Early Years

Finding Out About Cystinosis

Cystinosis? What the hell is cystinosis?

Just Born

Elsie was born a bright, beautiful and large baby girl (8lbs 11oz) who immediately made everyone that met her fall in love. As our first child, Dave and I were in for a sharp learning curve. You mean she needs help to fall asleep? But by 2 months we were starting to get the hang of it and Elsie was doing extremely well. In the 95% percentile for height and 75% percentile for weight there was nothing to be concerned about. By her 6 month check up our doctor said her growth and development were great so there was no need for extra check ups until 1 year.

Probably around 9 months or so I noticed that she didn’t seem to be growing too much. She was a picky eater and I figured since she was so big to start with, she was just slowing down a bit. I told myself not to worry. At our 1 year check up we were shocked to learn in the past 6 months Elsie had not grown in height and that she’d actually lost weight! Still though she was a happy girl and her motor and cognitive skills all seemed to be right on course so there was probably nothing to worry about.

We were referred to a Pediatrician to look into it further but most just figured she was just a small kid. She was sent off for a blood test (which by the way is so sad to put your little one through) which showed that her minerals, like sodium, calcium and potassium, were low. So she was referred to the renal clinic to check out her kidneys as it appeared she was losing these minerals in her urine. After some more blood tests, urine tests (dealing with a collection bag has also been a joy) and an ultrasound of her kidneys we met with a Nephrologist at BC Children’s Hospital. The weird thing is they didn’t even go into any detail about the results of these tests. I was asked tons of questions of her health history and told about additional tests they wanted done and it all seemed like so much I didn’t even think to ask what they’d already found! They wanted her to see an Ophthalmologist. But why? All I remember is being told that there was a rare condition that can affect children and it could be more confirmed through an eye exam. They would contact me later as they tried to set up the appointment, but there was no need to worry just yet.

A couple days later I got a call from the Ophthalmology department saying they could squeeze her in for a visit that day. Why such a rush I wondered? So we went down, waited around, got some eye drops to dilate her pupils, and then it was time for our check up. Since Children’s is a learning hospital she was first checked out by a med student who looked at her eyes then said she would go get the doctor but everything was fine. So he comes in and checks her out while the student tells him that all looks good. After looking at Elsie’s eyes he then looks at the student and tells her to look again. What? Why?

Finding Out About Cystinosis

“Yep,” he says, “I spoke with your Nephrologist about Elise (couldn’t even get her name right!) and they’re right, the crystals are there on her cornea, she has cystinosis.” Um, what? He goes on, “here’s a prescription for eye drops that she’ll need to take twice a day, see me again in 8 months.” Okay, how long does she need to take them for? “The rest of her life!” What does she have again? I guess since they’d squeezed us in he was very busy as all he said was that she had cystinosis and that our Nephrologist would contact us soon to talk about it.

So I go fill the prescription (which takes about 3 days because they have to make it in a completely sterile environment) and we go home. All the while I’m trying not to freak out too much because I don’t know what it is and it could be totally harmless. Right? Luckily my sister was visiting so she was able to play with Elsie while my husband and I googled cystinosis, which by the way is a horrible way to find out about any disease. The first site we visited was Wikipedia. Okay starting to freak out a little bit.

Long story short, after about an hour of looking up sites both my husband and I are in tears and terrified about the future of our little girl. There was an ABC story about a family in the US whose twins had cystinosis and it had all this stuff about expensive medication, horrible side effects, and a tight schedule that requires the medication to be delivered every 6 hours, even in the middle of the night! (If your child has just been diagnosed I strongly recommend you do not try to find and read this article. Stick to the sites dedicated to cystinosis like the Cystinosis Research Network, much less doom and gloom) I decided to leave a message for the renal clinic at Children’s Hospital begging them to call us as soon as possible.

After having the worst night of my life we finally get a call from them the next morning. They aren’t able to see us until Monday. But it’s only Friday, and we’re freaking out! So after living through just an awful, sad and nervous filled weekend, Monday morning finally comes around. We get in to see the Nephrologist and she confirms that they believe Elsie has cystinosis. Thankfully we are able to get some of our questions answered such as quality of life, medication side effects and life expectancy. It was a huge relief to learn that although at first cystinosis seemed like a horrible disease that would cause problems for our baby girl all her life, it could actually be managed and she can have a relatively normal life.

I decided to created this blog so that other families can get a better understanding of how cystinosis really affects someone’s life. That was, and still is, my biggest question and I found that the answer seems to be missing from the web. So here is a place where we can all follow Elsie’s journey through cystinosis and hopefully find a lot of love, happiness and reassurance that everything is going to be okay.

Mom and Daughter

9 thoughts on “Finding Out About Cystinosis”

    1. Hi Ashton, I just checked out your blog and it’s great! I’ve added it to my resources page and I really wish I had of found it when I was doing all that google searching!


  1. Hi Guys– What a fantastic Blog Amanda–so thorough. This is wonderful and we love the idea that we can check in and see how everything is going. Thinking of all of you each and every day!!!


  2. Hi, I’m 34 living with Cystinosis from Australia. I know it sounds like your life has been turned up side down, but please look at the positive things in life.
    My life hasn’t been the best but I’ve had the best life!
    Serena xox


    1. Thanks Serena! This post was written almost 3 years ago now about a month after Elsie’s diagnosis. Now we are all doing very well and there are most definitely many positives in our lives that we are thankful for! Thank you for your advice, it is great advice for parents when their child is just diagnosed 🙂


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