Meet the McNeil Family

Meet the McNeil Family

Thursday, September 24, 2015


Our family had the amazing opportunity to meet a very dear friend of mine and her husband a few weeks ago. Helen and I have been exchanging emails, voxers, and face times for a few years now. She lives about as far away as one can live from us in the beautiful country of New Zealand. Although miles of land and oceans separated us, she spoke my language. She is also the parent of two children with Sanfilippo, an older daughter and a younger son. A woman who gave up her career to care for her kids, whose husband was ever present in their care. 

Since we met online a few years ago, she has watched both of her children pass away due to complications of this cruel disease. And I have grieved from afar along with her. Grieving for her loss whilst thinking about my own anticipatory grief. 

Lots of nerves accompanied her visit. I had butterflies in my stomach, hoping that our deep friendship via an Internet connection would translate into real life. And it did.  

We tripped over our words, adjusted to accents. (Matt trying to understand them saying the Getty Museum will forever be an inside joke.) Dipped in and out of talk about Sanfilippo and all other aspects of life. Matt and I were inspired by them. They exhibited grace and love. We laughed a lot and cried during a heartfelt goodbye. There wasn't enough time. 

And hanging over our conversation was the promise of seeing one another again. Matt and I would take our turn and travel to NZ. Yet we were all painfully aware that that journey will only happen after we too say goodbye to our children. 

Wednesday, September 23, 2015

First Day of School

Oliver is in 3rd grade and Waverly is in 6th grade. They are still at the same elementary school and Waverly is entering her final year with her classmates who have known her since kindergarten. I was surprisingly emotional dropping them off for their first day. I know this is going to be a great year. They are in the same class with a familiar teacher and aides who love them. Their grade level teachers are fantastic. When we went to the Open House, both teachers had desks ready in their classrooms and their names were included on all of the class lists.

Here's hoping for a fabulous 2015-2016 school year!

Settling Into Our New Normal

Waverly has had a long month. She has endured a lot of doctor appointments, new medications and changes to her routine. Thankfully she is a resilient little girl who adapted more quickly than I. 

In some positive news, her back brace is doing what is supposed to do. Whilst wearing it, the curves in her spine went from 50+ degrees to about 30 degrees. The orthopedist recommended that she wear it whenever she is awake. It has certainly added an extra long step to our morning routine, but I know the benefits outweigh the aggravation of strapping her into the brace each day.

She has also tolerated her new seizure med quite well. She was fairly sleepy that first week, but we have worked up to her full strength dose and she seems brighter. We can elicit smiles and an occasional giggle which thrills me. And (knock on wood), she hasn't had a seizure in about 2 weeks. 

I feel as if life has slowed down more for our family. It's taking me much longer to prepare the kids for their day. Simple tasks are requiring more effort and time. I seem more aware of beauty in simple things - holding her hand, taking a walk around the neighborhood, glancing at her big brown eyes in the van.

I am embracing the slowness. Embracing the simplicity of life. Thankful for today.

Friday, September 4, 2015


Waverly is on day 4 of the new seizure medication and thus far it hasn't been too bad. The doctors kept warning us of potential aggression. I almost wanted to see that in Wavey, because she has never displayed even a hint of unkindness. It looks like sleepiness and general malaise are what we will be dealing with. She is only on a partial dose this week and I am a bit concerned how drugged she will be when we reach the maximum dosage. I fear zombie-like behaviors.

I find myself growing more protective of her, especially when we are out in public. It took me a few days to work out why I was feeling this way. I think that over the past month, Sanfilippo has taken more of a hold on her. She is drooling more, appears vacant, and has lost her spark. It is more difficult to gain and maintain her eye contact. Her smile and giggle are hidden deep inside and growing impossible to find at times.

I'm sad that as we navigate life, people's perception of her is so wildly misunderstood. This snapshot of who she is in this moment is not at all definitive. I want them to see my pigtailed beauty who radiates love and kindness. I want them to be drawn to her eyes and to see the smile that used to light up across her face when she would meet a new friend. I wish I could play recordings of her infectious laugh that always brightened the room.

I miss her, yet I am so fortunate to still have her right here with me.

