When Jake and I started this fundraiser 4 years ago, we were brand new to the world of mitochondrial disease.  We sat in a room with Dr. Koenig a week before Hudson’s third birthday,and were told he has a life limiting disease that has no cure, and no treatment.  She couldn’t give us a prognosis for him, because the disease course is so uncertain and highly individualized.  For a solid year all I thought about was that life changing day, that life changing moment.  Imagine hearing those words about your child.  I certainly never thought I would.  It still feels surreal when I think back to that day.  Having a child with this disease is emotionally and physically exhausting, and it will drown you if you let it.  Every time Hudson got sick, I wondered if this was it, would this be the time he didn’t come back to us?  I knew that I had to create something to raise awareness of this disease no one knew about.  The only hope for a cure is through awareness.

Back then Hudson was very sick.  He had undergone 4 surgeries by the time he was 2, was almost completely tube fed, had a failing heart, and was so unattached to the world around him.  He made no eye contact with anyone, had no way of communicating, and wouldn’t notice if you left the room.  He was locked away in a sick little body.

I believe God brings people into your life when you need them most, and I believe he brought us to Dr. Koenig and the UT Mitochondrial Center of Excellence.  We spent 3 years searching frantically for a name to what Hudson battled, and Dr. K was able to give us that name.  She has cared for him the past 4 years with skill, patience, and love.  He has thrived under her care.  He is honestly a different child than the one we brought to her all those years ago.  Dr. K coordinates his team of specialists and makes sure the implications of their treatments on his mitochondrial disease are always considered.  She worked with his cardiology team to ensure his open heart surgery was successful.  She was responsible for getting Hudson enrolled in the EPI-743 drug trial, a drug that has dramatically changed his life.  He can now communicate using some words and several signs.  His immune system has stabilized and we don’t live our life rushing off to the hospital at all hours anymore.  His neurological status is greatly improved, he can focus on tasks and doesn’t stim endlessly all day anymore.  Last year Hudson and I spent 2 months inpatient at the Kennedy Krieger Institute in Baltimore, where he was enrolled in a feeding program.  He is now able to eat some purees in addition to his formula and tube feedings.  Perhaps the most exciting development is that Hudson was well enough to finally start school!  I was pretty resistant to the idea due to the germ factor, but Dr. K was adamant that we try.  I am so glad we did, because Hudson absolutely loves school and the social interaction has been wonderful for him.

Jake and I learned after that first year post diagnosis that we couldn’t live in fear of the unknown anymore.  It’s paralyzing.  What we could choose though, was to make a difference.  In the past 3 years our town of Brenham has donated almost $90,000 to fund mitochondrial disease research and help the UT Mitochondrial Center of Excellence grow.  This clinic and Dr. K are very special, they are the only ones of their kind in Texas, and one of the very few to be found in the US at all.  We are so lucky to have them in our backyard.  What I am even more proud of is the amount of people we have brought awareness to, and how many people come out to support Hudson every year.  We hope to see you there again this year, and thank you always for your support, whether it be volunteering your time, services, donating items, or a monetary donation.  We love all of you, thank you.

Medical Update and...SCHOOL!

Hudson has been seeing all of his doctors for follow ups since we've been back. He had an MRI of his left hip to check for arthritis in an effort to determine if that is what's causing his limp. No results on that yet. Today we saw his pulmonologist, and she isn't happy with his current sleep study results. The sleep study showed central and obstructive apnea, as well as high CO2 levels. She ordered an xray to check his adenoids, and if that's the problem, a simple surgery will fix it. If they're not the issue, she'd like to try Cpap on him. At this point I'm hoping for the surgery because I cannot imagine my sensory kid wearing a Cpap mask! We should know the xray results soon. She also suggested that switching to a J-tube instead of Hudson's G-tube may help with his stomach problems caused by the addition of purees. If we do this, we can still feed him purees, but his formula feeds will go via the J-tube directly into his intestines, bypassing his stomach altogether. This is something we'll discuss with his GI next Monday. She also wants him to see the developmental doctor at CMHH who specializes in autism. Hudson does have autism, but it is a symptom of mitochondrial disease for him. I don't think it would hurt to get a consult from her. 

Wednesday Hudson sees his cardiologist, where he'll get the always nerve wracking echocardiogram done so we can check on the condition of his heart. We never know what to expect going into an echo because it seems that there's always a surprise. Later that day we also have an appointment with a new cardiologist, one who specializes in autonomic dysfunction. His mito doctor is hopeful that this doctor will be able to offer a solution for Hudson's abdominal migraines, as well as his overall autonomic dysfunction in general.

 The really big news is that tomorrow Hudson is going to go to school! It will definitely be an emotional day. I know he will love it though. For the past two years Hudson hasn't medically been well enough to go to school, so he has received therapy and school services from the district on a homebound basis. This summer his mito doctor cleared him to attend school on the campus. He will be in the PPCD class, basically a Pre-K class for developmentally delayed children. The class is M-F, from 8 - 11. His therapists will hold their therapy sessions with him while he is at school. I am very nervous, but I do know that he's in great hands there. Medically, we will try to make sure he doesn't get sick often, and if he does, we'll have to discuss the risks vs. the benefits with his mito doctor. My little Huddy going to school! It will be a tearful, but happy morning tomorrow.

