Doing okay

We get asked a lot how Daniel is doing. It's a difficult question to answer briefly or as part of hi, how are you. Dan has good days and bad days, but during each one, he gets a little bit worse. When I think of the answer to how is he doing, the first response in my head is, he still has MLD and he is still dying. It's not what I say but that thought and the reminder of my son's terminal illness, colors any answer I give, makes the response just a little bit harder to say, and gives me a sad smile that, for my companion in the conversation, is supposed to be pleasant but that really says that I am falling part on the inside.

So what I normally say is that he is doing ok. Sometimes I will add in a bit of what's happened recently, pneumonia, problems sleeping, and, on occasion, the joy of hearing a word he has not said in a long time such as mom, dad, or, I swear he said this two days ago, hurry up.

I know you all care about Daniel and really do want to know how he is. Here is the complete and total response of how he is doing. You will almost never hear this because it that almost never fits into a conversation, unless we are seated down one-on-one and you say you really want to know.

Overall, I can't say that the disease progression has plateaued but the weekly changes are not as drastic as they used to be. Daniel cannot sit up or roll over anymore. He has occasionally head control. He can still move his head from side to side but holding it up is increasingly hard for him. If he does it for longer than 10 seconds, it's a good day. He can still move his arms but he only does it when he really wants something now. Sadly, he almost never points anymore. Pointing was his primary way of communicating what he wanted. He does not have that degree of fine motor control anymore. He mostly used his hands as fists now.  On the positive, we haven't noticed any problems with hearing or vision yet.

Daniel's ability to move or speak on a day to day basis varies. He was very sick the week of Thanksgiving. He had a fever of about 101 and he was completely uninterested in moving. We talked to our nurse and she thought it was a virus. We waited for it to run its course but on Thanksgiving Day his fever spiked to 103.6. We went to the ER and even though his lungs sounded clear - he had a doctor's appointment on Monday and Wednesday that week so there was lot of lung listening - the x-ray showed that he had pneumonia. After two days of antibiotics, he perked up. We heard Mom and Dad. We were thrilled! We hadn't heard those words since the summer.

The pneumonia got better but our most persistent problem has been Daniel's leg spasms. The peripheral neuropathy that accompanies MLD has been destroying Daniel's feet for over a year. He has always fought wearing AFO's or any stretches. The muscles in his lower legs are becoming so tight that his right foot is almost impossible to get straight. Daniel's leg will shake and he will scream with pain. There were several days where he seemed to cry all day and nights when he doesn't sleep. Valium and Oxycodone wouldn't work in quelling the pain.

We tried Neurontin, thinking that this maybe this was related to neuropathic pain. It was hard to tell sometimes if Daniel was getting upset and causing the spasms or if the spasms came first. The drug seemed to help but after several days, Daniel became very lethargic and non-responsive. Since this was happening at the same time he was getting sick with pneumonia, it was hard to tell what was making him so sleepy. Regardless, by the time he was diagnosed with pneumonia, we had stopped the Neurontin. He about two good days as the pneumonia was clearing up. Then he started having spasms again. I suggested several meds to our doctors but everyone seemed to want to wait for the Botox injections before starting new meds.

The Botox injections....that should be a post in itself. The very short version is Daniel had them done locally on Friday. He has two casts on right now that he hates. The casts are there to put the foot in the proper position so when the Botox, that weakens that super tight muscle, kicks in, it's effect is maximized. Daniel and I feel the same way about them. I absolutely hate them and want them to come off. I really don't want him to be upset like this. Dan, however, is a proponent and rightly thinks we should wait as long as possible to take them off. He wants to, again rightly, maximize the long-term benefits of the Botox. Daniel every day is a little more used to the casts and I have to admit that it's for the best he keeps them on. They come off Monday.

Sometimes, especially lately when he has been sick, Daniel is content to just sit and do nothing. This is super weird and very hard to get used to. It's this, more than anything else, that tells me just how far the disease has progressed. Imagine a three-year old just staring into space, watching TV, and almost non-reactive to attempts to engage him. I am sure that most of this is the fever or a virus, but it scares me. That's what he is like as I write this.

I hope he is better tomorrow. If you ask me how he is doing, I will probably say ok.

The Christmas Card

Again, it's been a while since I've posted. A lot has happen and every time I think of posting again, I am overwhelmed by covering all that has happened. I decided today that I am going to release myself from that. If you want to see all the stuff that has happened in the last few months - at least the fun stuff - please visit the Facebook site. I know that not all of your have Facebook. Some of what has happened will be re-posted as it comes up again. Please be patient. In the meantime, back to our irregularly scheduled blog....

