Praying the whole way there

Praying the whole way there

Ok so as promised, here is part two of this week’s adventure.

Daniel and I are sitting in the emergency room waiting to be seen: he has missed his medication and as a result is in the midst of a full blown flare-he has high fever, arthritis, pain. The doctors do his lab work and immediately start an IV since he hadn’t been eating or drinking at all that day. When his labs came back his doctor shared with me that the inflammation was everywhere and his ferritin levels (the number that tracks the MAS in his blood) are increasing quickly.

The day before I had contacted the hospital to see if they had a single dose of his medication there so that we wouldn’t miss a dose, and they had informed me the hospital didn’t carry that medication at all. So I already knew the hospital couldn’t provide the medication that Daniel needed.

After the confirmation from his doctor about what his blood work was showing I jumped into full blown mommy mode and started doing everything in my power to get those drugs. I didn’t know what I could do, but I knew I had to do something because no one else was. When I asked the doctor if they could try and find someone who had the drug they said they probably wouldn’t have any luck getting it.

I remembered during our stay at Sick Kids that they had had some at the hospital which was how they ended up trying the drug on Daniel in the first place. Daniel had had a wonderful doctor there, but the doctor who is the head of Rheumatology in all of Canada was also at Sick Kids, so I emailed him directly. I didn’t know if that was appropriate of me, but to be honest in the moment I didn’t care.

I also sent a facebook post out to my friends at the autoinflammatory alliance-they are an amazing organization that works to support individuals in situations like Daniel’s, who suffer from some kind of chronic autoinflammatory disorder. They are a support network but they also help through raising donations to fund the medical research associated with this illness (and for someone in Daniels case who is undiagnosed, those funds means more potential for answers in the future).

It wasn’t long after I sent that email to Sick Kids that Daniel’s Rheumatologist came down to the Emergency Room. She did a full examination of him and was quite concerned about what she saw. She mentioned that Doctor Laxer (the doctor at Sicks Kids that I emailed) had contacted her to let her know that Sick Kids didn’t have the drug, so unfortunately they couldn’t ship it to us.

Daniel was tachycardic: his heart rate was really high and his blood pressure was steadily increasing. His doctors were really concerned. The autoinflammatory alliance jumped into action at my plea and they contacted the manufacturer – after explaining to them that as a result of one missed dose that my son was in hospital and that to miss even one dose has resulted in a potentially fatal situation for my three year old. The manufacturer told the alliance to let me know they would contact me, after some difficulty with emails and calls (since I was using hospital wifi) we were able to touch base with a senior rep who was CC’ing the CEO throughout our conversation. She finally let me know they would ship the drugs out in the morning. I explained that we needed the drug yesterday and expressed my deepest concern that waiting until the next day may prove to be a fatal situation for Daniel.

She explained that the weather was really bad, and they had to have it driven from Toronto, but that she would see if any of her drivers was willing to bring it to the hospital tonight.

After just a couple of minutes while we were still on the phone she said “Ok, there is a driver here who is able to go, it may take him a couple of hours, but he is on the way.”

An hour went by than two, his rheumatologist came in again and with a very concerned look on her face, looked at me and said “where is his drug?” She knew already it was on the way, but we were all worried. In some cases they may have started steroids to control the blood disorder but because there was so much inflammation and he was still tachycardic adding steroids may have elevated his heart rate even more and they had already explained that his heart rate was high for an adult.

I called the manufacturer back just to see if they had an update, and she apologized she said the driver is on his way but he is stuck in traffic. There was nothing to do but wait and pray, and hold hands with my little cutie. I knew the army of friends, family and coworkers were praying too so Will and I waited in the peace that the God we serve is in control of each detail of Daniel’s life.

It felt like forever (but it was probably no more than an hour. While the nurses were assessing Daniel the delivery man walked in. I don’t think I was ever so excited to see someone in my life. He was carrying Daniels meds in a large cooler, because of course his medication needs to stay cold. He put it down and looked at me and quietly said “momma, I was praying my whole way here.” He took my hand “have faith, your little boy is going to be okay”.

For those of you who have read the New Testament, I feel like I had a little glimpse into the life of the Leader who’s little girl was raised back to life by Jesus. Mark 5:21-43, “Overhearing what they said, Jesus told him, “Don’t be afraid; just believe.”He took her by the hand and said to her, “Talitha koum!” (which means “Little girl, I say to you, get up!”). Immediately the girl stood up and began to walk around (she was twelve years old).

I gave Daniel his injection, he responded with “Thank you mommy, for fixing me, now I can start to feel better.”

The doctors came in another hour later, by this time it is now 9 pm. To let us know Daniel’s room was ready and that they wanted to send him for chest x-rays to rule out any additional infection.

After a chest x-ray we bunkered in to our hospital room for the night. The next morning Daniel was sitting up, pushing my hair back he exclaimed “Mommy, I am feeling better, can I have some breakfast”.

