Pretty in Purple

Today we celebrated International MPS Awareness Day. We dressed in purple, the color of MPS and courage. (I snapped this pic before school.) So many of the students and staff at their school were wearing purple. It is such a simple gesture, but it means so very much to us. Our hope is that people will ask why an entire family is wearing purple and it provides an opportunity to spread awareness.

Wavey & Ollie

Wear Purple

Watson wants to remind all of you to wear purple tomorrow!!!

May 15th - MPS Awareness Day

This Wednesday May 15th is MPS Awareness Day. Please join us by wearing PURPLE to show your support and to help us raise awareness. There are parents desperate for a cure. And there are also parents desperate for answers as to what is going on with their child. By raising awareness we can help bring about additional diagnoses and continue our push to further research so we can find a cure.

Happy Mother's Day!!

Happy Mother's Day to Shannon! Your babies will never be able to thank you in their own words, but they have named me their official spokesman. So on behalf of Waverly and Oliver: thank you for taking us to doctor and therapy appointments (as many as 10 in some weeks), advocating for us at school, keeping us with our friends and teachers at Vienna even though you have to drop us off and pick us up (in DC area traffic!), staying up top of our feeding supplies, medicines, and medical equipment, for packing lunches, making meals, and hooking me (Wavey) up for feedings every afternoon at 1:00 and every night at 9:30, for fighting with our insurance companies, for planning fantastically fun weekends and vacations, for managing our wardrobes and keeping us looking good, and especially for all the snuggles and cuddles. You have truly laid down your life for ours, and there is no greater love than that! We love you (and so does the official spokesman), and hope you have a wonderful Mother's Day!!!

Matt

Reunited

My very dear friend, Kamarah, and her family came to visit us last week for a few days. Many of you know Kamarah as one of my two friends from college who created the "A Hundred for a Home" fundraiser. She has been one of my closest friends for 16 years. And, alas, lives very far away.

It was such a treat to have her and her lovely family visit. They were *finally* able to see our house - the house made possible because of her incredible desire to help our family. Our kids were able to interact and we were able to take them site seeing around DC.

(Kamarah is a photographer, so I am positive she will have some fantastic photos to share once she is home and finishes editing them. Here are a few from my phone.)

 Kamarah & I in front of the Lincoln Memorial

 Oliver after dinner at Founding Farmers

Horse Races

 Waverly enjoying the beautiful day.

Oliver jumping as the thoroughbreds galloped past us.

Last weekend we spent the day in Maryland at a Steeplechase Race. One of Matt's colleagues invited us, thinking it would be a fun outing for the kids. It was a gorgeous day full of sunshine. There were service dogs there preparing to be placed with members of the military. There was a dog agility show. And of course horses. There were thoroughbreds, fox hunters and pony races. It was a lovely event and a wonderful way to spend the day.

For Them

I just checked in on the kids before I turned in for the night. I lingered a bit longer tonight. Their futures are weighing heavily on me at the moment. It is easy to *forget*. To rush through the day and forget the fact they my children are slowly dying. I suppose in order to cope, we have to compartmentalize. In order to survive, we have to take it one day at a time. And then like a wave rushing over me, I remember. Their sweet little bodies are slowly failing them. Their brains are slowly being destroyed, causing them to forget and bring about confusion.

So often my sadness comes from a place of how this all effects me. How am I going to deal with losing them. How am I going to survive their deaths. All valid concerns. But I forget about the havoc Sanfilippo is having on them.

Tonight as I watched them sleep - Oliver on his belly with his legs tucked under and his bum in the air, Waverly on her back clutching her Cinderella doll - I was overwhelmed thinking about how Sanfilippo has effected them. The frustration of not being able to do something they once could. Not being able to find the word Wavey so desperately wanted to say. Stiff joints. Tripping and falling for no apparent reason. No best friends for sleep overs. No notes passed during class. No t-ball or soccer games. No dance recitals or school plays. 

My sweet babies.

I want so much more for them.

Go Nats!!!

We took the kids to a Nats game yesterday afternoon. We love cheering them on and the kids enjoy being at the ballpark. It is a great way to spend an afternoon. Waverly was content holding our hands and watching everything. Oliver loved the food (soft pretzels were his favorite treat). Unfortunately every time we go to a game, the Nats lose. We are not good luck for the team.

Missing Her Smile

Sweet Waverly has been having a rough few weeks. She has not been her usual happy self. She is crying more during the day, fussing at night, and not smiling nearly as much as she typically does. It is so difficult to watch. We started her on a new medication a few days ago that her pain management doctor suggested. Thus far, we have seen some mild improvements. I hope her smile returns and we can keep her pain free.