Back Home

I guess I was pretty bad about keeping the blog updated during Hudson's KKI stay. After the last post, things went downhill pretty fast, and a couple of weeks were spent just trying to get him back to the baseline he was at before the issues started. We left KKI a week early, because the team thought that Hudson had maxed out the progress he'd be able to make there developmentally. Upon discharge, Hudson was eating 15-20 oz. of purees daily, and we were able to cut his tube feeds by about 24%. We were not successful in transitioning him from the bottle to a cup. The question everyone has asked me is was it successful, was it worth the trip? The answer to that is really so complex that I can't just say yes or no. The reason that Jake and I thought we had to try KKI for Hudson was simple. He didn't eat, and no one could tell us why he didn't. From a quality of life standpoint, we felt we had to find out if, given the proper training and tools, Hudson would eat and maybe even love it in the process! So KKI was beneficial in the sense that we got an answer. Hudson hates eating. He will technically swallow purees, but he shows no sign of actually liking it, in fact most times he tries to get out of doing it. He points to his feeding pump to be hooked up to his tube feed. More importantly, food is wrecking havoc on his little stomach. This was my greatest fear when we started this process, would his body even be able to tolerate food? The reason Hudson is on a specialized medical formula, Elecare, is because as a baby his body was not able to break down and digest regular formula. KKI sent us home on a regimen of twice daily doses of Miralax, as well as enemas for him every few days. I find this a totally unacceptable solution. His reflux is terrible, his belly is very distended, and it is obvious his body is not processing the food well. We saw his mito doctor this week and she agrees we need to find a better solution for him quickly, but she wants us to consult GI before making any decisions. We see GI in a couple of weeks. I don't know what the end result will be, but I do know that we need to make Hudson more comfortable. This is not what Jake and I had in mind when we pictured a better quality of life for him. I do want to say that I feel that the feeding, speech, and occupational therapists at KKI are amazing. They got Hudson to do things that I never thought he would. I really do think it's a great program, and many children there made excellent progress. I think Hudson's underlying medical issues are the reason we didn't get as far, but that isn't anything the team could have helped. We also got the results of our Transgenomic testing back. They tested Hudson, Jake, and me, and we've been waiting for the results for almost a year. This test was searching for the genetic mutation that caused Hudson to have mitochondrial disease. It turned up many variants of unknown significance on Hudson, but nothing specifically disease causing. So this week we drew labs for another test called Exome testing. This test is much newer and can look for many more mutations than Transgenomic could. The results will not be back in time to give us any direction about testing for the newest baby Schaper, but I am hopeful that it will find the genetic cause of Hudson's mito. That is knowledge that would be very valuable to us. The next few weeks will be busy! Hudson has follow ups with all of his doctors, as well as an MRI, 24 hr. VEEG, echo, and an EMG scheduled.

KKI-Day 21

I am so excited to write this post! Hudson has done absolutely fantastic this week. At the steering committee meeting last Thursday, I was told that the team feels, after having worked with Hudson for 2 weeks, that he can be 25-50% weaned from tube and bottle feedings by the time we leave. Our discharge date was set for October 18. One of the big goals the team has for Hudson is to get him off that bottle, so they are focusing very heavily on cup drinking. If he learns to even drink his Elecare formula from the cup, they will consider that as counting towards the weaning goal, because it won't be intake by tube or bottle. So far he will let them put the cup up to his mouth, but isn't taking anything from it yet. Cup drinking is worked on in speech and occupational therapy. In feeding sessions, something finally clicked for him over the weekend. He closed his mouth and swallowed, at first taking several minutes to swallow but over the past couple of days he is swallowing much faster. This program is ABA based, so it relies heavily on a reward system for acceptable and desired behaviors. For Hudson, the reward is getting to watch a Mickey mouse DVD. If he doesn't swallow within 15 seconds, the DVD goes off. As soon as he does swallow, it goes back on. It sounds so simple, but it's something we have never been able to make him do. I truly believe the total immersion and excellent therapists of this program are the difference. So as much as I despise the inpatient stay, I think the value of the feeding program and therapies is immeasurable. He is on puree consistency, and the feeding team is placing the bite towards the back of his tongue, applying downwards pressure to elicit a swallow, with a Nuk brush. He isn't able to handle a spoon yet, the therapists said he doesn't have the proper tongue movements to move the food back yet, but they'll continue working on it. So far variety of food has not proved to be an issue, he doesn't seem to enjoy the food but also doesn't seem to dislike it. A new food is introduced every fourth session. So far he's eaten peaches, pears, green beans, applesauce, a blended up chicken nugget, mashed potatoes, and blended chicken and rice. All the food is blended to a smooth puree consistency. He is up to 2 oz per session, and they will up his intake a half ounce per every fourth session as long as he continues to do well. Today I was told that he is up to about 130 calories intake in feeding sessions, so we were able to cut his overnight feed down by one hour. On Friday he will have a texture assessment done to see if he can handle junior textures, like regular applesauce. He is doing awesome! After the misery of the first few weeks here, I can now honestly say that I see why this is the number one feeding program in the country. It's working!

