Meet the McNeil Family

Meet the McNeil Family

Monday, September 27, 2010

Feeding Tube

This morning the kids had an appointment at Children's with our new genetics and metabolism doctor.  Our former doctor took a director position with NIH and can no longer see the kids.  She is our most favorite doctor and we are sad to not have her heading the kids' medical team anymore.  She has made herself available to us if we have any questions or problems and she is willing to consult as needed, too.  However, we needed to form a relationship with a new geneticist.  We met him this morning and he seems very nice. He is familiar with Sanflippo, which is a real bonus, considering how many doctors have never seen a patient with MPS before.

The appointment went well.  He asked a lot of questions, trying to get to know the kids and us.  He wanted to know how best he could help our family - what did we need from him.  What a great way to approach parents!

While discussing changes since our last visit, we told him that Waverly is having more trouble chewing and swallowing her food.  This is an expected problem.  Kids with Sanfilippo end up requiring a G-tube (feeding tube) at some point during the progression of the disease.  Of concern is chocking, of course.  We try to be very careful with size of bites, textures and speed of eating.  Another problem is aspiration, when a bit of food can get into the trachea and lungs.  It causes an infection and can be fatal in our kids.  Matt and I have already started to discuss the issue of a feeding tube.  We want to be proactive and not wait too long.  Waverly will still be able to take in foods orally, but the tube assures that she is getting proper nutrition.

The doctor thought it was important for us to continue to discuss the tube, because he felt that was something we would most likely need in the near future.  We most definitely do not think she needs it yet, but it is something we are going to research and talk about.

I think that having the topic of a feeding tube on the table in a realistic way was a bit jarring for me.  I knew it was something we would eventually need, but actually having to discuss it was difficult.  It was yet another reminder of what lies ahead for Waverly & Oliver.

Wednesday, September 22, 2010

Thank You, Educators!

Matt and I just returned home from Back-To-School-Night.  We were able to see Waverly & Oliver's classrooms and meet their teachers.  It was wonderful!!  I can't tell you how much it warms my heart to know that they are both surrounded by such loving, caring people.  From the administrators, to the teachers to the support staff, they are in capable and compassionate hands.  Thanks to all of you who choose to work in special education!!  We appreciate all you do.

Tuesday, September 21, 2010


I have said in previously entries that the sadness stemming from Sanfilippo is like waves.  Tonight, I felt like a gigantic wave swept over me and won't allow me to take a breath.  In as much as I try to celebrate the little things, some of those little things are reminders of this horrible disease.  And as they stack up around me, I feel as if I am drowning.

Oliver is changing.  

In the past few weeks, he has had his fingers in his mouth incessantly.  Today while we were in his OT and PT's office, he was trying to play with some cars and blocks, but all he could do was chew on them.  I could see the struggle within him.  He was getting frustrated, because he just wanted to play.  However, the oral desire was too much for him to resist.  I remember seeing this same behavior in Waverly.  He also used to "flex his muscles" when we asked him if he was strong enough (it is from a "Mickey Mouse Clubhouse" episode).  Tonight when we asked him, he became agitated and threw his cup.  I tried a few times after that and each time I got a blank stare.  Granted, he could simply be not in the mood to *perform*, but it felt different.  It felt like he couldn't figure out how to do it anymore or had forgotten.

These behaviors aren't unexpected.  I knew they would manifest eventually.  I knew we were getting near the time when we really began to see differences in Waverly.  Knowing doesn't make it any easier.

I look at my beautiful babies and I weep for them.  They deserve better.

When the waves of sorrow come crashing in on me, I become aware of all of those things around me.  The Dad teaching his little boy how to ride a bike.  The mom walking with her little girl on a scooter.  The kids in the library selecting books to read.

I wish my kids could have those same opportunities.  I wish I could have those moments and create those typical memories.

I am confident these waves will ebb and recede back where they came from.  But tonight they are washing over me, holding me under.  The tears flow, forcing me to succumb to the sadness.

Saturday, September 18, 2010


Ahh weekends!  How we have missed you.

Matt is in a new position at work, which means normal work hours.  No more weekend or evening work.  I am over the moon with excitement.  I have been making dinner each night and we have been able to sit around the table and enjoy one another each evening.  This also means we have weekends again.  Last night after we finished eating, we drove about a mile into the downtown area, got some coffee and walked with the kids.  It was so nice.  So many people were out walking, the sports fields were packed with kids.  It felt like real life.  This afternoon we headed out to a State Park about 1.5 hours away.  They had some easy hiking trails and we thought it would be fun to get back to nature with the kids.  Waverly's wheelchair did great on the dirt paths.  Wavey did some walking and riding.  Oliver walked, but mostly wanted to be on my back or up on Matt's shoulders.  Then we had a picnic dinner by the lake and some playground time.  It was a perfectly lovely day.

