Tuesday, May 31, 2011

Making Time

So, I took a break from writing for a few days. I didn't intend to but we got very busy with Memorial Day weekend festivities and when I turned on my laptop this morning (no, I didn't turn it on all weekend!) I realized that the internet was down. But it's back. And so am I.

We had a great weekend. There was no therapy. There were no doctor appointments. There was only family, friends and fun.

On Saturday, we went to a wedding for two wonderful friends. The boys joined us for the ceremony and luncheon.

They behaved. Kind of. They were quiet in church but did not stop moving. At all. Baby J made us take him to the potty 4 (yes, 4!) times during the ceremony - like we would say "no" - and Bean rolled, crawled, walked and played in the pew. We weren't the only ones, though. We were seated in the back (thank goodness!) near other kids so we did not stand out too much.

After the ceremony, we got some fresh air while we waited for the luncheon to start. Baby J shed some of his energy by running around in the grass.


They were reasonably well behaved during the luncheon, too. They didn't eat much but Bean enjoyed "talking" with everyone and Baby J ran around, chased the other kids and danced to the dinner music.



They were worn out by the time we got home and napped until 6:00! That worked out for the best because Nani and Pappy were coming to spend the night with the boys while husband joined the bride, groom and friends for the grown-up portion of the celebration and the kids were up for a fun night of play and adventure with their grandparents. 

That's right. Husband and I actually carved out some time to do something WITHOUT the kids! I was incredibly nervous because this was the first time I have ever been away from Bean at bedtime.  But he did great! He actually fell asleep for my mother and when he woke up, she was able to soothe him back to sleep. We were home around mid night but he didn't wake up again to eat until 1:30 - a great night for him! Husband and I will have to create more opportunities to get away for a bit in the future. It was so much fun to see old friends and be able to have conversations without having to chase the dudes.

On Sunday, we hung out around the house and then went to a friend's annual Memorial Day picnic. The boys had a great time. Baby J ran from the moment he got to the park until we headed home. 


He stopped, drenched in sweat, for brief snacks before continuing to, as he says, "play, play, play. all the time." Bean discovered a love for the slide. He climbed up (yes, up - he wasn't real interested in sliding down) the slide over and over and over. He also enjoyed some quality time just hanging out.




Today, we are back to the wonderful world of physical therapy and occupational therapy but I am so happy that we were able to enjoy such a normal - whatever that is - weekend. We had a wonderful time with family and friends and are looking forward to making more time for similar celebrations all summer long.

Thursday, May 26, 2011

The Graduate

Today was Baby J's last day of preschool and there was a lovely little graduation ceremony. He was so pleased with himself and I couldn't have been more proud of him.



When he started in the fall, he just wanted to do his own thing. He wasn't interested in crafts (well, he was at home but they couldn't get him to participate there). He rarely used his words (despite having quite a few) to communicate his needs. His busy little bottom couldn't sit still for circle time. He was afraid to interact with his teachers and friends and he was not even close to being potty trained.

Boy, has he come a long way. He has met and surpassed all of those things that challenged him in the fall. When he left today (in dry underpants!), he gave each of his teachers a giant bear hug and was sad to leave his friends. Oh, and he asked to visit the potty before we left!

I am so grateful to the school and his teachers for providing an environment where he could grow and thrive - a special time and place just for him. He is more than ready to enter 2-day preschool in the fall if I'm not working yet and I'm sure that he is looking forward to it just as much as I am!

When he walked to get his certificate and bubbles(!), I couldn't help but be a little sad that my little boy is growing up. It was yet another reminder that these moments are fleeting and that I need to savor every little second, even the trying ones, with him. Before I know it, he'll be graduating high school and then college and then he'll be an independent adult living an independent life. I love Baby J with all my heart and I am so proud of all that he has accomplished in his first three years.

Well done, sweet boy and please, for your mother's sake, stop growing up too fast!






Wednesday, May 25, 2011

Thrilling, Thunderous Threes


Baby J was always my (relatively) easy kid. He met milestones, ate well (with some coaxing), napped and slept well (again, with some coaxing), and had a very mild-mannered, pleasant disposition. 

He seemed to skip the "terrible two's." He would have a tantrum occasionally but nothing that would last longer than a couple of minutes.

Then he turned three.

At that time, Baby J made major developmental leaps. His vocabulary and ability to communicate exploded. He truly learned to play WITH his peers, rather than along side of them. He has mastered (most) letters, counting matching and puzzle games. He is skilled on the playground and loves to hop, skip, jump and dance. His is very focused and has learned to sit and be an active circle-time participant. He is perceptive and demonstrates sincere empathy and concern for others and can describe feelings with uncanny accuracy. It has been thrilling to watch him grow in such remarkable ways.

At the same time, when Baby J's third year rolled in, so did the thunder. Tantrums have reached unprecedented proportions and he is downright disagreeable at times. Husband and I are having a difficult time trying to get him to listen and follow direction and Baby J is getting more and more frustrated when things don't go his way. He's fighting meals, sleep and pretty much any activity with fits of rage and tears. Transitions are exceptionally difficult. He's been acting out by hitting, kicking and head-butting. Husband and I are at a loss, we don't know where the violence came from - he certainly doesn't see it at our house even on tv - and we feel like we have tried just about everything: ignore, timeout, explaining, validating feelings, first-then, etc...and no, we don't and will not spank.

We are definitely seeing signs of anxiety and some sensory issues are emerging. Last week, he had an epic meltdown because there was a fly in the house. He can't stand to get his hands dirty and sometimes needs deep pressure input to calm down. To be honest, I probably wouldn't have noticed the sensory stuff if I didn't have another child with diagnosable sensory issues.

I'm pretty sure the acting out, anxiety and sensory difficulties can be mostly attributed to having a sibling with some pretty intense special needs. Baby J, at just 3-years old, has to cope with a minimum of 4 different "special friends" visiting and playing with his brother each week and he is certainly jealous of the attention his brother receives. He is very perceptive and I am sure that as much as we try to shield him, he feeds off of the stress husband and I are dealing with. Baby J needs more positive attention and husband and I need to be more patient with him. Sometimes, we forget he's just 3. A baby, still. And he is not able to understand the reason his brother gets so much attention.

