Nadia's Quest

Dear Donors

Where do I begin?  What do I say? What do I do? I remember when when Nadia’s medical team talked about the timeline leading up to transplant then the timeline for post transplant. There were all of these countdowns and count ups. Day 0 is transplant day, Day +15 is usually when you start to see blood counts move, day +30 we check to see if the donor cells are the ones that are doing all the work, day +100 you might be able to go back home. Then 1 year post transplant you can start getting immunizations again, etc etc up to the coveted 5 year post-transplant. I never thought we would get here. 5 years seemed so far, and there was so much that could go wrong between Day 0 and Year 5. Donor rejection, slow engraftment, and the dreaded GVHD (this one still haunts me). Somehow your cells were a perfect fit for Nadia even if on genetic paper they weren’t. They took their time at first, but once they came in, they took off like a rocket and haven’t slowed Nadia down.

I have daydreamed since the day Nadia had her stem cell transplant about what WOULD I say if I ever had the chance to meet you. And after 5 years I still have no words. I usually find myself doing the ugly cry and using my sleeve as a Kleenex when I try and put into words what you have done for Nadia.

First you gave Nadia a chance. Because of Nadia’s mixed background you were the closest thing to that coveted perfect match that everyone in Nadia’s position prays for. Thank-you

Second, you gave her life. You and the 22 blood donors that donated selflessly to save a stranger, a little girl. You kept her going during those 40+ days in isolation in hospital. You are the reason she is here. Thank-you

Third, you allowed Nadia to continue to have a childhood. Nadia has been able run and play, learn to ride a bike, swim, do back flips, downhill skiing and just be a kid. Thank-you

Fourth, you let our family continue to be a family. You allowed us to be parents to this special girl that has a heart so big and full. You let us continue to love her, guide her, and teach her. Mostly you let her teach us how to be patient, to be car- free and that its ok to make mistakes. You gave us morning snuggle buggles, story time, UNO games and so much more.  Thank-you

Fifth, you gave her the opportunity to be a big sister. When Nadia was diagnosed, having more kids were off the table. We needed to focus on Nadia, her health and healing. Deciding to have more kids knowing that Nadia’s health can spiral due to other aspects of this disease was a hard decision. But adding to our family and witnessing Nadia with her brother has been such a wonderful thing. She is an amazing big sister. To see her so interested in her annoying little brother, how gentle, kind, and watchful she is of him. She is also bossy, and at times knows just how to push his little buttons. It’s such a joy to watch. Thank-you

I don’t know if you were told that the cord blood you donated was being used. We probably will never know, but I am sure if we ever did get a chance to meet you I would just hug you, cry and snot all over your shoulder, and through my hyperventilating tears and sobs of gratitude I hope I would be able to squeak out a thank-you.

For anyone coming across this post, who have donated their blood, bone marrow, or cord blood and haven’t had the opportunity to meet their recipient – this post is for you. Thank-you! You let a family like us hit the restart button on a situation that was so overwhelmingly hopeless and gave us hope and so much more.

If you know someone between the ages of 17 and 35 please encourage them to sign up for the bone marrow registry. If you know of anyone who is willing to donate their cord blood for the stem cell registry, please encourage them to sign up at www.blood.ca  

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9 platelet transfusions, 13 red blood cell transfusions, 50 mls of cord blood has given us, 4 years= 1,460 days =35,040 hours =2,102,400 minutes =126, 144,000 seconds = 147,168,000 heartbeats more with Nadia #thankyoudonors

Take those numbers in, breathe them in, try and comprehend that. That is how much time more we have been given because of some mommy decided to donate her baby’s cord blood to save Nadia’s life. We are reminded everyday how lucky we are of this, but when you break it down like that, it brings me to an emotional mess. It reminds me of how close we were to not having this time with Nadia. It is obviously something we don’t dwell on, but keep close to our heart because we know of so many that have not been this lucky.

We didn’t post an update last year, I had one written and ready to go, I just remember reading and thinking man this is long and does anyone even really care? So we didn’t post one, however I remembered when Nadia was first diagnosed in 2013 I was desperately searching for blogs with updates on their children post transplant and with this disease to see how they were doing, and a lot of them kinda trailed off after year 2. And that is fine, life gets busy with life, and trying to be as normal as you can with all that has happened. Plus it is overwhelming sharing information like this. I felt that I should keep posting as depressing and anxiety inducing as this disease is, I feel it’s important to share what is going on in our life with Nadia, as I know it will give a lot of newly diagnosed families a little bit of hope when grasping to find a ray of sunshine during the darkest times of their life.

Nadia has been doing really well these past 4 yrs post transplant (I honestly can’t believe it has been 4 GLORIOUS YEARS). Health wise (touchwood) she has been the poster child for a successful non-related cord blood transplant. We thank the universe for this every single day. EVERY-SINGLE-DAY!!!

Nadia goes to BC Children’s hospital once a year to see a slew of specialists. We noted last year that she started showing some reticulated skin pigmentation (makes her skin around her neck look lacy). There is nothing that can be done for it, but important to be notated in her chart as this is a common feature of DC however not all DCers get this. Nadia had a scope with ENT, the doctor was amazing and just so nice, they sprayed some ‘fairy dust’ AKA numbing spray down Nadia’s nose, and then stuck a scope with a camera on it down her nose and into her throat and we watched it on the big screen. (pass the popcorn, said no one EVER). The ENT doctor was looking for Leukoplakia, which is a pre-cancerous lesions that DCers may suffer from. It usually manifests on the tongue, or cheeks, but can show up in the area between the nose and throat, hence the scope down there. (even typing this gives me the heebee geebees and sets off my gag reflex) Nadia did really well, she didn’t freak out, she wasn’t “let’s do this, it sounds like so much fun” she let out a little eek then just took it like a champ. Honestly, when I think about what she puts up with and doesn’t freak out about she deserves a gold medal for it.

