The Year Ahead

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

5pm

  • 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.

Tips For Keeping Your Child Cool in the Heat

Tips for Keeping Your Child Cool

A lot of people with cystinosis struggle with thermoregulation; the ability to regulate body temperature. The cause of this is not entirely known. As with most symptoms related to cystinosis, some people experience them and others don’t. A lot of parents have noted that their child doesn’t seem able to sweat, while others state that their child definitely does!

When I was looking into one of Elsie’s CTNS gene mutations, the 57 kb deletion, I found this research report,  The 57 kb deletion in cystinosis patients extends into TRPV1, which stated that the 57 kb deletion not only knocked out the CTNS gene but also extended into the neighbouring TRPV1 gene. It states that the “TRPV1 plays a regulatory role in a number of physiological processes including thermoregulation,” but as far as I can tell no one has investigated this further.

Whatever the reason, we have definitely noticed thermoregulation becoming an issue for Elsie.  Every year it seems to be more difficult for her, whether that’s because she’s getting bigger or just more vocal I’m not sure, but I do know that she is not pleasant to be around when she overheats. Not that a I blame her, being too hot is awful. Living in the Pacific Northwest means we don’t have to deal with it for very long, which is nice but can also be difficult because we don’t have air conditioning in our place and just got the AC fixed in our car last week.

Sometimes we need to get creative and today I wanted to share some of my tips that have made life in the heat a little bit easier for us. I also turned to the cystinosis community for their “insider” tips and found some pretty cool products I hadn’t known about.

  1. Hydrate – Dehydration is a big issue when the heat is on, so making sure our kids are properly hydrated is more important than ever. Elsie is super picky when it comes to her water and can be heard demanding “ice cold” water frequently. We’ve been using the Cool Gear water bottles that have a core you can take out and keep in the freezer when not in use. I found ours at Walmart. Other parents said they used a CamelBak Pack filled with ice and water, a Mist ‘N Sip from O2COOL, and the good ‘ol water bottle that’s been half-filled and placed in the freezer (the key is to leave it on it’s side).
  2. Appropriate Clothing and Accessories – This point we are not so good at. Mostly because Elsie is at that age where she knows what she wants to wear and won’t accept any substitutes. But when I can I try to steer her towards light weight clothing in light colours. A light weight, breathable hat with a good sized rim to keep the sun off their faces will also help but again this is a struggle for us. On the flip side at least Elsie knows what she wants! So I settle for sunglasses and make sure to either put her hair up or in braids so that it’s off her neck.
  3. Sunscreen – This is a bit of a no brainier but important to include none the less. Like Elsie, a lot of people with cystinosis tend to have fair skin and it’s super important to use a high SPF sunscreen and apply regularly throughout the day. Luckily Elsie’s never had a sunburn but I suspect she’s just like her fair skinned dad who burns really fast and really bad.
  4. Stay in the Shade – Whenever possible try to hang out in the shade. We have a 3 sided beach tent that we set up on hot days, this way we can create our own if we can’t find any. The one we have is actually a huge pain to set up so I don’t have a specific type to recommend, however I can recommend that you check out some online reviews before purchasing. You could also use a large golf umbrella which would at least provide enough shade for your child. Or if you have chairs and a beach towel you could hang the towel between two chairs, but this would probably only provide shade for a baby. We used to do that for my family dog, a tiny Bichon Poodle!
  5. Cooling Towels – This I never considered until asking the cystinosis community and it was been one of the best tips ever. Sports and golf stores carry cooling towels that you soak with water, wring them out and then snap to activate. You then place it around your kid’s neck or wherever else they want it. We got ours, the Mission Enduracool, from SportChek just in the quick grab section near the check out tills. A few parents have recommended the Frogg Togg Chilly Pad and the Ergodyne Chill-Its. My only tip is that we were given a knock off version that had the similar foamy pocket surface like the Frogg Toggs and Ergodyne but when it dried it was stiff as a board and we couldn’t roll it back up to put in the plastic carrying case. So one day we rolled it up and put it in it’s case while still damp and the next time we went to use it, it was completely moldy! It was disgusting, so I’d recommend sticking to towel brands that have good reviews.
  6. Other Cooling Accessories – Other little items you can bring with you that are super helpful are spray bottles and fans, or both combined! I saw a spray bottle with a battery operated fan attached to the nozzle at Michaels the other week and am now kicking myself that I didn’t buy it. But you can also get spray bottles and usually little hand held fans from any Dollar Store. The key is to look for a spray bottle you can set to mist. We actually got Elsie a little Frozen hand held fan from Toys R Us and they even had ones attached to tubes of candy.
    Ways to Keep Cool - Water Play
  7. Water Play – Look for ways that your kids can play with water. Earlier this summer we had one of our best afternoons just playing with a hose, a $2 mini pool and some Tupperware containers in the courtyard. You could also take your kids to a water park, splash pad or outdoor pool. Or play with water guns, slip n slides, water play tables, water balloons, sprinklers, fill a big bucket full of water, or anything else you can think of. Water play doesn’t have to be an expensive outing and most kids love playing with water! Even just a cool bath on a hot day can work wonders.
  8. Keep Your Car Cool – If you’re like we used to be and don’t have air conditioning in your car there are still little things you can do to try keep the internal temperature down. We always try to park in the shade and usually leave a couple windows slightly cracked open. We have roller shades in both back passenger windows to block out the sun for the kids and when we park we put a reflective car shade in the windshield and another one over Elsie’s car seat so that the buckles and straps aren’t blistering hot when she gets in. I saw a post on Facebook where a woman put an ice pack in a Ziploc bag and buckled it into the car seat to keep the buckles cool. It’d be a useful way to use the ice packs we get from all the medication shipments! Another parent said they used a car fan that you could plug into the cigarette lighter, which she put between the front seats so that more air made it to the back, and after checking out car fans on Amazon.ca I can see there’s some pretty cool products out there.
  9. Keep Their Bedroom Cool – Elsie gets really hot when she sleeps and usually she has all the covers pushed aside when we come to give her cystagon at 1:30am. Last summer we installed a ceiling fan in her room and we also use a portable fan pointed towards the bed to help keep her cool. One mom in the cystinosis community has been struggling with keeping her daughter cool during the night and found two pretty cool products, a Gel Cool Pillow and a Bed Fan. We haven’t tried either yet but they are top of the list if Elsie gets too hot. I’ve also seen these Thermal Aid stuffed animals advertised, which can be used as heating and cooling pads for kids to snuggle with. And one of the best tips is to use natural fiber sheets, like cotton. They will breathe the best and wick moisture away.