He was still tachycardic and his legs were still in pain, but his fever was gone. The nurse said he hadn’t had fever most of the night. Within a matter of hours he was starting to recover, he was “getting up”.

 

Quick a Bunny

Quick a Bunny

It’s been almost a year since I have sat down to write a post about Daniel. The truth is up until most recently its been a beautifully quiet year. Daniel and Gwen are growing so much and they keep us on our toes everyday. Daniel has been enjoying a mostly normal life this year, with just routine doctors visits and his daily dose of anakinra. He has been able to go to daycare full time and even in the last few months in those more concerning moments when Daniel gets a fever, and cold and flu, or tummy bug, he has been able to recover normally, despite his lab tests and more frequent doctor visits.

He has gotten more verbal in the last year and expresses very clearly how he feels about things. Lately, it’s been about his “quick a bunny”. When Daniel was little and we had to do his injection each night, I would softly encourage him that we would do it “quick quick like a bunny” and then it would be all done. So ever since he could start to speak he has called his nightly injection “quick a bunny”.

I think I might have spoken a bit about his anakinra in the past and how painful and uncomfortable it is. He is such a little trooper for withstanding that needle every night, when most adults grimace at the thought of one-time travel vaccinations that last ten years or an annual flu shot. In the last year, its been easy to wonder “why are we doing this to him every night? Things have been well, is this pain really necessary to put him through? Are there any other options?”

We learned this week exactly why this is necessary and it was terrifying. First let me say though, we had an army of people – family, friends and co-workers praying Daniel through this situation and it is nothing short of a miracle that he is with us this week, so thank you all so much for your prayers.

In the last few months we have had a couple of struggles with the ordering process for Daniels anakinra; many of you know this has also been a prayer request. Our insurance company changed, and although they are 100% honouring there commitment to paying for Daniels medication the ordering process for the pharmacy became way more complicated.

They ended up having an audit done, and then were told they were no longer able to order from the supplier they had ordered from before but that they would need to order from the manufacturer. Which is absolutely fine, however this week there were some major issues. Last week, we ordered his medication and it didn’t come in in the time we were expecting. We always order with a weeks worth of medication left as to make sure we do not run out. However, this time it wasn’t enough.

On Saturday Will called the pharmacy, and they told him they wouldn’t be able to get his medication until Wednesday. We were just hearing from them on Saturday when Will called to follow up that the process had changed and it was now going to take longer. Since we had called and placed our order near the beginning of the week we were concerned this meant that we had run out of medication and we wouldn’t have another dose for the next 3 days.

We emailed Daniel’s doctor and she responded that he should be fine. So feeling still uneasy about the whole thing but reassurred by the doctor that everything should be fine, we continued on with our day. We even went to the Christmas tree farm and picked out a tree, and roasted marshmallows and had a very special day with the kids.

Sunday night rolled around, and Daniel was thrilled when I told him that his doctor said it was ok if we didn’t do “quick a bunny” tonight. I tucked him into bed at 7:45, sang his song and a kiss, and we went about our evening.

At about 1:00 am I was up for whatever reason and decided to check in on Daniel. He was laying in bed, making the saddest little sound. I kissed him and felt fire. I immediately ran downstairs and checked his temperature. His temperature was 103.

I got him some motrin and tylenol, and kept an eye on him through the night. By the morning his temperature had barely gone down at all with the medication. He was gagging in pain, and asking me to carry him because “mommy my legs hurt” (his arthritis was back, in less than 12 hours) first thing that morning I emailed his doctor. At about 10:00 am I called his nurse, who said she would talk to his doctor and get back to us. At 12 after still no response from his doctor, I made the call and packed him up and drove to emergency. It’s frustrating at times, and I know many of you can relate. When you are in emergency and no one around you seems to think that you have an emergency but you! They repeat questions and seem to take forever to have someone assess the situation. Often times a med student comes in first, bless their heart. But I was terrified and needed to know what was happening in my son’s body immediately. As you may recall MAS is still an issue for Daniel and MAS is not an issue that waits for anyone. It moves rapidly and can start shutting down major organs in the matter of minutes.

Less than 24 hours after missing one dose, and Daniel’s life was at risk. So if we ever doubted before that giving him that one injection was worth it, we now know, that he thrives because of this medication. This drug is life-saving.

As a result of support from the Autoinflammatory Alliance, alot of prayers and a selfless delivery man, Daniel is at home recovering fine. But I want to share with you in more detail about our week in hospital,  so I am going to finish this post here. Please keep an eye out for my next post later this weekend, thank you so much for your ongoing support of Daniel and our family and for taking the time to read about our journey.

The “F” Word

The “F” Word

We have an “F” word in our house–to us it’s probably worse than the real “F” word because it means having one of “those” days.

