The Ugly Side of MPS

Today. It's 8:21 am as I'm writing this and I'm tired.
I've been up since 3:15. I woke up without a voice. I took some medicine and started packing the kid's bags. Made some coffee. Laying their clothes out. Matt gets Wesley dressed. Packing some toys. Getting myself dressed. Still trying to fix my voice. Brushing my teeth. Trying to remember snacks for Wesley's sister Ava. Thinking about grabbing a sippy cup for her; ultimately forgetting to grab one. Making sure Wesley's medication and bandages are all on their way to infusion with us.
Searching for toddler shoes. Matthew and I putting the kids in the car. Running back for back packs. And my coffee. And an iPad. And blankets for the kids because it was cold at 4 am. Getting gas and we are on our way. Where on earth could someone be going at 4 am?

Every Friday and maybe the occasional Thursday. Infusion day. Most days the mornings run smoother than this. Maybe when I have more sleep, maybe when I'm not sick. But generally it's the same. Wesley has had two medicines added to his routine since last infusion.

His nighttime medicine tastes absolutely disgusting and has ruined him from taking any medicine easily. He used to do so well, but this has put his medical trauma through the roof. Wesley has had reactions his last four infusions. This is a big deal. Because it means Wesley's body is rejecting the medicine that will help him. I now have to administer his first dose of pre-infusion medicine sometime around 5am...

Normally he actually gets it around 5:30. In the car, at our midway point of the nearly 4 hour drive to Children's Hospital. This morning I was mixing meds in a styrofoam cup in my car underneath the dome light as the sun had not even begun to rise. I put it in the syringe and chase him around the car, cornering him into the front seat. Once he knows he has no choice, he normally takes it and swallows quickly. Not this time. He opened his mouth like all was well and as I pulled the syringe away he decided to spit it all over himself, me, and the car. I lost it. I yelled at him. I was so angry. I couldn't take this. Why? How could he do this?? Why did he do this? We are already running late. He knows he has no choice but to take it. Now I have to make more and try again. All these thoughts as I threw the syringe onto the ground to rummage through my back pack with one hand that is on the other side of the car praying he doesn't decide to sprint and run across the parking lot.

As I'm trying to make more medicine the capsule isn't coming open so I try my bandage scissors. I end up completely cutting it in half as the powder sprinkles everything white. So I try again. Finally something doesn't end in disaster and I'm stirring and trying again with one of my back up syringes.

My mom ends up having to hold his arms and legs while he is half propped in her lap as he has transformed himself into an octopus. Squirt it in the back of his cheek and cover his mouth hoping he decides to swallow. One down, one more to go. And this is a new medicine. To try and keep him from reacting. From a medicine that will help his body, but all he knows is this medicine is new and so he fights it worse. This is just one part of medical trauma. All of this is going on while I'm crying because I am at my limit. Yesterday was the same. The day before that, was worse. It's been a hard week. I felt bad for getting angry because I realized he is just as done as I am. He's had a rough transition coming back from vacation and I don't blame him.  This shit sucks. 

We came home from vacation and Wesley had a pain management appointment. He now has disgusting medicine he has to take every night so maybe he can stop hurting enough to sleep. Thankfully it helps him. The downside, it is one of the nastiest medicines I have ever tasted (yes, I taste all of his medicine so I can be prepared for his reaction). He hates it. He hates taking it. He hides when I start getting it ready. It goes a lot like what happened this morning. He tries to spit it out. We have to hold him down. It is not something I look forward too. 

That same week, the day after he got that horrible medicine. He had an echo-cardiogram because his chest pain had been increasing more and more. They said no change. Exactly a week after, on our way to infusion I had to stop the car twice and get him out of his carseat to comfort him because his chest was hurting him so badly. I called and asked them to consider a heart monitor and they did. He now has to wear one for 30 days. He is allergic to the glue that holds the patches so it's always raw underneath even though we change them once a day to try and avoid his skin from breaking down, which we have done for one week. 

