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When People Ask How My Son With a Rare Disease Is Doing

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“How is he doing?” 

“He is better now, right?” 

“Is he no longer is sick anymore?” 

“All good with him?”

“He seems to be doing so well!”

These are much more loaded questions/comments than they would probably be for a typical child. There are many different ways I have been asked how my son is doing at different points on our journey. In some ways, it is a funny question, because it is not like he has an illness from which he will recover. There is no cure for his genetic disorder. There is no straight, short or easy answer to give.

That answer can also change on a daily or even hourly basis. Most of the time I know that when it is asked, the person is generally wondering how he is doing in the broad sense of the term, but I don’t think they want to know all the nitty-gritty details. The detailed answer takes more time and explanation than many people want to sit through but that more thorough answer gives a better picture of how he is doing.

The easy and short answers are, “he is doing well” or “he is having a rough time,” and there is a degree of truth to those answers.  Those answers are easy to give, acceptable answers, but they do not always give the reality of how he is doing or how our family is doing.

The long answer may be that he is still highly medicated and those medications are wreaking havoc on his body. We find a solution to one problem, but that solution causes other issues we then have to treat. We constantly feel like we are in a cycle of solving problems just to cause new ones to solve.

The long answer may actually be that his gut is acting up thanks to his meds and his inconsistent eating habits.

The long answer may be that we have a bunch of procedures/surgeries coming up and we are stressed out and scared about the sedatives and what they will do to his body.

The long answer may be that he is stable but his brothers are reacting to everything that is going on in their lives.

There is no easy way to put how he is into one brief sentence without leaving out a whole lot of important and usually overwhelming details. I want to focus on things that are getting better and ways he is improving, but I feel like focusing only on the good negates the struggles he is still facing.  Focusing only on the struggles negates the improvements he is making. It is a hard balance to share both the good and bad, to be optimistic and realistic at the same time.

With Hurler syndrome, we have many things that we may not be addressing at the moment and just waiting to address. Some of that is due to not wanting him sedated more than once or twice a year. Some of it is due to knowing what needs to get done and wanting to wait as long as possible to address it. Either way, just because we are not in a medical crisis at the moment does not mean one is not on the way. It is hard to explain that reality to people without sounding pessimistic.  It is hard to say that right now, we are only mildly concerned about something like his joint issues and orthopedic issues, but we know within the next few years he will need surgery on them.

One of the hard things about having a child with a rare disease is that at any given moment, things can change. One doctor’s appointment can result in a new med or surgery. In some ways, we constantly live our lives on eggshells — making plans for the future but preparing alternative plans in case we have to adjust due to some curveball the disease throws at us. Being part of the MPS community we can see the surgeries other kids have and that we know we will most likely have to face. It is not a matter of being negative or pessimistic but more being realistic. There is a part of us that has to constantly plan for and prepare for the speed bumps that will be coming up.

How is our son doing? He is living and he is progressing and growing. Some things are improving. Some things are the same and some things… we have to work on.

Getty image by Tatiana Soares.

Originally published: May 3, 2021
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