The F word to us is “fever”. When we hear or see or come in contact with fever it’s one of those situations where we high tail it and run, get home and lysol everything and start praying or kiss Daniel every few minutes just to see if he has one coming on.

If Daniel has a fever day and it gets above 99 degrees, we start what has now become a ritual: we email Daniel’s doctor and as soon as there is a clinic day that is available we bring Daniel in for lab work. If his numbers looks fine, we are ok to go home; if not, we immediately start steroids. If there isn’t a clinic day open and Daniel has stopped eating or drinking, we immediately go to emergency and wait for one of Daniel’s doctors to contact us while the nurses place him on IVs and start steroids and fluids.

Fever in Autoinflammatory is common: for some children, they have fever for a week every month. Daniel’s would be daily if not for the Anakinra, so when it comes while on treatment, we try and be very cautious. Since being a part of the Autoinflammatory alliance community, we have been connected with families who also face a similar struggle on a daily basis and having a few people to connect with that can relate to the additional stress and pain that Daniel struggles through has had some positive results. However, this week has been especially difficult as we have had one family that we connect with lose their son suddenly as a result of his illness. He had been healthy and happy for a long time on treatment and then rapidly got sick and developed internal bleeding that they were unable to find the source of. There were so many doctors to consult and no diagnosis that this family ran out of time and their son passed away.

When things have been so positive, hearing this makes you reflect on every second you have with your child, and makes you want to hold on to him and never let go. I guess I can’t help but feel the need for a diagnosis, that having an answer is the key to protecting Daniel, but there is no certainty of that.

We are anticipating an upcoming trip  to Sick Kids in Toronto on May 20th, where we will be meeting with the Clinical Genetics team and Daniel’s team of Rheumatologists to discuss any particular findings in the last set of genetic testing and we are praying that maybe they have discovered some clue to the puzzle that is Daniel.

We have been overwhelmed with an outpouring of love in the last couple of months; friends and family have come alongside us to help in an incredible financial way that gives us strength and hope for our future that we are not walking alone in this. Daniel has touched the lives of many people and we hope that he can continue to do so for a very long time. We cannot thank everyone who has given enough for all the love you have shown.

A very special thank you to our friends who created a GoFundMe account on behalf of Daniel–this beautiful gesture has helped in a real tangible way to lift some of the burden that comes as a result of this illness and the journey for a diagnosis.

Thank you, Everyone!

With all our hearts,
Daniel and the Kinchleas

 

 

Welcome to our Fun House – pt.1

Welcome to our Fun House – pt.1

So it’s been about 6 months since you have heard from Daniel and the Kinchlea family–it’s high time for an update. First, I want to say our beautiful baby girl is growing so much and the love between her and Daniel is so special.

When I was growing up, my family and I lived near Niagara Falls and once in a while, my parents would take us for a fun day to Clifton Hill. My baby brother and sister will NEVER to this day let me live down the day we went into the Fun House. My parents got our tickets and we headed on through. It stared with a turning wheel room you had to climb through; then, a room of mirrors that distorted your figure; then, a room where the floor fizzled and smoked when you stepped on it; then, a dark room with one tiny light at the end of the hall, followed by a clown house room and more. I can’t tell you too many more details because when I got about half way through, I couldn’t take it anymore and I turned and ran! I ran back through the fun house, back through the rooms I had already taken. I was probably 8 or 9 at the time.

You’re probably wondering why I am reminiscing about this memory, and why a kid would run out of FUN house! I mean its supposed to be fun! It wasn’t the rooms themselves that scared me–it was the uncertainty; the fear of what the next room would be like. Would it be darker than the last? would it be harder? would it be more complicated? Some people love the thrill of the unknown: they love haunted houses and horror movies. For me, it’s not the blood and the guts of a horror flick that get me–it’s the suspense. The power of suspense can be quite horrifying. Of course a fun house can also be just that–fun! It has its moments where, despite the suspense, darkness, and the creepy clowns you’re not sure you are happy to see or terrified of, it can give us joy. Our family brings us joy and we are thankful for our kids despite what terrifying fun house they drag us through.

So that leads me to this part of our journey, and can hopefully paint you a picture of what Will and I are facing right now. Welcome to our fun house!

After a beautiful summer of hope and excitement, we are once again facing uncertainty. Daniel as you can remember has been officially diagnosed with an Autoinflammatory disorder of unknown origin. Meaning we know he has an autoinflammatory disorder, we just don’t know which one and or if anyone has ever seen this before.

