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. 

The End of Chicago

Hello,

I don't even know how to really start off this update. As it is sad and we are heart broken. Last Sunday, October 18, we packed up our family of 4 and got on an air plane -anxious, nervous, scared, and hoping that this trip would change our lives forever. We flew to Chicago to visit the children's hospital and get Wesley evaluated to see if he qualified for the experimental drug that has been saving and preserving the brains of boys with Hunter Syndrome. It is like the drug he gets infused every Friday but it is formulated to be infused in the central nervous system by a port surgically placed in the spine. 

There were 4 days of testing. The first, a GCA test (General Conceptual Ability). A more comprehensive IQ test given to children. The requirement was a score between 55-85 to be considered for the trial. That same day he had an echo-cardiogram and an EKG to check his heart. The next day he had a physical exam schedule. Wednesday the day after that, a Vineland test .Thursday was the day a lumbar puncture and MRI were scheduled. 

We found out at Wesley's physical appointment that Wesley did not score high enough to be considered for the clinical trial. His GCA was 47. His appointments stopped. Just like that, our hope was gone. 

See, this clinical trial has been going on for about 5 years. In those 5 years the boys that have been given the experimental drug, lives have changed. Their brains are developing. They are learning. They are retaining new skills. This drug is working. 

We wanted this for Wesley. We still want this for Wesley. Wesley and every single Hunter boy needs this. We are still looking at 3 years until this drug is passed by the FDA. That's three years of potentially, more than likely, losing skills. Skills that may never be regained even after this treatment is passed and he starts getting treatment. 

My heart hurts for that time frame. For praying and hoping so hard he would qualify for a better chance at life and knowing this could be a game changer for his life. There are so many emotions with this. It feels like a second Diagnosis Day almost: sadness, heart break, loss, scared, hopelessness, worry, uncertainty. Feeling a sense of unfairness that the person who wrote the criteria for this trial is denying it to the boys who need it the most. Boys that are extremely delayed, like Wesley, and so many others that did not score high enough to even finish the rest of the screening process. 

This is a very emotional time. I didn't expect it to be like this. I thought it would be yes or no. Quick, painless, just a decision. I guess my heart knew more than my brain -what was riding on this decision. A life. A different way of life. A better chance, a better quality of life. I know this isn't a cure but it could have helped him so so much. 

If you would just pray for us. We would greatly appreciate it. 

The rest of our days were spent at the Chicago Children's Museum, The Navy Pier, The Sky Tower, The Richardson's Farm; home of the largest corn maze, and lastly but most importantly visiting with some very dear family friends. 

Here are some pictures from our trip! 

Sky Tower view 

Family sky tower picture 

Hotel chillin'

Wesley's Dad and I with little sister Ava 

Wesley and his Dad at the tinker work shop at the Children's Museum

Our dear friend Caitlin and her son Timmy

Wesley's Dad, Wesley, our dear friend Susie, and her grandson Timmy

Wesley hanging out on an anchor at the pier 

During Wesley's Echo-cardiogram

Watching movies on the airplane next to Daddy 

Have a warriors heart, 

Wesley's Mom 

Breaking The Stigma

"When did you realize there was something wrong with him?"

The words shot out as if she'd asked me how old I was. Casual. Curious but hurried.

I said "Excuse me?" 

And she repeated herself; 

"When did you know something was wrong with Wesley?" 

Again there it was. A little less casual. A little more impatient. She was probably wondering why I just wouldn't answer her question. 

I replied "There is nothing wrong with him." 

"What about his disease?" She said.

"Oh, you mean the day we found out that Wesley is more special than we thought he was? May 8, 2015 at 11:54 am."    (Hunter Syndrome/MPSII)

My tone had turned to stone. I hate that question. It's on the list of no-no questions that you just don't ask special needs parents. I especially came to hate it before we knew and little children would ask me or Wesley's Dad that same question. 

I know she didn't know. Most people don't. That's how the world is; if someone is different it must be wrong. If it's not shiny and picture perfect it's a flaw or wrong. And anything else that doesn't fit into that normal box tends to make people uncomfortable. 