I remember when I was a child receiving Christmas cards. I don't remember sending them though. We were never the type of family-for various reasons- that did that type of thing. When I got older, I decided to take up the tradition. I would search for the perfect Christmas card every year. I often stressed, bought three types, and then never mailed them.

In the last few years with the explosion of Shutterfly and the like, the annual Christmas card, and its accompanying stress, has gone up a notch. It's not about whether you have a foil lined envelope anymore. We need to find a way to encapsulate our year through photos and sometimes text to people whom we often never see. Do you get a portrait done or do you use casual shots from the year? How many photos do you include? Who is on your card? Is it just your dog? Since my stepdaughter rarely sees us in the winter, our Christmas card was a photo from a portrait session scheduled well in advance and a brief summary of our year on back. That was how we answered those questions.

This year I don't know what to do.

For us, this year's Christmas card is loaded with subtext. This is the year that we found out Daniel has MLD and is dying. Do I just slap a happy photo on and call it a day? Do I include a summary of what happened this year? I couldn't imagine addressing Daniel's medical issues in a pithy, cheerful note. However, ignoring it would be leaving out the most important thing that has ever happened in our lives.

I decided to put together some happy photos and call it a day. Then I saw this card and this one. They were adorable with a great format. They let you tell everyone about your year in a fun and interesting way. I immediately decided against it. I would send a card but that's it. I was not going to tell people about our year on the card. In fact, I probably never will again. It's only going to get worse from here on out. Daniel is going to get sicker. Then I realized something.

This year has been amazing and I wanted to share that on our Christmas card. Yes, Daniel was diagnosed with MLD. Yes, this year we had to face the greatest pain a parent can have, that of losing a child. But in those moments and in the bucket list items we did with Daniel, we also found the greatest joy in our life. I have never loved my family, my husband, or my son as much as I have this year. I never knew the power of community before it formed around us. We visited Disney twice. Daniel rode in three helicopters, numerous firetrucks, and got to sit in a real NASCAR racecar. He did more in these last few months than many do in decades.

We carry the devastation of Daniel's disease with us every day as we see MLD take away his body and his mind. It is a horrible, dark year in those moments. But in that darkness, we see his shining smile, his incredible love, and his soul's joy.

I want it all to be on our Christmas card because this is who our family is now. This is who we are.





 

Losing so much so quickly

The Facebook page has been doing such a great job of sharing Daniel's adventures that I've let the blog go I am sad to say. The recent Fox story on Daniel has brought his his joy to so many more. We have been sharing Daniel's adventures but I haven't done an update on Daniel's medical care in a few weeks. It seemed time.

The last time I wrote we were getting used to Daniel's feeding tube, but he was still eating a bit. Tonight brought home that eating is getting almost impossible for him. We were out to eat and Daniel, who still loves chips, genuinely choked for the first time. He had a hard time getting it up and again, for the first time, threw up because he was having such problems swallowing. Sadly, it's another food that he is unable to eat. I know chips were on the caution list but he loves them so much.....

Daniel entered hospice care last week with Gilchrist Kids. Doctors like to call it palliative care to ease parents fear of hospice and the brochure says it's for children with "life-limiting illness."  While we are far from accepting the future, we are not going to turn down a service that helps Daniel because of its connotations. Hospice has been to see Daniel several times already. He has a nurse on his team, a social worker, and a child life specialist. Everyone sadly works with many families in similar situations and they have a lot of good advice. They are acting as the coordinators for Daniel's many doctors in addition to making sure Daniel has all the meds and supplies he needs. The child life specialist even said that they are in contact with an organization that can make a personalized song for Daniel! They write lyrics about him and put it to any type of music he likes. We let her know that Daniel loves Call Me Maybe and Dynamite. I didn't realize until they pointed it out that Daniel has a preference for dance-pop.

Physically, Daniel has deteriorated even more rapidly than we expected even though we were warned. Daniel can barely sit up even when supported now. Everyday it seems we need to find a new way to assist Daniel to do things that were possible last week. He is having more problems with his fine motor control. Games and playing with toys is getting harder each day. It breaks my heart to see him struggle with things that used to be his strongest skills, like manipulating his tablet or playing with cars. A bright spot of the week was that we went to the park with his therapist rather than working with him at home. Daniel was way more willing to be physically active at the park.

