To the Parent Whose Child Was Just Diagnosed With MPS II

I know that face. The word mucopolysaccharidosis (MPS) might not have meant nothing to you when the doctor first mentioned it to you. Then you went home to Google it and saw the words “progressive” and “life-limiting.” And everything you knew, everything you hoped for your child, came crashing down. People looking at you going about your daily life might not realize, but if they look closer, they would see something has changed in your eyes. You can no longer focus on what’s right there in front of you because the thoughts racing through your mind are much more real and much more scary. I know, because that was me eight months ago.

I’ve been through many emotions in the last few months: disbelief, dawning realization, depression, anxiety, anger, devastation, guilt… You name it, I’ve been there. The worst times were often the periods just before hearing the next bit of bad news. The times when I could almost convince myself that things would be OK, that it was just a mistake in the testing lab, but I just didn’t know. Then I would get hit with it: yes, he does have MPS; yes, it is MPS II; yes, it’s the most severe version of that.

The simplest of decisions would make me pause. I would stand in the kitchen wondering what to cook for dinner and still be none the wiser half an hour later. Doing the supermarket shopping once, a particular song came on the speakers and instantly I was sobbing in the vegetable aisle. It felt wrong and unreal that life could carry on around me.

You might not believe it, but it has got better. There are more brighter moments now. A meal out. The support from my family. A bit of sunshine. Talking with a good friend. Baileys hot chocolate. Cuddles with my boys. All these things make a difference.

And lately there have been two wonderful things pop up in my newsfeed about medical advances, and though both of these cases were different from our situation, it’s a start. Medical advances can and do make huge leaps. Just think, there used to be no treatment for MPS II. Now my son receives an infusion of an enzyme that halts many of his symptoms, and we have just got on a clinical trial for a version that may also halt the progression in his brain.

Whether a cure comes in time for him is still very much unknown. But when I look at my son, I see a boy who is busy enjoying life with such vitality and commitment. His warmth draws answering smiles from anyone, and he always has loads of hugs to offer.

It may not always be this way, and I know there will be plenty of times I rail against this horrible condition. But for now, I choose to remember the words they told me when I first rang the MPS Society: he is the same little boy he was before diagnosis, and enjoy him for that.

Little boy standing in front of a tree outdoors

The Mighty is asking its readers the following: If you could go back to the day you (or a loved one) got a diagnosis, what would you tell yourself? If you’d like to participate, please send a blog post to [email protected] Please include a photo for the piece, a photo of yourself and 1-2 sentence bio. Check out our Submit a Story page for more about our submission guidelines.

Find this story helpful? Share it with someone you care about.

Related to Mucopolysaccharidoses

Mom holding infant son in her arms outdoors

The Big Mistake I Made on My Son's Diagnosis Day

If I could go back to the day my son, Jacob, was diagnosed with mucopolysaccharidosis type I, I would do a whole heap of things differently. But there’s one thing that stands out. We had been searching for answers to my son’s medical issues since the day he was born. He was consistently in and out of [...]
man with MPS surrounded by group of nurses

To the Nurses and Staff Who Have Become Family to Me Over the Last 12 Years

I was plenty nervous stepping into the infusion oncology center for the first time, despite already having gone through the same IV procedure at several other hospitals. The staff had never seen or heard of a person with MPS before, and the IV therapy had only been taught to them a week prior. But from that day forward, [...]

My Daughter’s College Essay About Her Brother With Autism Brought Me to Tears

When my daughter, Lauren, left for college in August, it was hard on all of us, but I think it was the hardest for her little brother, Dominic. She’s been there for him since he was born. The separation for the two of them has been difficult at times, but I’ve raised both to be strong [...]

The Top 10 Best Gifts for Kids With Autism

Holiday shopping is tricky, and if you’re new to the autism community, you may be wondering what gifts will both help your child and fill their heart with glee. So we asked our Mighty readers what toys their children with autism loved the most. Here’s what they had to say: The Airwalker Therapy Swing:   This therapeutic [...]