Thursday, April 28, 2011
Wednesday, April 27, 2011
We have had a busy few days enjoying the taste of summer here in Virginia. Oliver loves being outside, so we have been taking walks, exploring playgrounds and sitting in the sunshine. He also is desperate for the pool to open. He loves water! Today, he was so upset when we came into the apartment. He stood by the door crying. So, I grabbed my keys and we went back outside. I was curious what he wanted to do. He took my hand, walked me all the way to the clubhouse to the pool door, placing my hand on the doorknob. (He has a great memory!!) I kept telling him "no pool - pool is closed". We walked around the pool, trying every gate. I think he and I will spend a lot of time in the water this summer.
This morning I had Waverly's IEP meeting. Thankfully, these meetings have always gone smoothly for us. We have an excellent teacher and 1:1 working with Waverly. The administration and support staff have been so helpful. I went into this meeting with a little more apprehension than usual, but thankfully everything went well. I truly feel like everyone around the table has her best interests at heart. It is still a difficult meeting. It's emotional for me. For as simple as it is to agree on goals to work on for the next year, the reality of those goals begins to set it. Waverly will walk 600 feet with adult assistance. Waverly will grasp the handrail while ascending/descending stairs. Waverly will manipulate a cause/effect toy. These are not typical 2nd grade behaviors in the slightest.
I am feeling blue. Wavey was so sweet tonight. Climbing up on my lap, taking my hands and pulling on my arms....an indication that she wants to sing 'Row, Row". She was full of smiles and giggles. As I was singing to her, her lips would move. She is unable to form words anymore, but it is like her mind remembers she used to sing along. Her lips will form the beginning of a word and I wait with bated breath, desperate to hear her say row, stream, or dream. Nothing. Just a huge smile and giggle. I am thrilled to have those, but I would love to hear her voice again.
Sunday, April 24, 2011
Team Sanfilippo and The MPS Soceity can each win $25,000 if we are in the top 100 of votes for the Chase Community Giving Program. It's that easy. Plus we have a chance for more in round 2. Please vote for us! (This isn't like Pepsi, where you vote everyday, just vote ONCE before 5/2/2011.)
Here is how to vote (you need facebook);
(2) Search for"Team Sanfilippo" in the Search for Charities area of the webpage.
(3) Click on "Team Sanfilippo Foundation"
(4) Select "Vote" for Team Sanfilippo Foundation
(5) A pop-up will tell you to "LIKE" Team Sanfilippo Foundation - Hit "LIKE" in the upper left hand area of the pop-up box.
(6) In green, it should say "Thanks for Voting"
(7) Search for "The MPS Society" and do it all again
I also need you all to share the details on your walls. It takes less than 1 minute to vote. I only need you to vote ONE time. I want to see my News Feed filled with friends sharing the link. PLEASE!!!
Thank you so much!!
Saturday, April 23, 2011
As many of you know, Matt is a foreign service officer with State. It was just about 5 years ago that he began his career as a diplomat. We sold our home in Ohio and moved to DC. What started out as his dream quickly became our dream. We were going to have an incredible life, living overseas and raising our children all over the world. What an experience for the entire family!! Our love of travel, language and culture all came together into the perfect career. It was a dream come true. We lived in DC for a year, before jetting off to London to begin our first assignment. Everything was perfect.
And then the diagnosis of Sanfilippo happened. It has impacted our lives in so many ways, including Matt's career. We curtailed from our assignment in the UK and settled back into DC. We thought about leaving State all together or moving to another department office in another area of the country. After much soul searching and research, we have decided to stay in DC. Matt started the process of resigning from the foreign service last week. He will continue working for State in a civil service capacity. His new job is a perfect fit, both for him and for our family.
It is bittersweet. We are so thankful that everything has worked out for us in terms of his new assignment. However, it is difficult to say goodbye to the dream we once had. We wanted to expose Waverly & Oliver to other cultures. To actually live in another country. Learn foreign languages. Attend school. Make friends.
This isn't the way it is supposed to be.
I am sad that our dream has gone. I am jealous of friends living in Portugal, Malawi, Jordan and Nepal. I wish life could be different.
Yet we have so much. Matt has a job that he truly enjoys. We live in an area with a superb special education program. Our therapists and doctors have been wonderful. We have places like Jill's House and Access Ministry for Waverly & Oliver.
DC isn't so bad.
Thursday, April 21, 2011
May 15th is MPS Awareness Day. Please consider wearing purple (the color of MPS and courage). Do you want a purple ribbon? Leave a comment with your name and address (I am no longer publishing comments) and I will mail you one. Maybe you can have a lemonade stand - serve purple lemonade and purple iced cookies - and donate to the MPS Society. Get creative!! Help us raise awareness.
Once again April 17th passed without me noticing. In the weeks leading up, every time I opened my calendar, the day seemed to leap off of the page. 3 years. 3 years since my baby boy was diagnosed with Sanfilippo Syndrome. However, the day came and went without a thought. Until last night, when I added a dental appointment to our schedule. I realized I had missed it.
Waverly's diagnosis date has always been more difficult for me. My mother's intuition told me that day that Oliver had Sanfilippo, too. April 17th was just confirmation for everyone else who was holding onto hope that he would be spared. It was still a day that will forever haunt me. When Matt and I were back in London last fall, we passed the spot where I received the call from our neurologist in PA. We reminisced that dark day - falling to the sidewalk, calling Matt at work, taking a quiet cab ride back to our home together, calling family with the news - brief - unable to talk about it.