Thursday, September 16, 2010

The Answer is No

I have been very distracted the past several months.  My blog posts have been sporadic and maybe a bit less personal.  I had a lot on my mind, but I haven't wanted to say anything until we had some answers.

Shire Pharmaceuticals is conducting a first phase trial for Enzyme Replacement Therapy (ERT).  They are going to be placing a port into the backs of a sample group of children and administering the enzyme our kids are lacking into the CSF (cerebrospinal fluid).  The hope is some of the enzyme can pass through the Blood-Brain Barrier and begin to have an impact on the body.  They are not sure what effect the enzyme will have, but they are hoping it could either slow the disease down, stop the progression or even reverse some of the damage.  It is certainly not a cure, but it could potentially be a form of treatment for kids with Sanfilippo Type A.

The trial is being conducting in the UK and the Netherlands.  As soon as I caught wind of the study, we contacted the doctors in the UK regarding their sample group.  We wanted to be sure they knew about Waverly & Oliver.  We knew a move back to the UK would be difficult, but we were willing to do whatever possible to give our children a chance.  Matt spoke with people in the department and they were so supportive.  They were willing to transfer Matt back to the London office, so our kids would be able to participate.  Everything felt like it was coming together.

Our interactions with the doctors in the UK were not as positive.  I am sure they were being bombarded by families all over the world who wanted one of the coveted spots.  We thought we had a real shot - given the fact we had lived there perviously and Matt could easily transfer back.  Unfortunately, they decided to limit the sample to only those children residing in the UK and the Netherlands.

I have reduced this ordeal to a mere few paragraphs, but it was months of hoping.  I cannot even begin to explain the sadness.  It is something to do, instead of feeling hopeless.

Waverly & Oliver are participating in the Natural History study in MN.  That study is basically the control group for the ERT Trial.  Shire is hoping the US trial could begin as early as 2012, but given what I have learned watching medical research, that date could easily get moved back by months or even years.  We are hopeful that the European trials are going to show some kind of effectiveness, to help them push to get it to trial in the US.

For as disappointed as we are that our kids cannot participate, I am elated that Sanfilippo is getting some attention and people are actively working towards finding a cure.  Please keep those families who have children in the trial in your thoughts and prayers.  It is a huge sacrifice of time to participate, let alone the emotional toll and trust in the doctors to keep their kids safe.  They are helping future families in an incredible way.

Wednesday, September 15, 2010


I am so proud of my little boy.  He marched onto his school bus this morning without a tear.  Today was his first day taking the bus to his new school and he is able to go with Waverly, which I think really helped him feel more comfortable.  She is such a good big sister - she brings him comfort just by being there.

Monday, September 13, 2010

Hershey Park

As part of Waverly's Make-a-Wish trip, she was given a "passport" from Give Kids the World.  It allows our family a free visit to hundreds of amusement parks.  It expires next month and we have yet to use it.  We decided to take advantage of a gorgeous Saturday and drive up to Hershey for the day.  We had a great day.  Oliver loves rides!  He has never shown so much interest in them before.  He threw mini temper tantrums after we got off each ride - the bigger the tantrum the more he loved the ride.  Waverly, who used to love the big rides, was much more content on the smaller, gentler rides.

Friday, September 10, 2010


The kids and I were out the door early this morning.  We took Waverly in to have her orthotics adjusted.  She really grew this summer!  Then we were off to school.  Oliver cried as soon as we pulled into the parking lot once again.  He cried hard when I dropped him off with his teacher.  Wavey bounded up the stairs, excited to be among friends.  I really like her new 1:1.  She is very proactive.  I loved that Waverly was sitting in a regular chair, not strapped into a Rifton chair for circle time.  By the time I passed Oliver's classroom, he had stopped crying.  Phew!

Their physical education teacher stopped me outside to tell me how much he loves hearing Waverly's giggles as he enters the gym.  I also met with the school audiologist, before she checked their ears, hearing aids and FM systems.  Last night Oliver's former teacher called me to see how he is doing at his new school.  I feel so fortunate to have such a wonderful school system meeting their needs.  They are truly loved.

Thursday, September 9, 2010

Oliver's First Day

Oliver started preschool yesterday.  He is now attending the same school as Waverly.  He has a new teacher, aides and classmates - lots of adjustment.  When I dropped him off he was excited and gave his teacher a hug when he met her.  They said he had a good day and when he did get upset, they took him up to Waverly's room for a visit.  Today was more difficult for him.  As soon as we drove into the parking lot, he started crying.  I think the crying lasted most of the morning.  He will hopefully begin taking the bus with Wavey next week.  I think that will help him have a better transition.

