Nadia's Quest

The Metro has published an article on Nadia to help raise awareness of a bone marrow donor registry drive on Feb 2, from 1-5 pm at the Zavieh (Burrard & Nelson Street).

The bone marrow registry drive is being held in Nadia’s and Sophia’s names. Sophia is another beautiful little girl of mixed ethnicity who desperately needs a bone marrow transplant, and like Nadia, is having trouble finding a match. Could it be you? Could you be her Hero? This pdf poster has the details.

You can learn more about Nadia’s buddy Sophia at her Facebook page: Sophia’s Journey.

Thank you Elham for organizing this event, and Thank you Sindhu for sharing our story and helping raise awareness of OneMatch.ca.

When Nadia was first diagnosed with bone marrow failure, there were many possible causes. Some more unlikely than others. Early on in the process the geneticists were considering Fanconi Anemia. It was a long shot because, besides bone marrow failure, Nadia did not have any of the other symptoms that are common with this disease. At the time Nadia did not have a definite diagnosis, so they decided to explore this possibility. It took a long time to get the results, and in early January we were told that Nadia does not have Fanconi Anemia. The first good news of 2014 – keep it coming!

Nadia has been determined to be high risk for RSV, because her weakened immune system makes her more susceptible to catching this virus and also makes it harder for her to fight it off if she does catch it. So Nadia is eligible to get periodic (about every 4 weeks) shots to help prevent catching this virus. Today she had her second round of shots. It did not go great.

She gets one shot in each leg at the same time. Today one of the nurses did not restrain her leg well enough and she moved the leg quite a bit during the shot. Tonight she had a lot of trouble walking on that leg and the area where the needle went in felt kind of hard. We were worried that there might be some internal bleeding from the needle damage in combination with her low platelets, and that we might be heading back to the hospital. With a bit of urging from Mom and Dad, and a few hours, her leg seemed to loosen up and she was walking OK before bed.

Tomorrow 3 of Nadia’s cousins will give blood samples to see if any of them are a better match than the partial matched cord blood we have on hold. In general, Nadia’s health is holding steady and we are still planning for transplant in February.

Judging from the picture below, it looks like Children’s will have a new specialist soon!

The results have come in from sibling testing. It appears that one of Tara’s siblings is a match for her, so now they will be testing her sibling’s children for the remote possibility that one of Nadia’s cousins could provide a better partial match than the 5/6 cord blood we have on hold (very unlikely). With Tara’s family out of the country on holidays, they won’t be able to take blood samples until they return. This is pushing Nadia’s bone marrow transplant back until February. Of course, if Nadia’s health starts to decline suddenly then all timelines will move forward.

Which brings us to topic 2 of this post. A few days ago Nadia’s temperature was high and we ended up back at the hospital. They took bloods and everything was low. Her platelets were the lowest they ever have been. Fortunately, while we were waiting Nadia’s temperature came back down. After consulting with BC Children’s they let us come home. But now we have to be even more careful than usual. Mostly just watching TV and trying to stay in-active.

Nadia’s behaviour seems to be holding steady. Her nose is a bit more bloody than usual, but that is it really. She seems extra cuddly maybe 🙂

We will be getting bloods done again tomorrow. Hopefully we can stick to the February timeline, but we will do whatever is best for Nadia.

On a lighter note – some videos:

Here is Nadia’s Wickenheiser (sounding!) slapshot:

And Nadia politicking from a soapbox:

We were at Children’s this week. We met the blood doctors, lung doctors, eye doctors, and dentists. Nadia got a clean bill from the specialists.

We got an update regarding the bone marrow stem cell transplant. They have a partial cord blood match (5 out of 6 markers match with a mismatch on the A for those who know what that means). They have put a hold on the cord blood and they are starting the process of checking Nadia’s first cousins for the remote possibility that their bone marrow is a better match.

Nadia’s blood counts are trending down, and she is getting close to the point where she will be requiring regular transfusions. They are planning on proceeding with the transplant in early January. So the countdown begins.

We did get some good news from Genetics though. Tara and I are not carriers, so none of our siblings, or their children, will be getting DC. This is really good news.

This means Nadia’s genetic problem either started spontaneously with her, or there could be a problem with my or Tara’s reproductive tissues. This means there is about a 5 % chance of any future children also having DC without some sort of intervention. Something we will think about later.

On a lighter note, there is no computer safe from Nadia’s mad hax0r skillz. 😉

We had a bit of a scare Thursday evening. Just before bed time Nadia dashed into the other room and we heard a big bang. The only witness was Einstein and he’s not talking. I was there within 5 s and picked Nadia up. She rubbed her head, teared up a bit, and then snuggled in. The bruise was already forming, but this is usual in our platelet-compromised little girl. After a short, nice snuggle I took her upstairs to put on her pajamas. She now had a full-blown goose egg growing on her forehead, and another bruise on the other side of her head.