It is always unsettling to know if this is a phase that we will bounce out of once we get her seizures and medications under control. Or is this our new normal and I will speak of her infectious personality in the past tense.

Tuesday, September 1, 2015


It has been an incredibly long two week journey. We thought dystonia would be the diagnosis, but after seeing a few specialists they believe Waverly is having seizures. They are both terrible diagnoses, but more is known about seizures so I see it as the lesser of two evils.

We started her on a seizure medication this morning. The side effects are moodiness, aggression or drowsiness. I am keeping a close eye on her today and for the next few days as we wait to see if this particular medication is a good fit. I have been warned that there is a lot of trial and error with these meds. Hopefully we can find the best option quickly with minimal side effects.

I have to admit to being utterly exhausted throughout this ordeal. Each new phase is painful, but I have been dreading the start of seizures. Wavey has not been herself and I hope to see the twinkle come back soon. I miss her.

Sunday, August 23, 2015

The Beast That is Dystonia

Waverly has had a difficult week. 

On Tuesday afternoon we picked up her back brace. She looks fantastic in it and seems to grow 4 inches whilst wearing it. She's sits straight and even her color seems to improve. Her orthotist is fantastic and even took the time to help me adjust her wheelchair to accommodate the brace.

Here she is looking all superheroish. Super Wavey!

On Wednesday, she started having "episodes". Initially I thought they were some sort of seizure. She had 10 of them that day. Convulsing, contorting, and lots of crying. She seemed so aware of what was happening and it scared her. This did not seem typical of a seizure. So I started videoing her over the next few days. I sent the videos off to her neurologist (who is on vacation for 3 weeks) and her geneticist (who is the most fantastic doctor and responded within minutes). I also send the videos to some of my go to moms. The response was fairly consistent - Dystonia.

I have heard other parents who have children with Sanfilippo talk about the horrible beast that is Dystonia, but I never really took the time to learn about it. Ignorance is bliss when I comes to dealing with this disease. Take it as it comes.

After talking with a few friends, I started googling and reading. It is definitely the culprit. Fortunately, she has already been on a medication that can help kids with Dystonia and I have only been giving her a half dose. I went up to the full dose and today she has yet to have an episode. Her geneticist is arranging for us to meet with a neurologist who specializes in movement disorders.

A new phase.

In the midst of these episodes on Wednesday, I was about to book a very special getaway for Waverly and I. Matt has a conference in London next month, so we were going to tag along and explore some of our old haunts. I arranged care for Oliver and everything was in place. I just had to purchase the tickets. Sadly, we decided it wasn't the best time to travel with her. My heart wants to go, visit some of our favorite places from our time living in St Johns Wood, and see old friends. My gut kept telling me that this wasn't the right time.

I'm terribly sad to think I may never visit London again with Wavey.

Sunday, August 2, 2015

Out of the Comfort Zone

For those of you who remember, I had a dream a few months ago about Waverly's death. I wrote about it here without much detail, but one of the lessons learned from the nightmare was wanting to have some plans in place. This has definitely been out of Matt's comfort zone. (However, most planning falls out of his purview.) He has been incredibly supportive and we have been venturing into the funeral talk occasionally.

We had the opportunity to meet with clergy from the church we recently started attending. We wanted to introduce ourselves and also ask some difficult questions. They walked us through a service and I was struck by the beauty in the liturgy surrounding this grief filled ceremony. I was overcome with a sense of profound peace knowing what words will be said. They fully supported our choices to plan as much or as little ahead of time. And the rector said one of the most beautiful things to me, "this is the final thing you will do for your children". She acknowledged my deep love and commitment to honor my children well in their passing.

I know that some will think it odd that I found comfort in this. I know others will fully identify. As for me, I am so thankful to have a husband and church that support me in the process.

Friday, July 31, 2015


I have been thinking about identity recently. My identity. I have been entering into some new social situations that I would have felt completely comfortable in years ago. I now find myself averting eye contact and waiting for the escape. Small talk is not my friend. If the kids are with me, they become the visual expression of who I am. Because even though I know I can work to make things different, my identity has morphed into theirs. I am caretaker, therapist, nurse, insurance manager, chef, bathroom attendant, laundress, etc. I spend most of my time making sure they are well cared for and loved. I am realizing that I have been solely identifying myself as the mother of Waverly & Oliver who have Sanfilippo Syndrome. And while I love being their mother and caring for their every need, I have to cultivate me.