I am not at all concerned about Baby J developmentally or socially, but I hate to see him struggle like this. Husband I are working hard to find opportunities to do special one-on-one things with Baby J. But that's not enough. I have talked with his brother's occupational therapist about some ideas for sensory play and input. I am also planning to take him to the behaviorist at his pediatrician's office (they are awesome!) to try to get some ideas on how to help him cope with the anxiety - not because I'm an alarmist but because there's no reason for him to be so stressed when we can help him. 

I am not looking to medicate him but I would certainly consider some occupational therapy for a short period of time. I am also looking in to things like weighted blankets, chewey toys (oh yeah, he's been clenching his jaw and biting himself and no, he's done with the whole teething thing) and a mini trampoline to help him deal with his energy. I started doing yoga with him and we are getting outside a lot more now that the weather is better. And he loves preschool, so we need to find more opportunities for him to be around his peers.

I spend so much time focusing on Bean, his doctor appointments and therapy sessions. It's time for me to spend more time making sure that I'm meeting Baby J's emotional needs in addition to his developmental progress. I don't expect him to be cheery all the time but I'm hoping that with a little extra attention and energy, the balance will shift from mostly thunderous to primarily thrilling. Baby J is an amazing, smart, witty boy that deserves a childhood full of happiness and free of worry and I'm going to do my best to give it to him.

Tuesday, May 24, 2011

See this face?


See this face? Does it look like the face of pain to you? Nope? That's because he's not in pain. Not anymore, thank goodness!

Husband and I waited a long, long time to get to this point and we are so happy that Bean is finally in a place where his digestive troubles seem to be controlled. He struggled for a long time with reflux and food protein intolerances. Food protein intolerances are different than true food allergies because they are a digestive system response - usually related to an immature "gut" rather than an immune response.

Bean's food issues were so severe that I drastically limited my diet so that I could continue nursing him. When he was about 4 or 5 weeks old, I went on a hypoallergenic diet and eliminated dairy, soy, wheat, gluten, fish, shellfish, eggs, nuts and peanuts.

Every time I tried to reintroduce a food in to my diet, Bean ended up in a lot of pain until recently. Yes, I am still nursing him and plan to continue until he gets adequate nutrition from other food sources AND he's ready to give it up (withing reason, of course - I won't nurse him until he's 9). A few weeks ago, we trialed - and passed - almonds. Now, I feel I can safely say we passed eggs. Both of these foods are fantastic additions to both of our diets because they are filled with nutrients and calories that we both need.

Each food trial has been incredibly nerve wracking because I'm terrified that I'm poisoning his little system. I've been very reluctant to add new foods because I am so afraid to cause him unnecessary pain. But with these two important "passes," I'm gaining confidence that Bean's digestive system is finally(!) maturing. And that means that I get to eat some good food.

Now, I'm excited to try more new foods rather than dreading it. We met with his nutritionist today - she comes weekly - and discussed next steps. Oh, and he weighed in at a whopping 22 lbs on her scale - that's 1 pound in a week!!! Grow, Bean, grow!

Bean and I are going to try fish next. Tomorrow! And then, if all goes well, we'll do gluten in a couple of weeks. I am going to try shellfish soon - but not Bean, for obvious reasons. We are holding off on dairy and soy for a while - dairy because of his borderline hypercalcemia and soy because neither his nutritionist or I are all that excited with the stuff we've been reading about the effects of soy. I limit soy in Baby J's diet for the same reason. Still, I have hope that I (and Bean) will enjoy a piece of pizza one day, perhaps not too far down the road. And with that slice of pizza, I am hoping to see his beautiful, smiling, pain-free face.

Sunday, May 22, 2011

Pittsburgh Walk for Williams Syndrome 2011


We attended our first (of many) Williams walks yesterday. About 20 members of our family and family of friends came out to support Bean and raise awareness for Williams syndrome (WS). Here's Team Bean:



We were joined by over 100 other members of the local WS community. It was such a great experience to meet other families and especially some amazing children and adults with WS.


The turnout was great. It was amazing to see so many orange shirts in support of our incredible children walking the loop at the park.



The boys had a blast, too. Bean was in his own personal heaven being surrounded by so many friendly faces and there was a playground next to the picnic grove so the kids played. And played. And played. Long past the point of exhaustion.







We were truly blessed to be surrounded by family and friends. We were fortunate to make new friends and now we have an even larger network of resources and support. These families know. They've been there. They really, truly "get it."

We are so proud to be a member of the Williams syndrome family and we are eternally grateful to the volunteers that put this event together and to the Williams Syndrome Association for making it all possible. 

Friday, May 20, 2011

Balance

I've been spending a lot of time lately thinking about returning to work and with that, I've been thinking a lot about my life in general. Before having kids, I had a pretty clear idea about my interests and ideas. I loved my work. I enjoyed writing, reading and music. I had things that I liked to do and places I liked to go.

I haven't lost these interests but life revolves around my kids now.  I love them more than I ever imagined possible and I enjoy every (well, almost every) minute with them. We spend 24/7 together. When we read, we read Dr. Seuss, Elmo or other age appropriate books. We listen to kid music. We play kid games and do kid things. Now, with Bean, we spend a minimum of five hours a week in therapy and lots of time in doctor offices. It's intense and by the time I get them to sleep at night, I'm too exhausted to do much for myself.

I am a mom, and more specifically, a mother to a child with special needs. But I'm more than that. I am a wife, a sister, a daughter, a professional and a friend. I enjoy so-called intellectual activities and fun just for the sake of fun. I think it's important to have balance in life and while my children are my top priority, I know I would be a better mother if I made room for some of the things that I enjoyed before kids, too.