KKI - Day 12

Sorry for the lack of updates. This is much harder than I ever imagined it would be, and I just haven't felt up to writing. We are very homesick, Hudson spends every evening watching videos of the kids, Jake, and Jakes's parents. But we're hanging in there. Thursday will be 2 weeks that we've been here, and it's also the day of our big steering committee meeting. During this meeting, all the therapists, doctors, social workers, everyone associated with Hudson's case will meet with me to discuss his progress so far as well as an anticipated discharge date. His progress to date has been very minimal, which makes this process so much harder I think. During his last feeding session today, the doctor assigned to his case sat in the observation room with me and discussed what he's seeing. He said Hudson is an extremely "tricky" case. They have succeeded in reducing some of his adverse behaviors to the therapists trying to feed him, behaviors such as hitting, kicking, or refusals. When the therapists are able to get puree into his mouth though, Hudson just sits there with his mouth open and doesn't swallow. He sat for 30 minutes today refusing to swallow one bite! This is the same type of behavior we see at home with him. It's difficult to stay hopeful that this whole situation will be worth it in the end, but I'm trying to stay positive about it.

KKI - Day 4

The past few days have been busy, but also feel like they've moved so slowly. Hudson's behavior has taken a dramatic turn for the worse, probably due to anxiety, stress of the new environment and people, boredom, and lack of sleep. His tantrums, hitting, kicking, and autistic behaviors are terrible, much worse than I've seen them in a very long time. After the few days of baseline testing, feeding sessions progressed to a toy preference assessment. The therapists presented him with a variety of toys, in a very methodical fashion, in order to determine what objects might work best as positive feeding reinforcements. After that was determined, the sessions have moved on to lessening bite refusal. The therapist presents an empty spoon to him, if he resists it, the spoon is taken away immediately for ten seconds, and then presented again. If he doesn't resist, he gets verbal praise and gets to play with a toy. This is repeated 30 times. So far, for the past two days, Hudson hasn't gotten to play with any toys. Tomorrow something different will be happening, but I'm not sure what yet. He also had one MRSA culture come back negative, and we're waiting on the second culture now. His stomach is a mess, rock hard and bloated, and his motility is at a standstill. He's been very retchy and gaggy, so the team added milk of magnesia back into his daily meds. He hasn't been on that since before the Cdiff nightmare of last year. We've met some of the other feeding families, and yesterday went to Port Discovery with them on our Therapeutic Leave of Absence (TLOA) hours. It's basically a giant hands on childrens museum type place, very cool. Hudson tried to climb into the water table. We actually get more TLOA hours than I initially thought, we get 4 hours twice a week. Most people take them on the weekends. Today we ventured out by ourselves to Whole Foods. After driving through a scary part of town, we arrived in Fells Point, where Whole Foods is. I was pretty proud of myself for navigating us there, only getting lost once! The change in scenery was essential for Hudson and I, as tomorrow marks the start of our first full week here. Wish us luck!

KKI - Day 1

A long long day. I feel like we've already been here a week. Stepping off of the elevators onto the floor, I have to admit I was greeted by an overwhelming sense of dread. It's just such a long time to be here away from our family. All complaining aside though, I DO feel like these people can help Hudson, which is what counts. Today consisted of a lot of intake meetings. Each day I am given a schedule with Hudson's activities on it. He will have feeding sessions three times a day, with therapy and playgroups scheduled in between. Tonight was his first feeding session, which involved Hudson and I sitting in a small treatment room, being observed by his team through a two way mirror. Uncomfortable, yes. They were observing his behaviors as they are at home, it was baseline testing. He'll have two more sessions of baseline, one session where they observe what reinforcements work best for him, and then Saturday morning the actual feeding program begins. The nurses, doctors, and therapists have all been great. They made an excellent effort to get up to speed on the nuances of mitochondrial disease before we got here, so I feel great about his care here. Since he did test positive for MRSA, we were placed in a private room, but as soon as he has two negative cultures we're kicked out into a shared room. I'm enjoying it while it lasts! He is allowed to leave his room, so not super strict isolation, but has to wear a gown and can't go into the playroom if others are in there. Thankfully they cleared one of the playrooms out today and provided him with a one on one attendant, so he could play while I went to meetings. His attendant noted three instances of reflux with formula coming up to his mouth, which everyone seemed unhappy about. I'm really hoping reflux doesn't delay his treatment here. That's about it for day one. I've been asked by several people for our address here, it is: Kennedy Krieger Institute Attn: 3rd Floor Nursing Hudson Schaper 707 N. Broadway Baltimore, MD 21205