This has all been heartbreaking but the worst has been how quickly Daniel has lost his speech. At diagnosis, Daniel could still clearly say about 40 to 60 words. He still has about 10 to 15 on a good day. Words that used to be clear are now slurred. When we tell him to say thank you or prompt him to say bye, it takes several seconds before he can process the request and speak - if he does at all. We are finding new ways to communicate with him. His speech therapist and an adaptive communication team with Frederick County schools is working with us on applications and ways to help him let us know what he wants. They will be delivering an iPad soon with apps picked out for him. We can upload pictures and create storyboards customized with his favorite things. We really hope that this is a tool we can use and change in the long-term to make it easier for him to engage with the world.

The summer is winding down and I feel like the clock is ticking to get done everything we want to do with him while he still have the physical skills to participate. Our schedule is so packed that I made plans for Daniel to go fishing with a friend for August 29th today - that's his first day free. Between doctors appointments, therapy visits, trips, and time with family and friends, Daniel is almost scheduled like a CEO or celebrity. Part of me is worried that we have so much planned. Most of me though is looking for some free time to take Daniel to Sesame Street and Diggerland USA before the good weather ends. The second week of October seems free...

Daniel's Adventures in Philadelphia

It's been a busy few days. Daniel is doing well, G-tube and all, and he has had a great time. There were a few worried calls to the doctor, but Daniel is fine. Tomorrow we head to the GI doctor for his check-up and Daniel has an occupational therapy evaluation later in the day. Now on to the fun stuff!



Daniel in the cockpit with his pilot's hat from Karl.

We were in Philadelphia that last few days visiting family and checking off some of Daniel's bucket list items: watching planes, playing on firetrucks (take 2), the Please Touch Museum, and the Philadelphia Zoo. A lot of amazing people made these trips possible and made them extra special for Daniel. I can assure you that Daniel ate up every minute of it. When we left the hotel this morning, Daniel frantically pointed to anywhere but the car as we were leaving. He did not want to go home! Every time we went back to the hotel, even when Daniel was exhausted, it was clear he wanted to go back out.

Karl with the FAA set up a special visit to the control tower at the Philadelphia Airport, a chance to ride with the Philadelphia Fire Department, and an extra special visit to the jet of Ed Snider, the owner of the Flyers. Ed is battling his own illness, cancer, but from news reports, he is doing well. Sadly, we didn't get pictures in the control tower, but Ashley and Kendra have some posted.





The jet



With Ed Snider's pilot who gave us the tour.
 

Everyone together.



Daniel riding in style with Ashley.





With Philadelphia's fire fighters.



On the runway.



Daniel decided he looked cooler in the fire department's gear :-)



Daniel's favorite place, behind the wheel.



In the fire truck with Daddy.

Us with Koca who gave a great tour!

Joe Costello, the Vice President of External Relations and Business Development at the Please Touch Museum, set up an extra special visit for Daniel after he was contacted by Fox News. Daniel had a great time and even had a personal tour guide, Koca. Daniel absolutely loved the bus, "shopping" in the grocery store, and his personal visit from a monkey puppet. He even left with a goody bag.



Daniel in the bus. He asked to come back at least five times.



There were lots of other things to ride too!



Daniel loved shopping.



The supermarket was a hit.





And his own visit from a monkey.

And the trip was still not done! We visited Grandma and Daniel picked cherries and strawberries for the first time. I have to admit that the cherries went over better.



Asleep on the way back.

Picking his first cherries.

Not thrilled about strawberries.



With Grandmom.



 

And last but not least, one of my best friends, Eileen Duffy, took us around the Philadelphia Zoo. She is a keeper there and not only had Daniel pet the snakes and other reptiles in the children's section, but she set up for Daniel to go behind the scenes for an alligator and crocodile feeding. Daniel loves crocs and alligators. He absolutely squealed in delight. I totally wish I had video but it was chaotic! Eileen has the photos of Daniel's reaction, which she already posted to Facebook. Daniel also took a draft horse ride, a pony ride, a train ride, and got to feed ducks! (Bucket list item checked!)

 

He loved the snakes and would make mommy pet them too.

No fear!



Eileen in a cool action shot.

On a draft horse.

Feeding the ducks.

Us with Eileen on the train.



Dan thought the train was super cool and looked up the cost :-) I wonder if there is going to be one outside soon! Ha. Actually no place to ride it here.

 

 

 

 

A wonderful ice hockey game and the aftermath of surgery

It's four days post G-tube and we're still trying to figure out this new normal. There are definitely pluses to the feeding tube. We don't have to worry if Daniel is hydrated anymore and giving him meds is...easier in a way. While Dan has this all down, I am continually forgetting to clamp or unclamp or messing something up.