Yet here we are 3 years later. I am currently watching a very bouncy little boy thoroughly enjoy watching "Cinderella" with his beautiful big sister. I didn't know what our lives would look like with Sanfilippo. I envisioned something far worse that our reality. I still get giggles, hugs and snuggles. Lots of them. This isn't how it is supposed to be, but it is so much better than it could be.
To 3 more years and 4 more days....and many more.
Wednesday, April 20, 2011
On Friday we took Waverly to Children's to see a physiatrist. Unfortunately we weren't able to get in to see our usual doctor, so we had to start over with someone new. Wavey's walking has gotten worse the past few months. She seems to be in pain at times and limps. We wanted to see what we could do to try to keep her mobile for as long as possible. The doctor was nice, but not at all familiar with MPS. He described Waverly's walk as a "crouch walk" - bent knees, with pressure at the hips. He recommended Toe Offs. (If anyone has any experience with these orthotics, please let me know.)
We also saw the orthopedist yesterday. We wanted to be sure there wasn't a skeletal issue in the hips that was impacting her gait. After a quick exam and some hip x-rays, everything looked good.
Oliver has an appointment next month with our usual physiatrist. I am going to bring Waverly along to the appointment, just to be sure she agrees that we try the new orthotics. I trust her opinion more than anyone else's.
We will continue our stretching and exercising. Hopefully, we can keep Waverly on her feet for a long time. Spring and summer means lots of outdoor play, which is so good for her.
Wednesday, April 13, 2011
Matt and I are considering starting a non-profit foundation in honor of Waverly & Oliver for Sanfilippo research. Our motto would be "For Waverly. For Oliver. For a cure.", but we are trying to come up with a name. Leave your ideas in the comments, please.
Yesterday morning, Matt and I took the kids to NIH for an appointment with our geneticist. She has been the kids' doctor since we moved back to DC almost 3 years ago. She left Children's last year and we decided to keep things simple by staying within the Children's system and transferred to another geneticist. Big mistake. First impressions were not good. He hardly took any time for the appointment and he felt like his role was simply in the diagnosis and not in their care. I called our former geneticist and she was happy to see the kids at NIH. Praise God!!
She is a fantastic doctor, well versed in lysosomal storage disorders. She gave us 3 hours for the appointment!! She oversees all aspects of their care, which is exactly what we need. And she is always on the look out for news involving Sanfilippo research. I can email or call her, knowing I will always get a timely response.
I am so thankful we have her as the head of our medical team. I left the appointment relieved to have someone so knowledgeable helping me make decisions.
Monday, April 11, 2011
Oliver and I spent part of the afternoon at a local park. He explored the playground and then we had a picnic with a friend. Oliver was such a good boy. While my friend and I chatted on a blanket, he wandered around nearby. He played so calmly - walking among the trees, playing in the sand, going down the slide. We were the only ones there. It was so relaxing. And I loved the freedom of allowing him to roam, safely of course. It was a perfect spring day.
Friday, April 8, 2011
I broke down today. On the phone. While trying to make a doctor appointment for the kids. It was not pretty. It was an ugly cry. I have been trying to get to see our physical medicine doctor for over 5 weeks. I have called the appointment line a few times a week, leaving messages for the scheduler. I also have emailed her several times. No response. Finally I had enough and just started pushing each button on the automated phone line until I got someone. I was angry and the girl could tell I was very frustrated and put me directly through to a scheduler. As soon as I started speaking, I burst into tears. Through my sobs of...terminally ill.....2 children....in pain.....difficulty walking....she got the basics of what I was trying to say. I was on hold for a bit and I now have an appointment next week for Waverly and in a few weeks for Oliver. Success!! I was going to try to be firm with them; explaining that their lack of communication with parents was unacceptable. Instead, I am fairly certain the kids' files have a BIG sticker that says "crazy lady". It was worth it. I was able to secure the appointments we so desperately needed.
Thursday, April 7, 2011
We are continuing to celebrate the little things. The small accomplishments that Waverly & Oliver have. Today I was so incredibly proud of Oliver. As we were saying goodbye to his teacher, she knelt down to say goodbye to him. He looked right at her and waved in her face. A beautiful, simple, appropriate interaction. I was over the moon with excitement!! He is such a good little boy with so much to say, but no voice. That wave was a very loud statement.
Monday, April 4, 2011
It was a gorgeous day in NoVA today. The kids had off from school, so we went to our favorite park. I was on my own with both kids. For a mom who has 2 children with Sanfilippo, that is not an easy feat. We did well. Waverly spent time in her wheelchair, basking in the sun. Oliver ran around, with Waverly & I following close behind. We also had a little picnic snack - their favorite part of the excursion. I snapped this photo of them on the blanket before we started eating.
Friday, April 1, 2011
I just spent some time cuddled up next to Waverly as she slept. I am sad. Painfully sad. And emotionally exhausted. I realized that I have been in a constant state of grieving for over 3 years. Since diagnosis, we have watched Wavey slowly (and more rapidly as of late) lose her skills. I am daily noticing a change, missing a behavior. She has no more words. No more songs. Her walking is deteriorating. She cries more often. I wonder if she is in pain or if she is scared. Her ability to swallow is disappearing. Even the light in her eyes is more difficult to see. My baby is being taken from me, piece by piece. And I feel helpless.
And then I look in the next bed over and see Oliver. My beautiful baby boy. Only 4 years old and has already started the descent into regression. Losing skills he at one time mastered. Never having heard him speak a word. He has peaked in his development. We have moved from gaining skills to maintaining them.
The weight of their future is so heavy tonight.