Sunday, January 4, 2015

New Year, New Blog!

It's been a while but I decided to start something new. Find me at:!

Friday, February 10, 2012

One Year

One year ago today started like any other day. I woke the boys up (because they only sleep in on days that we need to be somewhere), got them dressed and dropped Parker off at school. Reed and I ran some errands. After picking Parker up, we headed home. I got them lunch just like usual but that's where things took a turn...

The phone rang. I felt a wave of nausea. I just knew that this was the call that I had been waiting for.

The night before, I had realized that it had been exactly four weeks and that I would hear something any day. We had been told that it usually takes 4 weeks but could take as long as 8 weeks.

I spent that night obsessively reading the same articles and blogs that I had discovered over the previous month after first hearing the words, "Williams syndrome." I looked at picture after picture and saw hundreds of children that could be Reed's long, lost siblings.

I just knew.

And I was right.

It was the call I was expecting.

Me: Hello?

Caller: Hi. Is this Mrs. J?

Me: Yes. This is Heather.

Caller: Hi, Heather. This is Juliann, Reed's genetic counselor from Children's.

    My stomach dropped.

I'm just calling to let you know that the results of Reed's microarray analysis are in...

   My stomach dropped even further in to the pit of my gut.

...and the results confirm that he does have Williams syndrome.

  Whoosh. A metaphorical fist met my gut and knocked the wind out of me.

I don't remember much else about the call. I know that I asked a couple of (looking back now) really irrelevant questions and apparently had the presence of mind to make note of the fact that I needed to schedule a follow up with his geneticist and counselor and that they wanted us to do a follow up in cardiology as soon as possible. She must have thought I was crazy. I didn't really have any great questions. I just couldn't manage to talk to her right then. I was expecting the call and I was expecting the result, but I guess I just wasn't ready to hear it.

After hanging up, I felt the panic attack wash over me. I couldn't breathe. I felt sick. I couldn't stop shaking. I was still trying to feed the kids and had to get them to nap. But I couldn't function.

In the two minutes that I was on the phone with Juliann, my day - and life - suddenly become like none other I had ever experienced...or so I thought, anyway.

I picked up the phone and called Scott. If I had to do it all over, I would have waited until he got home from work. Can you imagine getting that call at work? And having to hold yourself together for the rest of the day? To this day, I still feel bad about how I handled it. I remember speaking really fast, sobbing and then saying I couldn't talk, it was nap time, I had to go.

I managed to get the kids napping and I spent that time (again) obsessively reading about Williams syndrome, special needs, developmental disabilities, congenital heart defects and anything else I could find. I found message board after message board after message board and read about other families' experiences but I did not reach out to anybody.

I think I waited until the next day to tell my mother and I texted two of Reed's therapists - the ones that have been the most supportive - with the diagnosis. But it was at least a week before I told anyone else, even though I had already told friends and family that Reed was undergoing genetic testing. I just couldn't say the words.

At that time, it felt like the world that I knew was ending. Nothing would ever be the same. Reed would never have the life that all parents wish for their children.

That phase, for me, was short lived though.

I started reaching out to family and friends - mostly through email because it was so much easier to to say it all in email without having to answer too many questions and I referred them to the Williams Syndrome Association for more information. Everyone was incredibly supportive and I started to realize that my life, my family, my friends really weren't going to be different after all.

I started to feel more relieved than sad. I had answers. Finally.

I joined the Williams Syndrome Association and volunteered my time.

Two weeks after the call, I posted a message on a Babycenter message board for parents of kids with chromosomal change. I had lurked on Babycenter for a while but never really posted so this was a big step for me. I was ready to connect with other parents and experiences. Within minutes, three mothers responded and connected me to a vast network of WS parents on a private Facebook group. I will forever be grateful to these amazing women and mothers. I have learned so much from them and even though we have never met in person, I feel like I've known them all my life. They just know...

The more I opened up, the more I learned, the more I got involved, the easier it all became. That call on February 10, 2011 really didn't change my life that much. I wrote about this sentiment here last year. We still had countless therapy and doctor appointments. We still had concerns about Reed's health and development. We still had concerns about Reed's future. But we also still had that sweet, amazing boy that can light up an entire room with his smile.

I realized that yes, Reed's life will be different than what I wanted for him. But it will still be a great life filled with joy, love and family. Different is ok. It's about him. Not my wants and wishes.

Most parents of kids with special needs are familiar with a metaphorical essay called Welcome to Holland. And if you are not, you should read it. It does a decent job of describing what life is like once you've come to a place of acceptance and understanding. The place where I am now. Most of the time.