We met with Hematology and it was a great visit (I will call it a visit because it didn’t feel like an appointment at all). Our hematologist was pleased with all of her results, we chatted, and really just visited. Then he hit us with a bombshell – the was retiring, I nearly burst into sobs right there and then. All I can say is that he was and is an amazing doctor and more importantly an amazing person. He said in our meeting, I never went into medicine to have my name on papers or to be the head of this or that. I really just wanted to get to know my patients and be a good doctor. I wish more doctors were like this because he really was a great doctor. It is so special to have a doctor that listens, and more importantly will seek out opinions of other doctors if needed. In the world of rare disease, this is most important. Time and time again I see stories of families where their doctors just give up or think they know it all and meet your questions or hypothesis about ailments with a brick wall. Our hematologist was faced with 2 options for Nadia’s transplant, radiation or no radiation. He reached out to the 2 leading doctors for DC and took their advice and we are soooooo grateful for this.

Nadia became a big sister on August 3, 2017 to her little brother Magnus. She is in LOVE with him. She isn’t jealous, nor resentful, just full of love for him and it is beautiful to watch. I was the youngest of 4 kids so I have no concept of being selfless. So it amazes me to see her like this. HAHA! Magnus we can safely say is DC free. We had early genetic testing for chorionic villus sampling (CVS), which involved 2 trips to Vancouver, very full bladders, and me pretty much peeing my pants. But that’s a story for another time. We knew the chances of having another baby with DC was less than 5 percent but we wanted to be sure. My pregnancy this time around was completely different and it was a bit stressful as Nadia was born 6 weeks early, so naturally I had that scenario running through my head for the last trimester. So we had a few extra ultrasounds, I was sent for non-stress tests, and a visit to the high-risk clinic in Vancouver (trip 3) to make sure all was going well. Thankfully Magnus was born without a hiccup. He is a lovely baby that adores his big sister. There was a time after Nadia’s diagnosis and post transplant life that I thought ‘Nope not having another kid, I just want to focus on Nadia’. But I can see now that we as a family would have been missing out on sooo much, especially Nadia. She makes such a good big sister and Magnus is a lucky baby brother.

We lost our beloved dog Einstein just before Christmas, and it sent me into a bit of a tailspin. If you know me, I am a dog person. I love all dogs, like LOVE them. In fact before we got Einstein I would force Thor to take a walk with me through the big dog park by our house in Calgary just so I could see the dogs and pet them. Then I started to think that someone is gonna think it’s weird we are coming to a dog park with out a dog. HAHA. So Thor caved and we got Einstein. I think the reason it hit me so hard, is because Einstein was there from day one with us with Nadia, from her prematurity to her diagnosis. He was there with his waggy tail, wet nose and sloppy kisses, to just BE THERE. I haven’t had someone (and yes he was a someone to us) that close to me pass away, and it was hard. It brought up a lot of emotions about Nadia and how close we were to losing her. Upon Nadia’s initial diagnosis, when I was at home alone with Nadia, not being able to leave the house because of her weakened immune system, it was just me, Nadia and Einstein, while Thor was at work. While Nadia napped and I would find myself crying, Einstein would just come up to me and rest his head on my lap, and just BE THERE. It would force me to pet him, then his tail would wag and my heart would feel a little less heavy with the weight of the situation. The house feels so much emptier, there is a little less cosmic energy. I can understand now why people turn around a week later and get a new pet after losing theirs. I never understood it before, but I do now. He was a great dog, and taught me so much and I am a better person because of him. We were lucky to have had him in our lives.

Nadia and her daddy got season passes to one of the local ski hills and Nadia has become a regular ski bunny. She has even done a few blue runs. She is loving it, probably mostly spending time with her daddy. We have a family trip planned for Jamaica in March with Nadia’s aunts, uncles, Nanny and Poppa Raj and her cousins. Her cousins are what she is most excited about it. She is obsessed with them, and I realised why the other day. They were the only ones she could really play with post transplant. They are all older than her, and their parents were great at making sure their vaccines, flu shots were all up to date and the only kids I really trusted to be around Nadia for a long while post transplant.

During Nadia’s chemo prep 4 years ago, the Sochi Olympics were on and we watched them. Nadia wasn’t too interested in them, but Thor and I watched them when we could, it was a great distraction. It has been really great this time round watching a few more events with Nadia, who was more interested. The other night we watched the Women’s Ski Cross final. We had 2 Canadians in it, one of them a local. Nadia cheered and hoorayed the whole time, and at the end when Canada claimed the Gold and Silver, Nadia was soooo excited. I told her that the girl that got first was from Kelowna. Then Nadia pipped up and said, “I want to do that”. And of course my response to her was ,well now that you have platelets you sure can!!! So thank-you donor, wherever you are, you have given life to two humans, and perhaps a future Olympian!!

P.S if you know someone between the ages of 17 and 35 please encourage them to sign up for the bone marrow registry, they have the possibility of saving a life at www.blood.ca. If you are too old to register, then consider donating your blood.

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TWO years post-transplant. We have made another milestone in the post BMT world. Can I get a whoop whoop?!?!?

TWO years post-transplant!  I have been saying this quietly to myself for the last month, I feel like if I say it out loud I will wake up in the beginning of it all. When it felt like there was no light, when I couldn’t breathe because it hurt, or couldn’t eat because I was so sick with worry, or when I walked around for the 5 months before transplant like a zombie, or not blinking for fear the tears would start and never stop or, or, or, or……..I could go on, but I won’t. Those feelings still come and visit every now and then, not as heavy and not as often, but they are there. I think I am ok with that, it keeps me in check, and reminds that things could and probably will change for Nadia’s health, down the road.  My mom always said to me and my siblings growing up ‘accentuate the positive’ and I have always tried to live my life like that. When I start to go down that path of despair with all of the ‘what ifs’ that Nadia MAY endure, I can hear my mom saying that in her shrill Irish accent. I should really record her saying that and get it put into a one of those teddy’s and press it when I need to.  HA!