It has been hard for me to focus on anything besides parenting but I need to for myself, my husband, my kids and all of my relationships. I spend so much time with my kids and so much time learning about Bean's challenges and ways to help him that I sometimes have a hard time talking about anything else. They are pretty amazing and inspiring, after all.




I've been making an effort, though, to bring better balance to my life. I don't expect or want things to be like they were before kids. I love my life. I love my boys. But I do want more.

For one, I started this blog. Yes, it's about my kids but it's really for me. I am thinking and writing and loving every minute.

I started going back to yoga on Saturday mornings. I'll be missing a couple of weeks because we have so much going on but I really love it when I do go. In a way, it helps me "reset" my system for the week.

It's hard to get out and do things without the kids because Bean is still so dependent on me for sleeping and eating but we are working hard to create opportunities to do this. I don't want to be away from them much but I would like to go out every now and then to spend some time with my husband and my friends.

The next, and biggest step for me though will be to go back to work. I wrote about my desire to work again here and it hasn't changed. I know that I will be incredibly sad to be away from Baby J and Bean for any length of time but I really, really need to get back to my career. For them and me. I look just about every day and for a while, it wasn't such a big deal because there wasn't much out there. But now, I'm starting to see interesting positions open up in my field. I want so badly to start a real search but I still have a few things holding me back. Again, namely sleep and feeding issues. But it will happen. And it will be soon.

When I do get back to work and when I do other grown-up activities, I will still be a mom. I will still parent a child with special needs. But I will feel better balance in my life. I know it's not the right decision for all families but it is right for me. Baby J and Bean are the most important aspect of my life but I can't let their needs completely consume my existence. I have to do more. In the end, I will be better able to meet their needs as well as mine.

Wednesday, May 18, 2011

I Love...

I love that the boys play together now. This is one of the many benefits of having children so close in age.


At times, they fight over toys. They push. They pull. They hit. They bite. I don't like that they do these things but they are brothers. It's normal. And I do my best to provide adequate, positive discipline. But I am just so happy that they are becoming the becoming the best of friends.


They have different abilities and different interests but they always find something that they can have fun doing together. Like hanging out in a laundry basket.

I love that they are brothers and buddies. 

I love that they are built-in playmates and that they are learning from each other. 

I love that they imitate each other and try to one-up each other in cuteness - it's not possible, for the record - they are both excruciatingly cute.

I love that they fill my house and my life with squeals, laughter and love.

Tuesday, May 17, 2011

Hold Them Tight

This morning was a busy one for me and the kids - and Nani (she was here today, too.) We woke up, got dressed, got breakfast and then got ready for three, count them: 1 - 2 - 3, back-to-back therapy sessions. During the 2nd and 3rd sessions, Baby J and I ran to Whole Foods and my mother handled the extra therapy sessions. When we got back, we had lunch, a little play and then got ready for nap. It was a rushed morning, a stressful morning. I got irritated with the kids a few times and I didn't really stop to enjoy any of the boys' many sweet moments.

Then, something happened that reminded me to appreciate every single moment I have with my amazing boys.



I logged on to facebook from my phone and got the news that Corbin, a beautiful, amazing, tough little 3-month old boy with Williams syndrome passed away this morning. I have been communicating with his mother for some time. I follow her blog, facebook and caring page. I knew that he was having his third heart surgery yesterday, I knew that he faced some very challenging moments during the surgery and I knew he wasn't out of the woods. Still, my heart broke in two when I learned that at 9:25 this morning, this his sweet little heart stopped beating after putting up one heck of a fight. I can't even begin to imagine the heartbreak that his family is enduring.

So, at nap time today, I held my boys a little tighter than usual. I am so grateful for everything they bring to my life, joys and challenges, and I will not take them for granted.

Much love to you, Corbin's mommy and Godspeed, sweet Corbin. The world is a better place for having had you in it. I am a better mother because of you.

Sunday, May 15, 2011

Ch-ch-ch-changes

Now that Williams Syndrome Awareness Week has come to a close, I have made a few enhancements to my blog.

First, I have purchased my own domain. My blog link is now http://www.babyjandbean.com/. You can still get to it from the http://www.babyjandbean.blogspot.com/ link, at least for the time being, but everything will eventually move over to this new address. If you are following me on blogger or through facebook links, this should be seamless for you. If you are typing in my address or using a bookmark, please make note of the change - or even better, you can use the follow function on the side bar or subscribe via rss or email to make sure that you don't miss any posts. Thank you for following along!

Next, because I had such an overwhelmingly positive response to my Williams syndrome series, I created a page dedicated to Williams syndrome and provided direct links to the 7 posts. You can find it on the top of my blog under the header. It's called, "What is Williams Syndrome?" Or, you can bookmark this direct link. I plan to update this page with some frequency so check it often and feel free to share this with family and friends.


Finally, I added two blog rolls to the side bar on the right. The first is a list of other WS family blogs. I love sharing stories and experiences. If you have a blog that I haven't listed, please let me know and I'll be happy to add it! The second is a list of other blogs that I really enjoy. These lists are sure to evolve as I discover more awesomeness so be sure to check back often and check them out.

Thanks again for reading my blog. I am really excited about these enhancements and I hope you enjoy them, too!

Saturday, May 14, 2011

Williams Syndrome Awareness Day 7: Putting the Pieces Together


Today marks the close of Williams Syndrome Awareness Week. It's not, however, the end of efforts to raise awareness about Williams syndrome (WS) and the challenges and joys associated with the condition.

In case you are just joining this series, I will briefly summarize some of the characteristics of people affected by WS. WS is a rare genetic condition caused by a microdeletion of 20-some genes on chromosome 7. It is sporadic (random, spontaneous, not inherited) and is observed in approximately 1-10,000 births. Individuals with WS often have cardiovascular, kidney and digestive problems. Hypercalcemia and hypotonia are common as are developmental delays, sensory integration difficulties and intellectual disabilities. These disabilities are coupled with some remarkable skills and abilities. People with WS have highly social, endearing personalities. They master verbal skills. Most have a strong affinity for music and many have outstanding musical abilities including "perfect pitch."