In my last blog I mentioned that we were waiting to hear from Sick Kids Hospital regarding Daniel’s genetic testing of his fever genes. The doctors came back to us in December with some more information. They had sent his blood work to genetics and they had tested for “fever genes”–mutations that may be causing this illness. They found a mutation in a gene that matched a form of Autoinflammatory disorder known as TRAPS. They thought this might be the diagnosis we were looking for.  However, in the same conversation with the genetics team we all realized they had made a giant error and accidentally tested the wrong blood! They had gotten Daniel’s blood mixed up with Will’s. William Daniel Kinchlea looks pretty close to William Dennis Kinchlea, however names and birth dates, not the same! Turned out Daniel did not carry this mutation, Will did. The good news about this is that, Will has never had any signs or symptoms of this illness and about 20% of the population has the chance of carrying this mutation. So because Daniel’s genetics came back negative this was not the diagnosis we were looking for.

After correctly testing Daniel for fever genes, they found a gene mutation that is linked to a Autoinflammatory disorder called SAVI. SAVI is incredibly rare; doctors have seen about 8 cases of this illness in their time of researching it. Not all of Daniel’s symptoms fit this illness but they thought that maybe this might be the mutation linked to finding a diagnosis. The only remaining factor would be to test my genes and see if I could potentially carry this mutation. They figured it was highly unlikely do to the fact that all other cases they had seen were mutations that were caused at conception, and not passed down by a parent.

If Daniel’s mutation was new, he would be more likely to have SAVI. However, after testing my genes they found that I do in fact carry this mutation and have passed it along to Daniel! Because I obviously do not have this illness as well as the symptoms not quite matching Daniel’s symptoms, they have ruled this out as a potential diagnosis as well.

After having tested for all known fever genes, the only other option is to go on and do a full genome sequencing; this means taking all of Daniel’s genes and putting them under a microscope to see if we can find anything. There is about a 75% chance we may not learn anything, however having this information to refer back to as research progresses will be a huge benefit to understanding Daniel and his illness. This testing will take another five months and in the meantime we will continue to follow our protocol to protect Daniel by giving him his injection and following emergency procedures in place when he gets a rash or fever. If no mutations are found that link Daniel’s illness to a possible diagnosis our only other option at this time is to decide whether to relook at his symptoms by adjusting his medication and “seeing what happens.” Our doctors are fantastic and will not make any suggestions that will be detrimental to Daniel’s health, but the idea of playing around with his life-saving medication is a bit scary

So, this is why our life feels like a fun house. One room after another we are walking through the unknown, we are faced with a new diagnosis and then it changes, or they think they are close to finding an answer and then it doesn’t. All the while we wait and worry and pray Daniel stays healthy so that we don’t spend days upon days back in hospital, on steroids or worse.

Tomorrow I’ll follow up with part 2: living day by day with the unknown.

 

Welcome to our Fun House – pt. 2

Welcome to our Fun House – pt. 2

Day to day, we’re making it through, though sometimes it has been difficult. Will’s vacation days at work were all used up earlier in the year, so the last 6 months I have found myself often sitting in pediatric oncology or a doctors office waiting for blood work and appointments with a 2 year-old, an infant and a breast pump by myself. Thankfully the last couple times we have gone I have been able to find a loving mom-in-law or best friend to accompany me so its not quite so stressful, but we have a lot of appointments and for a while we were seeing multiple doctors weekly. Understandably, it has been hard to find someone available to help every time.

We have been on Daniel’s treatment, anakinra (brand name Kineret), for a year now and he seems to be functioning and developing normally with it in his system. So long as we give him this painful injection every night before bed, this injection allows him to live a somewhat normal life, which is something we are so thankful and blessed to have.

The way that anakinra works is like this: each of us has a protein in our bodies that our cells to turn off the systems that are fighting off illness in our bodies. When our bodies are healthy, these cells get to take a break. Daniel’s body doesn’t make this protein so his cells don’t know how to turn off, causing major inflammation. Anakinra supplies the protein that our bodies naturally make that Daniel lacks. Giving him this medication is helping his body to function like a normal person’s.

I have recently joined a group of other families who are living with Autoinflammatory diseases– some families have a diagnosis while others are in the same group as us that live with the unknown. It’s interesting to connect with others who live with this illness, either for themselves or with a child who has it. Up until now, Daniel has really not been able to communicate a lot of what he feels on a daily basis, but the more I hear from these other families the more I realize how strong his level of pain tolerance is. People who suffer from Autoinflammatory disorders can live with incredible levels of pain: their bones ache; for some it’s hard to even get up in the morning; when they have flares (periods of fever), they are unable to function and it often feels like there bodies are in fact burning from the inside out, despite looking totally normal! Some of these disorders have short flares of a week or so on a monthly basis and some like in Daniel’s case have constant fevers. Daniel’s injection keeps him from being in a constant state of fever. Had we not received that treatment and insurance to cover the treatment everyday, he could have potentially lived with a constant, unending fever for the last year.