There's another essay out there called Amsterdam International. This is the one that I can really relate to. It acknowledges and addresses those nearly impossible moments, those stages of grief that we all feel after first getting a diagnosis. I found myself reading Amsterdam International over and over in those first couple of weeks because I felt like it was ok to feel like crap, to be mad and sad. It also gave me hope that it would get better and my life (and Reed's) would become normal for me, we would be happy and even fun.

Don't get me wrong. There are still (rare now, thankfully) occasions when I want to pull my hair out, cry and scream about how unfair life is. And to be honest and fair, I had two really rough days this week dealing with Reed's doctors that almost sent me over the edge. I get burnt out with therapy and doctor appointments every now and then. I worry about Reed's health. And securing a financial future for him. I stress about his upcoming IEP, advocating for him in the schools, fighting schools to get the services he needs and fighting doctors' egos when determining the proper course of care. Sometimes, it's all too overwhelming. I don't always have my act together but these moments have become farther and farther apart and I spend my days now enjoying and appreciating my boys for all that they are.

Our life is not the life I ever would have expected or planned for but it is a good one. A happy one. For the most part, we move from day-to-day with ease and little conflict aside from the toddler and preschooler angst. It has become normal for us and that's what's important.

One year ago, I thought my world was crumbling. But I'm still here. And I am happier and stronger than before. More appreciative and understanding. I am a different person now. A better person. Just one year later...

Tuesday, January 17, 2012


I've had quite a few people contact me lately to ask if everything is ok. They were worried because I haven't posted here in a while.

I'm so sorry I've kept you hanging...

Everything is fine. Great, actually. I guess I've just been caught up in life. Distracted.

I've been keeping myself busy with the holidays, visiting family, preschool, therapy, doctor appointments, finding new and fun things to do with the kids, dealing with runny noses and activities for me to keep my sanity :) I've had quite a few ideas for posts, I just haven't been good about taking the time to organize my thoughts and getting them out on paper, in writing.

I would have to say that the best development since my last post is that Bean is finally (FINALLY!) sleeping on his own, in his own bed. It took a lot of preparations, appointments and planning but he did achieve this milestone and now, he really values having his own space. Here he is as seen through the monitor sleeping soundly, beautifully, peacefully:

We don't dare sneak in his room while he is sleeping for fear that we will wake him.

When he is feeling well, he is sleeping through the night. Yes, you read that right. He falls asleep on his own, in his crib and then doesn't wake until morning. When he has a cold (which seems like all the time right now), he wakes up once or twice (or sometimes more) but is easily soothed by The Husband. I can't go in because the floodgates open and he'll never calm down.

For all the families that are struggling with seriously disordered sleep, I have a post (that I have actually already started! Go me! Planning ahead!) coming soon that will detail our story and how we got to where we are.

I have a lot of other great posts planned in my head, too and I will work very, very hard to avoid getting so distracted again. I have a lot of writing to do (and photos to upload) but in the meantime, I'll leave you with some snapshots of our Christmas celebrations. Hey, better late than never, right?!?!

Preschool Christmas Program

See you soon!

After publishing, I noticed that something is up with my comments. I have it corrected for the next post but can't seem to turn them on for this one. Sorry for the inconvenience. If you would like to communicate, you can do so on my facebook or shoot me an email :)

Wednesday, November 2, 2011

Hanging with Baby J

I've been making an extra effort lately to spend as much one-on-one time with Baby J as possible. He had been showing signs of jealousy towards his brother and the extra attention he receives in the form of therapy sessions (fun grown-up playmates that come to the house) and doctor appointments (fun outings - at least in Baby J's eyes).

He goes to preschool three days a week but still really needs some quality time with mommy.

Here he is gazing at the glitter meditation jar we made together.

I discovered it on Pinterest and it was super easy to make. If you don't have a Pinterest, it's an awesome collection of, well, just about everything and a place to keep and organize all the great ideas you discover online and want to keep track of. Here's my link: Let me know if you are interested and I can send you an invite. 

We also recently made an attempt at cake balls/cake pops a la Bakerella. They were a disaster but they sure did taste good!

On Halloween, the whole family set out to trick-or-treat but Bean wasn't exactly thrilled with the rain so he and his daddy headed home so Baby J and I could explore the neighborhood in the dark (a first for him!) and seek out those coveted Halloween treats.

Today, I get to spend a little extra, unexpected time with Baby J.