My family doesn't fit into that box because of Wesley's disease. Special needs children are some how only acceptable when silent and they do not disturb anyone else. It scares people because they don't know how to respond. Wesley may be different but he isn't wrong. There is nothing wrong with him. Does he have extra challenges? Will those challenges keep getting harder? Does he have a genetic disease? Yes. But does that make him wrong? Is there something wrong with him? No. Being born with a disease that no one has any control over does not make him wrong. 

No one wants anything to be the matter with their child. I understand that. I spent many days and nights praying that he was fine and healthy and that everyone was reading too much into it. If they all could grow up happy, care free, and die of old age that would be ideal. Though sadly, the children with MPS II don't get that ideal. As a parent I live with that fact daily. 

And please don't take me saying "no there is nothing wrong with him" as denial - because it is not. It's about breaking the stigma that different is wrong. 

If you are curious about someone's condition or why they are special, ASK. 

Most people are more than willing to share! 

Here are better questions:

What challenges does he face?

What makes him special? 

What is he working to overcome? 

And they will, more than likely, be very glad you asked, and happy to share. 

***Please keep praying. We need all the prayers we can get as we travel to Chicago on Sunday to be evaluated for the Intrathecal Trial that will help save Wesley's brain from further damage - if he gets in. I will update more about that this weekend. 

Have a Warriors Heart, 

Wesley's Mom

For more information on the Clinical Trial for MPS2, check out this link and scroll down the page to MPS2 (passed MPS1):   http://mpssociety.org/clinical-trials/

Over due.

This up date has been far away from the last one and for that I apologize. We went on vacation to see my Grandmother, she lives in the east coast near the beach and it's absolutely beautiful where she lives. She lives in a nice subdivision with awesome walking trails and nice people. I can't even begin to tell you how much Wesley loved it there, 5 whole days there. Sleeping in, naps, riding his tricycle, the beach. He rode his bike about a mile a day between the paved trail and the sidewalks! He would laugh and yell woo hop the entire way. He was filled with so much joy. The best part about this vacation was that we got to go a week without therapy, nurses, Drs, and needle sticks. 9 days he got to be a normal little boy. He was so happy there I wish it was possible for us to move. If only it were that simple. 

When we got back it was a rough adjustment. I didn't realize how busy we were until we had our first entire week home. Last November it started with one therapy day, then in December we added another day. Come January we added a third therapy on the second day. Then his Dr appointments started picking up like crazy. Then we finally had a diagnoses and it was hospital palooza complete with a two day hospital stay and surgery at the end. Then they added infusion days. We are gone out of house for Wesley's needs 4 days out of the week on a good week. And it's an even better week when we don't have to drive to the children's hospital. 

After an awesome vacation when we got home I got to experience the feelings all over again. It's heart breaking watching Wesley go through what he does every week. It's taken me so long to write this is because I have been hiding, basically. Maybe if I can just avoid it for a little longer it won't be true. Denial, it could be called. It's hard on my momma heart. Accepting. Coping. Stretching myself so thin so he has a better chance of having the best life he possibly can. 

The medical part of this update is that Wesley was diagnosed with hydrocephalus. It's excess water on the brain. His neuoroogist failed to mention that to me when we were there 6 months ago and this time he was like "oh, I didn't tell you?" 

I have been working on getting a lumbar puncture to check the pressure of the fluid in his brain since before I figured out the Dr had withheld information from us because Wesley has headaches and I have assumed that they were from pressure. 

I am very fed up with dealing with Drs who know nothing about MPS! 

Wesley is doing amazing with infusions. He can put his socks and shoes on by himself. He is starting to walk and run quicker and he is exploding with words. His newest are "donkey" and "it's cute" 

He fills my heart up with so much joy! I love watching him learn :) 

Thank you guys for praying, supporting, and encouraging us! 

Have a warriors heart, 

Wesley's Mom 💜

Fighting Discrimination

Today was our first true experience of discrimination. 

We had an appointment at the Social Security office before Wesley's normal scheduled therapy today. We got there and it was busy. It always is. Really, every single time I've been in there it's been packed. Wesley had his iPad going and the security guard told me that the volume wasn't allowed on, I said okay. I turned it down. That's hard for Wesley to do as he is hard of hearing and at least wants to hear a little bit. I had to take his iPad away from him because he doesn't understand to keep the volume down. 

