Meet the McNeil Family

Meet the McNeil Family

Monday, August 23, 2010


5 suitcases, 4 tote bags, 2 grocery bags, and 1 diaper bag later we are packed and ready to go.  Tomorrow, we are heading out for our long awaited vacation.  The kids are going to spend a week with Grandma & Grandpa, while Matt and I fly to the UK.  I won a scholarship from the MPS Society to attend the Sanfilippo conference, so we are making a little vacation out of it.  We will visit our old haunts, get together with friends and attend the conference.  It is going to be a busy, but fantastic time away for the 2 of us.  Our 12th anniversary is in a few weeks, so another reason to celebrate.  We have never left the kids for more than 1 night, so this is going to be an adventure for all of us, but they are going to be in excellent hands.  I am going to miss them tremendously and call home often, but this is going to be a wonderful experience.  Bon voyage!!

Sunday, August 22, 2010

Congratulations Matt!!

On Friday, the kids and I went down to Matt's office for his *Farewell*.  He has been on assignment to a specific office for 15 months.  It is interesting work, but with very long hours - nights, weekends and holidays.  They have a little pseudo-ceremony for outgoing staff and families are invited to attend.  I was so incredibly proud of Matt.  His colleagues all told me just how much they enjoyed working with him.  I was touched to see purple ribbons on signs all over the office.  His coworkers really got in the spirit of MPS Day.

I wasn't allowed to take my camera, so I am posting a few old photos from Matt's swearing in ceremony back in August 2006.  Wavey was SO cute!!  Matt, too.  :)

Thursday, August 19, 2010

MN Pictures

I forgot to bring my camera to MN, but I did take a few photos on my phone.  The first is Waverly after they gave her some meds to relax her before the began anesthesia.  The other is one of Oliver after he put on his hospital pjs (the top was a little small).

Tuesday, August 17, 2010


There is something special about meeting another family who has a child with Sanfilippo.  You all *get it*.  No need for explanations.

And then there are those families with whom you click not only because of the common denominator of Sanfilippo.  You simply enjoy one another's company.

This weekend we were able to spend time with 2 fantastic families.  Both moms have become dear friends. They each have a little girl with Sanfilippo.  You may remember them from the photos last year at this time.  (I forgot my camera, so no current photo.)  We walked around DC and ate lots of delicious food.  We talked.  We vented.  We understood.  You may think that sitting around a large table with 3 little girls in wheelchairs may make me feel a bit self-conscious.  But in fact, it was the complete opposite.  I felt a part of something.  I wasn't alone.  I was among friends.  It was a great feeling.

Thanks for traveling all that way to spend time with us, Cari & Jen!  I love you and your beautiful families.


I have had some time to process our experience in MN finally.  It was very bittersweet.  I am thrilled that there are doctors and pharmaceutical companies out there who are passionate about learning more and finding a cure for Sanfilippo.  I spend a lot of time meeting with doctors who have never even heard of it.  So to spend a few days among people who are studying children with the disorder, in hopes of finding a treatment, was amazing.  I was thrilled that both Waverly & Oliver could participate.  They are such lovely kids and I was excited to introduce them to everyone.  It was sad though - knowing that my kids are most likely not going to benefit from any treatments that come out of this study.  The process of bringing a treatment to trial in the US is lengthy.  Our fear is that by the time the trial comes around, Wavey & Oli are going to be too far along in the disease to be eligible.  I have not given up hope, but the realist in me in trying to keep me grounded.

The doctors seemed to be very impressed with Waverly's demeanor.  Children with Sanfilippo tend to lose their bubbly personalities as they get older.  They don't laugh or smile as much as they used to.  Wavey is still has giggly joyful as ever.  They all kept commenting on her smiles and laughs.  Oliver has always been our more serious one.  He is slower to warm up.  But he was very good about shaking hands and giving hugs to all of the staff.

I look forward to getting the report from our visit.  It will be interesting to compare these results to their past MRI and EEG.  We did get their hearing assessment results back.  Thankfully, Oliver's hearing remained the same and Waverly actually tested better than she had the last time.

