Happy Days

Dylan is slowly getting back to his normal, happy self.  He is still a bit on the floppy side but everyday he is tolerating sitting for longer periods of time and he is rolling up a storm.  He is also very happy to be back "swimming" in the tub.

We decided to get away today and head to the beach.  We had a great time.  Dylan was squealing with excitement when we got down towards the water, it was sooooooo cute.  He loved feeling the sand with his hands and feet and actually tried to bear weight on his legs when I put his feet on the wet sand.  This is the first time he has done this since before the fracture.  I was very excited to say the least.

Baby toes in the sand, what could be cuter?

The cutest kiddos in the world!

I had to add this video because tonight when I was feeding Dylan dinner he decided to blow kisses to me, I was almost crying, it was just too cute.

Some Good Things

Wednesday Dylan got his cast off -WHOO HOO!!!  Sadly this was a traumatic experience for him.  He was completely afraid of the saw they had to use to cut it off.  It was very very loud and he was covering his face and screaming during the whole process.  He then was sized for leg braces which he will use when standing for now until his bones get stronger then hopefully not have to use them at all. 

Before - still happy

Not too sure

Totally scared and angry

OHHHHHH poor baby!

Free from the stinky cast, but still pretty upset.

Today he was the happiest he's been in 4 weeks.  I have never seen him kick his legs and move around so much.  When I put him in his crib for his nap every time I checked on him he was in a different spot and in a different position.  He was laughing at Hailey and having a great time just being free.  I was probably just as happy as he was because I could hold and cuddle him without this big thing poking me in the stomach.  The downfall to being in this body cast for four weeks is that he seems to have lost a lot of his strength, mostly in his upper body.  He feels like a wet noodle.  I hope that it doesn't take months to regain all that he had accomplished.  He does resume PT/OT next week so hopefully that will help. 

I also heard back from the Endocrinologist today with Dylan's lab results.  Good News - she doesn't think he has osteoporosis!  All of the labs came back normal except for his vitamin D - it was at about half of what it should be so she has started him on vitamin D supplements for now.  I do need to send another urine sample because the lab messed up and tested it for the wrong things.  So until that comes back we really don't know for sure if we can rule out the osteoporosis but she feels strongly that the fracture was from his low vitamin D and lack of weight bearing which together caused him to have fragile bones.  I hope and pray that the combination of the supplements and leg braces will help Dylan to one day be able to walk and run.

Micro Array Results

I just got the phone call from the Genetic Counselor - all CVS results are NORMAL!!!  These results include the long awaited micro array testing that basically looked at each chromosome and tested for any deletions, microdeletions, and/or rearrangements.  I am so happy and relieved.  I feel like I can finally take a deep breath. 

Next week I go for my 18 week formal ultrasound.  I can't believe it has gone by so fast.  I will be having the ultrasound with the Perinatologist just to be safe.  I will post the pictures next week. :)

Father's Day

We celebrated Father's Day a little early (Saturday) and had Mitch's family over for a BBQ.  The kids had a great time swimming in our little $20 blow-up pool, bouncing, and swinging.  Dylan is hangin' in there with the cast - only 3 more days to go.  I know he was a little jealous and wished that he could swim too. 

Happy Father's Day babe, you are a wonderful father and husband.  We all love you so much. 

The kids are so blessed to have you as their daddy.

Endocrinology Appointment

 Off to see the awaited Endocrinologist today.  She was a wonderful doctor and listened to me for almost 30 minutes, did a very thorough exam of Dylan and told me honestly that she was going to have to take his chart in front of the panel and have a discussion about his case.  This is the first child she has seen with WHS and the youngest child with osteoporosis.  She wants to find the best treatment for him to give him the best chance at a great life. 

We talked a lot about his diet and his lack of weight gain in the past 2 months, but remember in the last 2 months he has had spinal surgery and been in a body cast - poor baby has been through a lot.  She wants him to be on a high protein/high fat diet.  I told her that I just recently have been mixing in coconut oil into his food - which she said was great, but she also wants me to try whole fat Greek yogurt and whole fat cottage cheese mixed into his food which are high in protein, calories and fat.  I told her I also just ordered Duocal supplement and am awaiting its arrival.  She also wants me to offer him whole milk at every meal since he no longer will take the bottle.  The tough thing about the milk is that sometimes he wants it and other times he doesn't and will just spit it right out, so I told her I would try my best. 

She then ordered a list full of labs to see what is going on inside his little body.  She wants to see if he is deficient in vitamin D or calcium, phosphorus, etc... she wants to check his thyroid and his urine.  So off I went across the street to the lab.  I then signed in and proceeded to wait for over a half hour (with only one other person in the waiting room I might add), until they finally called us up looked at the lab slip and said "this is going to take a lot of blood, we can't do it all in one day."  I said fine and told them to just draw what they could and I would bring him back in a day or two.  Then they said that they didn't know which one to do first and wanted to call the doctor to find out which lab was a priority (which now the MD's office was closed for lunch).  I told them that they were all equally important and it didn't matter which one they did first as long as they all get drawn.  To make a long story short they refused to draw his blood because they didn't know which lab to draw first and he looked like a hard stick.  As they are telling me that I am out of luck and will just have to drive down to San Diego, numerous times I might add, I started to get so mad and frustrated that tears started to well up in my eyes.  I am totally embarrassed by this but I couldn't help it.  I just want to find out what is wrong with my son and they wouldn't help me.  They said that maybe I could come back later or another day, but I said "NO I am here now and I have been waiting now with my crying child for an hour and these labs are VERY IMPORTANT to his diagnosis and treatment."  I then told them thanks for nothing and stormed out of the office.   I am mostly frustrated at the incompetence, if you are working as a phlebotomist you should be able to draw blood!  Am I wrong?  When I am working in the hospital the people in the lab are the ones that I call when I can't draw someone, and let me tell you that is not very often - I am a great stick.  They should be great at this skill because it's all they do all day.  ARGHHHHHHHHH!!!!!!!