Nadia has been doing so well.  I think our last blog post was in May, eeeep sorry!  It just means things have been going really well is all. 😉 We had a great summer, fall and Christmas.  We had a bunch of follow-up appointments with Hematology at the beginning of December. They were VERY happy with her progress. Our hematologist actually got confused and thought she was much further along post-transplant and was wondering why her Mumps protection was non-existent.  Thor had to remind him Nadia isn’t due her MMR (mumps, measles and rubella) re-vaccinations until fall 2016.  Did I mention how much I love this doctor? You never feel overwhelmed when he talks to you, and he is so calm, that it just forces you to feel calm as well.  So when he said that about her Mumps protection, I had this feeling of calm, not annoyance because he got confused, and just happy that he thought she was further along than she was.

Nadia also forced him during our appointment, and the rest of team BMT to play bouncy ball in the examination room. They all obliged and it was super cute.  The best part of the appointment was that they said we wouldn’t need to see them again until December 2016, they didn’t feel the need to make us come back in February just because it was transplantiversary!  Whoohoo!

We had an appointment with respirology, and Nadia happened to have a cold and with every cold Nadia gets since transplant her cough gets VERY barky. So when this happens, my over-thinking mommy brain goes straight to thinking it is Pulmonary Fibrosis (PF).  Our respirologist, sent Nadia for x-rays, we didn’t have any lung x-rays post-transplant. So we needed to get a baseline for Nadia anyway.  Thankfully her lungs were clear, showing no signs of PF. Unfortunately the only way to truly test for PF is a pulmonary function test, and Nadia needs to be a few years older for that one as it involves blowing into a machine for as long as she can and a bunch of other things.  Our respirologist explained to us a lot of kids post-transplant get barky coughs as their lungs are very fragile (pronounced the Italian way – just kidding) due to the chemo. So we got to leave with a parting gift of an inhaler. It has definitely helped her. She gets it 2 times a day and it has made a world of difference for her coughs.  Her coughs seem to clear up quicker and don’t sound so barky.  Nadia was quite busy in his office as he tried to listen to her lungs, she was all over the place. He looked up and said, ‘does she ever stop moving?’ we responded, ‘when she had a hemoglobin of 70 she didn’t stop moving.’   : P

This trip we were able to give a few of Nadia’s specialists a copy of the DC clinical guidelines. These were just published in late 2015 and our outreach group did an AMAZING job with them.  All of her specialists were VERY happy to see them, some of them even excited about them.  It is such a crazy disease that affects each patient differently, so these guidelines are great for doctors to refer to.  When we gave them copies, we included 2 Starbucks cards and a note asking them to have a coffee on us and take a moment to have a looky-loo, then pass the book to a student or colleague so they can have a look as well. As we have said before this disease can present with so many different things that the only way to really diagnose it is by genetic testing. So we feel if we can get it on a doctor’s radar, maybe if one of their patients presents with some symptoms, they will connect it with the disease. Historically DC patients have been sent down the wrong care-path with the wrong, or no, diagnosis, and the results can be devastating.

Nadia started pre-school in January and is loving it.  She is still being followed by child life development for speech and occupational therapy, and the coordinator got to observe her on her 2^nd day of preschool, and she phoned me that afternoon VERY excited. Saying she couldn’t wait to phone me, Nadia did great, and how overjoyed she felt when she watched Nadia in the class room (insert mommies ugly cry here). She told me that it was like Nadia had been there since September, she got right into playing with the kids, didn’t have any issues asking for anything. She said it was a joy to watch her.  Of course this made me feel relieved and happy, Nadia has always just wanted to be with her peers, and her isolation for 1.5 years had me feeling like she missed out, plus her speech is still delayed, so I was worried about how the kids would react to her.  She seems to be doing fine, though, so I can get rid of that worry.  I think when you are a parent, you don’t want your kid to have any struggles, just breeze through life and fit in. So when I hear things like that, it makes me feel so relieved and happy (is someone cutting onions?). We know Nadia’s life has not been a breeze, it has been a battle from the moment she was born and will continue to be one, but man does she make the battle look sooooooo easy.

On my Facebook page the other day, a memory came up from 2 yrs ago. It was from February 12, 2014, the night before Nadia was to be admitted and start her chemo regime.  I have a love/hate relationship with these memories, but it is great for looking back and seeing what I had posted during Nadia’s transplant time. This is part of what it said:

‘The only way I can describe what I am feeling is like what you feel the night before your first day of school or a new job. Anxiety, excitement, happy, sad, nervous, and the list goes on, your mind is racing and all you want is to look back on this moment and say, ‘why did I get my knickers in a twist? This isn’t so bad’ We know the road ahead is a long one, and one not to be rushed as much as we want to skip forward.’

I clearly remember feeling like this feeling would never go away and that there was no light at the end of the tunnel, we were in the dark and it was suffocating! Sure if Nadia made it through transplant, she still faced possible complications from the transplant AND definitely more complications from the disease.  It was a feeling I couldn’t get passed.  I think when you are faced with a complication in your life (and I don’t mean just dealing with a disease), weather it just involves you, a family member or your kid, it is all-consuming.  It jolts you out of how you think your life was going to go, you know that ‘easy road life’ you want for everyone in your life, where your biggest worry is that you carried a balance on your Visa bill.  Then something like this happens, and no matter how hard you try to look at the positives in your life, sometimes you just can’t, sometimes the ‘things could be worse’ statement, is not comforting at all, in fact it’s annoying.  Because in that moment, no matter what the situation is, this IS the ‘things could be worse’ situation, and you have become that family or person that is used as the example. I think that it is OK to feel like that, to feel that ‘boohoo why me’, it is part of how to heal yourself and you need to grieve the ‘easy road life’ you had pictured in your mind. Because that ‘easy road life’ has just shattered before you and you have NO idea how to put it back together, where to start, you are lost and when you realize that there is no point in putting the pieces back together to try and get back to that ‘easy road life’, you learn with time to accept that now you have to take a different road. Now looking back at that post, I can definitely see the light at the end of the tunnel, in fact we are shining in the light, bathing in it actually, with SPF 60 of course ;).

