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When You Have a Rare Disease, You Find Out Who Your Friends Are

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I left treatment for phenylketonuria (PKU) as a teen and returned in my late 20s after so many health and emotional issues it’s hard to count or even explain. I found returning to be probably the hardest thing I have ever done in my life, there were so many roadblocks and sidesteps. The entire time we were reviewing treatments and deciding what to do, my husband worried my return would cause my personality to change and me to be a different person. Dean met me when I was “off diet.” I started having my worst off-treatment side effects shortly after we met, so he didn’t know any other me from the get-go. This, coupled with the fact that no one in his family knew what PKU was and some really didn’t even believe it was a real thing, (because being “sick” and having a rare disease just didn’t fit into their version of the perfect family scared him), it put what was already a rocky marriage into an even rockier place.

So where do you go from there?

For our marriage’s sake, I put my health on the back burner once again. It seemed like too heavy a burden for us to endure, so I started doing just the bare minimum treatment in order to deal with life.

Then I started having issues driving. I’d get lost for hours at a time driving from my mom’s home to ours or from work to home. I was having issues walking and navigating stairs, I would lose vision in my right eye, I couldn’t find the right words to say, and I began to have a pronounced stutter.

So now what?

I had been trying so hard to balance a double life of pretending “there is nothing wrong with me” and keeping my PKU a secret that it was beginning to take a tremendous toll on me, our relationship, my work and every other relationship I had. This was around the time they were recruiting for the Palynziq (formerly known as Peg-Pal) studies. I desperately wanted to participate, so I discussed it with my metabolic team, my mother and then Dean. We all decided maybe it was worth a try. To be honest all we saw were more roadblocks at first. If I could get myself accepted, the nearest study was over a four-hour roundtrip from home (remember I couldn’t drive). It would require these lengthy trips every other week, then monthly, so that made working pretty much impossible. I would need someone to stay with me while I injected for observation. There were so many cons to each pro. My mom very much wanted to see me –at least try—so she offered to take time from her schedule to accompany me, and much to my surprise Dean also decided this may be the best thing for me, even if it required him to take some time off and go with me. These pledges of time and support were so helpful and a blessing, but frankly, easier said than done. None of us really took into consideration how time consuming this study would be and how long it would really last. About a year and a half into the study it all became too much for Dean and my mom. They couldn’t continue to take the time off. I don’t blame them; it was a lot of time and commitment. Once again, the light at the end of the tunnel began to fade, which couldn’t have come at a less convenient time. Almost all my side effects had gone away and my Phe level was finally responding to my injections. What was I going to do?

Enter my friends.

The author and her two friends smiling

Terry and Jackie had been following my progress and checking in with me throughout the study so far. I told them what was going on. Neither of them were working at the time and they thought, “Why can’t we take over? Dean can observe you at home, but we can make the trips with you. It will be fun.” Fun? OK. A two-hour drive there, staying overnight in a hotel, sitting in a hospital room and then a two-hour drive home. Fun? If you say so.

Honestly, to my surprise, something that had become a lengthy chore became fun. The girls made a trip of it. We would leave Sundays after I got out of church and drive down early. We’d get take out and relax in the hot tub. The clinic allowed me to sign release paperwork for them to sit in on my visits to learn all they could, they’d sit there while I did the ADD evaluations and laugh in the corner (they were pretty sure they had ADD too). After my appointments we’d grab lunch and sometimes thrift store shop then head back home.

I started getting better and better.

We would take the trips and decide what our next adventures would be, dreaming of what we could do to help other PKU patients. These trips are where my travel agency and our foundation really started to come into focus. I told the girls I wanted to travel, but I couldn’t see doing it alone. All the meds, getting myself from one place to another seemed like too much. While I was light years from where I had been, I still had my moments. They chimed in. Why do you have to do it alone? We’re here. We can be there too.

It’s been nearly three years since Jackie and Terry started this journey with me. And they have been there through thick and thin — for all my treatments, a few late nights in the ER, cruises, lobbying in Washington D.C., conventions and now public appearances across the nation. They followed me and kept me in focus at my first and second Miss Plus America Pageants. They’ve committed to being there for a third. They are also by my side as we begin the journey of beginning the Royalty en Route Foundation. I never asked them to be there. They were just there.

Through this journey, I have indeed lost some friends. Some say my personality did change, but those closest to me say it didn’t so much change as I was just becoming more outspoken, more driven and my light was shining a little brighter. There’s nothing wrong with that. There are no words to express my appreciation for my family and friends who have stood by me. They became my light when I needed something to guide me back or help me look forward, and I can’t thank them enough.

#HelpEachOther #RoyaltyEnRoute #PKUStrong

Originally published: November 2, 2018
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