5 Years Later

Sweet boy. My Oliver. I took this photo the night he was diagnosed. 5 years ago today.

Waverly's diagnosis had come 1 month prior. In my heart, I knew the doctor would confirm Oliver also had this horrible syndrome. Matt, my parents and friends, were all sure he would be spared. My mom instinct knew. Waiting 4 weeks for confirmation was the most difficult time in my life. I was already reeling from Waverly's diagnosis. We had battled our insurance - and won - for the chance to take the kids to Duke to see specialists about a HSCT. We immersed ourselves in learning all we could about Sanfilippo Syndrome. I spent hours on the phone with other families. Hours online reading family blogs. As much as I *knew* Oliver had it, the confirmation was devastating.

My cell phone rang as I was walking with the kids in central London. We were on Oxford Street. I had just picked Waverly up from preschool and we were enjoying a nice walk. My cell rang. I carried it in my hand volume on high, anticipating Amy's (our neurologist at CHoP) call. From her first word, I knew she was delivering bad news. If the test was negative, she would have been laughing and screaming in celebration. She was sober and straightforward. I dropped to my knees and cried on the corner of Oxford and Audley.

I remember calling Matt at the embassy. He also had his cell with him at all times, convinced I would be calling him with good news. I was just a few blocks from him, he was on his way. He got up from his desk, went to his boss and she knew we had received bad news. I remember hugging him, climbing into a taxi to head home. We both cried and stared at Oliver, riding comfortably in the bottom of the Phil & Ted's buggy.

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Now, here we are 5 years later. Still two beautifully happy kids by our side. We have survived 5 years of living with this dreadful disease. We have committed ourselves to creating memories, to enjoying each day we have with the kids. We may not look like many other families and our lives are certainly different. It has not been an easy journey. We have been grieving for 5 years, anticipating the greatest loss a person can experience. Twice.

I would give everything to make Waverly & Oliver healthy - to free them from Sanfilippo.

Judge Waverly

We went to Ohio last week to visit Matt's family. We took the kids to a children's museum in Dayton and Matt snapped this picture of Waverly is the play courtroom. Judge Waverly presiding!!

An Uncomfortable Subject

 I have written about poop in the past. Unfortunately one of the symptoms of Sanfilippo is diarrhea. We have had some incredible messes on our hands in the past. Quite literally. We have left poo covered clothes in rest areas, amusement parks, along the sides of roads, the National Mall, restaurants, birthday parties, parking lots. (I am fairly confident people tell stories of our family at the National Book Festival a number of years ago. Matt was carrying Wavey on his shoulders when the unimaginable happened. I chastised the people behind them in line to meet Elmo. How can you not tell someone there is poo dripping down their back?!?!) We always carried spare spare clothes, strollers and car seats were covered with water proof liners and towels. (Nothing worse then a poo covered car seat in the middle of no where on a long drive.) The threat of a major blow out has kept us from going places and caused us to leave early. Poop has controlled us.

Then a reprieve. Both kids seemed to be in a GI holding pattern. No major issues. Everything felt controllable.

Until now.

Constipation has reared its ugly head. Moms of  older children with Sanfilippo told me that constipation was worse. I didn't believe them. I do now. My poor sweet Wavey is struggling. This is very common for our kids as they get older. Their little systems begin to slow down and unfortunately the GI tract not exempt.

Diarrhea was a mess, but it caused no pain. The same cannot be said for constipation.

5 Years

Tomorrow it will be 5 years since Waverly was diagnosed with Sanfilippo Syndrome. 5 years. I have been in a state of reflection anticipating all of the emotions that the diagnosis anniversaries always bring. I will write more about my feelings tomorrow, but I wanted to share our diagnosis story.

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I woke up the day of our appointment at CHoP with a twinge of excitement. I was confident that we would finally find an answer to the issues we were seeing regarding Waverly's development. Why she was mouthing items? Need to chew constantly? Potty training regression? And overall lack of development. Waverly and I had meet the chief of neurology about 3 weeks prior. He ordered some lab tests and an MRI. His collegue would call me with results that came in eliminating a potential diagnosis. Still no answer, but they were still waiting on a key test. Matt flew in from London to accompany us to the appointment. I remember sitting in the waiting room for a very long time, way past our scheduled appointment time. Finally we were brought back to a room. We walked in to find Dr. Tennekoon waiting for us, along with a few other doctors I had never meet. I knew that was a bad sign. My stomach tighten and I braced myself.

Sanfilippo Syndrome.

Dr. Waldman, a resident working with us, took Waverly to one side of the room to play with some toys. I could see tears in her eyes.