Of course my favourite way to stay cool in the heat is to head to 7-Eleven and get a slurpee! But for children, water is always best (okay who am I kidding, that’s true for adults too) and my kids are too young to be drinking slurpees anyway.

I hope that you find some of these tips useful and I would love to hear any tips that others may have, so if you know of a cool product or even a super obvious tip that I missed please leave it below in the comments.

Stay cool everybody!

Beads of Courage and Bravery Buddies

Beads of Courage

As much as I try to shine a positive light on living with cystinosis and strive to treat Elsie like any other little girl, there is no denying that cystinosis can be heavy. She has a lot of responsibility pressing on her little shoulders and a lot of unpleasant experiences to endure. I’ve spent more than a few late nights worrying about how all of this is going to affect her as she gets older. More than anything I want Elsie to understand that she must take care of her body and stay compliant with her medications, while at the same time not feel burdened by them. She should be proud of her fortitude and resilience.

So when I learned about the Beads of Courage program, I was ecstatic. Beads of Courage is an arts-in-medicine program in hospitals across Canada, USA, Japan, New Zealand and the UK that help children with serious illness record, tell and own their story of courage through beads. Children are given different coloured beads for every procedure, scan, poke, etc, they do which allows them to share their stories with others and take pride in all they have overcome. Below is a great video explaining what the program is.

Did you get through that without tearing up? I made it until we met Scott and then lost it. Such a courageous young man ❤

I was so excited to sign Elsie up but when I went to the participating hospitals link, I found that BC Children’s Hospital, was not listed. Luckily they also have a Beads in the Mail program and I quickly applied for Elsie to be a part of it (note: if you are in Canada, like us, you need to apply on the Beads of Courage Canada site). We heard back quickly and I was sent a link to send in my request for beads! To start with they send you a length of string, white block beads spelling the child’s name and one bead for each category you request to signify treatments completed before enrolling in the program. Elsie was so excited to get her beads and repeatedly asked me when they were coming.

Elsie's Beads of Courage

I think they took about 3 weeks or so to arrive and when they did she was not disappointed. We went through all the colours, I told her what each one meant and she got to string the beads herself. She wore them around her neck for 2 days straight. Now whenever someone asks to see them she’s always so happy to pull them out and ask me what the different colours mean so she can tell them her story. I think her favourite one is the glow in the dark bead (it’s mine too, because glow in the dark man!).