We are celebrating today with cake! Cake for breakfast, lunch, and supper!  LET HER EAT CAKE!!

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https://youtu.be/fTkQI25w19w

Well after the events of the last blog update we had a bit of excitement with Nadia. We decided at the last minute we would head to Calgary for visit for the last weekend of May. We hadn’t been back since Christmas and our daycare was on holidays for 2 days so we thought might as well. It is 7 hour drive to Calgary from Kelowna, that is a 7 hours non- stop without a toddler. With a toddler, it can range from the 9 hour mark and up. When we went home at Christmas our drive home was crazy, there was a horrific accident and then closed the highway down about 3 hours from home. We were stuck, we had to take a different route that included 2 ferries and some scary mountain roads, that trip took us over 14 hours to get home, we got home just as they were reopening the highway. We would have spent the night in the nearest town, but there were no rooms at the inn.

Anyhow, this trip proved to be not as horrific (well I guess maybe it was, depending on how you look at it), but another adventure. We decided about 20 minutes outside of Golden, that we would pull in for at a rest stop. If you have ever driven through the Rockies, there are tonnes of pull-ins, picnic spots, little hiking trails etc. They are great, and usually have a nice view or an interesting thing to see (this is my plug for Parks Canada) so we pulled in and were having a look around, letting dog out and giving Nadia a few minutes to explore. Of course neither Thor nor I were looking at her when it happened, but the next thing we hear ‘Owie’. I turn to look, and see blood squirting everywhere (in retrospect I don’t think it was actually spurting, just dripping, but fastly dripping) which made my heart go into my throat.

Now, when you have just spent the better part of 1.5 years with a kid with low blood levels, your initial thought is ‘jesus Christ this kid is going to bleed to death, in the middle of the rocky mountains’ then your voice of reason kicks in and says ‘she HAS platelets now, calm down!’ then you breathe and panic hits again ‘oh F#&*, this kid doesn’t have her tetanus!’ then you remember, ‘yes she does! Thank-god she just started her immunizations again’ and then because you are in the middle of the Rocky Mountains and saw a grizzly bear on your drive to Calgary you think, ‘the bears are gonna smell the blood and come charging for us and eat us alive’ then you realize ‘bears are not like sharks, you are gonna be ok, but let’s get into the truck to clean the rest of this gapping gash’.

So after we got Nadia cleaned up and got a better look at the still bleeding finger, we figure she is definitely going to need stitches. UGH! Like it was a gash, a small one, but a gooder. So we turned around and it was back to Golden hospital for us.

We got there and they took a look at it, put numbing cream on it and then explained Nadia would probably need a wee sedative to get the stitches. So they mixed it in with some apple juice and Nadia was drunk as a skunk within 20 minutes, and I wish I had drank the rest of the magic apple juice, because for everything Nadia has been through and things we have seen, gapping wounds with stitches still freak me out. Not so much her getting them, it’s the thought of them getting pulled out by accident. Bleh.

Nadia got 3 stitches, not sure how the doc fit them on her tiny figure but she did and Nadia was a trooper, even after the drugs wore off. And she learned to cope with her finger all bandaged up. She cried a bit when we changed her bandages, but more so that she didn’t want us to take it off. She knew it had to be covered up to keep it safe. She is an amazing little girl and for everything that she has gone through she blows my mind as to how quick she gets over it and moves on. I wish I was like that. They say don’t sweat the small stuff, but Nadia is also teaching us not to sweat the big stuff either. I am a lucky mommy.

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May 21 update (published a month later…)

Things have been busy, with what, I can’t really say, but perhaps just ‘normal’ life? Do I dare say that out loud? We as a family have been doing great. Since our last update in February, nothing has really been going on. We got to go on a week family holiday skiing to Silver Star, about 45 min from where we live. We rented a ski chalet, and had a great week. Nadia went skiing with Daddy, I did a little a bit of skiing. Not really my favorite thing to do, hate the feeling of going fast and not feeling in control. Nadia loved skiing, and although didn’t go down any runs by herself, dad skied with her between his legs on what I would consider a GIANT bunny hill. Remember I grew up on the prairies, any incline more than 10 percent is GIANT. The ski hill also had a tube town, where you go down another GIANT hill, in a tube at extremely high speeds. Again, not really my kind of fun, but Nadia LOVED it, like to the point where when we were waiting in line she had a melt down because it wasn’t going fast enough. I fear for when she hits the teenage years. She is not the cautious kid I was. This little get away, helped us finally be a family doing things families do. I found myself not worried, or reassuring myself every minute that some sort of post transplant side effect would pop up or some sort of symptom of her disease would suddenly appear. Then on day 4 she broke out in a rash on her face, and pimply blotchy rash that made my heart sink and my anxiety go through the roof. I immediately took pictures, and sent them off to Team BMT. They assured me that it did not look like GVHD, and it was probably the sun, wind, and cool weather that just had her skin break out. As the rash subsided from the morning to the evening so did my anxiety.

We have had a lot of local follow-up appointments for Nadia over the last 3 months. We usually see her pediatrician 2-3 months. He is such a fantastic, kind, gentle doctor – we are so lucky to have him. And Nadia is so comfy in his office she just walks in with us trailing after. We met with the opthamologist and dentist, both of whom are amazing. We are lucky in Kelowna to have a few pediatric specialists that are amazing, and it is great that we don’t need to drive to Vancouver to see them. Nadia sat in both their chairs without us having to sit with her. This is huge as we were usually holding her down with our arms and legs wrapped around her. They were happy with her and said not to come back for another 6 months. YAY!

