After the whole NG tube business I had written an email to our renal clinic nurse saying that we were sick of not being listened to and in the future we needed to be better informed about why these decisions were being made. After some back and forth between us we had sorted everything out. From their point of view they were listening to us but honestly felt that the NG tube was the best way for Elsie to get her nutrients and the amount of water she needed. From my point of view I was frustrated that we went ahead with the NG tube when we were sure that it was not going to work and I was upset that I didn’t have the guts to say no. One of the things that came from this exchange was that they recommended we get a second opinion from another Nephrologist. Immediately I felt bad because we never felt like we were getting sub-standard care from our Nephrologist and besides the NG tube we were very happy with her. But I knew the doctor they were recommending has been seeing another girl with cystinosis for 12 years now so we were looking forward to meeting with him and seeing what new knowledge and care we could get from him.
We are SO happy that we met with him. Right away he was just a wealth of information specifically about cystinosis and because of that he was able to look at Elsie as an individual with cystinosis. Before then we felt like Elsie was being treated as a typical cystinotic but we weren’t so sure that she was. There are so many stories out there about these children having an unquenchable thirst and soaking through diapers in the matter of an hour and Elsie has never been like that. We’ve been trying so hard to get 1.5 litres of liquid into her when it turns out that drinking enough liquid is not usually a concern for cystinotics because they just can’t get enough of it. So finally after months of trying to explain that Elsie just didn’t seem that thirsty someone finally got that! He was amazed at how she went a full 20 minutes without going to her water bottle and wants to do some more tests to see if Elsie has maybe a mild form of cystinosis or perhaps a new CTNS mutation that hasn’t been seen yet.
He was also shocked that she wasn’t wearing sunglasses in such a bright room. Photophobia is a very common problem for cystinotics because of the cystine crystals that form on their corneas and while Elsie seems to have a bit of a sensitivity to light it doesn’t seem to be as extreme as in some cases of cystinosis. This symptom I think varies pretty widely among cystinotics though. But he mentioned that in his career he’s probably seen about 10 to 15 different cases of cystinosis and almost all of those patients needed to at least wear sunglasses when outside and we’ve never been able to get Elsie to keep sunglasses on for more than a few seconds. Thankfully though she seems to be coming around to them now that she’s a little older because cystinosis or no cystinosis I still worry about her eyes!
And then he asked us if we’d heard of Procysbi, the delayed release form of Cysteamine, which only needs to be taken every 12 hours as opposed to Cystagon which must be taken every 6 hours. Obviously we have heard of it and would love to get Elsie on Procysbi but it is not yet approved in Canada and the cost is astronomical at over $250,000/year! However one of his patients is in a Procysbi trial out of Stanford University and as part of the trial the medication is completely covered. We actually met with this wonderful young woman and her mother in January when they were in town and although Procysbi is already approved in the US, they will continue to supply her with it until it becomes available in Canada which is just amazing for them. So he offered to contact the study on our behalf to see if they were taking new patients. I’ve since heard back from him and unfortunately they are not but he says that there may be other ways to get Procysbi to us and he will continue to keep his eyes and ears out for us if any other trial becomes available. Although I have already registered Elsie with the Cure Cystinosis International Registry and on the Cystinosis Research Network to be notified if any trials come up that she would qualify for it is amazing to know that there is someone in the medical profession looking out for Elsie too.
Finally we talked about how Elsie is doing body wise. Her labs came back looking really good with all of her electrolytes in their desired range and due to this fact he thinks that she is getting an adequate amount of nutrition and liquids which was so awesome to hear. However she didn’t grow too much more since her last visit. She’s still in the 0.1 percentile for both weight and height but she’s not growing as well as they had hoped. So he is recommending we try growth hormones. Growth hormones have become a fairly standard practice for children with cystinosis to try and help them catch up with the growth curves. Many adults with cystinosis tend to be much shorter than their parents. I had actually brought up growth hormones with our first Nephrologist and she had told me it wasn’t really something they would look at yet since Elsie is so young so I was surprised to hear this new Nephrologist recommend them. But if it will help Elsie get back on that growth curve Dave and I are all for it. However administering growth hormones requires a nightly shot which may not go over too well with Elsie, but we think that it’s at least worth a try. So there are some more tests Elsie will need to do to make sure growth hormones are safe and could work for her, which we will probably get done before we see them next in April. The really exciting thing is that at this time he is recommending the growth hormones over the G tube. Which makes Dave and I so happy because we’d like to put off the G tube surgery for as long as possible.
We are so grateful we were given the opportunity to get a second opinion and see someone who has had some real experience with cystinosis. Even though we didn’t feel like our first Nephrologist was that bad now that we’ve seen someone with experience we can see that the difference is huge! If I have any advice for other families out there with cystinosis it would be to try and seek out a medical professional who has treated patients with this disease before. I know that it can be quite difficult since it is such a rare thing but for our family it was been amazing, and that has just our first visit. Once again I am looking forward to Elsie’s future with some more positivity, hooray!
Elsinosis: Living with Cystinosis 