I’d say the only draw back to the beads in the mail program is having to wait for the beads. I keep meaning to write them and ask if I can pre-order the beads when I know that appointments and blood draws are coming up. One of the goals of the in hospital program is to strengthen the relationship between the child and their healthcare team as they are the ones who present the beads in acknowledgement of what the child just bravely went through. So if I had the beads ahead of time, Elsie could also experience that part of the program.

In addition, they also have a sibling program and I plan to enroll Linden when he gets a bit older and stops putting everything in his mouth. Already he’s always trying to get his hands on Elsie’s meds and you can see how much he wants to be just like his big sister.

If you’ve never heard of Beads of Courage please take some time to check out their website. This is one of those organizations that I recommend everyone look into. If you don’t have a child with a medical condition, they are always looking for donations and they are making an incredible impact in so many children’s lives.

Not even two weeks after I’d ordered Elsie’s first set of beads I also discovered an amazing shop called, Bravery Buddies. A mother of two boys with cystinosis had shared the story of Bravery Buddies on Facebook as she was friends with the woman behind the stuffies. Her name is Leslie and she originally created some buddies for her three triplet sons who were each diagnosed with retinoblastoma. She wanted something they could cuddle with during their pre and post op recovery from the many surgeries they had and also something that could display the Beads of Courage they received during their treatments. The buddies have mouths you feed the beads into so they can be displayed in the clear pouch of their tummy.

After her three boys cancer became more stable she wanted to give back and help support other children going through their own medical journeys and Bravery Buddies was born. She uses Bravery Buddies Facebook page to spotlight these courageous children and each one receives a free buddy. If people would not like their children to be spotlighted or want to help financially support the stuffies they can purchase a Bravery Buddy on her Etsy page as all money made through the site is used to create more buddies.

Bravery Buddies

As you can see in the picture above Elsie loves her buddy, whom she has named “Pinky.” And as a fun bonus Pinky’s ears and legs were made by me! Leslie had posted that she was always looking for people to help make pieces of the buddies or even just donate fabric and I had a ton of fabric left over from various projects. The ears are from Linden’s first Halloween costume and the legs are left over from a cowl that I made Elsie, one of the first things I ever sewed on my new machine. I was so happy to be able to contribute and sent along a few sets of faces, ears and legs. Those little personal contributions make Pinky that much more special to me and Elsie.

If you have extra fabric on hand and maybe even some extra time please consider donating to Bravery Buddies. I can’t think of a better way to use fabric scraps.

It’s difficult to watch your child go through so many hardships and feel like you can’t do anything for them. Thankfully there are programs out there like Beads of Courage and Bravery Buddies that help parents like me do everything they can to empower their child and show them just how incredible they are. Elsie is the bravest person I know and I hope that she knows just how courageous she truly is.

I Hope He Knows

I Hope He Knows

The alarm goes off at 7:20am. I have 10 minutes before my three year old needs her medicine. I hate waking her up for meds, I  wish she could sleep as long as she needs. Before I can dwell on this I hear my 10 month old son start to cry, time to get up.

He greets me with the most beautiful smile and a laugh that seems to say “Oh hey, there you are. Did you know I was calling for you?” My heart melts. Time is running out and I can’t feed him immediately so I pick him up, grab the meds and head to my daughters room. He starts crying and squirming in my arms, trying to find his favourite food source. Poor guy, I wish I could instantly ease his hunger instead of prolonging it. I hope he knows how much I love him.

I sit beside her on the bed and cradle him in my arms. Finally he’s able to nurse. Gently I try to wake my daughter, but she is not in the mood. Thrashing and whining that she doesn’t want to take her medicine. I don’t blame her, it tastes foul and makes her nauseous. But, I remind her, it keeps her healthy so she can continue to run around and play with her friends. She doesn’t care, she’s three after all, long term advantages don’t mean much.

She’s getting worked up, kicking and hitting the wall, her bed, me and her brother. I have to stop him mid feed, put him on the floor for safety and then try to calm his sister. My sons cries fill the room, protesting that he wants more. My heart aches for his struggle but his sister needs some support right now. She needs to calm down and take her time sensitive medication.

After she’s relaxed a bit and taken her meds I immediately pick my son up and continue to nurse. He makes adorable little sounds, sighs of contentment that he’s finally back where he wants to be, snuggled with mom and eating, his happy place. I stroke his face and hair softly then put my forefinger in the palm of his hand so he can grab on. I gently rub my thumb over the back of his hand.

Suddenly my daughter gives a cough. Not a clearing her throat or fighting a cold cough but an, “I might get sick,” cough. After two years of living with cystinosis and taking awful medicine, I know that cough well. I desperately hope that she can hold off at least until her body has had enough time to absorb the meds.