So it was hard for me to understand the injection until recently. I, like most of us, have endured needles and I think, especially as a child, they are no fun! Luckily they often only last a second and then we get a lollypop for being brave. Apparently, not the case with this injection. One girl who shares about her experiences describes the injection like this, “the shots burn like a wasp sting for a lot longer than I was expecting.” The needles aren’t small, and they hurt: it has to be kept cold so you feel it more than most injections, even before the sting, burning, and itching. But, for now, they have been working.

(Also a brief update, Daniel’s injection coverage is still being fully covered through our insurance. The reevaluation was approved for another extended period of time–Praise God.)

Daniel has also been able to stay relatively healthy by avoiding daycare when children are ill, disinfecting and sanitizing when out and about, staying on top of not sharing cutlery, dishes or food with others, constant handwashing, and staying on top of housekeeping. Despite all of that, Daniel has still had a few run-ins with the flu, hand foot and mouth disease, as well as multiple bacterial and viral infections. He has a tendency to catch things quicker than most and these are harder for Daniel to handle because he is at a higher risk of developing a fever and causing a flare, which could kickstart his blood disorder. Any rash we see sparks fear and conversations back and forth with doctors, and any fever means at least one trip to the hospital, if not more.

Matthew 6:34 has become a verse that we live out daily. It says, “Therefore do not be anxious about tomorrow, for tomorrow will be anxious for itself. Sufficient for the day is its own trouble.” Not one of us knows what our tomorrow will look like. We can only cherish today, and this is what we have learned to do with our very precious boy.

To be completely honest, and to bare my soul with you all, we are scared and we are worried. We don’t know if we have the funds or strength to be able to handle what the future might hold. Whether that means, a trip to this US to the National Institute of Health for further research and testing, or more long hospital stays, or whether it means we have already been through our worst – there is fear in the unknown.

The last year has been hard, we have shed a lot of tears. We have gained some debt and we have spent countless hours on our knees. We wouldn’t be where we are without our friends and family and our faith, but we have also had 400 more days of waking up to the world’s most beautiful smile, to a laugh that lights up our life, and we have cherished every day since the day the doctors said we could go home.

So, what room do we face next in our crazy fun house of life? I don’t know, and the unknown is daunting. But I will take Will’s hand, and Gwen’s, and Daniel’s and we will face it together. We know we will get through. If you would like to help us, to walk through this journey with us, take our hands, and say a prayer. We can face tomorrow together, when it comes.

A Summer of Answered Prayers

A Summer of Answered Prayers

Hello All, so it has probably felt like a while since you have received an update from the Kinchlea family so I thought it was high time I reconnect with you all. We have received a wonderful summer of peace. We know that is a clear result of your constant prayers, We have certainly had some moments of difficulty through my pregnancy but in regards to Daniel’s health we have been blessed.

As many if not all of you know our beautiful daughter also rushed into the world on August 17th. Gwendolen Elizabeth Hope made her appearance at 35 weeks gestation (yes…as predicted another premature baby) but she was healthy and beautiful. I was able to have the delivery I wanted and hold my precious babe the moment she was born. Unlike with Daniel, where he was rushed out of the room immediately and I couldn’t see him until hours later.

But most importantly the doctors and nurses very successfully were able to collect and bank the umbilical cord blood for any future potential bone marrow transplant Daniel might need. Having that blood stored in a bank in Toronto is honestly a sigh of relief for us. Because even if, Daniel does have to have the bone marrow transplant the success rate is so much higher because of the perfect match Gwen’s cord blood provides for him.

Daniel has had a great summer of few illnesses and so we are reaching a record of 3 months without steroids!! He has been his happy self, he has lost weight and has also had his hearing tested and all of these things are now normal.

We have had family and friends come around us, by providing meals, and helping in times of financial difficulty by providing gas cards to help with our trips to Toronto. Praying with us and sending words of encouragement. Even friends and family gave towards the cost of cord blood banking and words cannot express our gratitude. We have been so encouraged and loved upon this summer.

We do still however covet your prayers, the thing to remember is that despite a wonderful summer Daniel on the inside is still fighting with two rare illnesses, and with his immune system suppressed by medications we are preparing for the next steps as we head into cold and flu season. Up until now the environment has played a big factor in Daniel’s health and it wasn’t until the fall of last year that we start to see Daniel’s health issues arise. We know we can weather any storm, as a family we have faced incredible odds and beaten them, with faith and love and strength through prayer. So we know that we can get through anything together.

In October we will be meeting with a geneticist in Toronto who will do a full analysis of Daniel and also talk to us about what to expect when the genetic profiling of our family returns. Than we wait for the genetic profiling to come back and continue to treat any signs of MAS with steroids should Daniel get sick. Hopefully, when the genetic profiling comes back we will have a better understanding of whether Daniel will in fact need the bone marrow transplant in the next year, which will than determine what our year will look like and when that will need to happen. After speaking with the pediatric oncologist we understand that London Children’s Hospital does not perform pediatric bone marrow transplants and so it would need to be done in Toronto at Sick Kids with approximately 4-6 weeks of recovery in isolation.