So we started thinking. Oh Dear. What happened? Is this type type of trauma we need to worry about? With Nadia’s platelets so low, she is at risk of a brain bleed from much less trauma than you or I. Having bruises on both sides of her head meant she spun around some how and had two impacts. The worst possible case could have been that she ran off the top 4th stair, jumped, hit the buffet with her head, and then the tile floor with the other side of her head. She might have tumbled down the stairs. We have no idea so had to err on the side of caution. We phoned pediatrics on call at KGH and they told us to come in.

So we did. They took blood, did examinations, and with the advice of the blood doctor on call at BC Children’s (who just happened to be our blood doc we will be meeting with on Tuesday), they recommended a CT scan and to keep Nadia overnight for observation.

I work with radiation safety do semi-annual testing of the CT scanners in our health region. I am quite familiar with this CT, but have never been in the room with it operating and scattering radiation at me. But when children are being scanned it is common protocol to give a parent a lead apron to wear (for protection from the scattered x-rays) in order to help restrain their child in order to keep them as still as possible during the scan. So being inside the scan room during operation was an interesting experience for me both personally and professionally. Even with my best efforts, Nadia struggled and moved during the scan. Fortunately, the image quality was good enough to rule out a major brain bleed, but they could not rule out a minor one.

So we spent the night at the hospital. Nadia does not like having her vitals checked. If anyone walks in the room with a stethoscope around their neck, Nadia freaks out. And the blood pressure test always measures high, if at all, because Nadia screams the whole time. But, we figured out a system back in August when we spent a week at Children’s. Once Nadia falls asleep – she sleeps through all the vital checks!

BUT – this time they were worried about a potential brain injury. So they needed to check her eyes during the vital checks. Talk about crazy-making. Every 2 hours they had to wake Nadia up in a dark room and shine a flashlight in her eyes! It was tricky, but fortunately Nadia would fall back asleep immediately after. In the end Nadia only got about 1/2 the sleep she usually does. She woke up at about the same time she usually does. They left the blood pressure band on her arm that had a connection dangling from it. This way they would not have to put it on and take it off all night. So I awoke to Nadia taking the metal connection and sliding it against he metal crib bars, much like a convict sliding their metal cup along their cell bars. Above is a picture from that morning. Nadia the convict, looking as tired as she was. 😉

This is kind of a taste of things to come. Post transplant, and even for the most successful transplants, it is expected that after being discharged patients will need to return to the hospital a few times as their weakened/developing immune system struggles to cope with the real world.

Today has been a nice day in Kelowna. Nadia and I spent part of the afternoon picking up some leaves. She is a big help!

We are off to Vancouver again soon. We will be meeting with the blood doctors and will likely get an update on the plans for Nadia’s bone marrow transplant. We will also be visiting pediatric respirology,  dentist, and optometry for baseline measurements to be used for long-term monitoring of Nadia’s disease.

Hoping for good weather up on the mountain passes!

http://youtu.be/09xyqhYoqRo

The picture shown here was taken in Hope, when we were driving to Vancouver for Nadia’s appointments.

Below is the contents of an email we sent to friends and family on Sept 18. Receiving Nadia’s diagnosis was very upsetting. From the reading I had done to that point, I was expecting to hear that Nadia had amegakaryocytic thrombocytopenia – something that is cured with bone marrow transplant. And with all the wonderful advances in bone marrow transplants, there would be a good chance of a good outcome. Learning Nadia has a rare genetic disorder that can complicate the bone marrow transplant process, especially with a non-perfect match, was devastating. We also learned that the transplant will only fix her bone marrow failure – she will still have the disease and will have to be monitored closely the rest of her life to treat the premature aging symptoms and to catch possible cancers at early stages. It was at this time we learned that it was a real possibility Nadia might not survive the bone marrow transplant, or if she does she could end up with chronic health issues from the transplant, or she could be fine. Add to this the shortened lifespans of patients with dyskeratosis congenita, and the impact premature aging will have on her quality of life was hard to hear. But we will soldier on.

Nadia update from Sept 18: We were back at Children’s Monday and Tuesday. Here’s an update.

Nadia has been diagnosed with Dyskeratosis Congenita, something that often does not show up in those affected until later in life. She does not have all the symptoms, but she is still quite young yet, so other symptoms could show up down the road. Bone marrow failure syndrome is common with this disease eventually.