We go downstairs and I ask my daughter to lie on the couch and watch tv. If she stays still and doesn’t get worked up there’s a chance she won’t get sick. If she’ll eat some food that’s even better. I let my son down and off he goes, patrolling the area for anything he can get his hands on, the more off limits the better. Then he’s pulling himself up on the couch trying to grab and play with his sister. My happy, busy little boy.

In the kitchen while making breakfast I watch them through the pass through. My daughter’s feet dangling off the couch. My son standing at the patio door, leaning against the glass and smacking his chubby little hands against it. Occasionally he presses his face to the glass, just for a taste, laughing to himself afterwards. It must be nice to be amused by everything.

Despite the rocky start to the morning his laughter and good mood are infectious. He gives me a sense of calm and happiness, despite my worries for the nauseous little girl on the couch. I hope he knows how much that means to me.

I let my daughter eat her eggs, 1 of only 10 or so foods she will consent to eat, on the couch. Anything I can do to keep her from getting sick. My son goes in the high chair for some baby mush the package says is oatmeal. He lunges for the spoon immediately and continuously between every bite, like he just can’t get enough. The difference in appetite between my children is almost comical. As I look over to see my daughter pick the tiniest piece of egg she can find and very slowly chew, it’s comforting to know that at least my son has a rich and varied diet. Maybe I’m not a total failure.

Seconds after taking my son out of the high chair, my daughter suddenly sprints into the kitchen, hands tightly clasped over her mouth. My heart sinks as I realize that all our efforts have been in vain. Leaving him hastily on the ground I go after her and find a bowl to place on the floor. I hold her hair away from her tiny face and gently rub her back while she looses the little amount of food she’d eaten. At least it’s been well over 30 minutes since she had her meds. I won’t have to administer them again.

Tired of being left to his own devices, my son chooses this very moment to need me too. He’s crying and leaning into me, grabbing and clutching to try make it clear that he wants up now. If only I could comfort both of my children together, but she’s still sick and getting upset that her brother is literally stepping over her to get to me. I hope he knows how much I want to comfort him as well.

Afterwards she starts to feels much better so I’m able to pick up my son and we all sit together and watch some more tv. He’s able to be close to me while he plays and she’s able to lie close to me while she gets some rest. Later, when it’s just me and my son in his room, I rock him in my arms and sing to him before nap time. Today I hold him a little bit closer, smell his hair and try to commit this moment to memory. My beautiful, squishy baby boy, leaning his head into my chest. So full of curiosity and laughter. Easy going and loving.

I worry that he feels left out when my daughter needs some extra attention. Maybe he doesn’t realize just how special he is. Special to me, to his dad and especially to his sister. I’ll never be able to fully articulate the kind of joy and wonder that he’s brought to this family. I hope he knows how important that is, how important he is, and how much his family loves him, now and forever.

I Hope He Knows

Advice I Have For Parents New To Cystinosis

Shortly after Elsie was diagnosed with cystinosis I was lying awake in bed one night, my mind full of thoughts and me desperately trying to silence them, when an idea popped into my head. Maybe I should start a blog. I felt scared, alone and broken and hated the idea of anyone else feeling this way. There were so many questions I had and so many unknowns in Elsie’s future and I knew that 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. Though 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 sharing our struggles and triumphs publicly remained my desire to help others. Namely parents who would join our community after me. To think that I might be making the darkest 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.

Most of what I want to share is sort of sprinkled throughout each post and not many people have time to read them all 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 this whole adventure.

Advice for parents new to cystinosis

 

