Stuff

The past week has been so full of activity that I haven't had much time to write anything substantial for awhile.  Waverly's birthday was wonderful.  As I stated in an earlier post, I am so glad we planned a soiree for her.  We realized that we have been too insular and we were so proud to introduce our family to friends and their children.  Matt invited some coworkers to whom he shared about Waverly & Oliver.  We invited some State Department friends we have known for years, some friends from Matt's law school days and a few special moms I have connected with since our move back.  Everyone was so sweet to Wavey and really helped us celebrate her.  Their children brought little gifts, drawings and balloons.  It was so special.  Matt and I were thrilled to invite people into our lives, because at times we feel a bit isolated.

The days leading up to her birthday tend to be incredibly emotional for me.  This year the emotions were there, but the overwhelming sadness stayed away.  I didn't watch the old videos like I have in the past though.  Seeing those moments brings such intense pain amidst the joy.

I spent Monday in NJ at a conference on Sanfilippo.  It was a last minute decision to attend, but I am very glad I did.  It was put together by 2 moms who are determined to find a treatment and cure.  I really respect their drive to be an active participant in helping their children.  I wanted to learn more about the disease from doctors and scientists who spend so much time dedicated to studying it.  I left feeling educated about Sanfilippo and so encouraged to know that there people working towards finding a cure.  At times I get discouraged - feeling like no one cares.  Orphan diseases (ie rare diseases) tend to not receive much attention from people in the research field or pharmaceutical companies.

In addition to the conference, I also was able to meet a very dear friend.  She has 2 children with Sanfilippo, a boy and a girl of similar ages to my kids, and 2 who are unaffected.  We have had a virtual friendship, sharing our thoughts via email for about a year.  She decided she wanted to attend the conference at the last minute, so that was the additional incentive I needed to make the trip to NJ.  I am so glad I did.  She is lovely.  There is a connection among all of the Sanfilippo families, but it is quite special when that connection can extend beyond the disease to the rest of our lives.  I only wish we would have had more time together.

I was given the most incredible gift this week.  Waverly said "mommy" on Tuesday night and tonight.  It has been many, many months since she had said it and I was moved to happy tears when I heard it.  It was crystal clear, too.  The disease is so bizarre.  There is sometimes no rhyme or reason to its progression.

Yesterday I was able to take some birthday cupcakes and treat bags to Wavey's school for a little birthday party they had for her.  I loved the opportunity to see her in her classroom, among her friends.  I was able to meet all of the assistants.  I gave them another tutorial on how to put in her hearing aids.  Wavey uses a Rifton chair with a large tray at school.  She is all over the place without it and she actually likes being snug in straps.  She was listening to music and playing with a moving gear toy.  Of course she was all smiles and lit up when I came into the room.  I left feeling so proud of her and so grateful for her school.