Meet the McNeil Family

Meet the McNeil Family

Saturday, October 26, 2013

Impacting Friends

We will be celebrating National Inclusion Week at the kids' school in December. I am heading it up for the PTA. Thankfully, Waverly's 4th grade teacher and classmates are really excited about the event. They have decided to take the lead and help organize the week's activities. We will be honoring a different syndrome/disability each day of the week. The kids are also raising money for Jill's House. They will be collecting change all week. They are also making rainbow loom bracelets and selling lemonade & cocoa at neighborhood stands. It is truly incredible to see such young kids excited about including kids with different abilities in their school. And wanting to educate themselves on what those kids are facing each day. Waverly & Oliver are having such a positive impact on their schoolmates.

Wavey modeling on of the loom bracelets made for her 

Wavey's classmates wearing their MPS Awareness bracelets I bought for the class

The Kennedy Center


Waverly went to the Kennedy Center last week with her 4th grade class. She looked beautiful in her new dress and mary janes. She was able to sit in a box seat, almost on the stage itself, with a few of her school friends. Both the conductor and solo violist bowed to her and said hello. It was a very special day indeed.

Tuesday, October 15, 2013

Oliver, too

I forget that Oliver has Sanfilippo sometimes. I forget that he is going to travel the same route as his big sister. He is the baby. He has been our mobile one. He stays near me and holds my hand as we guide Waverly's wheelchair. We are beginning to see more changes in him. He looks *lost* more often - eyes turn a bit vacant, stars off into space, delayed responses. Sometimes he cries. I worry the changes in his brain & body frighten and frustrate him. He is beginning to have more difficulty with usual tasks. He can no longer pull himself up into the van on his own. He gets into position, but simply doesn't have the strength to push up on his leg and climb. He is also showing more stiffness, especially when sitting for short periods of time.

My poor little boy.


Saturday, October 12, 2013

It's Here!!


Guess what Oliver did last night?!?!

My little boy finally pooped out that pesky plastic piece. As we suspected, it was the cap to his apple sauce pouch and it looks like he spent a considerable time chewing it before swallowing it. He was so happy when it came out and ran the house in excitement.

I do want to go down to CNMC and have a little talking to with the surgeons we dealt with on Wednesday in the ER. As I told them, it had not passed. And his diarrhea was most definitely a result of the plastic.

Thursday, October 10, 2013

Future Gene Therapy Trial

I had the opportunity to sit in on a conference call about Sanfilippo Syndrome and a potential gene therapy trial in the US. This is very exciting news for our community. Families have been working for many long years to raise money to further research. This particular doctor and her staff are moving forward with a Natural History Study for patients with MPS III A & B. Hopefully within the next 1.5 - 2 years they will begin a small patient trial to test the safety and efficacy of the treatment. The mouse models are showing very positive results and we hope that translate to similar results in children. Unfortunately, it is too late for Waverly & Oliver. However they have done their part and will continue to do so, to further research. With their help, I am confident a treatment will one day be available for families.

30 Days

We had another visit to the ER yesterday. Oliver again and still related to this ingested piece of plastic from two weeks ago. He has been having a lot of GI issues and they have gotten progressively worse. After 14 hours and some tests, we were told to simply go home and wait. After 30 days post procedure, if the plastic piece still hasn't passed and/or he is still experiencing GI troubles then we will go back.

This is going to be a very long 30 days.

Wednesday, October 2, 2013

Oliver's ER Visit

Last Wednesday I received a call from the school that Oliver was coughing a lot and seemed out of sorts. No fever, but they wanted me to come pick him up. I brought him home and after a few hours my mom instinct kicked in and I knew something was wrong. As I watched him I was confident that he had something stuck in his esophagus. I called our pediatrician. She was on vacation, but the nurse brought us in to see another doctor. She referred us to the ER. I called out geneticist, just to make sure we really needed to go to the ER....at 6:30 pm in DC traffic. She definitely thought we needed to go and she called ahead to alert them that we were on our way.

I am so glad she called ahead. The ER at CNMC was so busy at that time of night. We were able to get checked in immediately and whisked back to a room. It took a few hours and a few x-rays, but they were confident something was stuck in there, but it didn't show up on the x-ray. The surgeon felt most comfortable admitting us and having the morning crew deal with scoping Oliver. He would have to be put under general anesthesia and the surgeon wanted a specific doctor to handle the surgery. I was so thankful that he was familiar enough with MPS to know there are additional risks to putting him under and wanting the best team to handle the procedure.

Matt was home with a sleeping Waverly. (We didn't expect this to turn into an ordeal.) A very kind friend graciously drove down to the hospital after picking up a bag for me and Oliver for our overnight stay. We settled into a room and finally fell asleep at 1:00 am.

What should have been a 30 minute procedure turned into 2 hours. I was alone and completely frightened. The surgeon was unable to get the item out and had to push it into Oliver's stomach. It was a large yellow piece of ridged plastic. They wanted to keep him another night to make sure it didn't cause any additional problems as it made its way out. Unfortunately Oliver had a very rough recovery and was unable to keep any food down. He had to undergo further tests to confirm the plastic wasn't lodged in his stomach. Finally on the third day he began to turn a corner and they discharged us late Friday night.

He has had a difficult time recovering, slowly getting both his appetite and energy back. But I am happy to report he is feeling much better.

We are fairly confident that he ingested the plastic lid to his applesauce pouch at school on Wednesday during lunch. We will have to wait to confirm our suspicions. The GI doctor said it could take up to a month!! Lucky us. We get to check every diaper for said object.