After I got home and stopped crying I called the doctor's office and explained what had happened.  They were shocked and told that they won't be sending their patients to that lab anymore and gave me numbers of two other labs in the area.  At least I will be able to go somewhere local and not have to drive over an hour for blood work.  :) 

To sum up this post - it will take about 2 weeks to get all the blood work back and for the doctor to discuss Dylan's case with her colleges.  She then will decide which medication and/or supplement will work best for his condition and any other treatment or therapy that may be needed.  Being that it is now about 3 hours since I was in the lab I am now over my crying fit and am ready to face the rest of my day - I think my prego hormones have something to do with this emotional outburst because I have recently been easily frazzled.

Sorry no pictures today, but I will make it up to you all.

Passing the Time...

Dylan was particularly grumpy today so I tried to pass the time as best as I could.

We started the day by feeding the turtles...

then onto watering Hailey's sunflowers, which I am proud to announce that I haven't killed them yet...

With Hailey off to pre-school for the day I decided to head off to the mall.  This is one of my favorite things to do even if I don't buy anything, but...

...as you can see I did pass by a few stores.

Dylan was very happy shopping.  He did bring a lot of stares and "awhhhhhs" with his cast and a few times when people would start to stare too long I would stare right back.

Next on the agenda was to pick up Hailey from school.  This is usually a long process because she has to show me everything that she can do.  "Watch me mommy, watch me"  is what I hear for the next 30 minutes or so but it is soooo worth it.  She is my sunshine and gets cuter and more amazing every day. 

 

Dylan is very popular at Hailey's school and these boys couldn't resist having their picture taken with him.

The last picture of the day - a self portrait of my growing baby bump - 15 weeks now.

We are still waiting to hear on the micro array results.  Hopefully by tomorrow or early next week we will get the call.  I know in my heart that everything is fine but I'm still keeping my fingers crossed.

Ortho follow up

Dylan had his follow up appointment with the Ortho today to see how his leg is healing and we finally got some good news, the bone is healing great and he only needs to stay in the cast for 2 more weeks!!!  Thank God!  Finally something positive.  I also heard back from the Geneticist today.  I called her last week to ask if osteogenesis imperfecta is a condition associated with WHS.  She told me that children with WHS can have osteoporosis but usually not osteogenesis imperfecta.  Even though they are both a type of brittle bone disease they are very different.  She also told me that she does have one other child with WHS in her practice that has had fractures like Dylan's.  This was good to hear because the research I have done about O.I. is not very encouraging.  It is actually a genetic mutation of a chromosome and is not treatable.  However, osteoporosis is totally treatable!  She encouraged me to make an appointment with Endocrinology to get Dylan on the proper medication - done already, we see him next week.  Now I will be counting down the days until June 23rd to get this horrible stinky cast off my precious baby.  Things are lookin' up.

I forged all of Dylan's blogger friends' names because I know that if we lived close to eachother they would have been here to sign themselves.

Happy Boy!

Finishing off week 2 in the body cast with Dylan.  He has his ups and downs throughout the day.  This morning he was crying a lot but then mostly happy the rest of the day.    Going outside solves a lot of the fussiness so we have been going on lots of walks.  The rash that was on his back last week has now gone away and his skin hasn't shown any signs of breakdown around the cast.  I am so glad, that rash looked pretty bad, I was a little worried that he was going to get a nasty sore/infection.  Keeping my fingers crossed that everything continues to stay well for the next 3 weeks.

Also, I forgot to mention it in the previous post but I have been concerned with Dylan's weight.  When he was brought into the hospital he weighed the same as he did one month prior when he had his back surgery -14lbs 5oz.  However, he did grow 3/4 of an inch and now measures 27" long.  I was actually shocked to see that he hadn't gained any weight.  He eats so much.  He is currently taking in about 28-32oz of stage 3 baby food/day, his milk intake has significantly decreased to between 6-12 oz/day because he would rather have food.  He also drinks water and juice during meal times, and he never vomits after meals.  I don't really know what else to do.  I try to feed him a good variety of veggies, fruit, meat, yogurt, etc... so I feel he gets a really balanced diet.  I also add baby oatmeal to everything to bulk it up and add calories, and I tend to pick the food that already has the highest calories/fat/protein, etc.  Why won't he gain weight?  What is it about WHS that makes them grow so slowly?  If anyone knows please shed some light, I would love to understand it more.  Our OT suggested Duocal to add more calories.  Does anyone have experience with this supplement?  Or should I stop worrying and just let Dylan be Dylan?

So to change the subject completely - we got the first set of results from the CVS testing - NORMAL 46XY- that's right it's a BOY!!!  We (Mitch especially) are very excited to be expecting another boy and of course relieved to hear that so far so good.  We still need to wait about another week for the microarray results.  The first set was just testing for Down Syndrome, and Trisomy 18 & 13.  I feel relieved but not all the way, not just yet anyways.  I will admit that I was almost crying at the thought of having to get rid of all of Hailey's adorable girl clothes that I have been saving for the past 4 years.  Girl clothes are much cuter than boy clothes if you ask me.  So there you go, that's all the news that I have to share. :)