Meet the McNeil Family

Meet the McNeil Family

Sunday, November 29, 2009

Happy Thanksgiving (late)

We had a wonderful Thanksgiving.  On Tuesday afternoon we loaded up the minivan and set off for my parents' home in PA.  After a VERY long 7 hour drive (the traffic getting out of DC and through Baltimore was nightmarish), we arrived and reinforcements (ie my folks) were there to greet us.  We went out for breakfast to our favorite little diner and then spent some time with my Nana.  That night my sister and her family arrived.  Waverly loves being around so many people and spent most of the visit laughing and jumping on the couch.  Oliver is still learning how to share his train set.

Thanksgiving Day was great.  My mom had 22 people over for a delicious dinner.  I had a very difficult time last Thanksgiving.  Wavey was becoming more manic and harder to control at the table.  I was so sad that my little girl couldn't sit at the table without throwing plates, pulling the tablecloth or causing disruptions.  I remember leaving the table to cry, with my mom and sister sitting crying beside me.  This year we set up a special table for Waverly.  She did beautifully and loved all of the food.  Oliver was so tired he ate lunch and was napping during the feast.

I had to drive Matt to Philly that night, so he could catch the train back to DC.  He had to work all weekend.  I decided to stay in PA with the kids for a few extra days.  We had a great time.  The kids love their cousins!!  It is always a nice break to be back in PA.  My parents are very hands on with the kids and have learned how to care for them.  It is a huge blessing to be able to have that break when we are there.

Tuesday, November 24, 2009

Feeding Chair

Good news!!  I have been working on getting Waverly a feeding chair for 6 months.  The process is quite tedious - prescription from the doctor, letter of medical necessity, letter of support from the PT, many forms, insurance requests.  Whew!  And of course insurance will deny the request and so you have to begin the appeal process.  Well I finally received a letter last week stating approval for a positioning chair.  Today we met with a durable medical goods supplier.  He came to Wavey's PT appointment to fit her for the best chair.  It looks like we have a winner.  She will be getting a chair from Prospect Design.  It has a comfy seat, lateral supports, head support, footrest and tray.  This little piece of equipment is going to change our lives.  Currently she is in a booster seat and is able to fall out/tip it over.  So we have to hold onto the chair while she eats to keep her safe.  I also have no place to put her safely if I need to tend to Oliver or even take a quick shower.  The chair has wheels and it is close to the ground, making it easy for me to back her into it without lifting her.  (65 pounds is getting heavy!)  I am so thoroughly excited!!  And we should have it in just a few short weeks.  It is the little things.

Sunday, November 22, 2009

Waverly Says Mommy

Mommy

Waverly has been saying "mommy" non-stop the past 3 days.  It is the only word she says, except for some lyrics to songs.  I know many moms tire of being called incessantly, but it is the most precious sound to me.  I am not sure how long her ability to say this word will last or if it will fade only to return again.  But I am going to savor it each and every time.  I just do not know if that time will be the last.  So for now, each mommy is cherished.

Thursday, November 19, 2009

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.

Tuesday, November 17, 2009

Oliver's School Photo



He looks quite sad.  I don't think he enjoyed having to sit still, with someone holding his hands down away from his mouth.  However, I sure do love this picture.

Sunday, November 15, 2009

Happy Birthday, Waverly!!!


Oliver helping Wavey open one of her presents.


We got her a few great toys that are safe for chewing.


Love those lashes!


My Nana sent a Pooh card that played the theme song.  Oli loved it!


We stuck some candles in birthday cake left over from her party.


She loves hearing "Happy Birthday to Waverly".


One of the biggest smiles I have ever seen on her face.

Wavey's Birthday Party

As I mentioned in an earlier post, we threw together a last minute party for Waverly.  It was yesterday afternoon and we ended up having about 25 people there to celebrate with us.  Thankfully the rain ended about 30 minutes before the party started and began again as we were driving home.  We had a BLAST!!  I was able to focus so much of my energy on preparing for the party this past week, that the sadness wasn't able to take hold.  And having so many people there to honor Waverly was total bliss.  Thank you to all who were able to come out on such short notice.  You will forever be a part of a very special memory for Matt and I.

I didn't take as many photos as I would have liked, but here are a few to give you an idea of the fun we had.







































Saturday, November 14, 2009

Happy Birthday, Matt!!

Happy Birthday to Matt!  He is an amazing partner on our journey and I cannot imagine walking this road with anyone else.  Always an incredible husband and the best daddy in the world to Waverly & Oliver.







Wednesday, November 11, 2009

Team Sanfilippo

I have some very exciting news to share with all of you.  A collaborative between Sanfilippo families and researchers has been formed to find a viable treatment option and cure for our kids.  Here is an excerpt from the website, to give you some information:


Rare diseases, including lysosomal diseases, typically receive less attention in both basic research and therapy development than common disorders.   Team Sanfilippo is a research collaborative initiated by a group of family-based foundations to accelerate therapy development for Sanfilippo Syndrome (Mucopolysaccharidoses III).  This effort is conceived as a research collaborative consisting of scientists at academic, industrial and government institutions conducting basic, translational and clinical research on MPSIII disease.  The specific objective for which the families anticipate providing funding is to develop, within a three-year period, a potential therapy that can be tested clinically to prevent or significantly delay the onset and progress of clinical neurological disease in MPSIII patients.  The envisaged Collaborative will conduct regular teleconferences to share and discuss research findings and set objectives.  The parent-funders will conduct regular calls as well, and the entire group will meet in person at least annually.  Each of the scientists in the Collaborative will bring unique expertise which fosters collaboration between the laboratories and enhances research efforts towards the common goal of developing treatments for MPSIII disease. The research will be focused on three areas necessary for identifying potential therapies suitable for clinical trials:  High throughput screening for drug identification, animal models for drug testing, and biomarker identification.
Accomplishments to date include the identification and retention of a Project Manager with extensive pharmaceutical industry experience who has been successfully working on a similar collaborative project involving another lysosomal storage disease (Niemann Pick Type C).  As a first step in forwarding the objectives of Team Sanfilippo, a scientific meeting has been scheduled for November, 2009 to review the status of research and development related to MPSIII disease.  Attending this meeting will be a group of more than a dozen leading scientists from academic, government (including the FDA and NIH), and industrial institutions willing to share their knowledge and willingness to help formulate a strategic plan for achieving the Team Sanfilippo objectives.


Matt and I are very excited about this project.  Our geneticist from Children's Hospital, who is also a director with NIH, is going to attend the conference.  I am eager to hear her thoughts and ideas when she returns.  If you have any interest in supporting this effort, please leave a comment or email me and I can give you details.  We are all hoping to raise money to pool together to support this cause.  There has been a non-profit set up to receive donations specifically for Team Sanfilippo.


More information can be found at the Team Sanfilippo website:  http://teamsanfilippo.org/

Tuesday, November 10, 2009

Waverly's Kindergarten Photo



Birthday Party Plans

Waverly's birthday is this weekend.  Her birthday is always the most difficult day of the year for me.  What used to be a big celebration, has become quite depressing.  I hate seeing another year pass by.  We didn't have a party for her last year.  Mostly because we were down, but also because we were new to the area and not connected with many people.  We weren't planning on having one this year either, but over the weekend I was overcome with a sense to celebrate.  So I threw together a quick party plan for the weekend at a great outdoor area.  We have some friends coming with their kids and it should prove to be a special day.  I am really excited.  Now we are just hoping for good weather!

Monday, November 9, 2009

Oliver's First Field Trip











Oliver had his first field trip a few weeks ago.  His preschool class spent the morning at a local pumpkin patch.  Oli had a WONDERFUL time.  His teacher sent me these photos today and I have to say that I was moved to tears looking at them.  I am so proud of my little boy venturing off to school and befriending his classmates.  I love seeing him with his little friends.  I only wish he could continue having these moments.  He is such a good boy.

Friday, November 6, 2009

Photo Books

I have spent the past few days organizing photos.  Since our return to the US, I have taken thousands of pictures.  However, they are just sitting on our computer.  So I uploaded them to snapfish (it took forever!) and I have been working on creating photo books.  I am typically a purger - I love giving things away that we no longer use and I despise clutter.  But when it comes to photos of Waverly & Oliver, I just can't hit that delete button.  I want to remember each and every moment - eyes closed, head down and all.  I have finished 2 books thus far - our Disney World trip from last December and our Cape May weekend from the summer.  I jammed it full of my favorites and the leftovers are sitting in a photo file.  I am still not sure what I will do with all of them.  Now I just want the books delivered, so I can see them!

Looking back is so much fun.  There is a story behind each photo and creating the photo books allowed me to put text on each page...a reminder for when I am old.  Looking back is also a stark reminder of just how much Wavey has changed.  I remember being in the moment a year ago and thinking that I have lost so much of my little girl.  Yet now I look back, compare to today and realize that I should have savored the moment more.  This disease is so cruel.  Only other parents whose children suffer from disease such as Sanfilippo can understand this conflict - taking joy in today while anticipating the pain of tomorrow.  It is a terrible.

I am saving the memories.  Capturing them, so I can find comfort in them years from now.

Wednesday, November 4, 2009

Weekend Pics

Matt's parents came in for a visit this weekend.  They just sent me some of their favorite photos and I wanted to share them with you.


Oliver loves to walk in the leaves.


Matt & Oliver walking on the National Mall.


A very proud Oliver at the WWII Memorial.


Waverly outside of our apartment.


We had a little birthday party for Wavey.  (Her birthday is in 2 weeks.)  She loved the party hats, candles, ice cream cake and "Happy Birthday" song.

Monday, November 2, 2009

A First

This afternoon I went to my first Parent Teacher Conference at Waverly's school.  It was wonderful.  Wavey's teacher is a gem.  She told me over and over again just how much she and her staff adore Waverly.  And that the students really like her as well, especially a little girl who is a bit of a chatterbox and talks to Wavey constantly.  She also likes to help push Waverly's chair.  Wavey is making clear choices when given 2 items - toys, books, food items.  PE is her favorite time of the day (she does NOT take after me).  Her teacher is working with Assistive Technology to create more games/programs involving characters she likes.  The program will read a story and only progress when Wavey pushes a large button.  She is very creative and always looking for interesting ways to engage Wavey.

I left the meeting quite proud of my little girl.  She is such a lovable kid.  I am so thankful that she is in such a great classroom.  I know in speaking with other Sanfilippo families, that IEPs and school placements can be a tremendous headache.  We are so blessed.