I was mother of the year and let him go without boots for two weeks (shhhhh, don’t tell) until we went back to the doctor.

Good news, his clubfoot is still very flexible so we did not lose ground. We now have a custom-made foot brace for his right foot at night so his left foot can stay free and clear. These don’t hold as well so they normally don’t like to use them but JD’s foot is correcting so nicely that Dr. Boots is okay with this for a few months. We actually think JD likes it more because he can move his feet independently.

For now, JD’s boots will sit on the sideline until we are ready for his next pair, which will be custom-made. Considering I could own two pairs of fabulous shoes with red soles, if ya know what I mean, for the price of these boots I might have to grab the red paint to spice up JD’s footwear. 

Look for wrap-up in Part 4 by the end of the weekend. Until then, enjoy the spring. . . especially our buddies in Minnesota who have enjoyed too much snow this year.

Just two classy boys

The goofball and the scholar