Nadia came down with her first barfing flu at the end of March. Again mommy’s anxiety went through the roof, the bleach came out and I turned into the Tazmanian OCD devil. Nadia was a trouper through it, she would start to feel sick then run to the ‘barf bucket’ and barf away. Poor kid, but she got through it without us having to run to the hospital. This time last year we would have been admitted.

We were supposed to go to Saskatchewan to visit the grandparents a week later for Easter and Nadia was well enough to travel, but her flu hit Thor and 12 hours before we were supposed fly out, and then he too was using the ‘barf bucket’. So trip cancelled. L Hopefully we will get out there in the fall. I quarantined Thor away from us and got to take Nadia to her first movie. She loved every minute of it, and pretty much ate an entire bag of popcorn to herself. I didn’t think she would last the movie but she did, which means now we get to go to movies more often. Can’t wait!

We also got to see Genetics in April. They hold clinics in Kelowna every 2-3 months and in April our geneticist was in town so we got to see her. She is such an amazing doctor and really takes the time to explain things to us so we understand. So I am going to explain this how I understand it, and hopefully it will make sense when I type it all out. When you first get referred to a geneticist for whatever reason, we will use Nadia as an example, they wonder why is she in bone marrow failure and yet doesn’t have cancer. So they look at all the diseases that are associated with bone marrow failure and cross reference any other symptoms the patient may have to help narrow down the possible diseases she might have, trying to find a diagnosis. Then they take a blood sample, and start looking at the genes that are associated with the diseases they think it may be. All genes that have been identified and linked to a disease are listed in a GIANT data base, like GIANT. As we have said in the past, Nadia has a small deletion, also the only type of documented deletion on the TERC gene, which is one of the few genes that they have discovered that is linked to DC. In most of the documented cases with patients having a TERC deletion or mutation, the patients don’t go into bone marrow failure so young, usually in their 20’s or later. Are we all still following or has the circus music started yet?

So it was a big head scratcher for our geneticist to see her bone marrow failing with Nadia at such a young age. So they did more investigating and found that Nadia also has a small deletion on the MECOM gene, which is a gene that lives next door to the TERC gene (I think that’s what she said). So they then looked at the database of genes and found ONE other kid that had bone marrow failure at around Nadia’s age that also had the same small MECOM gene deletion (or mutation or something) as Nadia, but didn’t have the same disease as Nadia. So our geneticist thinks this is the reason Nadia’s bone marrow failed so early. Crazy hey?

Our geneticist also had the results back from Nadia’s exome sequencing. They wanted to rule out another possible disease they thought Nadia may have had, which is called Fancomi Anemia. Thankfully, that came back negative and happy to report no other deletions or crazy findings. To have Nadia’s exome sequenced is pretty amazing and we are super lucky and grateful to have had it done, not everyone has this opportunity and to get it done usually requires special funding from the province, but our hematologist managed to get it done through some research grant money. So we are feeling very fortunate.

We just had another hematology follow up appointment and Endocrinology appointment. Both appointments went really well. Hematology was really great, we spent, well let me rephrase this, Thor and Dr. D spent 80% of the appointment talking physics, 10% talking Labradoodles, and 10% on Nadia. Nadia’s numbers were WBC 9.2 HGH 125, ANC 2.02 and Platelets 321. The platelet count had me almost choke on my gum! This number is record breaking. This time last year her numbers were WBC 3.6, HGH 123, ANC 1.39 and Platelets 231. Jesus I don’t know how that kid functioned when her numbers were so low. Like remember when I would post about her platelets of 6? It seems so long ago, but yet just like yesterday.

Our appointments were late in the afternoon so we packed up our stuff and left Einstein in the car while we were in the appointments, checking on him periodically. Don’t worry, it was underground parking and very cool in the car. The reason I am bringing this up is our Hematologist is a dog lover (obviously a match made in platelet heaven) and also has a doodle head. So we are constantly talking about them. His doodle is a girl and only 2yrs old, so Thor invited him to come and meet Einstein, and he was like ok (insert waggy tail, and excited doggy dance here). So we brought him down to the carpark (which in retrospect seems UBER sketchy) and he met Einstein. Einstein must have known he was a doodle lover because he went straight between his legs and stopped waiting for his customary hind end scratch (if any of you reading this has a big dog you know what I am talking about). Thankfully, Dr. D didn’t think this was odd and proceeded to give E and nice pet.

Nadia’s part of the appointment consisted of getting Dr. D to twirl her with one hand and him proceeding to discuss Nadia’s blood results with his other hand (so talented). Nadia was then able to persuade Nurse J to take her to the better play room. All and all a very good appointment, no need to see them until December, Merry early Christmas present to us! I can’t express enough how lucky we are to have this team.

I would go on to talk about our endocrinology appointment, but we literally waited 1 hour 15 min to see the doctor (who is also a VERY lovely man) and he said he was happy with her growth and won’t need to see us for another year! Love appointments like that.

May 20, 2015 marked 1 year since we returned back to Kelowna, and it is crazy that it has been a year since coming back. Life is definitely different, I’m not cleaning the house with bleach every other day, nor washing Nadia’s hands every 5 mins thinking that are full of bacteria and germs. I am not constantly on the edge of my chair checking her skin for signs of GVHD or checking her temperature. I am feeling a lot more relaxed, however as soon as Nadia gets the sniffles, coughs, has a fever etc my anxiety is through the roof. A few months ago, she had a leg ache, you know the kinds that kids get when they are growing, they are sore and painful and only mom rubbing it will make it feel better? Well she had one, and I was sick with worry that it was her bone marrow failing, or leukemia. Thankfully she was scheduled for her monthly blood work a few days later and they came back all normal. Whew. Thor of course was the calm and collected one, I was like a crazy hypochondriac running about 5 million scenarios in my head. I am pretty sure this feeling will never go away, perhaps it will lessen a bit, but I know it won’t disappear. Nadia’s disease is unpredictable and no two cases are alike even if they do have the same gene deletion, so that always weighs on my brain and my heart. I’ve started to recognize when I start going down the despair path and try really hard to redirect my thought process. This is huge improvement for me from a year and half ago. So progress. J