Today is a preschool day. Last night, I tossed around the idea of keeping him home today because he has a little cold - no fever, just not 100%. I decided to make a game time decision. When I got him up this morning, he lit up and asked if it was a school day and I didn't have the heart to keep him home. He LOVES school.

So, we rushed around and ran out the door.

When we got there, though, he was not interested in playing and wouldn't leave my side. He didn't want me to leave and couldn't really tell me what was wrong.

This isn't like him at all. Usually, I have a hard time getting a goodbye kiss because he is too interested in playing with his friends. His teachers agreed that this isn't the sweet, silly boy they are use to.

I gave him a choice: stay and play with friends or come home and play with mommy and Bean.

He couldn't decide but he wasn't about to let go of me.

I made the decision to bring him home. I expected a tantrum the second we left because he often has trouble making decisions. I was wrong. He put his coat on, grabbed my hand and walked to the car. As soon as I strapped him in, he said, "Mommy, I'm happy. Let's play at home. We can do school tomorrow."

I guess I made the right decision.

He's taking the day off and now has two days to get back to 100% before returning to school on Friday.

It's not one-on-one time, but we are getting lots of play in and he even "helped" me make crock-pot lasagna (new recipe. Will it be a hit or miss?). We don't even have any therapy today - just time to cuddle, play and hang out.

He's such a smart, sweet little boy. I'll take any time with him I can get. :)

Friday, October 14, 2011

Fall Photo Bomb

I love the fall. And my boys.

Seriously, fall is my favorite time of year. I love the colors, scents and tastes. But more than anything, I have been enjoying watching the boys experience the season.

They've been having fun exploring the changing leaves and yard.

And we took them to fall festival at Schramm's Farm last weekend. We have taken them to another farm in years past but ended up liking this one so much better because it was much more relaxed and low key.

Bean waited patiently while Baby J explored the hay maze. Despite the persistent scowl on his face, he really, really loved it and didn't want to come out.

Then, we waited in a short line for what turned out to be their favorite part of the day - horse rides!

And what trip to the fall festival would be complete without playing in the pumpkin patch?

We had a lot of fun and the boys were sad to leave but I think our family has found our new favorite fall festival. A trip to this farm is now a family tradition for us.

I love this time of year and the boys seem to love it, too. I'm looking forward to enjoying the rest of fall with them and watching them explore all that this awesome season has to offer.

What is your favorite season and what are some of your family traditions that go along with it?

Thursday, October 6, 2011

Could it be so simple?

Yesterday was Bean's follow up at the CP clinic at Children's. No, he doesn't have CP but the clinic sees children with various conditions, syndromes and developmental delays.

The appointment went really well. He saw a physiatrist, CNP, occupational therapist, physical therapist and speech therapist. Everyone was really pleased with his progress since his appointment 6 months ago. We are not going to do braces/afo's (yet?) and we will go back for another follow up in 3-4 months.

After the appointment, we stopped in at the lab to have his blood work done for his GI since we were already there. They were doing a full blood panel as well as testing for Celiac disease. I also requested that they test his serum ferritin because a deficiency can cause periodic limp movement disorder.

If you have read this blog for any period of time, you know that Bean is a horrible sleeper. He thrashes all night long and wakes up screaming every one-two hours - some times more frequently. My mother first saw mention of PLMD and iron deficiencies in a child with Williams syndrome so she suggested that I look in to it. When I read about PLMD, it fit him to a tee, so I wanted to test for it.

Well, I have amazing news.

Bean is anemic. I know, I know. It's not a good thing. But it is a good thing; amazing even.

It's really no surprise. He eats like a bird and can't take a regular multi-vitamin because of calcium issues.

I'm not sure how they have missed it this long but it could be the answer we have been looking for. And it's easily fixed. This could explain all of the sleep problems that we have been dealing with for TWO FLIPPING YEARS! Well, not all - we still have the behavioral component to deal with but that comes after we fix the medical problem.

I've been insisting for two years that there's something more going on than a behavioral problem. Something not normal, not right. And of course there's a behavioral problem. I comfort him to sleep and every time he wakes and he's still in my bed. We HAVE to deal with that.

But I was right, darn it. There is an underlying medical reason that Bean can't stay asleep and no amount of melatonin or anything else seems to help. He's deficient in a very important mineral that is causing cramping in his limbs over night.