We are already looking forward to heading back there in 6 months to contribute towards finding a cure.  If not for my children, for those parents who have yet to be given that devastating news.  How incredible will it be when parents are told their child has Sanfilippo, BUT there is a very successful treatment option available.  That makes it all worthwhile. 

Friday, August 13, 2010

And We're Home....Finally

Yesterday was one of the longest days ever.  Neither of the kids slept very well.  I think they were overly tired and hungry from an entire day of no eating.  We spent the morning with some friends catching up over coffee.  Then we headed off to the airport.  Oliver was acting a little funny at lunch, but I assumed he was totally exhausted and needed to sleep.  About halfway through our flight I realized that he had a fever. He was lethargic, no appetite and couldn't get comfortable.  The doctors in MN told us to watch for a fever because it could be a sign of a very serious infection.  Both of the kids had a Lumbar Puncture (spinal tap) and there are some serious, albeit rare, side effects.  There were terrible storms in DC, so we circled around Dulles for about a hour before they detoured us to Pittsburgh.  The plane needed to refuel.  The flight attendants noticed that Oliver was sick and called in to the gate to let them know there was a sick child on board.  Before we knew it, I was on the jetway with Oliver, 2 policemen and 2 EMTs.  They wanted to be sure Oliver was okay to continue flying.  We called the doctors who assured us that he would be okay, we just needed to take him to the emergency room as soon as we landed in DC.  We got back on the plane and away we went.  Our geneticist called ahead to the ER at Children's and they were waiting for us to arrive.  (She is the BEST!)  After examination, they determined he had a bad ear infection in one of his ears.  We finally made it home at 2 am.

I was upset about the ear infection.  The ENT in MN purposefully took out Oliver's working tube and within 24 hours his ear was infected.  I am not sure why he made that decision.  I should have gone with my gut and said no.  Always follow those maternal instincts!

Wednesday, August 11, 2010

And Done

It has been quite a day.  We were all up before 4:30 in order to be at the hospital in time for today's full day of testing.  Both of the kids were put under general anesthesia for about 3.5 hours.  They had an ENT exam, ABR (hearing test), MRI, blood & urine collection and the lumbar puncture.  Oliver went first and then it was Waverly's turn.  They both did beautifully!!  Oliver went under easily and woke up happy.  Wavey went under easily and woke up fairly happy.  She had some trouble with the anesthesia and was nauseous, but after they gave her some additional medication she was fine.  Matt and Oliver were able to leave the hospital in the early afternoon.  I stayed with Waverly and left the hospital 13 hours after we arrived...a very long day.

I will write more in the coming days about results and my thoughts on the week.  I am simply exhausted and desperate to head to bed.  Thanks for all of the encouraging words, thoughts and prayers.

Tuesday, August 10, 2010

Day 2 Down

It was another long day in Minnesota.  Today was all about developmental assessments.  Waverly and Oliver underwent a battery of tests to determine their developmental age across a multitude of categories - emotional, social, fine motor, gross motor, receptive language, etc.  They were both troopers.  It is tough for kids to have a toy put in front of them and complete a task, only to have the toy taken away for the next task.  Not a lot of free play time during these appointments.  They also both participated in 2 research studies for children with Sanfilippo.  One was recording brain waves when listening to consonant sounds and watching facial expressions.  The other involved fear and startle responses.  Both of them were easy and very interesting.

Tomorrow is the toughest day of our visit.  We have to be at the hospital *very* early for tests.  Both of the kids will be sedated for 3.5 hours.  They will have an MRI, ABR, blood draw, etc completed.  They will also each have a lumbar puncture.  They have never had to have one before, but it is a vital component to the study.  We have met the doctor who will be performing this procedure and we feel confident in his abilities.  Kids with MPS tend to have difficulties with anesthesia, but we haven't had any major issues in the past.  It is still going to be difficult to have both kids under for such a long amount of time at the same time.  Please say a prayer for their safety tomorrow.