Nadia seemed to hit the floor running when she went back to her day care full time. She loves it there, mostly because she is in there with 2 other boys. She LOVES boys. The other day we had the furnace and air conditioner’s yearly maintenance check. Nadia was all over him like a dirty shirt. We are gonna have our hands full. Nadia started up gymnastics again this spring. She LOVES it, and I think it was a great activity to put her in to help strengthen her muscles after being restricted for so long. She is getting better at following directions and listening to her coach. Nadia finally got into speech therapy and has been doing really well. Her speech has been a source of stress for me (Thor of course is not stressed, not sure what the heck stresses him out at this stage…..) and I know after everything she has been through blah blah blah…..I shouldn’t worry, however after everything she has been through and will have to go through, as a mom I just don’t want her to have to struggle. Not that she is struggling, she knows what the heck she is saying, we just aren’t entirely sure what she is saying all the time. HA!

Thor just made is 13^th blood donation. Thor had been donating since Nadia had blood transfusions in the NICU when she was born. It was a goal of ours. I had given myself until she had turned 2 to donate and had an appointment booked when all hell broke loose with Nadia in 2013. And then after that it pushed us more to do it. I have done it 3 times, but it hasn’t been easy, the second time I did it, I fainted in Safeway picking up groceries afterwards. I took out an entire display of gift cards, and they had to phone the ambulance. Ugh! So embarrassing. I had gone back once since then and then I almost passed out in the chair while donating. I seem to overheat and then start to pass out. Eeep. Scary, so it has really made me hesitant about going again, but I am determined to it at least twice a year. However Thor with his 13 donations has now made up for all of Nadia’s red blood cell donations. YAY! Now he just needs to make up for all of the platelet donations, Nadia had 9 of them. So to break down the math, basically for every 1 unit of platelets they need, it takes 4 blood donations. So, Thor has to give blood 36 more times to make up for all of the platelets, he would just donate straight platelets as you can do this, but they only do this in Vancouver. So he is going to be busy. 😉 Hopefully I will overcome this fainting thing and will be able to donate more often. I know we have said it before but we really are truly grateful for the blood donors that saved Nadia’s life as well as all of you that started donating after reading her story and continue to donate. Remember you don’t have to donate 56 days to be a regular donor, donating on special occasions or before major holidays when the banks really need the blood is also really helpful.

Well this brings me to the end of this incredibly long post and ‘boring’ post. Thanks again for continuing to follow and support us. We feel very lucky to have you all in our lives.

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Tube Town up (bump)

Tube Town down (weeee!)

Nadia skis the bunny hill

Nadia sings her favourite tune.

Nadia reads

It has been 1 year since we got to hit the restart button and we are so grateful to everyone that has been supportive to us on Nadia’s Quest. Nadia has been doing really well: running, jumping, and playing like a toddler should. I give a shout out to the momma and baby that donated to Nadia’s platelet fund every time I see her climb a jungle gym or fall on her face. I wish we were able to meet them someday. I would probably do the ugly cry topped with one of those hyperventilating breaths, then squeeze them till their heads popped off, so perhaps it’s just as well we don’t meet……

The Nadster is back in daycare full time and is loving it, she will only play with the boys, and will have nothing to do with the girls. Not sure what this means but Thor has been cleaning the rifles more regularly since he heard. We have booked a short and close family holiday at a local ski resort in March, although I am not a great skier, dad is and he is determined to get Nadia to slide down this mountain. Dad is really trying to test out the quality of these new platelets. sigh…….

Tomorrow we have a full day booked at BC Children’s to see a slew of specialists for her 1 yr post transplant check ups. We are hoping that Team BMT will give nadia the clear to start her immunizations again and reduce our monthly blood work.

We want to take this moment to remind people that it is so easy to be a hero and save a life. Please encourage anyone you know to register for the bone marrow registry, donate blood or even sign up to become an organ donor. It is such an easy thing to do, and it saves lives! Just look at Nadia! She wouldn’t be here if it hadn’t been for a mommy that decided to donate her baby’s cord blood. #pushoncesavelifetwice

So thank-you everyone for your support, donations, and kind words over this last year. I don’t think we could have made it without you. Please raise a glass and a piece of cake to Nadia and all of her buddies in the transplant ward. xoxo

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Nadia Bjarnakova’s gymnastics:

Slides

Balance Beam

Jumping over obstacles

As many of you know Nadia was born premature by 6 weeks, spent 2 weeks at BC Children’s hospital NICU and another 3 weeks in the Kelowna NICU.  To the right is a picture of Nadia the day she was born. She was teeny-tiny. When we finally got to bring her home we spent another 6 months pretty much stuck in the house. This was because Nadia wouldn’t breast feed and I was too stubborn to give in and start feeding her formula. It was an isolating time for me, because to get out of house with any baby is hard work, but when you add pumping into that equation it is damn near impossible.

Before Nadia was diagnosed in 2013, and crap basically hit the fan in our life, I often looked back at the preemie days as the worst and hardest time of my life. I felt ‘why us’ etc etc. Now with some perspective and reflection, I know that it was silly of me, although natural, but silly. Then shit really hit the fan with Nadia last year and I felt ‘why us? why her?’ and again I spent the last 3 months of 2013 feeling the same thing I had felt after she was born. It’s a crap thing to happen to us, to anyone really, and it is a hard feeling to describe to anyone who hasn’t been through it.

The feeling of helplessness and anxiety is really unimaginable, it literally takes your breath away. However, in the last few months I have come to the realization that I spent a good portion of the last 3 years more or less feeling sorry for myself.  Yes, it is warranted, I won’t deny myself that, or anyone who has gone through something like this – pity parties are always allowed in these situations – but these emotions can also eat you up and take over your life. You really have to force yourself to dust yourself off and get your day, your life going. It’s a daily struggle. That has been the hardest. So I refuse to think this last year has been the worst of our lives, because it really hasn’t, I don’t want to waste any more time with thoughts like that, or remember it like it was hell, because I know Nadia never felt like that, not for one second.