So we are so thankful that as I finished my pregnancy and we now have our beautiful baby girl here that we have had a summer of blessings. We are aware of what the future may hold and that we need to continue to pray as we face each day.

Also, for anyone who is wondering Daniel is in LOVE with his baby sister! He needs to give her a kiss each night before bed and is always trying to peer into her crib or share very large toys with her.

For anyone interested Gwen means: white, fair, blessed and dolen means: ring, circle, eternal. We couldn’t think of a better way to describe what she means to us than “Eternal, Blessed, and Hope”

Thank you so much again to everyone who has continued to remember us in your prayers and has celebrated with us during this special summer of answered prayers.

Waiting Game – Daniel Syndrome

Waiting Game – Daniel Syndrome

I am realizing it has been a while since I last posted, and I am sorry I haven’t kept up with it as much as I really wanted to. The truth is the further along in my pregnancy, the more exhausted I am, and the less energy or brain power I have after Daniel goes to bed.

I thoroughly appreciate all of the love and support we have received from everyone reading and following along with this blog.
Since April, we have returned to Toronto a number of times to meet with Dr Schneider, we have had multiple encounters with MAS, and we feel a bit like we are running in circles.
As I wrote about in my last post if and when Daniel gets a fever we have a process to follow: pick Daniel up, call Dr Gibson, Dr Gibson calls emergency, blood work is done, Daniel goes back on steroids. What has happened over the last few months is this…
  1. Daniel is on steroids to control the MAS
  2. Daniel’s blood count begins to improve, Daniel looks well
  3. Daniel comes off steroids
  4. a few weeks later Daniel develops fever and rash
  5. Daniel goes back on steroids
…and around and around it goes…have I reiterated enough how much I hate steroids!! Daniel gains weight, is uncomfortable, irritable and miserable. But its either that or we are at risk of losing him to the MAS. So I am sure the question on everyone’s mind is, how do we fix this? When will we get answers? If you aren’t thinking it, then rest assured that’s what I am thinking too.
Mid-may, we traveled to see Dr. Schneider in Toronto to hear about results from the tests they sent to the States for the NLRC4, (that’s the new ground breaking research they were working on, that potentially links CAPS disease and MAS). We were excited and anxious about the answer! Dr. Schneider felt pretty confident that this must be it, and from here we can work on an additional treatment.
We sat down with him, and through the sound of Dexter screaming we talked.

The results were negative.
We were shocked and disappointed. How could they be negative? It seemed to fit everything we were facing. Through a fog of disbelief, I listened as Dr. Schneider explained that they really had no clue what the issue was – that this was something that has never been seen before. The only next step they could take was to do a full genetic profiling of Daniel, Will and I and see if there was anything out of the ordinary.
Genetic profiling is a long process, so unfortunately any diagnosis has turned into a waiting game. After we left, Dr. Gibson and Dr. Schneider met together, as they felt that there needed to be more doctors in London who were aware of Daniel’s situation. They arranged to come down and set up a meeting/training session with the pediatric oncologists in London on how to handle Daniel’s case. They also agreed that if a potential treatment for MAS on its own for “regular” cases was bone marrow transplant, that being prepared for that as a potential future option would be proactive. They would start the genetic profiling right away, and they agreed that we would continue to follow the same regime to protect Daniel from the MAS in the meantime.
So, the steps we are taking to figure out what the Daniel syndrome is
  1. Do a full family genetic profiling
  2. Save cord blood from Daniel’s sister to potentially use stem cells as a source for bone marrow transplant in the upcoming year
  3. Continue taking necessary precautions when fever and rash occur by treating with a combination of steroids and anakinra
  4. Wait…
We are doing our best to be patient. The truth is it’s been hard, especially when we are home with Dexter. It sucks, because one minute things look positive and we have are happy smiling boy and the next, we are back in hospital.
Luckily, we have learned to be a support for one another. Will and I have held tight to each other through this, so we can be the best parents we can be to this special little guy. Our faith has also played a huge role in this – sometimes when we feel utterly helpless we know we can always pray. It’s hard, we have faced a lot of stress, particularly the financial strain of driving back and forth to Toronto, the expenses of parking and food, and for those of you who don’t know, the cost of privately banking umbilical cord blood. Thankfully, with the support of the doctors and medical assistance coverage it is not so severe, so having approval for that is a huge blessing, but it still does not cover the whole cost.
Despite the difficulties, we have been blessed: we are together, we are being supported by an amazing team of doctors who are working really hard to help find answers, and we have each and everyone of you who are taking the time to read and pray with us.
We know it will still be a rough road ahead, especially with two little ones. This pregnancy has been incredibly hard at times too. As a little side note, my OB is concerned this baby girl may also come early just like Daniel did. In that pregnancy, my water broke at 30 weeks, Daniel was born at 32 weeks and 2 days, and we spent 20 days in the NICU. The doctors are giving me hormone injections to hopefully prevent early membrane rupture this time. I am 31 weeks pregnant tomorrow, and so hopefully all goes well and we won’t have another stay in the NICU.
But we are all in this together: Will, Daniel, baby girl and me! As long as we have each other what more can we ask for but your prayer and support.
Living with Dexter