Bringing us back to today. 

As I was getting him into his car seat he was still crying. I was still crying. I wanted to turn around and go home. I held him and apologized for yelling because I was wrong. I apologized because not only was I guilty of over reacting and getting angry but I felt guilty for him having MPS in the first place. I told him I was sorry he has to do this. That I was sorry that his life turned out this way because this is not what I had planned. That this was not anything like I wanted and it wasn't fair to him because he deserves a better life than this. And that's true. He's tired. He dreads hospital trips. And infusion. And night time medicine because it tastes disgusting. He hates his heart monitor. He is angry. And I hate all of that for him. He doesn't want to do any of it and that's understandable. That's why it's so hard for him to come back from vacation because that's the life he wants. He wants to be free. He wants to be a kid. 

This has been a hard few days. For all of us. Today I didn't win Mom of the year. Today, this is what rare disease looks like. This is what MPS looks like for us some of the time. Other times it looks like sleepy smiles and playing peek-a-boo with my 5 year old over and over and over. But that wasn't today. Today it was ugly. And the ugly days are the hardest. Where I feel the most guilt and want to scream how I hate MPS and all that it is stealing from my son from the top of my lungs. 

Please pray for us today. Please pray for peace and comfort and rest for Wesley and our family. Pray for a good infusion and that his new additional pre-infusion medicine works. Pray we have a safe trip home. Pray the doctors see what they need to see on Wesley's heart monitor to figure out what is causing him pain. 

Thank you. 

A Year Today

Hello.
I know its been awhile since I have written. I've had to focus on living and self care, as for awhile I felt like I might drown. Today is June 12, 2016.

It has been an entire year since Wesley's port surgery, which was June 11, 2015.  After the procedure, he had an episode of SVT (supraventricular tachycardia) while coming out of anesthesia. This caused a delay as they monitored his heart, so on June 12th, Wesley received his first dose of the genetically manufactured enzyme, Elaprase, that would be administered through his port once a week from then on.

One whole year. It truly is amazing how fast a year can feel. We stay so busy with Wesley's therapy and infusion schedule, and the long drives involved, especially to the Children's Hospital, that one week fluidly runs into the next without a break it seems. Some days, I feel like I wake up and it's 2:50am on Friday again as my alarm is blaring away. Telling me it's time again to wake up and get things started for our longest day of the week.


Our recent news starts like this:
Wesley just saw the cardiologist for his annual check up. We were told that he needs heart surgery. My sweet 5 year old boy needs his mitral valve replaced as it has severe back flow. Meaning his blood leaks back into his heart through his mitral valve because it is no longer working correctly. The doctor said Wesley qualifies for a valve replacement right now, but because the back flow doesn't seem to be causing stress on his heart he would like to wait until Wesley grows a little more so he can place a bigger valve. He wants to avoid doing this surgery more than once.

We now have to see the cardiologist every 6 months, with very strict instructions to make an appointment sooner if he appears more tired, has rapid breathing or seems like he can not catch his breath, or has a harder time sleeping.

If any of those things occur we are to call for an immediate appointment to have an echocardiogram to check the mitral valve. This news hit me hard. It was the Thursday before Mothers Day when we found this out. I couldn't breathe.

This happened to be the only trip to the hospital that I have made by myself for infusion. I cried the majority of the way home. It's a disheartening feeling knowing that your child needs yet another surgery. I won't lie and tell you that I didn't have expectations.

Last year, the doctor said Wesley's heart was great. Even told the medical student to listen to Wesley's heart because that is 'what a normal heart sounds like'. His mitral and aortic valves had small leaks but some people can live their entire lives without any trouble. I was thinking it's only been a year. He will tell us that Wesley's heart looks great and we won't have to been seen again for another 12 months. I was so so wrong and it completely shattered my heart.