I don’t want Nadia to ever think that these last 3 years, the first 3 years of her life, were the worst part of my life, because they are the first 3 years of her life and she has has been having a blast. So instead this last year has been a blessing, a gift, a challenge, it has been the best year because I have realized that out of a real crap situation, you learn, you live, and you push on. We were blessed that Nadia got what we now consider her ‘perfect match’ and continues to thrive and I literally thank the universe everyday for it. We are grateful that so many of you were inspired to sign up for the bone marrow registry, and became blood donors because of Nadia — you really have no idea how you have saved lives because of your actions. It literally brings tears to my eyes when I get a message from you saying you donated blood, still waiting to hear if anyone has been asked to be a bone marrow donor, fingers, toes and paws are crossed that one of you will be. We learned that we are stronger than we thought as parents, partners, and humans. And we have learned to push on even when you don’t want to, but you have to, because ultimately you really have no choice.

So we are wishing you all a very happy, healthy and boring New Year because that’s what we wish for ourselves.

“…..And once the storm is over, you won’t remember how you made it through, how you managed to survive. You won’t even be sure, whether the storm is really over. But one thing is certain. When you come out of the storm, you won’t be the same person who walked in. That’s what this storm’s all about.” -Haruki Murakami

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We spent Thanksgiving weekend in Calgary and Nadia got to play with a gaggle of cousins, and had an early Birthday party. Being able to do this trip really marks a milestone towards normalcy. This is the first time in about a year and a half that Nadia has been able to play with her cousins and we didn’t have to worry. We didn’t have to worry about rough play because her platelets are in the normal range. We didn’t have to worry about other kid’s germs because the rest of  Nadia’s bloodlines are all in the normal range. It is really a great milestone to celebrate with family for Thanksgiving. There was a time, especially before transplant, or day zero, or about 40 days post transplant where it didn’t look like a transplant was working, when we feared that Nadia wouldn’t be able to play with the cousins ever again.

We are thankful. We are thankful to everyone who helped us through Nadia’s quest so far. To her doctors, our family, our friends, blood donors. People we have met because of Nadia’s transplant. The Dyskeratosis Congenita support community. We thank everybody who’s come along with us; people who read this blog, Facebook, follow us on Twitter, and to everyone who was there for us and acted as a support group when we needed you. Most importantly we are thankful to her cord blood donor because we know without this generous donation Nadia would not be here today. Thank you.

We’ve had our most thankful Thanksgiving ever. I hope you raised a glass to Nadia’s Quest. 😉

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Well it has been a year since we were told by our Pediatrician to pack up and immediately drive to BC Children’s hospital 4 hours away.  The only thing I remember him saying was “there are no abnormal cells in her CBC smear.” And after Thor asking him “how many days do we pack for?”  He answered “I’d pack for a week”. As we rushed back home, to pack up for ‘5 days’, not knowing what was a head of us, I remember repeating in my head the words of our doctor ‘there are no abnormal cells in her CBC smear’ and it wasn’t until I phoned my manager at work to tell her I wasn’t coming in and didn’t know when I would return, that I really broke down.  And broke down in such a way that I don’t remember what I said to her, I was hyperventilating, like when a kid cries so hard he can only say one word at a time between big sobs and gasps.  All I remember her saying to me was ‘Go, just go!’, she didn’t ask me to explain, or question me, something I am very grateful for.  I knew after that phone call I wouldn’t be able to talk with anyone else, so I just texted everyone in our family. We drove for what felt like an eternity.  My mind racing, but in the background echoing what the pediatrician said ‘no abnormal cells’.  Little did we know, even though it wasn’t cancer, it would be just as horrible.  We arrived at BC Children’s Hopsital at 8pm and, well the rest as they say is somewhat history, or at least you can go back in the blog and read about it!  HA!

I have never liked to mark anniversaries like this, but seeing as how it lines up with Nadia’s 6 month post transplant mark, I felt like I needed to reflect.  After being through, and going through, something like this, it has been tramatic to say the least.  I have gone from a person that I like to think of as calm and rational, to someone who is filled with anxiety and is irrational.  My mind is constantly running a mile a minute with all the things that could have gone wrong to things that can go wrong still.  Don’t get me wrong, I am not so consumed with the ‘what ifs’ that I can’t function or paralyzed with fear. Because this time last year, I was pretty much that person.  I was hardly eating, and barely sleeping.  Thor would have to read me to sleep. (Great advantage of having a scientist as a hubby, as he can read some real boring stuff before bed.) I would wake up in the middle of the night and not be able to go back to sleep.  I would start crying multiple times a day and couldn’t stop.  People say “I don’t know how you are handling this, I know I wouldn’t be able to do it”.  The thing is, for any person that is going through something like we have and are going through, you do get through it and ANYONE would be able to do it, because at the end of the day, you have no choice, especially when your child is involved.  You have to just put one foot in front of the other and get on with it. Your kid depends on you as much as you want to curl up under a rock and never come out, your kid needs you and as a parent, that is what gets you through it. It’s what has gotten me through it.  You can’t have a pity party every day, but you are allowed to have them.  🙂

So enough of the emotional stuff. I realized we never updated our blog from our last appointment we had a BCCH at the end of July, which obviously means it went well.  I am sure you can surmise that all went well. We met with Endocronology for a post transplant appointment, they make sure Nadia’s hormones are all in check and she is growing properly. I am happy to report Nadia went from 10th percentile in height pre-BMT to 40th percentile post-BMT.  HORRAY! I stopped paying attention to the percentile chart for Nadia a long time ago before her diagnosis, because I would get so upset about it. Nadia was a premature and was very low birth weight when she was born, just under 3lbs, so her growing was a big stress on me for a long time. Of course now we know that this was probably due to her genetic disease, she came out a fighter and she is still kicking some serious a$$.  I always sing the song of Thumbelina to myself when we measure her, ‘cause when your heart is full of love, your 9 ft tall’ sing it Hans Christian Andersen!