So why raise awareness? The reasons are many fold. WS is relatively rare and few people know about it. I never heard about it before Bean.

The more that we all know, including doctors, the more likely that affected individuals will be diagnosed early and receive appropriate treatments to help them reach their fullest potential. Early intervention is critical in helping to overcome many of the challenges families and individuals face. Greater knowledge could mean more resources and opportunities of all kinds for people with WS.

More awareness means greater understanding and tolerance. We are all so quick to judge others and maybe more knowledge will help us to be more accepting of others.

I don't know what the future holds for Bean. He may live with me and husband for the rest of our lives. He may not. He may go to college. He may not. He may work. He may not. He may marry and have children one day. He may not. In the end, it doesn't matter. We love him with all we've got and we will use the knowledge we have to provide him with all the resources he needs to live the fullest life possible - the perfect life for him.

Thank you for following this series. I hope you enjoyed learning a little about Williams syndrome and my family. If you are interested in learning more about WS, visit the Williams Syndrome Association. Among many other things, I will continue to write about the ways WS impacts our family, and especially Bean. I hope you will continue on this journey with us.

---------------------------------------------------

Williams Syndrome Awareness Week may be ending but we are just getting started. Next Saturday at 10:00, our crew will be attending the Pittsburgh Walk for Williams in North Park. We would love for you to join us - let me know if you are interested! If you are unable to make it and you feel so inclined, you can make a contribution to the Williams Syndrome Association - an amazing resource on WS - in honor of my sweet Bean here. All money raised supports individuals and families affected by WS.

Williams Syndrome Awareness Day 6: Beautiful

Within about 15 minutes of meeting Bean, his geneticist told us that she was fairly certain that he had Williams syndrome (WS). He fit many of the characteristics that I wrote about earlier this week here, here, here, and here. But that wasn't all. He possessed certain physical features that are common among people with WS.

You see, there's "a look" that is associated with WS. According to the Williams Syndrome Association:
Most young children with Williams syndrome are described as having similar facial features. These features include a small upturned nose, long philtrum (upper lip length), wide mouth, full lips, small chin, and puffiness around the eyes. Blue and green-eyed children with Williams syndrome can have a prominent "starburst" or white lacy pattern on their iris. Facial features become more apparent with age.
In other words, people with WS are adorable. Some have said that their appearance, combined with their incredibly social and endearing personalities and small stature are the inspiration for elves in folklore.


Bean has "the look" - especially the beautiful, blue, starburst eyes - of a WS kid and that definitely played a role in helping his geneticist narrow down the list of possibilities. I remember looking at a few pictures of children with WS in the four weeks of waiting for his test results and waffling back and forth. Then, the night before I got the call - somehow, I just knew that call was coming - I looked at hundreds of pictures and I saw my son looking back at me in every. single. one. These faces were sweet, genuine, smiling, sincere. I knew my beautiful, precious boy had Williams syndrome. 

While he has "the look," he also fas familial traits - most notably from Husband's side of the family. Both of my sons look like Husband's side. Both are adorable. Coincidence? Husband and I make beautiful babies - WS and "typical." And I'm not biased! ;) Have I mentioned that Bean (and Baby J) is beautiful?

Friday, May 13, 2011

Williams Syndrome Awareness Day 5: Where to go next?


After getting Bean's diagnosis, I had a few moments of panic. I didn't know where to go or what to do. I was relieved to learn that there are many services and programs available for people with Williams syndrome (WS) and many other special needs. This post is not intended to be an exhaustive list. I am still very new to this world and learn something new every day. Instead, I will list the resources that I have found helpful so far. Please feel free to add your suggestions in the comments section below.

The Williams Syndrome Association is by far the best and most comprehensive resource available on WS. They provide information and support to individuals affected by WS, their families, physicians and researchers. They organize events, conferences and music camps for individuals and families to interact with other individuals and families - peer interaction is essential for people affected by WS.

I have found connecting with other parents of kids with WS and other special needs to be incredibly helpful. They get it. They just know. There are two great facebook support groups and many child centered web sites have message boards and blogs focused on special needs and genetic conditions such as babycenter, cafemom, 5 minutes for mom, blogher and blogfrog, just to name a few. Here's a few other web sites that I know of but don't have a lot of experience with: www.disabilityscoop.com, www.rarechromo.org, www.familyvoices.org, www.parenttoparent.org. I am working on a list of WS family blogs and will post them as a permanent blog roll on the side of my blog.

In terms of treatment, there are various WS clinics across the country. A list can be found here. We are looking in to taking Bean to the Philly clinic in the next few months. We are fortunate to have an excellent local pediatrician and comprehensive children's hospital. 

Also, we have had Bean enrolled in early intervention (0-3 years) services since he was 8 months old. Every state is different in their qualification procedures and costs. In PA, a child has to have a diagnosis or a 25% delay and services are free regardless of income. Bean receives 2 hours of occupational therapy, 1 hour of physical therapy, 1 hour of developmental therapy and 1 hour of nutrition weekly. He will continue to receive free services from the state as he gets older but they will taper in frequency. We will likely need to supplement the free therapy with private therapy at some point. He will need annual individual education plans (IEPs) when he goes to school and we will enlist an advocate, at least the first few times, to help us navigate the process.

Medical and therapeutic services can be very expensive, even with private insurance, so financial support is critical. For any family affected by WS, it is critical that you apply for Social Security and Medicaid. Both are federal programs. Social Security is income replacement and does consider parents' income for kids under 18. Most adults with WS will qualify. If you qualify for Social Security, you automatically qualify for Medicaid. However, if you are denied Social Security, you may still qualify for medical assistance. Each state has a waiver policy that disregards parents income but each state administers the program differently. Google your state and Medicaid waiver. We were approved for medical assistance just this week. It was a long, drawn-out process but it will be worth it. Even with a great insurance policy through Husband's employer, we've been paying $300-$500 a month in uncovered medical expenses. Medicaid should fill this gap.