Mother's Day was May 8th. That same day, a Friday in 2015, we were told that Wesley had Hunter Syndrome. I was dreading it. After the heart surgery news and feeling like it was a sick joke that the year after we got the most terrible news of our life that day also happened to be Mothers Day.

How cruel of life to make Mothers Day the day that would be the one year anniversary of discovering that the person who made me a mother was going to die before me. I wanted to hide that day. I didn't want to be wished a Happy Mother's Day. I wanted the whole day to disappear. While talking with my Mom that very morning she encouraged me that it was the day, NOT the date that mattered. I should be celebrating because I get to be Wesley's mom and I thankfully ended up having the best Mother's Day I have ever had. How I needed that great day with my family. I was thankful to feel their love and appreciation on that day because it would gave me strength for the days to come.


May 10th of this year sucked. It was a Tuesday. About 5 weeks earlier I went for my blood test to see if I was a carrier for MPSII. To see if Wesley's disease came from me or if it was a spontaneous mutation.

I am a carrier. I now know why they waited until after Mother's Day, because for me, it means I can not have any more children. I am 23 years old and my child bearing years are over. My dream of having 5 kids became just that. Only a dream.

Because I am a carrier of Wesley's disease, he had a 50/50 chance of getting Hunter Syndrome. Ava had a 50/50 chance of being a carrier and I asked the genetic counselor to get the paper work ready so she could be tested while we were on the phone. I just instantly started crying. I instantly felt guilty and ashamed. Wesley got his disease FROM me. I am the cause.

I struggled with this for many, many days. Crying on and off through out the day as I was processing. I felt broken. As I was telling our favorite nurse at infusion I started crying and telling her how guilty I felt. She grabbed my face and told me that I should not feel guilty or broken because no one knew. That I did not choose this for Wesley and that I was a great mom. That I had no control over what happened as I myself could not pick my own DNA. Those are the words I say to myself when I am struggling. I didn't choose this. I would have not chosen this life for Wesley and that I do my best to make it as enjoyable as possible for him.


The following Wednesday, May 18th.  Wesley woke up refusing to walk, in pain, and extremely stiff. It was storming outside so I didn't put much thought into it as he is always considerably more stiff when its raining or when a storm is headed our way. It got worse through out the day and into night.  I wondered if I should make an appointment for him. Without pain medication he refused to walk and even with, he refused to walk far and very slow tiny steps. Think 90 year old man with arthritis walking.

I asked his therapist and they said he seemed to do okay with them but after therapy it got worse. The pain he was in, even with his pain medicine prompted a trip to Walmart for arthritis cream and pain patches. He could not even get out of the car by himself and there were no handicap parking available so I had to carry him from some of the farthest spots because his door has to be open all the way for him to be able to get out of my car by himself, let alone me having to lift him out of his seat.

I had to carry him into the store along with his little sister which is not the easiest task. Those things seemed to help but he was still not himself and refusing to walk. I planned to ask the infusion center nurses to contact Wesley's geneticist for her opinion, as his next scheduled appointment was not until September.

She thankfully could fit us in the following Thursday at the local Children's Hospital clinic - only an hour and a half away from our house. Saturday and Sunday passed with no change. Perhaps the pain was even worse, with inconsolable crying "Ow, Ow, Ow..." through out the night which broke our hearts.

I made another appointment first thing Monday morning with his pediatrician - perhap x-rays to see if  there might be a broken a bone or something? Wesley would hold his right hip and leg more than the left. And he shuffled. It is so hard to tell because his speech, though better, is still limited. And with the chronic pain he already experiences, sometimes he just picks places, showing us, maybe that hurt the 'most', because all of him hurts.

The pediatrician said because Wesley has trouble with his legs anyway, she did not want to do an x-ray right away. She prescribed stronger medicine and said to call her on Wednesday if he was still having trouble. She said it's most likely 'just disease progression'. Just? Just heart breaking.