I am in the early stages of figuring out what this will look like. I have a very part time job as a patient representative on a board. It has been wildly fulfilling to finally have something that is totally and completely mine. However, I am mindful of the fact that I would not be able to have this position without the experience of parenting two children with a rare disease. I am going to delve into the world of a small group soon to get to know a few other women and do life together.

One of my fears is that when Waverly & Oliver pass away, I will not only have lost my children but also myself. I want to have things, no matter how small, to count on. People to stand beside me who know me. Opportunities to step back into the real world even if in short bursts. I have no idea what grieving the loss of both of my kids will look like. And I don't think there is any way to even partially prepare myself for it. Yet I want to do what I can to ensure that I am not gone along with them.

Thursday, July 30, 2015

A Bit of a Recap

It has been a long hot July, but we have managed to stay cool. The kids have spent 2 weeks at Jill's House for day camps thus far this summer. The rest of the time has been spent at home. We bought a few new pieces of equipment, especially for repositioning Waverly so she isn't in the same few chairs all day long. I found this swing online and thought it would be a nice item to add to our collection. It has a much larger footprint than I was expecting, however the kids seem to enjoy hanging out in it as seen below.

We also attended at party at Jill's House to celebrate 500,000 hours of respite provided since they opened their doors about 6 years ago. There was an ice cream truck (Oliver's favorite part of the night), BBQ, bouncy castles, therapy dogs and a pony. Oliver even reached out to show Teddy some love. As many of you know, Jill's House is very special to our family. We were thrilled to celebrate such a huge accomplishment with them.

I also took Waverly to the National Theater to see The BFG. We saw the production last year and it was so superb, I just had to take her to see it in a larger venue. We had a fantastic time. She thought the BFG was quite silly and watched the entire performance with a smile on her face.

Wednesday, July 8, 2015

Rest In Peace

Please take a moment to watch the video I shared below. It is brilliantly done and so accurately tells the story of life with Sanfilippo. Sadly, the little boy featured in the video passed away this week. Please keep Dylan's family in your thoughts and prayers. Our community is heartbroken.

Our MPS Story

Monday, July 6, 2015


It's been an emotionally difficult month. When Waverly & Oliver were diagnosed over 7 years ago, there were families we met that were also beginning their journey with Sanfilippo. You are drawn to one another because you can relate. We were all experiencing the trauma of diagnosis, the grief of the lives which should have been, and the stress of navigating this new world. And now our kids are older and their health is failing. Hospice is being called, DNRs are completed and hospital visits are becoming more commonplace. It's been overwhelming.

I remember talking with families who had older children with Sanfilippo many years ago. A few of them mentioned how they have lost contact with their fellow Sanfilippo families because it just gets too hard. I didn't understand it then. I certainly do now.

It is easier to stop calling and posting updates on Facebook. It's self-preservation. Protection.

I carry not only the sadness for my own children, but also for the beautiful children I have grown to love over the years. It hurts.

Monday, June 29, 2015

Start of Summer

The end of the school year came so quickly this year. I cannot believe Oliver will begin 3rd grade and Waverly 6th in the fall. This will be Waverly's final year at her elementary school and I am already getting emotional about it. Why can't time slow down?

We have been on summer break for about a week now. I had purposefully planned a two week break of activities, so we could simply enjoy not going to school. About a day in, I realized that we do much better when we have some structure to our days. We struggle with our home body Oliver who prefers to stay home with Mickey Mouse Clubhouse on an endless loop and Waverly who prefers to be out and about with people. Since Oliver is still walking, I am trying to force small outings while I can manage them all by myself. Thankfully day camp starts up next week. 

Waverly went to visit her orthopedist a few weeks ago and he gave us the (anticipated) news that she has scoliosis and will require a back brace. It is going to be important to straighten her as much as possible, given that her posture is a vital component to respiration. So I made an appointment with our orthotist to cast her for a brace. I don't think she will mind wearing it, but it is yet another thing to add to her body and routine.

