The Year Ahead


At the end of this last year in November we were fortunate enough to have an appointment with a biochemical disease doctor, Dr Galina Nesterova, who just so happens to have a lot of experience treating people with cystinosis. It was so amazing to finally be able to talk with an expert in the field and feel like my concerns were being properly addressed. Don’t get me wrong, I think that our nephrologist and all the support people we see at the renal clinic are great but sometimes I’ll bring up an issue which is fairly common among the cystinosis population and I’m met with resistance. I feel like my concerns get dismissed because they might think I don’t know what I’m talking about.

Here’s the thing though, I have far more time available to research cystinosis and the sorts of things I should be looking out for than they do. And I understand there’s a thin line between being cautious and overly paranoid when it comes to rare diseases but when I bring up a concern, I want to feel like I’m actually being listened to. For example I’ve been concerned about Elsie’s legs going a bit knock kneed and have been told several times from the renal clinic that it’s fairly common in children and they usually grow out of it by age 5, so until that age they don’t think action is necessary. However after bringing this up with Dr Nesterova she explained that for children with cystinosis the problem may not correct itself and could get worse as they age and gain weight. Then she referred Elsie for some physiotherapy and wants them to assess whether orthotics are needed to help keep her ankles from turning in. Finally, progress!

For the past few years Dr Nesterova has been assisting Dr William Gahl at the National Institutes of Health (NIH) in Maryland, USA in his Natural History Study of the Use of Cysteamine in the Treatment of Cystinosis and I’ve been wanting to take Elsie there since I first heard of it. Many people throughout America visit the NIH every couple years to take part in this study, which includes extensive testing and review from one of the top doctors in the field of cystinosis. But, living in Canada, I didn’t think it would be something we could participate in. However when I mentioned it to Dr Nesterova she said it would be no problem for us to participate and that we would just have to cover our travel costs! I was given the contact for the study coordinator and I’m hoping to bring Elsie there sometime in the Spring or Summer this year.

With the prospect of having experts in the field to ask questions from and get a real sense of just how healthy Elsie might be I’ve found myself looking to the year ahead with a lot of hope. Every year since Elsie’s diagnosis I’ve felt like we’ve gained more and more control of cystinosis. Instead of it running our lives it now feels like just a part of a our lives, and a manageable one at that. Sometimes I worry that this is just the eye of the storm and in a few years we’ll be thrown back into the chaos with something like her kidneys starting to fail, or maybe her thyroid will start having problems but for now I’m choosing to put all that fear aside and just live in this peaceful moment of health.

Her first check up at the renal clinic this year went fairly well but we have had to add some new medications to the mix. Her red blood cell count has started to drop so they’ve added a multivitamin called Renavite to try bring the count back up. They’ve also added an iron supplement called Euro-Fer and a half tab of Tums to add some calcium that she’s probably missing from her diet. At 15.53 kg she is sticking to her growth curve at the 26th percentile for weight and at 103 cm tall she’s in the 44th percentile for height which I think is awesome! All in all I feel like we’re in a good space at the start of 2017.

With the new additions to her medications I thought it’d be nice to post her medication schedule again:

1:30am – Cystagon 300mg

7:30am – Cystagon 300mg 

With Breakfast

  • Sodium Phosphate – 1.5ml
  • Potassium Citrate – 7.5ml
  • Spironolactone – 2ml
  • Carnitor – 2.5ml
  • Vitamin D Drop – 1

With Lunch

  • Potassium Citrate – 7.5 ml
  • Carintor – 2.5ml
  • Tums – ½ a tablet

1:30pm – Cystagon 300mg


  • Potassium Citrate – 7.5ml
  • Renavite – ½ a tablet
  • Euro-Fer – 2ml

With Dinner

  • Sodium Phosphate – 1.5ml
  • Potassium Citrate – 7.5ml
  • Spironolactone – 2ml
  • Carnitor – 2.5ml
  • Enalapril – 2ml
  • Vitamin D Drop – 1

7:30pm – Cystagon 300mg

At Bedtime – Growth Horomone

Eye drops – 6x/day: every two hours

Elsie has started to express an interest in learning how to swallow pills so hopefully soon we will finally get our act together and start teaching her how. It would if she could swallow pills when she starts Kindergarten in September. That way we won’t need to worry about medications needing to be refrigerated and things like that. When we do start the process I found this article from The Pursuit of Research with tips on how to teach your child to swallow pills which I think will be invaluable. And while I can’t believe my little girl will be starting school so soon, that I think is another post entirely!

All in all I’m looking forward to the rest of 2017. We hope to attend one of the cystinosis conferences this year as a family as I would love to meet and talk with some of the wonderful families we’ve met online and I think Elsie would love meeting and making friends with their beautiful children. So here’s hoping that 2017 meets up with my expectations.

Dealing With Insurance


Dealing with Insurance Coverage

When it came to getting our insurance company to cover all of Elsie’s medications it was pretty much a nightmare. And it seems to be that way for a lot of cystinosis families, due to the rareness of the disease and it’s medications. After a couple months our insurance did finally cover all of her medications including her Pediasure, which is practically unheard of so I wanted to share our experience in the hopes that it will help others in a similar situation.