WS families also need to have a financial plan for the future. Consider things like who will care for your child if s/he is not able to live on her/his own. Where will s/he live and how will you pay for it. My family is just starting to learn about this but I will tell you what I know. You have to be very careful about the amount of resources - this includes estate plans, bank accounts, beneficiaries - in your child's name because it will effect his/her ability to get disability support. You need a lawyer to help you establish a special needs trust.

Some of this stuff can be very involved and complex but I hope you found this helpful. And if you aren't a WS family - or a family affected by disability - then I hope that this helped provide perspective on some of things we need to consider. This post certainly isn't exhaustive and I welcome any and all suggestions from others.

Boo hiss

So, Blogger is back. And that's a good thing. The bad thing is that my post from Wednesday (WS day 4 re: health concerns) is gone. I started a post for day 5 yesterday on resources and Blogger ate that too before it went down. I was really enjoying doing this series for WS awareness week and I'm a bit bummed.

I'm not going to recreate day 4's post. Blogger says that Wednesday posts should only be gone temporarily. I will work on recreating Day 5 - resources and get Day 6 - on physical characteristics of Williams syndrome done before the end on the day/night. I'm on my phone now and have plans for the rest of the afternoon but i'm scheduling some quality laptop time for this evening. Tomorrow, I will conclude the series with a "putting it all together" post.

Also, I am planning to purchase my own domain so that if I ever choose to change platforms, it will be easier to migrate my posts and readers. I'll keep you posted on that :)

In the meantime, thank you for following along and for your patience. I'm looking forward to sharing more about Williams syndrome - and my family - in the coming hours and days. Check back soon!

Wednesday, May 11, 2011

Williams Syndrome Awareness Day 4: Belly Aches and Other Ailments


Earlier this week, I wrote about various heart problems associated with Williams syndrome (WS). Unfortunately,  people with WS are often affected by other serious health complications.

Hypercalcemia (elevated blood calcium levels) and kidney abnormalities are common as are digestive problems and muscle tone. Children with WS are born smaller than most other children and are much slower to gain weight and they often have low muscle tone. They must be plotted on a separate growth chart. Hearing and vision problems can develop over time. Sleep problems are almost universal. Additionally, individuals with WS are slightly more likely than the general population to suffer from epilepsy and some struggle with anxiety and attention deficit disorder. One other significant concern is that anesthesia presents serious risks for people with WS.


We are very fortunate that Bean is relatively healthy. His calcium levels are slightly elevated, even on a dairy free diet, but he does not require treatment at this time. We suspect that he has oversensitive hearing and he is mildly far-sighted. He has mild-moderate low tone but responds very well to physical therapy. He has not shown signs of epilepsy and he is too young to evaluate for anxiety or attention deficit disorder. He has had two procedures that required general anesthesia (both before his diagnosis) - head/neck MRI and an upper endoscope with biopsies - and did great with the anesthesia with the exception of being very irritable when he "came to."

Bean was born small (5 lbs 15 oz). He was 3 weeks early and has been very slow to gain weight. He is 20 months old and weighs 21 lbs now - that means that he is not on the "typical" growth chart at all. He has pretty intense feeding issues but he is maintaining his weight and places around the mean on the WS growth chart.

His most challenging health problems have been related to his digestive system. He was born with and continues to struggle with silent reflux. This has contributed greatly to his severe sleep problems. We finally seem to have him on a good combination/dosages of medication. That combined with melatonin has improved his sleep a bit. Bean also has a hiatal hernia, pretty bad constipation and suspected delayed gastric emptying as well as multiple food protein intolerances (intestinal troubles with digesting different foods). We finally have these issues under control. He and I have been free of the top 8 (dairy, soy, wheat, peanuts, tree nuts, fish, shell fish, eggs) + gluten since his birth and just recently started adding some foods in to our diet. So far, we passed almonds and are in the middle of an (almost successful) egg trial right now. 

Bean has been dealing with these health complications since birth and it was honestly a relief when we got his diagnosis in February. It explained everything.

We are very lucky that he has so few (and mild!) problems. Others have much more serious health concerns. These are not just taxing emotionally and physically, these problems can become very expensive with endless doctor and therapy appointments. Tomorrow, I will write about some of the resources available to WS families. Thanks for following along!

Tuesday, May 10, 2011

Williams Syndrome Awareness Day 3: Complexity


Most, if not all, children with WS have developmental delays. They smile, talk, giggle, and walk later than most other children. But they do eventually achieve these milestones in their own time. Additionally, 75% of adults with WS are ultimately diagnosed with some degree of intellectual disability. Fine motor, spatial reasoning and math tend to be areas of difficulty for a lot of adults with WS. People with WS also often have some sensory integration issues such as texture/feeding difficulties and hyperacusis (sensitivity to certain sounds/frequencies). A combination of physical, occupational, developmental and speech therapy can help overcome or lessen these difficulties.

These same people also have striking strengths and abilities. Yesterday, I wrote about the exceptionally social, empathetic and endearing personality associated with people with WS but that is not the only amazing thing about WS. While it's true that children with WS become verbal later than other children, speech becomes a strength and these children and adults are known to develop very strong verbal abilities. They also develop a strong affinity for music and many posses exceptional musical talents. The WS population is known to be much more likely than the general population to possess "perfect pitch." This is likely related to their hyperacusis.

It's amazing to see these complexities at work in my own son. He most definitely has developmental delays. His greatest areas of strength are social interactions and gross motor skills. He struggles most with fine motor skills, motor planning and speech. 