It is always difficult to hand the kids over to someone new.  Wavey has always been easy to love and never gets upset.  Oliver is a bit more moody.  He is a total love bug!  I think because he can't speak and gets frustrated by that, he can be tougher to understand.  Hopefully my pages of notes, speaking with his former teacher and spending time with him will all give his new teacher the information she needs.

It feels good to be back in school and back on schedule.  Matt has started his new position.  We are back to family dinners and weekends together.  It is wonderful!!  I hope we are able to get into a nice rhythm soon.

Tuesday, September 7, 2010

Hi Waverly

Waverly started first grade today.  She is at the same school, but with a new teacher and 1:1.  I was able to take her up to her classroom this morning and meet everyone.  Her 1:1 seems wonderful.  She already thought out a little schedule she wanted to use with Waverly and she is going to talk with the PT about a gait belt.  Waverly will be able to walk with both hands free for balance, but her aide can hold onto the belt to keep her standing.  Her teacher was very nice.  I think Waverly is going to have another great year.

The highlight of my day happened in the school hallway.  I was walking with Waverly when another class went by.  One of the girls saw Wavey and said "Hi Waverly!".  It was wonderful!!  I had to hold back the tears.  That little girl will never know just how much her little greeting meant to me.

Monday, September 6, 2010

Travel Journal

We are exhausted, but we are home.  Our travels took us across the Atlantic and to 10 states.  We had a fantastic time!!

Matt and I had the incredible opportunity to attend a Sanfilippo conference in Northampton UK.  We decided to make a vacation out of it.  Our 12th anniversary is today, so it became our gift to one another.  We had never left the kids for more than 1 night, but my parents were willing and excited to take care of them.  My sister and her kids came down for a few days to lend a hand and my Nana also came over to assist.  We knew Waverly would be fine - she loves her Grandma & Grandpa.  We weren't sure how Oliver would do without us for an entire week.  They did GREAT!!  No crying at all.  Matt and I were able to relax and enjoy ourselves completely.

We spent the first 2 days in London.  Our friends were back in the US and allowed us to stay in their flat.  (Thanks, Gigi!!)  We did some touristy things, but we basically returned to our favorites places.  We walked the city and visited our old haunts.  It was wonderful, but a bit emotional.  London holds such special memories.  Waverly hit her developmental peak there.  It was difficult, yet so incredibly heartwarming to remember.

We then took the train to Northampton to attend the Sanfilippo conference.  It was especially exciting for Matt since this was his first MPS conference.  We heard from family members who shared their experiences as the parent or sibling of a child with Sanfilippo.  Then doctors talked about the symptoms and treatment of the syndrome.  The conference finished with presentations from researchers from all over the world on current trials and future plans for trials of various types.  It was so encouraging to hear from doctors determined to find a treatment for our kids.

After the conference, we headed down to the coast for 2 days to visit my friend Nicki and her family.  She and I got to know one another about 2 years ago via my blog.  She has 4 children, 2 of whom have Sanfilippo.  We had an amazing time.  We instantly feel in love with her children.  It was lovely to watch another family in action, with the complexities of Sanfilippo.

We returned to London for one last day, before flying home.  We relished each moment we had together.  We missed the kids tremendously, but it was so nice to have an extended break.  My mom was able to email my photos and I spoke with her each night.  Wavey loved all of the attention and Oliver loved the daily ice cream cones.  The kids were both thrilled to see us when they woke up on Wednesday (we got in well after their bedtime).  We spent the day cuddling and playing.

We drove up to New Hampshire on Thursday for a quick overnight visit.  I love New England!  We were able to explore some quant little towns and took the kids to the beach for quick visit.  Waverly loved walking in the waves.  Oliver is our little water lover.  He would have marched right into the ocean, had we let him.  He loves splashing and kicking the water.  We had a bit of a temper tantrum when it was time to head back to the car.

We were off on another road trip across New Hampshire and Vermont to New York  We spent a few days with my sister and her family.  We all went to the NY State Fair on Saturday and had a ball.  Both of the kids love crowds of people - so much to see and do and eat.  Oliver was content to run.

We said goodbye to my family this morning and completed the final leg of our journey this evening.  Home Sweet Home.  The kids were both thrilled to be reunited with their books and toys.  We still have a lot of unpacking and loads of laundry to do, but we have all day tomorrow to return to real life.  We also have to prepare for the first day of school on Tuesday.  So much to do...