  1. Your journey is not the same as your child’s: Many say that cystinosis is often times harder on the parents than their children, I hope very much that this is true. In the beginning I was so angry that this was happening to my daughter, why couldn’t it be me to take all the pain? Someone so young and innocent did not deserve it. But right now I am the one who’s keenly aware of the injustice. I am 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. Elsie however is happy and mostly care free. She doesn’t know any different nor does she lament it. She has the same childhood as any other kid with a few more added inconveniences but, at least for the moment, the fear and the heartache are all mine. I am in no way, shape or form trying to say that the parents have it harder, just that you are both hurting in different ways and I for one find comfort in knowing that I am at least taking the brunt of the emotional pain for Elsie.
  1. 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 will be amazed at the strength and courage such a little person can possess and everyday will provide another opportunity to remain in awe of your child. This will 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 has been the amazing and supportive community of parents, caregivers and adults with cystinosis. They ease my fears, answer my questions and give me hope.
  1. Be mindful about what you share: This is not 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 Elsie. It was minutes after her ng tube was inserted as she lay there, 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 Elsie 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?
  1. 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 and a sibling for Elsie 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 Elsie long term. Was it the kind of life we wanted to give another child? Could we handle the guilt of knowing we’d given cystinosis to them if it happened? Since accidentally getting pregnant and having Linden 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 his Cystagon would be ready for him to take on day 1. So I had amniocentesis done to test the fetus’ DNA but it came with a 1 in 200 risk of miscarriage. Everything went well during the procedure but that night I had a fair amount of 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 okay. And I realized that 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.
  1. 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 that they are today. There are many, 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 Elsie harm but on the flipside I also love her absolutely and wholly. Saying that I hate cystinosis is saying that I hate a part of her and that simply is not 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.
  1. Let them be kids: Most parents 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 that this tendency gets kicked up a notch after receiving a diagnosis. Elsie 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 is not 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 that 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 that you don’t agree with and that is completely fine. Cystinosis affects everyone differently and my views may not make sense for your family. If that’s the case I hope that this post has at least opened your eyes to another way of thinking but also trust in your instincts and know that you are 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 us in some support groups on Facebook. We are all here to help and answer any of your questions.

Last year I also wrote a letter to newly diagnosed parents for The Love Letter Project, you can read it here.

She Just Keeps Growing!

Growing
Nothing can hold this girl back! We recently had our quarterly check up at the renal clinic and Elsie is doing well and growing like a weed. She is now in the 24th percentile for weight and 31st percentile for height which is just so amazing to hear. Take that cystinosis!

Right around this time two years ago our world crumbled when we learned our little girl had a rare, chronic disease that we had never heard of. The heartache and fear we felt in those first few months is still fresh in my mind and raw in my heart. To have come so far in a relatively short period of time is just incredible. When Elsie was diagnosed she wasn’t even on the charts for weight and height, so to know that our struggles to get food and basic nutrition into her have not been in vain is so rewarding.

I feel like our decision to forego a g-tube and instead start her on growth hormone shots at such an early age has also been validated. Though Dave and I both decided and still believe that this decision was/is the best for our family I have to admit that it is one I have second guessed quite a bit. Especially when we are still having to pin down and force the shots on a screaming and distressed Elsie. It’s not something that any of us enjoy, but to know that it’s been working has been nice. Our nephrologist mentioned that once she hits the 50th percentile he will recommend that we take a break and hopefully she will be able to keep up with these curves on her own. And who knows, the way she’s been growing lately I think she could do it!

Her potassium is still on the low side and we have increased the frequency to 4 times a day but it doesn’t seem to be helping much. A few months ago she did a couple blood tests, once just before her first dose of potassium and another one 2 hours later and the later one was actually slightly lower than the first! I forgot to ask our nephrologist what that meant but he didn’t seem to be too concerned and our nurse said through email that he thought this was a typical result for cystinosis patients. So for now we are leaving her potassium as is and just monitoring. I’d like to start trying to introduce her to more potassium rich foods and see if we can get her interested in any of them. I found this great list online about potassium rich foods online a while back so it looks like beans is the one to try first. If anyone has any yummy bean recipes (the saltier the better) please send them my way!

So now we are just waiting to get the results of her latest WBC cystine test back but we’ve got our fingers crossed that it will finally be below 1 again. Her cystagon was just increased to 250mg four times a day solely based on her new height and weight but she has been getting sick again most mornings and even some evenings so we may need to go back to 225mg. Ideally I would like to know what her WBC cystine level is first but we will probably not receive those results for another month and I think we should decide sooner than that. It’s so hard to watch your child throw up every morning, especially when we’re trying so hard to get food and pediasure into her. Hopefully this nausea will turn around soon, but until then at least everything else is going great for her!

She Just Keeps Growing

A Loving Tribute

A Loving Tribute

Tonight the cystinosis community is paying tribute to three young adults who passed away this past week with a worldwide candle lighting ceremony. We’ve only been a part of this community for about two years but more losses have been felt than I expected for such a rare disease.

Although I have not known any of these families personally their loss has been deeply felt. As much as we try to keep hope first in our hearts, the reality is Elsie’s future is unknown. Cystinosis affects everyone so differently despite best efforts or little effort.

Families and friends work hard every day to raise awareness and fundraise to give those with cystinosis the future they deserve. Better treatments and a cure are on the horizon but financial support is needed. Every little bit counts and everyone in the cystinosis community extends their love to those that help them fight this disease. If you would like to give please go to www.cystinosis.ca/give.

Our hearts go out to all families who have lost their loved ones to sickness and disease.