In terms of sensory integration, Bean seems pretty typical for a WS kid. He has extreme textural and feeding issues. He has made some progress with texture - he is now tolerating crunchy meltables like puffs and veggie straws - but struggles immensely with many foods and textures. For example, he gagged yesterday just from touching an ear of corn. Today, when we were playing in the yard, he could not touch the grass with his hands or feet without melting down. I'm am also starting to suspect that he has some degree of hyperacusis. Wind is extremely problematic for him and certain sounds really seem to bother him. He also seeks vestibular sensory input like deep pressure, rocking and being upside-down. 

Bean is not yet verbal but he does have a strong ability to "communicate" and relate to others. He is also very, very interested in music. We often use music as a tool to soothe him and it is a strong motivator when he eats (mommy or daddy will sing a song when he takes a bite.)

Not one person can be defined in absolutes and people with WS are not an exception. They are complex individuals with a fascinating combination of challenges and abilities. Bean surprises and amazes me every day.

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Stay tuned for Day 4. On Sunday, I discussed the characteristic heart problems associated with WS. Tomorrow, I will address some of the other health 


Monday, May 9, 2011

Williams Syndrome Awareness Day 2: Heart of Gold


Today is Day 2 of Williams Syndrome Awareness week and Day 2 of my 7-day series on Williams syndrome (WS). Yesterday, I posted about heart difficulties that are characteristic for people living with WS.  Today, I'm going to write a little about how despite cardiovascular problems, individuals affected by WS have a heart of gold.

If you follow me regularly, you might remember my "Joyful" post following Easter. I wrote about Bean's sheer delight with all the attention he received. One of the hallmark characteristics of WS is a highly social personality. They are exceptionally friendly, are easy to talk to, empathetic and endearing. When I talk to parents of older children and adults with WS, I am told that they are incredibly popular and everyone just adores them. Without exception.

One really interesting fact is that some research has been done on children with WS and propensity towards racism. The result? Their outgoing personalities and lack of social anxiety, no doubt genetically based, means that they do not discriminate based on race. Could they be missing the racist gene? If so, how great is that! You can find summaries of the study here and here.

People with WS can be so outgoing and trusting, though, that there are some safety concerns for parents. It is not uncommon for children with WS to approach strangers, tell him/her that they love him/her and offer a hug.  Individuals with WS can have difficulty with social cues and boundaries which can, at times, lead to feelings of isolation.

Bean most definitely has this gregarious and charming personality. He never went through "stranger danger" and craves the attention and affection of everyone that he encounters. 

When he was very young, he refused to be put down. He wanted me to hold him and interact with him all. the. time. I now know that this wasn't him being difficult, rather it was an intense need for human contact and interaction.

Every where we go, he smiles, giggles, clicks and trills with anyone that makes eye contact with him. And these people are so charmed that they can't help but smile, giggle, click and trill right back at Bean.

Today, we had his entire therapy team at the house for his annual evaluation. His greatest area of strength, by far, is social interaction. And the talk revolved around how he is the sweetest, friendliest, "flirtiest" little boy that they had encountered and I don't think that they were just saying that but I may be just a little biased.

One of the things we discussed is how we will start to deal with safety concerns once he is more mobile and independent. In an effort to reduce any possible feelings of isolation, I have every intention of surrounding him with people that love him and enjoy his affection as much as he enjoys giving it and I will afford him every opportunity possible to interact with other children his age that have WS. The Williams Syndrome Association does a fantastic job of getting WS families together at conventions, camps, walks and various events all year long.  I will do everything possible to further promote his beautiful personality as a true strength.

Tomorrow, I will touch on a few other strengths like musical ability and challenges in the form of developmental delays, intellectual disabilities and sensory integration difficulties. Please follow along to learn more about Williams syndrome and how if affects my amazing son and others like him.

Sunday, May 8, 2011

Williams Syndrome Awareness Day 1: Sweetheart


Today is Mother's Day. It is also the first day of Williams Syndrome Awareness week. If you would have asked me last year what Williams syndrome (WS) was, I would have had no idea. Oh, how things change. 

On February 11, 2011, my sweet Bean was diagnosed with WS, a rare genetic condition affecting 20-30,000 Americans. Most people don't know anything it so I am making a personal effort this week to help raise awareness. I am planning a daily post on the various characteristics associated with WS and an insider perspective on the ways families and individuals are affected.

WS is marked by a sporadic (random) microdeletion of approximately 21 genes on chromosome 7. That's a teeny-tiny 21 genes out of approximately 20-25,000 that make up a person's genetic code. One of the deleted genes is called elastin and is related to cardiovascular disease. Most individuals affected by WS have a congenital heart defect and the most common defects are pulmonic artery stenosis (narrowing of the arteries leading from the heart to the lungs) and supravalvular aortic stenosis (SVAS) (narrowing of the aortic valve). People with WS are also known to have high blood pressure.

Many, many families learn early on that their child has WS because their child has a serious heart condition,  leading to genetic testing. Pulmonic artery stenosis typically resolves on its own over time. SVAS can range from mild to severe to life threatening and often requires surgery. 

Bean has pulmonic artery stenosis and SVAS. Fortunately, in his case, both are considered "mild." He also has slightly elevated blood pressure. He needs to see a cardiologist annually for an ECG and an ECHO and bi-annually for 2-arm blood pressure checks. He does not need surgery at this time, thank goodness. 

While Bean (and many others with WS) has a delicate heart, he also has a gentle heart and endearing personality. Individuals with WS have unique and charming personalities. That will be the subject of my post tomorrow. Please follow along to learn more about my little sweetheart and others like him.

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Our family is very fortunate that Bean is relatively heart healthy. Other families have faced more challenging circumstances. The author of this blog and caring bridge page is another WS mom and blog friend of mine. Her son, Corbin, has spent most of his life in the hospital with heart troubles. She has strength, courage and grace and Corbin is one strong little dude. Please read her story and send her prayers, thoughts, good vibes - whatever it is you do, please do it for this wonderful family.

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The best source of information on WS is the Williams Syndrome Association. They do a great job of supporting families and professionals treating people with WS. Please visit their site to learn more.

