December 8, 2013 in About MPS by Aunt Dawn
It is very frustrating to know that a drug is available to help your loved one and you are not eligible to receive it because of FDA regulations. Children with rare diseases do not have time to wait years for the government to cross all their t’s and dot all their i’s. Please read this post from Deb Purcell. Her son receives the new treatment since he was in the first trial, while Jack Fowler and many other MPS boys do not. This post made me cry. Read on to see how you can help.
Help Save Jack’s Life – by Deb Purcell
To read more about Jack’s story, visit: https://www.theisaacfoundation.com/jacks-story/, http://www.savingcase.com/index.php/2013/12/01/for-jack/, or http://www.treypurcell.com/blog/2013/12/02/help-us-save-jacks-life/.
December 2, 2013 in Events by Aunt Dawn
HITS for Hunter poster
The WVU boxing team is hoping to raise awareness and donations for the cure of Hunter’s syndrome at the Blue and Gold Boxing Exhibition on Wednesday December 11th at 7:00 pm at Mylan Park. Please come out and show your support. There’s no admission fee for the event, but please consider giving a donation. Hunter will be the guest of honor and all donations will go to help offset medical costs.
As we celebrated Hunters 4th birthday last week we are reminded that regression tends to begin for Hunters boys between the ages of 4-6. Now more than ever we need to spread awareness. Only through awareness and financial support can we hope to find a cure.
October 27, 2013 in Events by Aunt Dawn
This year most of the adults in our family traveled down to the National MPS Society Conference in San Antonio, Texas. Our time at the conference was spent learning new information, and talking to other MPS families. Everyone was amazed at the size of our group. A low down on the who’s who of our group – Tammy, Nate, and Hunter – Aunt Dawn (Tammy’s sister) and Uncle Ross – Aunt Shell (Tammy’s sister) and Uncle Dave, Nana (Tammy’s mom) and Pop-Pop Paul, finally, Grandmom and Pop-Pop Beam (Nate’s parents).
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August 28, 2013 in Updates by Tammy Slinka-Beam
First Day at School
Hunter started back to school yesterday and he seemed to do well. This year his bus comes much earlier, so we are hoping that his Pre-K teacher will have some luck getting Hunter to nap. I was very relieved to hear that Hunter had different aides at school this year, there was a few from last year that he was not very happy with.
Loving riding the bus
August 11, 2013 in Updates by Tammy Slinka-Beam
We leave for North Carolina this week to see if Hunter can get into Phase III of the Intrathecal Enzyme Replacement trial. I hear so many things from the families whose children are already in the study and I feel like there is hope for Hunter. I read an article the other day about drugs who have been allowed to be administered to everyone as a compassionate allowance once phase III of a drug study has begun. After reading the article I was frustrated: why shouldn’t ever child that has MPS II have a chance to receive Intrathecal Enzyme Replacement? I know that drug studies have to be performed, but at what cost when lives could be saved. For right now I am just praying and I am willing to take as many prayers as possible that he gets into the study.
August 10, 2013 in Updates by Tammy Slinka-Beam
We went on Hunter’s Make a Wish trip to Universal Studio and Disney to see Dora and Diego. The trip started with a Limo ride from our home in West Virginia to the Pittsburgh airport. It was hard to keep Hunter in his seat because he wanted to explore the inside of the limo. Hunter’s Aunt Shell, Uncle Dave and their 3 girls followed us down the next day. We stayed at the Nick Hotel in a Diego themed room. Hunter loves water, and so he fell in love with the water park that is part of the Nick Hotel. Daddy even got into the spirit when he danced the Hula with Sandy from Spongebob Squarepants!
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July 31, 2013 in Updates by Tammy Slinka-Beam
I know it has been awhile since I blogged but it has been a busy summer. Hunter’s Aunt Dawn and cousins came and spent the month of July with us. Hunter loved having all of his cousins around, and other kids to boss around, it made the evenings very interesting. On July 20th we went to the Ohio MPS Regional Conference. Hunter saw some old friends and made some new friends. It was nice to speak to the other MPS families, when we are around them I never worry if Hunter is being too loud or running around too much because the other MPS families understand. It was a long drive to Ohio with all the kids, both my sisters and their families went with us, but it was worth it. The day after the gathering we went to the Columbus Zoo and Hunter had so much fun. It is amazing how many more animal names he knows this year compared to last year. I can’t believe how much more he talks; he is even using five and six word sentences now.
We had another exciting milestone in July; Hunter FINALLY got his first home infusion. Nurse Wendy is our angel; she comes to the house ever week and gives Hunter his infusions. We have been doing the infusions in the evening which seems to work for Hunter; shortly after the infusion is done he is ready to go to sleep. Nurse Wendy has to drive over 2 hours to our house because no local home health care agencies were willing or able to work with Hunter. Now that we have the option of home infusions, Nate and I are able to spend our day off with Hunter doing fun activities that Hunter enjoys. Hunter had a few MRI’s over the summer which all came back good except for a small problem with his spine, but this is very common in MPS II boys.
July 20, 2013 in Events, Updates by Aunt Dawn
We left early in the morning for a 6 hour drive from West Virginia to Columbus Ohio to attend the Ohio MPS Gathering. The gathering was hosted by the Wojnarowski family and is celebrating it’s 11th year. Their daughter, Taylor, has MPS III B (Sanfilippo syndrome).
There were over a two dozen families with children that have (or had) an MPS disease. It was a great chance to meet with other families that were going through similar experiences. Hunter had a great time at the event, as did we.
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July 17, 2013 in Updates by Aunt Dawn
Hunter’s first in-home infusion
Tonight Hunter got his first in-home infusion of Elaprase. This enzyme replacement therapy helps to replace the missing enzyme associated with MPS II. Not long after he gets this treatment you can see signs of it helping. Unfortunately though it does not cross the brain blood barrier, so it won’t prevent cognitive regression.
Hunter’s nurse, Nurse Wendy, is amazing. She was able to access his port on the first try – something that many of the hospital technicians had trouble with. It takes her over an hour to commute to Hunter’s home and the infusion takes 4 hours total.
I was happy to be visiting during this important milestone. Above is a picture of Hunter sitting on my lap during the infusion. He needs to sit still for 3 and a half hours, a very difficult task for any 3 year old – let alone a 3 year old with hyperactivity (a symptom of MPS II).
June 11, 2013 in Updates by Tammy Slinka-Beam
Hunter’s new “do”
In a few days, it will be our one year MPS II anniversary. Our life has definitely changed over the last year. Things that used to be important are no longer important. The things we took for granted are now in perceptive, we learned to slow down and enjoy a smile, a laugh and early morning kisses, even if they are given at four in the morning. We treasure every day, every minute, every second, even when he is out of control, that we get to spend with Hunter. Our life has now and will always be like a roller coaster ride, many ups and many downs. Normal, this is are new normal. Whether it is driving weekly to Pittsburgh for his infusion, fighting with both Blue Cross and Blue Shield and the Board of Education or wearing something purple, my new favorite color, at the end of the day I know I did my job as his mother. Hunter does not know he has a life threatening disease and I would not want it any other way. Hunter loves his nurses; he even gave them all nicknames, he loves seeing his awesome and lifesaving Genetic Counselor Katie and looks forward to going to the doctors. Hunter loves to make sure his nurses are on point by bossing them around and telling them step by step what needs to be done on Infusion day. He loves to greet everyone that walks in the infusion center with a Hi and a smile.
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