Sunday, June 14, 2015

Cape May 2015

Our family was once again able to begin the summer season with a long weekend in Cape May. It's become a little tradition for us. We moved a little slower and spent fewer hours down on the beach, but the sea was still good for our souls. We walked a lot, ate well and allowed the calm of the ocean to refresh us. Here are a few of my favorite pictures from our time away.

Enjoying the view at the cove

Oliver riding the ferry for the first time 

Our favorite breakfast spot - The Red Store 

Waverly channeling her Jackie O and looking fab

Oliver preparing for a dip in the frigid Atlantic

Matt & Ollie playing in the surf

Wavey enjoying a walk on the beach

We love that the city supplies beach wheelchairs

Waverly looking especially beautiful at dinner 

All snuggled up on a chilly morning

A last breakfast of pancakes for this cutie

Friday, May 29, 2015

Slowing Down

Things are slowing down in our home. And for once I am not speaking only about the kids. After Waverly got so sick in January with the flu and then her hospitalization in February, I realized that I needed to make some changes for the family.

Waverly has been sleeping in a bit more each morning. And she is requiring much more time. She cannot be left alone sitting on her bed or in the bathroom, because she is simply not strong enough to sit unsupported. She needs more time to be stretched and massaged. And her walking is horrible now. The short walk from her bedroom to the bathroom is not going to be possible for much longer. We have submitted paperwork to get a Hoyer Lift for the house, so we can move her safely whilst saving our backs.

Oliver is stiffer in the mornings and his walking looks much more chaotic, especially right after waking. He typically runs down the hall to the family room after I get him dressed. He runs a bit like a pinball now, bouncing off of the walls as he makes his way. The excitement of Mickey Mouse Clubhouse is incentive enough to keep his feet running at the moment. He is also overstuffing his mouth and storing food in his cheeks like a chipmunk, which requires me to stay close as he eats his breakfast.

All of these changes have slowed us down. Slowed me down. And I am a better mom for it.

The stress of getting to school on time was becoming too much. Our doctors supplied the school with a letter stating that we needed to move the kids to a later start time. Wavey can sleep in as late as she wants. I can take time to feed Ollie. We have time for stretching and massaging, singing and tickling. It has been such a wonderful change for all of us.

I am less stressed. And caffeinated, since I now have time for a cup of coffee before beginning my day. I am happier.

Tuesday, May 12, 2015

MPS Awareness Day

 MPS Awareness Day is Friday May 15th. It is a special day for our community. It's a day to bring awareness for this rare family of diseases and highlight the amazing kids who exemplify courage every day.

Life isn't easy for Waverly & Oliver. They have lost everything they gained over their first few years of life. Wavey has lost her words, the ability to speak, to do puzzles & perform basic tasks, to use the potty, to run, to climb, to walk, to chew, to swallow, to roll over in bed, to reposition herself. And Oliver isn't far behind his big sister.

They have chronic neuropathic pain. Wavey's hip has necrosis and her bones actually grind on one another. They have seizures, hearing problems, vision issues.

They are different. They go through life getting stared at and second glances. People avoid them. People point at them.

However Waverly & Oliver are resilient and show grace. They respond with smiles and giggles. When you get eye contact with them, you can feel it in your soul. They have impacted the world around them. They remind people to be thankful for their health and to slow down so they can enjoy the little things in life.

Friday is our day to celebrate them. To wear PURPLE - the color of courage. We want our friends to take a moment on Friday and tell someone WHY they are wearing purple. Take a picture of your family and share it on social media #mpsawarenessday.

Thursday, April 30, 2015

Chill Out

A friend of mine gave us the most wonderful hand-me-downs ever. Chill Out Chairs! I have been trying to get insurance to approve them for years, without any luck. They are super comfy positioning chairs, with ottomans to elevate the legs. Waverly is developing scoliosis, so keeping her positioned straight and in the paper alignment is important. These chairs make it possible, while keeping her cozy. What a fantastic gift for Waverly & Oliver.

Tuesday, April 21, 2015


I have had two significant dreams in my lifetime. Dreams that felt so incredibly real it was difficult to return to reality upon waking.

The first was a number of years ago. Waverly had lost all of her speech and I longed to hear her sweet voice again. I dreamt that she was playing in the forest. She was wearing a lovely little dress and she was singing a song Grover used to sing on 'Sesame Street': "around, around, around, around, over, under, through". And as she said each word she would act it out - twirling around tree trucks, jumping over fallen branches and ducking under low ones.