We then had our hematology appointment with our lovely BMT nurse. Our Hemo docs were on vacation, so we didn’t see them, but who needs them anyways?  All of Nadia’s numbers were in the normal range!  Whoop whoop!  Nadia was allowed to come off her magnesium supplement and our nurse wanted to confirm with the doctors when they came back about taking her off the anti-biotic Septra.  Nadia Has been on this anti-biotic for 6 months. Although she wasn’t sick with anything, this was preventative measure to help ward off chest infections and evil dooers.  😉  So we got word last week Nadia was allowed to stop taking it. She only took it twice a week, but this meant the end of her post BMT drug regime.  WHOOP! WHOOP!  I want to emphasis AGAIN, that we have been VERY lucky that Nadia has only needed the bare minimum of post transplant drugs.  A lot of families I have been in contact with and blogs I have read, the BMT patients are still on a lot of drugs even 2 yrs post transplant.  I can’t help but feel guilty and live in constant fear that the shoe is going to drop (see mind constantly racing above).  We are thankful EVERY day and send out good vibes to all of the cyber transplant families we know, that they too will be off their drugs soon as well. So if you could also send out some cyber vibes to our fellow transplant families we would appreciate it and I know they would too.

We are due back at BCCH at the end of August, this time we will only being meeting with Hematology.

I am returning back to work at the beginning of September.  I will be going back part time and we hired a Nanny for the days I am at work.  Although Nadia’s numbers are high enough to return to day care, it was recommended if we can, to get a nanny and sign her up for activities.  So that is what we have done.  Nadia will be doing gymnastics, music and dance in the fall.  I think she will kill at gymnastics. Dance and music, I don’t think she has the attention span for it, but at least she will be socializing.  I am excited to return back to work. I feel like me returning back to work will give us, or maybe just me, a better sense of normal and perhaps make me a little more sane.  I love my job and the people I work with, and I know I need the structure of work in my life and mind to be a better parent for Nadia.  As long as Nadia’s health continues the way it has been going I think going back to work part time will be the right balance for me.

Nadia is doing really well, and being a normal 2.5 yr old. Temper tantrums with crying and kicking and screaming the whole bit. It is frustrating at the time, but hilliarious when I think about it.  She does it with such passion and feeling I think she should be nominated for an academy award.  She is tormenting the dog, and has become quite the monkey. She scaled the chain link fence the other day in 6 seconds flat.  I turned around to pick up the ball for the dog to throw it, the next thing, she is at the top of the fence ready to climb over the other side. Oh – and she climbed into the crib (vid below). The day soon will be upon us that she will be able to escape in the morning …  Or perhaps she is planning her first heist, this kid’s mind is always thinking.

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Nadia breaks into her crib

Nadia Jumps up and down in muddy puddles

Nadia goes for a bike ride

Thumbelina

https://www.youtube.com/watch?v=8KzY4EEjmyg

This morning I gave Nadia her last dose of her immuno suppressant (cyclosporin or CSA). There are no words to describe the feeling I have.  We are still to take her oral Magnesium for a few weeks more and still have a antibiotic we still administer twice a week. Which is all nothing! Kids that come out of a BMT are usually on at least 15 meds a day, from anti-fungals, to anti-biotics, to steriods, to more than one immuno suppressant, to anti-nausiants.  We have been SO lucky that at the height of nadia’s medication she only had to take 4, and she was as trooper taking all of her meds. In fact in the last few weeks she will see them on the counter while she is having breakfast and point to remind me to give them to her.

Graft vs Host Disease can show up at anytime after a BMT. They say 2 years post transplant is usually when you can let out a huge sigh of relief, but there are documented cases of it showing up 5 years + post transplant.  So Nadia will be monitored VERY closely for the next few years. So we are not out of the woods yet.

We have been enjoying the great weather for the last few weeks. Nadia’s Great Amma and Amma came out just before Canada Day.  We had a great visit with them.  Nadia LOVED the attention and she was spoiled. Thankfully my sister and her 2 boys came for their annual visit and Nadia is just LOVING being around her older cousins. We catch her giving them hugs and kisses all the time.  It warms my heart to see her interacting with kids as she has been so isolated from them for so long.

Now that she is done with her immuno suppressents she has a bit more freedom. We will be allowed to go out and eat at dodgy restaurants ;), go out to public places without wearing a mask and I can relax on my bleach filled cleaning regime. We are feeling like we can take a bit of a breather.  Of course at the back of my head I am constantly seeing germs everywhere.  We are still asking visitors to stay away if they have been in contact with anyone who has had chicken pox, measels etc. We were suppose to go to Calgary this week for a visit, but had to cancel because one of the cousins came down with a mild case of chicken pops 2 weeks ago, even though all the other cousins have been vaccinated and the rest of the adults have immunity to them. It doesn’t matter. Chicken pox has a 2 week incubation time and during that time you are contagious.  So even if someone has a mild case of anything it could turn into something MAJOR for Nadia.  It is a hard concept to grasp, even for Thor and I at times and ESPECIALLY because Nadia is doing so well. I mean everyone during cold season is like “oh I have a mild cold or a slight cough” and you don’t think it is a big deal, and in most cases it isn’t, but not for Nadia.

We are enjoying a quiet and boring life at the moment, and it has been hot as H-E double hockey sticks here. So we have been splashing in the splash pool, Nadia is LOVING it. Her and Einstein are having great fun.

We are going to start potty training on Sunday, wish us luck.  Not entirely sure if she is ready for it, but we will give it a go.

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Our little stunner

Nom Nom curry!

Nom Nom corn like a Bjarnason. It got in her hair and everything!

Nom Nom something messy

Snuggly cousin cuddle

Collecting Rocks rocks!

One, Two, Three, BAM

“hey einstein, check out my splash-pool jig!”