I remember asking if there was anything we could do to treat it, to cure it. We were given papers from Duke about an HSCT (stem cell transplant) and told to contact them for information. We were given papers from the MPS Society about Sanfilippo. They told us there was no other option - no proven treatment.

Then I asked if she was going to die. I knew the answer even before the question left my lips. Terminal - life expectancy 10-15 years.

What about Oliver. Again, I knew he had it and 4 very long weeks of waiting confirmed it.

They wanted to take a skin sample for further testing. I remember Matt holding Waverly as 2 doctors numbed Wavey's arm and then took a metal instrument that cut a perfect circle of skin, leaving behind a scar that I still touch and kiss each time I see it. I remember how much she cried as they peeled it off. The tears in Matt's eyes watching his little girl in pain, becoming more and more aware of what the rest of her life would look like.

 Leaving the hospital is a blur. The only real memory I have is driving back up to my mom's house where we were staying at the time. From the back seat Waverly started singing "If You're Happy And You Know It". We simultaneously started laughing and weeping. The joy of the moment and the pain of our new reality.

Sweet Frog Fundraiser

Local friends, please join us this Saturday 3/16 at Sweet Frog in Fairfax for a Sanfilippo fundraiser. They have the best frozen yogurt and a percentage of your bill will be donated to the MPS Society for Sanfilippo research.

A Spring-like Day

We had a beautiful weekend here in DC. The sun was shining and it finally provided us with an opportunity to take the kids outside for some warm fresh air. For all of my complaints about living in this area, I truly enjoy the city and all it has to offer. We walked along the National Mall - Oliver loves to kick his feet along the gravel walkways. Oliver was very excited to ride the carousel and after his turn, their workers there gave him a second ride for free given how much he loves it.

Ride 4 Life

Our very dear friend, Paul, is going to bike 1000 miles from Namibia to South Africa beginning next week. He and 2 friends are riding to raise money for Sanfilippo research. His 2 children are pictured above, along with Waverly & Oliver. Please consider following their journey on facebook or visit http://www.justgiving.com/sanfilipporide4life to donate. Thanks!!!

Yum!!!

We took the kids to Bobby's Burger Palace a few weeks ago. Oliver has *finally* started expanding his palate and open to trying new foods. He loved his cheeseburger and sweet potato fries.

Our Walker

(I am trying post the video, but having difficulty.)

Waverly started using a walker at school a few weeks ago. I cannot even begin to describe my excitement when she came *walking* down the hallway. Her aide is amazing and has been working so diligently each day to keep Wavey on her feet and mobile. She had been using her wheelchair as a walker of sorts, with Waverly holding onto the handle bar. The PT brought in the walker, thinking maybe Wavey could try it and off she went. We are working with our equipment rep to purchase one that will offer a bit more support, since this one is very basic. It is incredible to see her have a bit more independence.

New Fashion Accessory

These are Waverly's new orthotics. Her walking has grown increasingly worse over the past few months.  We saw an orthopedist who wanted to do a minor surgery on her knees to try to straighten them as they continue to grow. We did not want to move forward with surgery, unless it was absolutely necessary. We met with our usual physiatrist and she made some recommendations, but given the severity of the changes we were seeing I wanted a second option. Our geneticist recommended someone new and he was fabulous. He wanted to go a different route with the orthotics and he was adamant against surgery. Both Matt and I felt confident in his ideas, so we had his team cast Waverly for a new style of orthotic.

They arrived about 2 weeks ago and thus far, we are seeing some minor improvement. Wavey tends to crouch when she walks - hips turned in and knees bent. Her feet also turn in and cause her to stumble. The change to her right leg is wonderful - knee is pulled back and her leg is much straighter. Her foot makes a full strike on the ground, instead of toe walking. Her left leg is still bent and she has more difficulty moving her leg fluidly. We will meet with the doctor again in a few weeks, once she gets comfortable in them to reassess her gait.

We are so desperate to keep her on her feet, knowing that walking with keep her body healthier. She is becoming so stiff. Each morning she wakes up crying, unable to stretch out her legs from her curled up sleep position. I have to massage her legs and stretch them out for her. She cries as she takes her first steps and each day I wonder if her little legs are simply not going to be able to withstand it any long and give out.

White House

One of Matt's colleagues graciously offered to give us a private tour of the White House this afternoon. We were able to take both of the kids (hooray for the ADA and full accessibility in the White House). It was a very special moment to take the kids inside. And as I leaned down to tell Waverly that was the Oval Office where our president works, I actually got teary eyed. I know she didn't understand, but I was moved to have her there seeing such a special room that holds so much history. While we weren't able to take photos in the West Wing of Rose Garden, we were able to take some outside and in the WH Press Room. Another great memory made for our family.