Living with Dexter

I wanted to share a little more in depth what happened following our stay in Toronto, so as I previously mentioned Daniel (and Will and I) were discharged from Sick Kids on February 14th. We returned to work, daycare etc. and Daniel continued on the steroid treatment as well as his regular dose of anakinra to prevent the re occurrence of MAS and whatever the auto inflammatory disorder is that he has.

Things were tough, Daniel would sleep at most… increments of 45 minutes at night due to the fact that steroids cause restlessness and he was constantly hungry, which is another side effect of steroids, there is nothing you can do to satiate your hunger as the medication gives you the illusion you are always starving. He was also incredibly moody, we used to try and make light of it by saying things like “he’s turning into a little hulk” the doctors nicknamed his alter ego Dexter (the angry roid rage version of Daniel) Dexter would fight, and hit and kick and bite, when he didn’t get his way and grit his teeth so hard and try not to scream in frustration that we thought eventually he might just turn green (like the hulk).

Steroids are awful!! and even worse for children! Because you can’t explain to them what side effects are and why they feel as awful as they do.

And if the alternative wasn’t organ failure or death from a blood disorder we would never ever want him on them again. But they were keeping him safe and so we needed to tolerate Dexter – I remember I cried and still sometimes do that “this is not my sweet, beautiful, smiling, happy little boy.” and man I missed him. But he was still in there, We would have moments in the day when Daniel would reappear and I would cling to him in those brief moments and soak up as many ’tisses’ and hugs as I could.

A few weeks went by and things began to progress well…we had regular follow up visits to Toronto and were given a fever card by Victoria Hospital Pediatric Oncology department and follow ups in London with our new doctor; Dr. Paul Gibson.

So you may be wondering why are we visiting Oncology? Oncology isn’t that Cancer? and yes…yes it is, however something you may not know about Oncologists is that not only do they specialize in Cancer but they also specialize in Hematology: definition – the study of the physiology of the blood.

Dr. Gibson is one of the only doctors in London qualified and knowledgeable enough about MAS to handle Daniel’s case, our method of emergency was that if Daniel developed a fever we would need to contact the on call pediatric oncologist and let them know, and they would refer us to seek immediate attention at Emergency – they would call ahead let Emergency know we were coming and Daniel was to be put on immediate antibiotics, steroids and blood tests were to be done right away.

Ok, so I was side tracked, things were going well. Follow up blood work was looking well, and they slowly began to ween Daniel off the steroids, we were beginning to have a few more days with Daniel and time with Dexter was becoming a lot less frequent. We were feeling like we could breathe a little bit.

Until March…I received a phone call at work from Daniel’s daycare – he had a fever. We monitored him for one hour the fever didn’t budge, I immediately started the process. I went to pick him up right away, called Will, who called Dr. Gibson, Dr. Gibson called Emergency, Daniel and I went straight to emergency and Will met us there.

Thankfully with Dr. Gibson’s referral and our fever card we were immediately whisked to an isolation room where blood work was drawn and steroids were amped up again, (Keep in mind he was still on steroids) Daniel was put back on IV’s at Vic and we were sent upstairs to bunker down on pediatrics Victoria Hospital Sick Kids for a few more days. Doctors who saw us had there hands tied, as everything that was done for Daniel needed to be consulted by Toronto and Dr. Schneider, we were carefully monitored and another million tests were done. The final verdict! Daniel had…viral pneumonia. Daniel was still on steroids so he didn’t seem to have MAS reoccur as a result of the pneumonia but they couldn’t be sure, so they needed to take precautions. We went back on higher doses of steroids and after a few good weeks we were back to living with Dexter, we were discharged from hospital after 48 hours and the sleepless nights continued…

Thankfully though other than this little hiccup in March things eventually slowed a bit and we were able to move Daniel off the steroids in April, we had a lot of follow up visits in Toronto and frequent blood work but things were starting to look better.

In one of our visits in Toronto, Dr. Schneider shared the results of some of our blood work, Daniel was officially confirmed to have auto inflammatory disorder, and the blood work testing for CAPS disease came back.

Reminder~ CAPS disease or (Cryopyrin-Associated Periodic Syndromes) is the most common of auto inflammatory disorders.

The results were negative…

So what does that mean? it means our sons blood work showed he has an genetically produced auto inflammatory disorder that is treatable by the medication that he is on that is not CAPS, (something that is quite rare but still the most common form of auto inflammatory that doctors are familiar with) Dr. Schneider was not completely shocked since Daniel had also been suffering with MAS as a complication and Rheumatologists have NEVER seen someone with CAPS also have MAS.