So here's the plan. We are starting an iron supplement today. We are continuing with melatonin. We will have his iron levels retested in six weeks (or sooner if I have my way). We are going to see a sleep specialist in two weeks to try to fit all the puzzle pieces together and come up with a sleep plan for Bean that takes all factors in consideration. BTW - one of the docs at our regular pediatrician office, Kids Plus Pediatrics, is the aforementioned sleep specialist. Have I mentioned that they are awesome? Really a one-stop shop. They can handle so many things! In the meantime, I'm hoping that Bean will sleep a little more restfully as we begin to restore his iron supply and we all begin to get some much deserved, much needed sleep. Then, we'll start to deal with the behavioral issues...

When I got the news this morning, I was so happy that I cried. Yes, happy tears. Again, not happy that Bean is anemic but overjoyed that we might finally have our answer.

Could it really be so simple? Oh, I hope so!

Sunday, October 2, 2011

"I need a case manager."

So many times, I've heard parents of kids with special and complex medical needs say that they need a case manager. I can certainly relate. The good news is that there's resources out there for parents like us.

It became apparent early on with Bean that we would be juggling a number of specialists and therapists. It was cumbersome keeping track of doctors and the frequency of tests and appointments.

Shortly after receiving his Williams syndrome (WS) diagnosis, his pediatrician referred us to the Diagnostic Referral Group at the Children's Hospital of Pittsburgh. We were overwhelmed with a list of doctors we needed to see and tests that needed to be done (and then repeated at certain intervals) and the DRG has been a life saver.

The doctors in this clinic have two purposes:

1. general healthcare management for children admitted to the hospital


2. managing the care of children with complex medical needs.

Fortunately, Bean has never been admitted to the hospital over night but he does certainly fit the second category and it will be helpful if he is ever admitted that we are established with this group.

Bean still goes to his pediatrician for general well baby care, immunizations and simple sick visits but his doctor in the DRG oversees his care with other specialists. She helps me keep track of when he needs to be seen and who he needs to see. She oversees all of his test results and makes referrals to new specialists if/when needed. She also helps me to get appointments when it is hard to get in with a specialist. She is amazing and for all intents and purposes, she is Bean's medical case manager.

Wouldn't it be great if doctors like this were available to all families of kids with special and complex medical needs? The good news is that many children's hospitals have similar services. I did a quick search and found a couple:

The Diagnostic Center at Children's Hospital of Philadelphia
The Diagnostic Center at Children's Hospital of St. Louis

and I'm sure there's many more out there.

To look for services on your hospital Web site, look for words like "diagnostic," "referral service," and "complex care" or call your hospital's general information number and ask. If your hospital doesn't have a similar service, you can ask your geneticist or lead physician to act in a similar capacity.

Another resource is that every hospital has a Social Work department and they can help you navigate the hospital system.

And one other thought that will make your trek though many doctors more organized and productive is to keep a notebook/binder with all important documents/notes/tests/dates/etc. and I also carry a single bulleted list of all diagnoses, tests, results, doctors, therapists and phone numbers. The docs love this and it makes appointments so much more focused and productive.

For specific genetic conditions like WS and other developmental diagnoses, clinics exist where you can go and see all the essential specialists and therapists in a one or two day trip. There are WS clinics in Boston, Cincinnati, Columbus, Philadelphia, San Diego, Bronx, Buffalo, and Salt Lake City. We are considering getting Bean established at one of these clinics soon so that we can consult with people that specialize in WS. Contact information for  each clinic can be found at the Williams Syndrome Association Web site.

In the meantime, I have been very pleased with the standard of care that Bean has received at Kids Plus Pediatrics and his various specialists at Children's. It has all been made easier since we have received the coordinating services of the Diagnostic Referral Group. I certainly recommend looking in to similar services in your area. Having a case manager makes it all more, well, manageable.

Saturday, October 1, 2011


Oops! I was fooling around with Blogger's mobile app and I accidentally deleted my last post. It was about being back. And the reason that I haven't been writing - Bean's sleep has been atrocious (and it still is) - and I have been more sleep deprived than ever imagined possible. He's waking every 30-60 minutes. No exaggeration. We're looking in to the causes but we are thinking that his reflux is flaring and that he might have something called periodic limb movement disorder due to an iron deficiency.

Either way, writing has been good for me so I'm making a renewed effort to get back in to the swing of things. Regardless of how tired I am.

Right now, I'm working on a post about some really important resources to help families with complex medical kiddos keep organized and on top of the many specialists. Expect that post later today or tomorrow.

