6 Lessons I’d Like to Share With Parents New to Cystinosis

Shortly after my daughter was diagnosed with cystinosis, I was lying awake in bed one night with my mind full of thoughts and me desperately trying to silence them. Then an idea popped into my head. Maybe I should start a blog. I felt scared, alone, broken and hated the idea of anyone else feeling this way.

There were so many questions I had and so many unknowns in our future, and I knew there must be other parents out there who felt as I did. I wanted to help. I also hoped that writing out my feelings and the many, many thoughts that kept me up at night would give me some peace. Although I have certainly found a lot of healing therapy through writing, I can’t say it’s done much for my overall sleep.

But my main motivation for publicly sharing our challenges and triumphs was my desire to help others, namely parents who would join our community after me. To think that I might make a challenging time in my life a little bit easier for someone else gives me hope and a deep sense of connection to the cystinosis community. And to actually have someone thank me has been so fulfilling.

So I thought I’d share some of the things I’ve learned over the past couple years and the advice I would give to parents new to cystinosis.

1. Your journey is not the same as your child’s.

Many say that cystinosis can often be harder on the parents than their children. I hope very much that this is true. In the beginning, I was so upset that this was happening to my daughter. Why couldn’t it be me to take all the pain? Someone so young and innocent didn’t deserve it.

But right now I’m the one who’s keenly aware of the injustice. I’m the one who worries about making the right treatment choices and who frets about how much she’s eating or how much she’s growing.

My daughter, however, seems happy and mostly carefree. She doesn’t know any different nor does she appear to lament it. She has the same childhood as any other kid with a few added inconveniences but, at least for the moment, the fear and the heartache seem to be all mine. I am in no way, shape or form trying to say parents have it harder. Just that you’re both hurting in different ways, and I for one find comfort in knowing that I can at least take the brunt of the emotional pain.

2. Look for the positives.

That may sound like a ridiculous thing to say when your child is first diagnosed, but there are silver linings to be found. You’ll be amazed at the strength and courage that such a little person can possess, and every day will provide another opportunity to remain in awe of your child.

This can also serve as either a wake-up call or a reminder that the time to live life is now. Your child deserves the most amazing life and so do you. Don’t let fears or apathy hold you back. Get out there and do it! My biggest silver lining is the amazing and supportive community of parents, caregivers and adults with cystinosis. They ease my fears, answer my questions and give me hope.

3. Be mindful about what you share.

This isn’t something I overly considered until it was brought up in a writing group that I was a part of. Some people feared that in our mission to raise awareness and fundraise sometimes parents overshared and essentially took advantage of their children by using their pain and vulnerability for sympathy.

Immediately, I regretted sharing a picture of my daughter. It was minutes after her nasogastric (NG) tube was inserted as she was lying with her eyes still red and face splotchy from her struggles. I shared it because she now had a visible sign that she was different. It broke my heart when they inserted it, and I thought the weary look on her face represented how tough it can be sometimes. But that picture was taken after a very traumatic event for her, and she was extremely vulnerable. How would I have felt if that had been me? Would I have wanted that moment shared on the Internet for the world to see?

4. Don’t let it scare you from having more children (if you want more).

After her diagnosis, I became torn on whether or not we should have more children. We both wanted another baby, but we also worried about having another child with cystinosis. The disease was still so new to us, and we really didn’t know how it would affect our daughter longterm. Was it the kind of life we wanted to give another child? Could we handle the guilt?

Since accidentally getting pregnant and having my son join our family, I have to say that my outlook on this issue has completely changed. When I was pregnant, I’d decided that I had to know if my unborn baby had cystinosis so I could be prepared and have cystagon medication ready for them to take on day one.

So I had an amniocentesis done to test the fetus’s DNA, but it came with a one in 200 risk of miscarriage. Everything went well during the procedure, but that night I had some amniotic fluid leak and it was terrifying. I remember lying in bed crying my eyes out and wondering why the hell I cared so much. In that moment, it didn’t matter to me if my baby had cystinosis or not. I just wanted him to be OK. And I realized in the end that’s all that really mattered to me. Cystinosis or not, this baby was meant to be in our lives, and we were going to love him unconditionally.

5. Hate is a strong word.

I have heard quite a few adults with cystinosis say that they could never hate cystinosis because it’s a part of them. Just like having freckles or brown eyes, cystinosis is in their DNA, and it has helped shape them into the person they are today.

There are many awful things that can happen as a result of cystinosis. Things that I would never want anyone to endure, let alone my precious daughter. My mama bear instinct is to immediately fight and loathe anything that dare cause her harm, but on the flipside, I also love her completely and wholly. Saying that I hate cystinosis is like saying I hate a part of her and that simply isn’t true. While I dislike cystinosis and want to do anything I can to help researchers find a cure, I will never hate anything about her.

6. Let them be kids.

Many parents can have a tendency to coddle their children and hold them back from things because we want to protect them and keep them safe. I’ve found this tendency gets kicked up a notch after receiving a diagnosis. My daughter is prone to overheating quickly when exerting herself and rapid dehydration when sick, so does this mean that to protect her I should keep her out of sports and avoid social gatherings every time someone isn’t feeling well? The poor girl would miss out on the many benefits of organized sports and socialization if I held her back from everything that could result in a trip to the hospital. In fact, she’d probably never leave the house!

In order for her to have a well-balanced, happy life, she needs to be treated like any other kid. Yes, there are precautions that need to be taken to try and minimize her risks, and there will probably end up being certain things she simply won’t be able to do, but she also needs to be free to try, explore, get messy and live life fully.

There may be things on the list that resonate with you and some things you don’t agree with and that’s completely fine. Cystinosis affects everyone differently, and my views may not make sense for your family. If that’s the case, I hope this post has at least opened your eyes to another way of thinking, but also trust in your instincts and know you’re only trying to do what’s best for your loved ones.

And if you are new to this whole thing, please reach out to the community and join some support groups. We’re all here to help and answer any of your questions.

Follow this journey on Elsinosis: Living with Cystinosis.

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