They confirmed her diagnosis in 2 ways. Her telomere length is extremely short, less than the bottom 1 % for her age. Also, they looked at her DNA and confirmed that there are changes consistent with dyskeratosis congenita. Telomeres are kind of ‘buffers’ on DNA that are important for cell division. Telomeres shorten as we age and are believed to cause characteristics of aging (like graying hair, thinning hair, old age sun spots, etc). Researchers around the world are trying to develop telomere lengthening methods as a way of anti-aging, which hopefully will benefit Nadia down the road. More on telomeres: http://en.wikipedia.org/wiki/Telomere

Nadia still needs a bone marrow transplant to treat her bone marrow failure, but this will not cure her disease. Also, dyskeratosis congenita patients have a more difficult time with the transplant than other patients. This is scary, but hopefully a misreading on my part. Our bone marrow transplant doctor was unable to meet with us on Monday. Great advances are being made continually for bone marrow transplants and outcomes are always improving. I know of a at least one clinical trial aimed at improving the outcome of bone marrow transplants for dyskeratosis congenita patients and the fact that the trial has been continuing since 2009 is encouraging.

They took blood from Tara and I and will be running tests to see either of us carry this genetic problem. It is possible that one of us has this disease but have not shown symptoms yet <well, maybe premature graying 😉 > If either of us show up positive this will affect our family planning and will necessitate sibling testing as appropriate.

They have not finished HLA-typing for her bone marrow matching process yet, and should this week or next. Once they finish HLA-typing they will begin looking for a match. … we wait …

We have many more appointments yet to be scheduled at Children’s. We don’t have any timelines at this stage. The blood doctors are still holding off giving Nadia a platelet transfusion (because it could interfere with the bone marrow transplant) for the time being, so she is a walking bruise. Nadia is behaving like a typical (almost) 2 year old. Full of energy, running around, and being argumentative. We take this as a good sign.

The kind folks at The Daily Courier in Kelowna did a piece on Nadia to help raise awareness of the bone marrow stem cell transplant network and blood donation.

Thank you Steve for telling our story.

Remember, there are 3 ways to help:

1. Please register to be a bone marrow donor at your local blood collection site or online. While you might not be a match for Nadia, you could end up helping a little boy or girl just like her. It doesn’t take much more than signing a form and quickly swabbing the inside of your mouth; it’s free and painless. You can even order the kit online! Matches can be worldwide, which increases the odds of finding a matching donor.

For information on how to register, please visit the site for the registry in your country:
Canada – OneMatch.ca
US
Other Countries

2. Please encourage everyone you know to sign up for the bone marrow donor registry. Feel free to share this website and Nadia’s facebook page with as many people as you can.

3. Become a blood donor. When Nadia was born, she had a couple of platelet transfusions. It is entirely likely she will need a platelet transfusion before her bone marrow transplant. After the transplant she will need a few blood transfusions. There are a shortage of blood donors and every bit counts.

We were discharged from Children’s on Tuesday and came home on Wednesday, August 28th, almost a full week at Children’s. We picked up Einstein from Just Like Home Dog Care. He was exhausted. I think he had the time of his life while we received our life-changing news. He got to walk once or twice a day, swam in the ocean a few times, and go to alternate sun bathing and kiddy-pool water bathing all day long, when he wasn’t busy playing with all his new doggy-friends.

Many thanks to  Just Like Home Dog Care, the staff at Children’s, Corree and Daren (who brought us some of our belongings that we left behind in Kelowna in our rush packing), Cam and Suz, Bali, Mike and Margaret, Lori and Murray and the girls. And of course family. Thank you all for helping out on such short notice, and with unknown timelines. It is important to love your neighbours and friends – and we love you all. THANK YOU.

The kind folks at Global Okanagan did a nice piece on Nadia, in an effort to try and raise awareness of the bone marrow stem cell registry.

http://globalnews.ca/news/939197/time-running-out-for-kelowna-toddler/

Thank you Klaudia for telling our story!

Remember, there are 3 ways to help:

1. Please register to be a bone marrow donor at your local blood collection site or online. While you might not be a match for Nadia, you could end up helping a little boy or girl just like her. It doesn’t take much more than signing a form and quickly swabbing the inside of your mouth; it’s free and painless. You can even order the kit online! Matches can be worldwide, which increases the odds of finding a matching donor.

For information on how to register, please visit the site for the registry in your country:
Canada – OneMatch.ca
US
Other Countries

2. Please encourage everyone you know to sign up for the bone marrow donor registry. Feel free to share this website and Nadia’s facebook page with as many people as you can.

3. Become a blood donor. When Nadia was born, she had a couple of platelet transfusions. It is entirely likely she will need a platelet transfusion before her bone marrow transplant. After the transplant she will need a few blood transfusions. There are a shortage of blood donors and every bit counts.

Here is Nadia’s Commander Hadfield Calgary Stampede Grand Marshal costume!

Along with a ‘Howdy!’ video. 🙂

http://youtu.be/LLxZQLQqAKs