After I took his iPad Wesley started getting restless, as you know, children do when they are bored. He started laying on the floor, flopping around, switching seats, being loud, playing with the handicap door open button. As I redirected Wesley away from the door for the third time; he started to cry. So I picked him up and brought him back to where we were sitting. He was starting to settle down when the same security guard that mentioned the iPad said "We can't have that in here, you will need to leave." I started to cry and explain that he didn't mean it, he couldn't help it and that our number was next in line but before I was finished he cut me off and said "that's enough.".

Fine. I understand that crying children are disruptive. I get that. It's also kind of inconvenient, but we had already been in there for 35 minutes and for that amount of time Wesley's behavior was pretty good. I grabbed my diaper bag, Ava's carrier, and Wesley's hand and we were walking out the door. 

This same security guard began to FOLLOW ME TO MY CAR explaining "there are people in there that can be set off by crying children and that I should be more considerate of others". We are all the way to my car by now, Wesley is crying because he thinks he is in trouble. This man is shouting as he is still trying to explain his a**holishness, as if somehow I should tell him what he is doing is okay. After Wesley was in his car seat, I walked around to the other side to put Ava in when I stopped. 

I stopped and looked at him then I just lost it and yelled at him, "Are you kidding me right now? Do you think I would be here if I didn't have to be? Do you think that we came here for fun? No. Do you think this is making him [my son] feel any better? Is this making anything better? You are mistaken and you are wrong. My son can't help this behavior because of his disease. And just like those people that 'might be set off by a crying child' those people are setting him off. Are you going to ask them all to leave? He is a little kid.".

In that moment, he noticed my disabled license plate and he knew he was wrong. He turned around and went inside. I put sister in the car and got in and cried. 

How dare he. How dare he kick us out because Wesley was crying for 2 minutes. Normally, I receive the looks, yes the dirty looks, but no one seemed particularly bothered by him today. I cried because I was in shock and angry. He wouldn't even let me explain. He obviously has no compassion for adults or special needs children. 
My sweet boy looks "normal" and therefore people judge him when he is having a hard time behaviorally. I'm still upset about it, partly. I have never been treated so poorly in a place of business. I never thought I would have to defend Wesley's rights in such a harsh way and as my MPS family (support group) told me, it probably won't be the last time. I've accepted that. I've fought a long time for Wesley. I've fought doctors for diagnosis, therapy, further testing, more diagnosis. And I'll fight for his rights. They are the same as anyone else's and no one will convince me otherwise. 

Have a Warriors Heart friends. I'm glad this day is over, 

Wesley's Mom 

P.S. The security guard then came back out and got us in next... 

Update: July 31, 2015

We were informed today that they cannot find a local facility to take us for Wesley's weekly ERT infusions. They are still looking, but our nurse said that most kids come here every week, because our Children's Hospital is the best place to get the quality care needed. This delay hurts my momma heart. I don't want to drive this long road forever. I'm very tired. We are overly busy as it is with therapy and his other appointments. Infusions closer to home were great news. That's been put on hold for we're not sure how long.

Wesley had an audiologist appointment this past Monday to try and see what we were doing wrong with his right hearing aid. It keep feeding back (screaming) no matter what I did to try and fix it. Turns out, it was malfunctioning so it got sent off to get fixed. We are blessed with a wonderful audiologist who truly cares about Wesley and listens to my concerns. 

Currently we are at infusion number 7. Wesley didn't want to take his medicine today. I had to hold him down and force it and that's truly awful. I hate doing that.  :( 

The numbing cream completely numbed his chest port today, although he was screaming from having to be held down, he didn't flinch at all when the needle went in. I've remembered to put it on the last two times as I keep the cream in my backpack all the time now just so I will have it.  Wesley is about to fall asleep. He is falling asleep with his "Moogie", my mom. I'm laying with Ava trying to get her to take a nap. She is so cranky today and since she is mobile now, she is getting harder to contain and keep happy as she wants to investigate everything by herself.

Infusion # 7

Thanks for reading. 

Please keep us in your prayers. 

Have a warriors heart, 

Wesley's Mom