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!