The negatives....it was hard enough before the surgery trying to determine if Daniel was being fussy, in pain, had a fever, or was having a new symptom. Now with the recovery from the G-tube, there is whole new category of things to add. Is it pain from the surgery? Is there an infection? Does he have air in his stomach from the tube?

Earlier today, Dan rushed down from upstairs because Daniel was screaming up a storm. He thought it was muscle spasms. Daniel was actually having a fit because I wouldn't let him play with the house phone. It's not easy figuring out what is going on with a two-year old.

In other medical developments, Frederick County Infants and Toddlers program evaluated Daniel today for speech. He is around 24 months for all the cognitive and speech categories. Since he is 34 months right now, it's almost 10 months behind the average. While that's not good for a child developing without complications, for a child with MLD, it's great. We are starting weekly speech therapy to maintain as many skills we have and to begin building new forms of communication for when his speech deteriorates further.

I won't go into the details of the hellish weekend spent in the hospital recovering from surgery. What I want to share is how much the ice hockey game with the Frederick Freeze and Jr Freeze picked us up. To say that we were not in good place Sunday morning was an understatement. We couldn't move or hold Daniel without him crying with pain. There was also an incident with the Hopkins pharmacy to get discharge meds...there may or may not have been a breakdown and tears.

 At the game, he was enthralled.

 

Afterwards, he didn't want to leave the BBQ and was all giggles playing hockey. It was awesome to see him laugh again. Everyone was amazing. Thank you!

 

Preparing for surgery

We went to the GI specialist on Tuesday. To say I was reluctant to face Daniel getting a feeding tube...well that is an understatement. I practically started crying on the way into the hospital and thought, "I can always turn around..." The night before I didn't even set an alarm clock. I figured that if my husband hadn't, then we were just not meant to go.

Sneak peak of family photos. Photo by Lindsey Welch.

Despite my reservations, we got to the appointment on time. My apprehension that the appointment was going to be a disaster turned out to be unfounded. Not only did we not need to explain our case to the doctor, but our neurologist Dr. Crawford had already been in touch with him. Based on that conversation, we were tentatively scheduled for surgery three days later.

I was very reluctant to get a feeding tube. I feared it would accelerate his progression. I thought it would make him stop eating sooner. I thought it would be uncomfortable for Daniel. I thought....I thought that I wouldn't be able to handle such a physical manifestation of his disease. However, when faced with imminent surgery, our questions focused on whether he could go to a water park on his Make a Wish trip in mid-June (No), whether he could go to pools at Disney the week after (Yes), and would he be discharged for the ice hockey game on Sunday (Yes assuming no problems).

Why my about-face? Because when a surgeon already has you on the calendar, you probably need the procedure. Second, I think my reluctance on getting a feeding tube was more about my expectations about Daniel rather than what was best for him. The doctor assured us that the trips we had planned for Daniel would be better with the tube. He wouldn't get dehydrated in the hot Florida sun. At meals, he could just eat what he wanted. I wouldn't have to follow him around with food all day worrying about his caloric intake.

So Daniel is getting a feeding tube tomorrow. I am worried about surgery. I am worried about how he will feel about the tube. I am worried he will be uncomfortable when he sleeps. But I won't have to worry about whether he will need an IV drip for fluids. Something small to be thankful for and there is much that can still go wrong, but this is the path we have chosen.

Daniel entranced with the snake at the National Aquarium.

Now that you all have read the sad things about this week, here is something to cheer you up. After our appointment on yesterday, we went to the National Aquarium with tickets that were gifts from some friends. Bucket list item complete! Daniel loved it! Oddly, his highlights were the waterfall and the snake. He also loved the sharks. What boy doesn't?

Daniel staring at the waterfall.

Daniel staring at sharks.

 

I am also bringing you a sneak peak of the family photos we had done a few weeks ago by Lindsey Welch. The photos are amazing! Daniel looks so grown up. She working on them and more will be available soon.

 

Memorial Day Weekend

Bouncy delight with Baylee

It's been a super busy Memorial Day weekend. Today was the first day where we had some rest - and rest was having friends over for a BBQ. Daniel enjoyed his time playing with Baylee. Andy and Megan, part of our family, lent us this bouncy house. It has taken over the dining room and Daniel loves rolling around in it.

Wheaton Regional Park

We spent little of the rest of the weekend in the house. Daniel bounced back on Saturday from his reaction to Neurontin. Kaylea, Daniel's older sister, was with us this weekend and we made the most of it. We went to Wheaton Regional Park, where Daniel loved riding on the train and carousal, with a friend and his son.