In this particular dream, I was an observer. Watching her dance without her knowing I was there. Part of me likes to think it was a taste of her whole and healed. No more Sanfilippo encumbering her. Just a happy little girl exploring the forest, where I have always feel peace.

A few weeks ago I had another dream. A nightmare. It was horrible and I awoke screaming and crying. It is still quite personal and I want to hold the memory close to my heart, but suffice it to say it was a dream about Waverly dying. I cannot adequately express the emotions I felt when I woke up. It was the most intense pain and indescribable ache. As if I was given a brief sample of what was in store.

I haven't been able to shake the fear. Was this a premonition or preparation? Each morning I fear opening up her bedroom door.

I *thought* I had an understanding of what grief will be like, but I was reminded that I have no clue. And how does one really prepare. The tiny taste I was given while I slept was enough to terrify me and weaken me.

A few weeks have passed and I can still vividly recall the dream. I can feel the fear. I have to keep reminding myself to be present and enjoy the moment. Make memories, soak up the smiles & giggles, steal hugs, and kiss chubby cheeks.

Oliver's 7 Year Diagnosis Anniversary

Oliver's 7 year diagnosis anniversary has come and gone. It was on my iCal and I thought about a few times during the day. My mind was elsewhere and I wanted it that way. No need to dwell. I have enough instances of sorrow and grief in my everyday life to focus on a date as a source of sadness.

Friday, March 20, 2015

7 Years

Today is the anniversary of Waverly's diagnosis of Sanfilippo Syndrome. 

Seven years. Seven. Years.

I cannot believe so much time has passed since we were handed a few printouts and left with very little hope. Yet time is a funny thing and trying to remember life without the specter of Sanfilippo is growing more difficult. I struggle to remember the levity of living without the weight of a terminal diagnosis over our family. 

Returning in my mind to that day sitting at CHoP, I cannot believe the way a brief meeting with doctors can be so transformative. I walked into the room as one person and left very different. It is so clear in my mind's eye sitting in the waiting room with Matt & Waverly for the test results. Following the resident into an exam room and looking out the windows. Seeing the neurologist came in with file in hand and a solemn look on his face. And then it happened.

Your child is dying. 
No cure. 
No treatment. 
Her little brother may also have it.

Waverly was off to the side playing with the resident, who did a beautiful job keeping Wavey entertained so we could absorb the news. Smiles and giggles. Tears in the resident's eyes.

I remember wanting to scream. But tears came instead in waves of breaking down and then pulling myself together. Matt looked stunned.

They wanted to take a skin biopsy to determine what type she had. She still has a tiny perfect circle of a scar on her upper arm. A memento of that day.

Driving home and her little voice started singing "If You're Happy And You Know It" from the backseat. Blissfully ignorant of the horrible hand she was dealt.

In that moment I thought life was going to be horrible. That pain and suffering would dominate our children's short lives. And while they have had a difficult road with much more pain ahead, they are happy joyful kids. 

Seven years is a long time for perspectives to shift. Waverly may no longer speak. She cannot eat. She can walk very short distances with full support, but is otherwise confined to a wheelchair. She is incontinent and needs help with all aspects of her care. However when she smiles she lights up a room. Her giggles are contagious. She will always reach for your hand and look deep into your eyes.

We find the little joys and delight in them.

Sanfilippo Syndrome is an awful disease that is slowly taking my children away. 7 years ago, I was capable of only focusing in on their early death. All of these years later I am able to focus on the moment. The waves of sadness come in slower intervals now. Although the depth of love I have for Waverly & Oliver is more substantial, so when the waves come they knock me around a bit more. I am stronger, more compassionate, more tolerant, more patient.

I would take Sanfilippo Syndrome away from them if I could. I would love to know what fantastic little beings they would be without the trappings of the disease. I wish they didn't have to experience daily pain and frustration. I grieve thinking about the way things should be. But I have learned to embrace the moment, celebrate the small things and be thankful for today. I am honored to be their mommy. My friends who no longer have their children beside them remind me to relish every second I am given with Wavey & Ollie.