Celebrating Case’s Heart on MPS Awareness Day

Posted Wednesday May 15, 2013 by Melissa

Happy MPS Awareness Day!

Purple butterfly cupcakes for MPS Awareness Day

Purple butterfly cupcakes for MPS Awareness Day

Many rare diseases affect the heart – that muscle that powers our movement, our strength, our … love? In MPS, I have my priority list of organ systems to treat – those that are the most likely to debilitate and cause early or eventual death in my child. They are my core three.

1.     Brain

2.     Heart

3.     Airway

The intrathecal trial has been more than we could ever ask for. Of course, the goal was to stabilize the brain so it would not decline and eventually shut down the body. I don’t know that anyone can argue that that has been a rousing success.

But it is all the additional benefits that have been quite interesting as well. As I’ve said before, Case’s entire body and look have changed. His skull has changed. Facial features. That MPS “layer of fat” has disappeared to reveal … stomach muscles? Arm muscles? Those that are often flaccid and smooth in MPS II boys as they were in Case prior to the trial, even after 18 months of Elaprase.

But those extra effects can simply remain in the category of interesting until they affect one of my core three. And that, my friend, is what brings me to this post.

Case’s heart.

Working together to give Case his "rest" for dosing

Working together to give Case his “rest” for IT dosing. Picture by Lisa Jarvis, C&EN

Prior to the intrathecal trial, Case had mild to moderate aortic and mitral valve regurgitation. Case has an excellent cardiologist at Vanderbilt, one who knows mucopolysaccharidosis and the heart problems it creates.

One year ago, at the end of the long appointment of echocardiogram and EKG and other tests, he smiled and said Case looked “very good.” Now, I can read people, and I knew there was more to the story. Doctors should know better than to tease a mom. 🙂

He noted that he thought there was improvement, but he hadn’t wanted to say because he wanted to give it more time. So, instead of returning on the normal six month schedule, he wanted us to wait a year. And we did.

That year was up last Thursday when we marched into cardiology, completed the tests, and waited.

And that, ladies and gentlemen, is called anticipation.

The result?

Case and his brother "resting" after IT dosing. Picture by Lisa Jarvis, C&EN

Case and his brother “resting” after IT dosing. Picture by Lisa Jarvis, C&EN, , from slideshow of rare disease

Improvement. We have definite improvement in the aortic valve and possibly in the mitral as well. Another yearly wait on that one, but I will take ANY improvement in a degenerative disorder.

In many ways, Case’s version of MPS is no longer degenerative. It is improving.

And for those reasons, I’ve had attenuated Hunter Syndrome friends watching our situation quite closely. Having seen the physical improvements first hand, they find themselves wondering whether they should be seeking intrathecal treatments themselves.


But there is still work to do. If you’ve seen the recent article in C&EN that Case was featured in (Regulations are Cause for Concern), you know that even with such incredible results, it can be difficult for a company to show the FDA that a drug is working, especially when you are dealing with a drug trying to affect the brain, but with cognitively affected kiddos who really get sick of cognitive testing. But no one could meet Case and not be bowled over by the profound differences from two years ago, much less from where he would have been without this trial.

So, keep raising awareness, keep donating, keep working so that MPS is more known and understood and maybe we can give more kids the amazing opportunity that Case has had.

In honor of MPS Awareness Day, I would be honored if you would choose to donate any small amount to the National MPS Society in honor of Case. You can give via text:

1. On your cell phone send a text message to 80888
2. In your message box type CUREMPS
3. A message will notify you in less than 30 seconds to confirm your generous donation to the National MPS Society
4. Follow the directions and reply by typing YES
5. You will receive another message thanking you on behalf of the
National MPS Society for your donation. You will be billed for this
donation through your mobile carrier such as Verizon, Sprint,
AT&T, etc. Verizon. Simply use your mobile device to complete the transaction.

Alternatively, you can make a donation by visiting www.mpssociety.org.

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