First of all talking to the people at their call centre was a complete waste of time. When I first called to see if her meds were covered all they would say was they were not covered under our plan. When I asked what about her medically necessary, life sustaining medications were not coverable they repeated they just weren’t covered under the plan. That was it. The only advice they had on how to proceed was to write a letter requesting them to re-assess our coverage.

So after speaking with our doctor and social worker at the renal clinic they offered to write a letter to our insurance company. We got two letters, one from our nephrologist stating why Cystagon and the cysteamine eye drops were medically necessary, and one from our dietician stating why Pediasure was critical to her overall health. The one from our dietician was pretty harsh even stating that without proper nutrition Elsie could die but they said that in their experience strong language was needed to get their attention and really drive home how important the Pediasure is. I put together a package with these letters, a cover letter stating what we knew would happen to Elsie without her medications and some facts about cystinosis and it’s treatment pulled from the Cystinosis Research Foundation’s website and sent it off to our insurance company.

A couple weeks later we got a letter back saying that although they were not questioning the validity of her disease and medications they could not be covered under our plan. I was furious! How could they say they understood how serious and important her medications were but still not cover them? I was sure that if Elsie needed certain medications to survive then they must be obligated to cover them but sadly I found out this is not the case. Insurance companies are in the business of making money and if they choose not to insure specific medications it is completely up to their discretion. How frightening is that?!

So I scoured through the benefit package that Dave received looking for anything that would indicate why her drugs would not be covered under our plan. All I could find were statements as to why they should be covered, such as the medications were necessary for the treatment of her disease and there were no generic alternatives. So again I called the call centre to argue my point and was told the same frustrating answer, they’re just not covered under our plan. But at least I was told that I should speak with Dave’s HR department for further clarification.

I sent off an email to the HR representative explaining our situation, what had transpired so far, and attached everything that had been sent to the insurance company and their reply letter. I stated that we were extremely anxious to get coverage for our little girl and would be willing to provide anything needed and even pay a higher premium if there was a more expensive plan that would cover her drugs. Finally it was in the hands of someone that actually gave a damn. First the HR rep enquired with BC Fair PharmaCare to see if her medications went towards our deductible.

In BC there is a program called Fair PharmaCare which all households need to apply for, you’re not just automatically enrolled. What they do is give you a deductible based on your family income that resets at the beginning of each year. Once you reach this deductible they will cover 70% of your medications until you reach your maximum (also determined by your income) and then they will cover 100%. This is to ensure that the cost of your families medications won’t bankrupt you. As an example our deductible is $1400 and our max is $1878, it’s now mid June and we have already reached our max level for the year. So for the rest of the year all of our medications will be covered 100% by Fair PharmaCare. Here’s the kicker though, not all medications are approved under this plan. In order to have Elsie’s medications covered our doctors had to apply to Health Canada to request a special authorization to bring her medications into the country and have them covered our provincial health plan. Due to the rareness of cystinosis, Cystagon is not available in Canada nor FDA approved. And her cysteamine eye drops are made specially for her by the hospital pharmacy, apparently they need to be made in the same sterile environment that they make IV’s.

Back to obtaining coverage, we informed the HR rep that Elsie’s medications were in fact covered under Fair PharmaCare because special authorization was applied to and granted by Health Canada. We asked our social worker if she could send us the paperwork which proved this was the case and she gladly forwarded it along. We then sent it to the HR rep who forwarded it on to their claims manager at the insurance company and awaited a response with bated breaths. We were worried because we only had special authorization paperwork for Cystagon as the eye drops were made just for Elsie at the pharmacy. We had already assumed that the Pediasure would not be covered as I did find it stated in Dave’s benefit package that infant formula would not be covered but due to the large volume Elsie needs to consume this is one of our highest expenses so I still wanted to push for it.

Lo and behold about a week later we received an email for the claims manager that Cystagon, the cysteamine eye drops and Pediasure were all going to be covered! It was incredible the sense of relief and lightness I felt with that email. After all our battles and frustrations the outcome was better than we had hoped. The whole process took about 3 months and coverage has only been approved until November 2014 as that’s how long Heath Canada approved her meds for but I’m very optimistic that they will be covered again.

After that getting her Omeprazole and growth hormones covered was easy, we just needed to supply the special authorization approval letter to our claims manager and they were both approved. I should mention that in between Elsie starting her meds and approval from the insurance company Variety Children’s Charity gave us a grant to fully cover her meds until we reached our Fair PharmaCare deductible. Without their support we would’ve had to rely on the financial assistance of our parents but we hated to ask them for it. Variety does amazing work for families and children in need so if you have a moment to donate to this worthy cause it would be greatly appreciated. One could argue that we didn’t need to fight with our insurance company if we already had this grant but I was determined to make our insurance pay for her meds as that’s the whole reason for insurance! And I wanted to free up the grant money to other families, like us, in need who may not have been as lucky as us in ensuring coverage.