On the way back to Frederick while Daniel napped, I checked out new strollers at Great Beginnings. Daniel is struggling to sit up and his current stroller, a Baby Jogger City Mini, is not working well. I found a stroller that positions him better but it will win no awards for design. His adaptive stroller is on order and won't be here for at least a month.

The rest of the day was a whirlwind. We had a lovely day at Earl and Pam's farm where they worked had to make the perfect day for Daniel. Nino helped set up the day and Daniel was able to knock several items off his bucket list: riding an ATV, fishing, and go-karts. His reaction to the fish was priceless. He was so amazing when it came up out of the water. Dan then chased him with his and Daniel screamed with laughter as he "ran away" in my arms. After the farm, it was off to Medieval Times. Daniel loved the first hour and then, not enthralled by the storyline, insisted on hanging out in the gift shop/bar/waiting area.

Earl's son Tim worked for day to get the go-kart in working order.

Paddleboat ride at the farm.



Daniel running from the fish.

Baylee granting Daniel a kiss after she received the favor from the yellow knight.

Sunday was a little more low-key. We waved flags to welcome the motorcycles riding to DC for Rolling Thunder. Yet another bucket list item completed! Daniel was all decked out in his gear. Then we stopped by the Urbana Farmer's Market where the highlight for Daniel was playing in the fountain. Then Daniel got to hang-out at the Irish Festival with some friends from his former daycare. Daniel was excited to seem them!

Sunday night, I had to accept that Daniel can no longer use his toddler chair to sit at the dining table. We were having family over for dinner and Daniel - who normally insists on eating on the couch - used his chair. He turned quickly, fell over, and hit his head. His trunk control is decreasing dramatically. The decision to not use his chair anymore hit me hard. I was super excited when we received the chair as a gift. It would grow with him! Encourage better manners because it had no tray....now I needed to accept that this chair no longer works for Daniel.


This weekend Daniel also began aspirating liquids more. I upped his Simply Thick from "nectar" to "honey" consistency and that seems to be working better. Last night, I began to worry that we were planning on doing the feeding tube too soon. I read about the complications and problems with caring for the tube. I don't worry to put Daniel through that sooner than he needs to. The other parents on the MLD listerv assured me that doing it sooner was better. Those that waited, mostly regretted it, still, I want Daniel to eat as long as possible. Tonight, we tried out some new smoothies. He loved using the blender! One of his favorite Kindle games is a
smoothie app and I think the real world experience was cooler for him.

Daniel is pushing himself hard. It's like he totally understands what is going on and why he is doing so much. He has been resisting sleep and resisting naps more than ever before. Last night, I put him on the bed for five minutes while I prepped his bath. This is what I came back to.

 

Fun aquatherapy and a bad reaction to Neurontin...we hope

Aquatherapy

Yesterday was a good day. Daniel had a great time at aquatherapy. He insisted that mommy get in the water too. Off I went to buy a suit. Luckily, we were in the mall so I was back and changed in ten minutes.

Daniel loves to kick in the water and he really enjoyed playing chase with Jennilee. He came home exhausted and he slept for several hours!




With Jennilee fom MMI

Last night was not so great. Daniel had his second dose of Neurontin before he went to bed. At 3AM, he woke up crying and never went back to sleep. He cried throughout the night. This morning we went to get pancakes from McDonald's, his favorite. He said he wanted those rather than Mommy's. Just like Dad.

When I took him out to the car, he had a hard time holding onto me. He was limp and difficult to hold. In the car seat, he couldn't sit up and I noticed a rash on his cheek. He sat slumped forward the whole ride. His eyes wouldn't focus and his speech was slurred. He refused to eat pancakes and had a hard time grasping things.

Things didn't improve. We came home. Dan saw Daniel and was equally alarmed. We called the nurse practitioner. No response. Several hours went by and we panicked. Dan saw what he thought was a seizure. The RN texted back that she was at a memorial service and could call us tomorrow. She said to get in touch with the physician's assistant. We did. No response. Finally, we tracked down the business card with the neurologist's cell. She answered. She said that it may be the Neurontin and that it may be rapid progression. We are to stop the Neurontin for a week and then try again with a smaller dose.

Needless to say. we are worried. We knew Daniel would get to this point but we didn't expect it so soon. Fingers crossed, he gets better as the Neurontin passes out of his system.

600 pm update. Daniel is doing much better. He can sit up again and is alert. Fingers crossed he stays that way. We have also decided to go to the leukodystrophy clinic at Kennedy Krieger rather than remaining at the Children's Hospital of Pittsburgh.