After Wesley's appointment that day, he went to regular therapy (which consists of speech, occupational & physical). Then we have our weekly chiropractor visit. The chiropractor said Wesley's back was out (of alignment) and she fixed (adjusted) it and she hoped it helped him walk a little easier. Thankfully that night Wesley slept through the entire night.

Wesley NEVER does that. He is up 3 times a night MINIMUM.  Every single night. He woke up the next morning with mild pain and limp. His limp is still there and he can no longer reach or stretch to his feet. He can no longer put his shoes and socks on or take them off. He has a harder time climbing and if he plays really hard, he complains of more pain than normal, which then requires medication, cream, and patches to remedy.

Thursday with the geneticist, we discussed the issues with Wesley's legs. She had contacted one of her colleagues who suggested another visit to orthopedics because it is not common for MPS children to need hip replacements. Let that sink in for just a moment.

MY 5 YEAR OLD MAY NEED A HIP REPLACEMENT!!!!!!!!!! I cried on the way home. She assured me that they do them all the time, not on 5 year old's she said, but it is a common procedure among the elderly and that it would help keep him mobile longer and that she did not think he would need it in the next year.


I cannot begin to tell you how much I hate this disease. How I hate that in one whole year, Wesley's heart has been destroyed and his whole body basically has arthritis which causes extreme pain and tries to take his ability to walk.

How I love watching him play hard and rough and tumble. But secretly dreading the cries of pain that always come later. In the middle of the night especially. The struggle to let him be a little boy and fight the urge to wrap him in bubble wrap. Always fighting that urge.


I do have some good news for you at last...
Wesley's speech therapist told us that he has outgrown using his PECS book. Which was his main source of communication when we first started therapy. She wants to look into an electronic communication device because Wesley is very smart and he deserves to be able to get what he is thinking and wants to say, OUT. 

WE COMPLETELY AGREE!!!!

Wesley also tried water therapy at the pool this past week. He loved it and he is now on the waiting list! Even if it took mama getting half way in the pool to play at first, I was very glad I wore shorts that day!

We are officially going to the National MPS Family Conference this year! If you would love to help us with the expenses of getting there, we would appreciate it very much!

https://www.gofundme.com/WesleysMPSwarriors

After the MPS Conference we are making our way to THOMAS LAND, which is a Thomas the Train themed amusement park, Wesley's absolute favorite thing.


And sister Ava is NOT a carrier, they called last week!

We are very thankful for every bit of good news we get!
Thank  you Warriors and please continue to pray for Wesley!

Be Brave Warriors,
Wesley's Mom

MPS Awareness Day 2016

Long Time Coming

Hello, it's Wesley's mom.

I've kind of fallen off the face of the earth. In my writing and I feel like that in general. This journey is hard. It tests me every day. 

As for Wesley, he started having 'absence seizures'  about a month ago. That Saturday he had two, an hour apart. I didn't know they were seizures then, but knew something was wrong when he spaced (completely) out and his body became rigid. Eight hours in the ER and tons of blood work later we were told it was seizures and to get an EEG.

This hit us hard. We weren't ready for that. They said it could be a one time thing and I held onto that hope for awhile. For as long as I could. It lasted 4 days. Then he had another one. I knew it wasn't a one time thing and that was defeating. They aren't regular. He can go a week without one. A week and a half even. Then out of no where, it reminds me. We have not been able to be seen by the neurologist yet so we are just waiting. It seems like we are always waiting. My least favorite thing of all. It seems I get used to our routine and then life says "master this next" and tosses another lion in the arena. 

The National MPS Family Conference is in Ohio this year. We want to go! We were unable to attend last year but it is our goal this year. We NEED to meet more families like ours. I feel like we need to make those connections to feel more support and belonging. It is so lonely sometimes being the family with a child with a life limiting disease (Hunter Syndrome) because no one else truly understands. 

I promise to start writing regularly again. We have a lot of new things in the works and I will tell them to you all a little later. I have to make lunch :) 

An updated picture of Wesley :)!

Playing with his sisters balloons from her first birthday party.