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 13th 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
