Thursday, May 29, 2014

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.

Monday, May 26, 2014

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 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.


Friday, May 23, 2014

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

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.

Wednesday, May 21, 2014

Daniel's first official bucket list item....playing on a firetruck

A lot has happened in the last few days. I will begin with the good stuff. Daniel did his first official bucket list item on Tuesday! He played with fire trucks in Lucketts, Virginia at the Fire and Rescue, Station 10. 

He was somewhat overwhelmed at first, but he quickly warmed up when he got the opportunity to sit in the driver's seat of a rescue vehicle. The ambulance was turned off, of course. Everyone at the station was amazing. We had a hard time convincing Daniel to get out of the ambulance. They offered that he can come back anytime. We probably will be taking them up on that!

Over the weekend, we got the tickets to the Day Out with Thomas at the Strasbourg Railroad. We got the add-on package that includes a hat (that Daniel loves), a whistle, and a lanyard. We had fun this morning playing with his new toys.

We had lunch with a friend from the Frederick Police Department. I won't name him since I didn't clear it with him, but he gave us a very generous gift from him for Daniel. So generous that I think Dan is going to be finding ways to sneak money back to him. The support from our friends and community has been absolutely amazing.

Later in the day, we had PT with Trudy, his therapist from the Infants and Toddlers program. She is great with Daniel. We managed to get Daniel into his AFO's, which he needs to prevent tight heel cords and contractures in his legs. Daniel has been losing words and his speech is getting more slurred. She said to create a book of Daniel's favorite things and use that for him to communicate. Amazing! Daniel will love being able to better tell us what he needs. Right now, he just tries to point in the general direction when he gets frustrated. After PT and some more playing, Daniel nodded off to two of his favorite books, Hug and Goodnight, Gorilla. Daniel in the evening played with GMom, Uncle Craig, and Aunt Kendra. After that, Dan, Daniel, and I snuggled up in bed and watched Ratatouille. Daniel feel asleep peacefully.

On to the not-son-fun stuff. We had our first panicked trip to urgent care this afternoon. Daniel has been getting randomly hot. Since fever and infection can accelerate MLD, we frequently check his temperature, but it has been normal. This afternoon he woke from his nap screaming, saying "Mommy, help me." He wouldn't stop crying. We checked his temperature, normal, but he started tugging on his ear. We called our pediatrician. They could see us in two hours. That wasn't fast enough for me. We headed to urgent care.

This was our first appointment with a pediatrician where we had to explain Daniel's care. She was actually great, seemed familiar with MLD, and even asked knowledgeable questions about how he was diagnosed. She assured us that everything seemed normal. We think that Daniel may be getting nerve pain and that probably caused his after-nap crying. He started on his Neurontin, which will help nerve pain and seizures, tonight so hopefully that will help. Since Dan noticed what he thought was a seizure this weekend, we have been eager to start the Neurontin but he needed to be on his full dose of Baclofen first. We have our initial meeting with a pediatrician who will be handling Daniel locally tomorrow so he is going to get checked out again.


Monday, May 19, 2014

BD to AD: A Life Changing Diagnosis

As I wrote before, we believed that Daniel had Charcot-Marie-Tooth (CMT) disease. CMT is by no means a pleasant or easy journey. Right now, I would give anything, including my life, for Daniel to have CMT.

On April 28, I saw that Daniel was struggling to sit upright on the floor. This was very alarming because CMT affects the hands and the feet. There was no reason for Daniel to be struggling to use his core muscles. I took video and thought about calling the Johns Hopkins emergency line. My husband, Dan, was coming back from a trip to Florida. During his layover, we spoke. He, who has never thought it was CMT, urged me to call Hopkins.

I called the number for the neurologist on call. She returned the call in about 20 minutes and, rather over her head because Daniel's type of early-onset CMT is not common, she had our regular neurologist, Dr. Crawford, call. He urged an appointment the next day.

We came into the office with Daniel and Dr. Crawford performed his exam. He said he saw signs that were concerned and implied that Daniel's disease involved the central nervous system. CMT is soley a peripheral nerve disease. His legs were rigid at times. He had some neurological sign where his big toe came up. He in general, did not present like he did before. This is the first time that we heard the word leukodystrophy from a doctor. I, because I am a crazy researcher, had read about these diseases before. I had dismissed them. Daniel didn't have seizures. He had no sight or vision problems. His speech, while not improving, had been about right for his age.

Dr. Crawford ordered bloodwork and an MRI. When we went to schedule the MRI, they said that they would call in 4 to 5 weeks. That seemed an eternity. On the way out, the Musclar Dystrophy Clinic coordinator Theresa, who has been wonderful, told us that she would do everything to get us in as soon as possible.

We had an MRI four days later. It's never good when doctors move mountains for you.

Waiting for the MRI was rough. Dan, I think, was just waiting for the bad news to fall. He had always said that Daniel's disease was progressing too fast for it to be CMT. I alternated on what I thought. I would suddenly be sure we would get bad news. Then, after doing some research, I would convince myself that it was not any leukodystrophy. They did not fit. I would cry and then feel better.

We went to the MRI on Friday. The doctor's put Daniel under. It was terrible seeing Daniel on the large, hospital bed. We went to the large waiting room. It was late in the day and there was only one other couple in there. We waited.

Before the MRI, I told Dan that I thought Dr. Crawford would be there. I had in mind a picture of House looking at the images as the brain was scanned. I didn't admit to Dan that I was thinking of a TV show but I insisted that he would be there. Dan scoffed at the idea and said that if the doctor was there, he would be very worried.

Dr. Crawford came out to give us the news. Daniel had white matter in his brain. At first, I was calm. I asked if he could tell the type. He said no. I asked if it was ADL, which had a distinct pattern, and was my hope since there were some treatments. He said it wasn't ADL. At this point, I lost it. Dan began to cry. We both sat on the couches and felt our world end.

I hope you never have to see how the world reacts when you just found out your child is going to die. The other couple in the waiting room, almost 50 feet away, retreated to give us privacy. The cleaning lady offered us tissues and water. When we pulled ourself together and went back to get Daniel who was waking up from anesthesia, the medical staff waiting for us had tears in their eyes. The medical bay with over 20 beds was completely empty. It was late but no one hurried us. We were offered more water. It turns out you get really thirsty when you are sobbing. I think offering water is part of the training for medical staff.

Daniel when we went back was crying for mommy. A nurse was trying to unsuccessfully calm him. We had a big family hug, all of us, crying.