Monday, August 9, 2010

Day 1 Down

Day 1 of the Natural History Study is complete.  The kids did a superb job.  We spent the first part of the morning meeting with the doctor who is in charge of the study.  He is well known and respected within the MPS world.  It was a pleasure to finally meet him.  He is lovely - both Matt and I felt very comfortable with him.  I spent some time with a developmental psychologist answering a ton of questions about Waverly & Oliver's current abilities, while Matt took the kids for a walk around campus.  We had a few hours to explore the city after lunch.  Then we met with an anesthesiologist to go over the protocol for Wednesday.  They are extremely thorough and very familiar with the specifics of MPS.

We spent the evening at the Mall of America.  The kids rode a bunch of rides in the amusement park area of the mall - they loved it.  The Swiper ride was a huge hit and had both kids giggling out loud.  Oliver loved riding a bear on the carousel and driving in Diego's van, as well.  The kids were exhausted and both fell asleep in record time.

It is exciting to finally see Sanfilippo getting some attention.  We are grateful that the doctors and pharmaceutical companies are working on finding treatment options for our kids.  We are proud that Waverly & Oliver are part of the process towards finding a cure.

Sunday, August 8, 2010

Central Time Zone

We've arrived in Minnesota.  It was a long day of travel and both kids were anxious to get to bed tonight.  The nightmare that is getting through airport security with 2 kids who have Sanfilippo went better than expected.  No alarms were set off, no bags searched and they held people up as we went through so we didn't have people breathing down our necks the entire time.  The kids both did wonderfully on the plane - lots of snacks and movies on the laptop.   It couldn't have gone smoother.

Tomorrow we will spend the entire day at the hospital.  We will begin by meeting the doctor in charge of the study and then answer a million questions about their medical history, walk through the consent process and have some non-invasive tests done.  It should be a relatively easy day.

Saturday, August 7, 2010

Natural History Study

Tomorrow we are flying to Minnesota to participate in a Natural History Study for children with Sanfilippo type A.  It is exciting to know that researchers are actively working to find a treatment option and hopefully a cure for these kids.  Shire Pharmaceuticals will gather information on the children throughout 3 full days of testing, and eventually ERT (enzyme replacement therapy) will go to trial in the US.  I am not sure if Waverly & Oliver will benefit from ERT or other forms of treatment, due to their age and the progression of the disease.  However, it feels great knowing that the information they provide is going to help other families in the future.  Maybe one day when a family is told their child has Sanfilippo, they will also be told that there is a treatment available and their child will live a long, happy life.  That is why we are taking part.

Wednesday, August 4, 2010

Yet Another

In the past 2 days I have heard from 2 families who have a child recently diagnosed with Sanfilippo.  I volunteered to speak with newly diagnosed families through the MPS Society, especially for those with multiple children affected.  I really love the opportunity.  I remember calling people in the days after we received Waverly's diagnosis.  It was such a horrible time.  I was desperate to speak with someone who understood.  I don't remember having any expectations in the conversations.  I just absorbed whatever I could from their experiences and found comfort in our similar stories.  Now I am on the other end of the phone.  The moms are just barely holding it together, weeping throughout the conversation, head swimming with so much information and so many questions.  I remember so clearly that feeling.  It is grief, not in the traditional sense, but we grieve all of our expectations, hopes and dreams.  I remember staring at Waverly and feeling like she was going to leave us at any moment.  It was hellish.

Many people told me "it will get better".  I understand where they are coming from, but it never gets better.  The sadness just deepens.  The tears flow more intermittently.  I am no longer consumed by Sanfilippo.  My emotions can feel as raw as they felt that day, especially when I hear the sobs of a mom desperate for a cure.

After each call, I hang up and cry.  I can close my eyes and remember those days so clearly.  I hate know that another mother is facing this nightmare tonight.

Monday, August 2, 2010

DC Fun

The past few days we have had such lovely weather, unlike most of the miserably hot summer.  Yesterday, we ventured down to the National Mall.  The kids had a picnic dinner in front of the White House and played in the fountians in front of the Washington Monument.  (Gotta love the perks of living in the DC area!)  This afternoon we took the kids to the zoo.  Oliver loves the farm animals and Waverly enjoys the people.  It was so nice to be able to be out and about.  Wavey did some walking, but tired out fairly quickly.  Oliver is definitely showing signs of Sanfilippo more and more.  He was more interested in licking the guardrail, than actually checking out the animals.