It's Mother's Day and I had an egg for breakfast


This is a picture of Baby J and Bean. My sons. Because of them, I get to celebrate Mother's Day as, well, a mother.

How did I celebrate? Well, Baby J greeted me this morning a big grin and a sheepish, "happy mudder's day, mommy" and Bean followed me around with a sweet smile and lots of hugs and giggles. Husband treated me to a Amazon gift card (yay!) and I had an egg for breakfast.

The egg is a big milestone for us. You may recall that Bean has a number of food protein intolerances and as a result, I have drastically limited my diet so that I can nurse him. Egg is one of the foods that I eliminated. 

But it's time for me to start introducing more foods in to my diet and, eventually, in to Bean's diet. You may remember that we trialed almonds and passed a few weeks ago. Eggs are next on the agenda.

A couple of days ago, both Bean and I started on otherwise allergy-friendly commercially prepared foods that have egg baked in. We went that route because commercially prepared foods are cooked at a higher temp, rendering the food safer and making a reaction much less likely. And he didn't react. So now it's time to try eggs directly. Well, I am trying them first and if he doesn't react to the traces of egg protein in my milk, then we will try it directly in his diet. The last time we tried egg, he had a very strong gastro reaction within a few hours so I'm expecting to see something soon if it's going to be a problem. We need to give it a full week before considering it a pass but so far, so good. I'm keeping my fingers crossed. 

It's incredibly important to me that I get more sources of nutrition in to Bean's diet so that he can be healthier, gain more weight and get the nutrition he needs. And today was the best day to take this leap. The best Mother's Day gift, after all, is to have healthy, happy children.

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Today is also special because it is the start of Williams Syndrome Awareness week. Families across the country are participating in walks, fundraisers and various other events. We will be walking with other local families on May 21 in North Park. You can find info here. We would love to see you there. If you are not able to make it, please consider a contribution to the Williams Syndrome Association in honor of sweet Bean and all individuals affected by Williams syndrome.

Also, in a personal effort to raise awareness this week, I will be doing a post a day about some of the characteristics associated with Williams syndrome. I hope you will follow the series!


Friday, May 6, 2011

Drama

I made a quick run to Whole Foods and Trader Joe's last night and this is what I came home to:


Baby J was passed out on the couch. That never happens. He's not like other kids. He doesn't play so hard that he passes out. He doesn't sleep in the car or fall asleep watching TV. He ONLY sleeps in his bed. So why was this child sleeping peacefully on my couch?

Well, it's all due to diaper drama. We are still living in potty training h*ll. No, my three-year old child is not completely potty trained yet. And I'm ok with that. Kind of. He has #1 down to a science, at least during waking hours but he is having a tremendously difficult time with #2.  For the longest time, he didn't care if he went in his pants, but just recently decided that he doesn't like that sensation. Who would? But he is still terrified to go in the potty. So, he has been staging a potty stand-off.

Baby J has spent most of the week dancing around the house crying and saying that his bum hurts and he's afraid to poop. We tried letting him go in underpants. We tried letting him go in diapers. We tried getting him to go in the potty. He just didn't want to do it. We've tried adding fiber and lots of water to his diet. He won't drink juice. Warm baths, dance parties, you name it. By yesterday, his discomfort had reached the point that it was affecting his sleep and eating.

He had preschool in the morning and usually naps pretty well on school days. Not yesterday. He rolled around in bed and cried about hurting. When he got up, he danced around his room, walking backwards with his hand on his bottom. Still refusing to go with any of the options presented. He didn't eat much for lunch or dinner. The diaper drama had reached a fevered pitch.

When I was out at the store, I started thinking about calling the pediatrician in the morning to talk about anything I can give him to help him out. And then, as I was getting in to my car, I had a picture show up on my phone. It's not one that I can post here. I laughed so hard I cried and then realized that I was crying tears of relief. The diaper drama was over, at least for the day.

When I walked in to the house, I was loudly congratulating Baby J until I realized that he was sound asleep on the couch. His daddy got him dressed and carried him up to bed all without waking him and he slept until 8 this morning. That has never happened before. I guess he was quite literally pooped out!


Thursday, May 5, 2011

Can Do


Lately, I've been stalking my mailbox waiting for Bean's medical assistance approval/denial letter to arrive. It didn't come today. Instead, I received the full report from our visit to the CP Clinic. No, he doesn't have CP, but the clinic sees children with a wide range of conditions and it was a great way to get him evaluated by a team of experts at one time. Our appointment was a couple of weeks ago. You can read about it here.

Anyway, I knew the letter would be coming soon and I knew what it would say.  He has low tone and pronates, but doesn't need orthotics. At least not yet. He has pretty severe feeding issues. He is non-verbal at 20-months old. He likely has hyperacusis. He is behind his "typical" peers across the board - otherwise known as global developmental delay. He needs to see even more specialists. He needs to continue with his current therapies, intensify feeding therapy and add speech therapy. 

None of this is new to me, but still there's something about seeing it in writing that makes it a little tougher to swallow. It's even tougher because we are scheduled to do his one-year early intervention evaluation on Monday and also because we need to take him to the Childhood Developmental Unit at Children's. Both of those will also result in written reports that will detail just how far behind he is and tell me all the things he isn't doing - as if I don't already know...

I prefer to look at the things he IS doing. 

Bean started early intervention services when he was around 8 months old. At that time, he wasn't sitting. Not even close. He showed no interest in toys. None. Zero. Zilch. He gagged on the smoothest of purees and the ONLY food he would eat at that time was pears. He couldn't ride in the car, go out in the wind or be around any abrupt noises without totally melting down. In the last twelve months, Bean has grown and developed in so many ways.

Since last May, Bean has learned to sit, crawl, pull up, cruise, stand up and is now walking 2-5 feet independently many, many times a day. His physical therapist is so surprised and pleased with this progress. She didn't think he would walk until he was two. She was wrong.

Since last May, Bean has developed a love for playing with toys - so much so that we are having to (gently) discipline him for stealing toys from his brother. He particularly enjoys toys that do something or make music.