Oh, and I also just installed a new comment system to try. Check it out and leave a comment to let me know what you think. And if you have a blog, you can click the little CommentLuv box and it will link back to your most recent post. Pretty nifty!

Monday, September 12, 2011

Surgery Update

I apologize. This update is long overdue.

Bean's dental surgery was last Wednesday. We headed to the hospital bright and early. After checking in, we were sent to the surgical play area where Bean had a blast (in his exceedingly large hospital gown) in between consultations with the nurse, his surgeon and the anesthesiologist.

When it was time to settle down and prepare for surgery, Bean became very agitated. We decided with his anesthesiologist to give him a dose of Versed (it's like a kiddie version of Valium) to help him relax. They needed to get a 4-limb blood pressure check so the med helped immensely. After about 10 minutes, he was as snuggly and docile as ever. 

It made talking to the doctors a lot easier because he wasn't crying so hard and his vitals settled down.

Going in to the surgery, I felt great about his surgeon and even better about his anesthesiologist and his resident. They all had a decent amount of experience with and knowledge of Williams syndrome. The anesthesiologist was very thorough in his preop evaluation and he all but wiped away my concerns.

I carried Bean back to the OR and was there with him through induction. He did great. He was nice and calm and drifted off to sleep gracefully. Once he was asleep, the nurse directed me to the waiting room.

My husband, mother and I ate some breakfast (food is a great comfort item/distraction, right?) and just chatted for a bit. 

Less than an hour later, the surgeon came to let us know that Bean did great and was in recovery. They did have to remove all four teeth because they were concerned about the risk of infection causing cardiovascular problems. 

The nurses kept peeking in to the waiting room while the doctor was with us so I knew that Bean was awake - and I guessed that he was pretty agitated given his previous history with anesthesia.

I was right.

The nurses escorted Husband and I to recovery and there was Bean, a tiny beast. My poor baby hadn't even opened his eyes yet but he was swollen and crying with a puffy, red mouth. They gave him Precedex (a sedative) to help him calm down and Fentanyl and Tylenol for pain. but nothing worked. He was most upset about everything attached to him and was thrashing around. His blood pressure and pulse rates were through the roof but his oxygen sats were stable.

This lasted for about an hour until they unhooked everything. He wanted everything off so bad that he managed to pull his IV out when they were getting ready to remove it. He was still upset but a bit calmer than he was.

We moved to Recovery level three where my mother was able to join us and just had to wait for Bean to drink something and keep it down so we could leave. But Bean being Bean, he refused everything they offered. He wouldn't even nurse. He fussed off and on and only wanted his mama. Eventually, after an upset stomach, he slept for about two hours. We were beginning to get concerned that they were going to admit him if he didn't drink. Fortunately, after he woke up, he was feeling a bit better and nursed.

So, four hours after his surgery ended, we headed home.

The next couple of days were rough. Bean was very irritable, refused to eat anything other than breast milk and ran a persistent low-grade fever. We stayed in touch with his doctor but thankfully, his fever never got high enough that we had to go back in.

Aside from having a little cold, Bean is doing much better this week. He's still pretty clingy but he is eating, drinking and playing. He had his two-year well check today and did great. His ped took a look at his gums and said he is healing nicely.

Thanks so much for all your support. It means the world to my family.

Tuesday, September 6, 2011

Tomorrow is the day...

Bean's dental surgery is tomorrow morning.

I wrote about it before here and here.

We have to be at the hospital at 7:45. I'm glad it's relatively early so that he won't be too hungry and grouchy.

I'm worried, though. Well, I'm not so much worried about the actual procedure - though I am a bit bummed that he will be losing at least two (probably four) teeth. What I am concerned about is the anesthesia.

Anesthesia for anyone, especially a child, carries risks. It carries even more risks for someone with Williams syndrome because of the characteristic heart problem: supravalvular aortic stenosis (SVAS).

Bean's SVAS is mild at this point and he has done well with anesthesia in the past (pre- diagnosis), but his condition is progressive in nature and I am his mommy so I worry.

My husband and mother are both joining me at the hospital (I couldn't pay my mother to stay away) and my husband's parents will be spending the day with Baby J and taking him to preschool. I am so excited that they will get to see him in that environment and Baby J can't wait to show them his school!

I will post any (brief) updates on my twitter (@babyjandbean - you can link to it here and no, you don't need a twitter account) and my facebook blog page: because the two update each other automagically and I can easily post from my phone.

Thank you for keeping Bean and my family in your thoughts.

Good night - here's to me hopefully getting at least a little bit of sleep...