Since last May, Bean has started eating a variety of foods and textures. I am now able to feed him what we are having for dinner, pureed. He has made a lot of progress very recently with finger foods, too - his favorite things to munch on are puffs, Pop Chips and Veggie Straws. He's losing interest in purees and is beginning to develop the oral motor skills to eat "real" food.

Since last May, Bean has started making a few distinct sounds, learned a few signs and has become a master of communication within his abilities. 

Since last May, Bean has turned in to a little boy that enjoys going for car rides and will even sleep in the car sometimes. He has learned to tolerate (most) wind and (many) noises.

Since last May, Bean has made more progress than I, or anyone, ever could have imagined.

I will remember that on Monday when we sit down with his team of therapists to discuss his (dis)abilities. I will remember that when we go to the Childhood Developmental Unit to evaluate his skills. I will remember that when I read the reports that tell me how behind he is. 

Bean doesn't focus on the things he can't do. He puts one foot in front of the other and tries new things every day. I'm going to try to be more like him. I am realistic and know he has a long way to go. But instead of focusing on the things he can't do, I resolve to focus on the things he can do.

Wednesday, May 4, 2011

It saved my life

I would not have survived the first year of Bean's life without babywearing.


He was exceptionally irritable and cried constantly. Every time I tried to put him down, he would crumble in to a full-scale meltdown. It wasn't a situation that I could let him fuss a little bit to learn to soothe himself. He never just fussed a bit. Within seconds he would be crying, screaming, choking, gagging, hyperventilating and sick to his stomach. The only way to keep him calm was to have him attached to me. All the time.

Aside from keeping him relatively happy, babywearing helped me keep my sanity. It's beyond difficult to listen to a crying child all hours of the day and night. It was also the only way that I got anything done, even basic things like eating.

I have always been interested in the idea of babywearing. I like the idea of having my children close and and secure. I received a Bjorn as a shower gift with Baby J. I tried to use it and I tried to love it but it just didn't work for us. It was incredibly uncomfortable for both me and Baby J. I have since learned that despite being expensive and the most readily available carrier, it is also inferior to many others and can also be considered, in some ways to be unsafe. Bjorns and similar carriers are known as "crotch danglers" in the babywearing community (yes, there's a community - go check out thebabywearer.com) for very literal reasons. They can cause hip and back problems. I wish I had known that before I registered for one. I figured it out on my own though because it killed my back and Baby J hated it.

When I was pregnant with Bean, I knew I wanted to wear him since I was going to have two under two and I would need my hands to care for his super active brother. One day, I saw a Moby wrap for half off on babysteals and ordered it. Little did I know that it was the start of a minor addition for me and a great source of comfort for Bean.



A stretchy wrap like a Moby is great for the newborn stage. It got us through those countless hours of incessant tears. I really credit it with reducing his reflux because he was upright and had moderate pressure against his tummy.

If I didn't wear him when we were out and about, we would have to deal with an epic meltdown. Having him in a carrier also enabled me to nurse him discretely when we were running errands. He never ate well. A minute or two at a time. So he nursed very frequently and I wouldn't have been able to go anywhere if it wouldn't have been for my carriers. It became a way of life for us.

When he started to get too heavy for the Moby, I decided to try out some other carriers. I now own a Babyhawk, woven wrap, gauze wrap and a Boba. I bought Husband an Ergo so he could get in on the fun. It sounds like a lot of carriers, and it is, but they all served a purpose.






Baby J even developed a love for being worn. Every time Bean went up, Baby J wanted to be worn, too.


Bean doesn't need to be worn so much anymore. He's more interested in playing now when we are at home and he likes to be able to move around and look at things when we are out and about. I still wear him sometimes, though and we really enjoy the closeness. I'll never forget that that first year. Babywearing saved my life and my sanity. And there's nothing better than sweet baby snuggles...

Monday, May 2, 2011

Genetics Update

Bean had his first genetics follow up today following his Williams syndrome diagnosis. The appointment was scheduled for 9:30. Unfortunately, Bean likes to sleep in most days until 9:00 or after. He struggles to sleep all night long and eventually crashes hard around six in the morning. We needed to leave the house by 8:15 to allow for rush hour and Monday morning registration at Children's so we had to wake him early. He handled it pretty well and was in a reasonably good mood.

Then, when we got to the hospital, we waited until almost 11 to be paged in to an exam room. This has never happened to us before. Usually, they start paging us within minutes of registration. Genetics is moving their offices in the hospital and they are having space issues. That and his doctor's first appointment apparently ran REALLY long. Baby J kept himself occupied with the various activities, cartoons and videos on his daddy's phone. Bean got irritated very quickly because he was so bored. He didn't want to eat. He didn't want to sit in his stroller. He didn't want to be held. He only wanted to be on the floor and playing. I was the mean mama that said no to that. Hospital floors are disgusting. 

He threw his usual tantrum about getting his weight and height checked. On a side note, he is regaining the weight (1.5 lbs!) that he lost when he was sick! He did pretty well through the appointment, alternating between happy, interactive Bean and tired fussy baby. 

The geneticist is supportive of us taking him to a WS clinic. She is also encouraging Husband and I to be tested to make sure, although it is next to impossible, that we don't have a chromosome 7 deletion, inversion or duplication. We plan to pursue the test and are just waiting on insurance approval. The doctor agreed that we should go to an ENT rather than an audiologist. We will also be adding two additional specialists to Bean's medical team. She is sending us to an endocrinologist for his borderline calcium levels and a childhood developmental specialist. The developmental specialist will keep track of his progress and help us ensure that we are getting all the supports that he needs. S/he will also help us determine what his needs will be for school and support us through the IEP process when it's time.

Even though we had to wait a long time, it was a worthwhile appointment. Bean was exhausted and fell asleep in the car on the way home and both kids ended up taking a nice long nap this afternoon. He is in a much better mood this evening and doesn't want to stop playing for his bath.