Dr. Schneider explained that he had a colleague in the US who was recently researching a brand new strand of auto inflammatory disorder that was in fact associated with MAS, he wanted to be able to send a blood sample from Daniel to find out if maybe this was the blood his friend was looking for, the test they were doing was to find a genetic mutation of a gene NLRC4 (NLRC4 gene is a gene everyone has! they just wanted to see if something was wrong with his)

So…if you aren’t completely confused by all these letters and numbers and talk about genetics and DNA and everything else than awesome! I know I was, Will was able to understand alot of this faster than I was so don’t worry. Basically just understand this, Daniel’s blood was being sent to the states to see if his particular genetic mutation was a brand new strand of a disease a researcher was working on, that hasn’t been discovered yet. Ground breaking medical research here folks, haha…

I mean we always knew Daniel was one in a million – now we have genetic testing to prove it!

Sick Kids – Part 4: Going Home

Sick Kids – Part 4: Going Home

I thought this was an appropriate evening to sit down and right my next post, mostly because I am feeling somewhat emotional – so bare with me if there is some ranting, but also because I wanted to share what ‘going home’ means for us.

We were thrilled when the doctors told us that we could go home, Daniel was doing clinically well and on February 14th (Valentines Day) the doctors gave us the green light. I remember so clearly the three hour drive and picking up our doggy, who was so graciously bunking in with amazing friends of ours; and walking through our front door and realizing ‘wow! look how much space we have, we get to be home!’ We were excited but there was another emotion lingering – especially for me! Absolute FEAR!

You see, in the hospital, when MAS reared its ugly head we were surrounded by doctors and nurses with equipment and technology that when used immediately could save our sons life. But at home, it was just us! We are solely responsible to watch for an undetectable blood disorder that could in a matter of hours take Daniel’s life if not treated quickly! I know what your thinking…”Holy Cow, could you put enough pressure on yourselves” I know, I know. its ridiculous but this is how I was feeling. Its tempting to want to put Daniel in a little bubble and let him run around fully isolated and contained but safe from the rest of the world. But at the same time, I don’t want him to not ever be able to feel like a normal boy, to run and play and have friends, and grow and experience things.

I think we all as parents feel this way about protecting our children at some point, only for me its at the back of my mind all the time. Doctors orders for Daniel were to continue with his steroids, make sure he was getting his daily injection, and if he had any fever over a 37.6 (99F) we need to immediately take him to Emergency.

OK, here comes the rant, for a child that has visible disabilities, in a wheelchair, crutches, blindness, deafness etc. hopefully…in most cases, people have a tendency to be compassionate, caring, understanding and accommodating. But for a child, like Daniel, where things aren’t quite so obvious things become easily forgettable. (except of course for the parents who just spent 3.5+ weeks in hospital with him) When we go out in public, and people see Daniel when he is on steroids and he has gained 20% of his body weight while taking a medication that causes him to eat all the time, and retain water, they don’t first assume he is sick, they assume we overfeed him. That he is overweight! I can’t tell you how many times I was ashamed to take him out because of comments and nasty looks I would get from complete strangers who know nothing about what we have been through. People who give us strange looks in the store because Daniel has a fit of roid rage (which he cannot control, because of the medications he is on)

But not just that, people forget that a flu, cold, or tiniest little germ infected bug can cause Daniel’s MAS to come back, can give him a fever and than we are a minimum of 48 hours, in the hospital. So when we leave because we see another sick child at church coughing, sneezing or with a running nose near him, or we ask people to wash there hands before feeding him a cookie, or not let there dogs lick his face or hands, or wipe down the highchairs at a restaurant before sitting him in it, we have eyeballs rolled at us, because we are paranoid, overprotective parents.

Please!! Please!! don’t judge. Because we are working our darndest to protect our child’s life, and you may not know the whole story.

OK, rant over.

So now that we are home, we can try our hardest to pretend that our lives haven’t just been turned upside down, and that we can go back to our new normal. Our new normal includes daily injections administered by Will or I, dealing with a child who is not sleeping, constantly eating, cannot control his emotions to a wild extreme, a minimum of once a month drives back and forth 3 hours to Toronto for follow up testing, weekly blood work at Victoria Hospital in London, filling in all our doctors here in London what has happened with Daniel, working full time, going back to daycare and being pregnant,

Its funny, now that I see it in writing it seems a little bit crazy, but this is our life, and we are so happy to be home. That in between the moments of craziness we have moments of incredible joy. When Daniel laughs, or gives us ’tisses’ or smiles and melts the hearts of people around us we cannot be happier to be back home.

Our Stay at Sick Kids (Part 3): Treatment

Our Stay at Sick Kids (Part 3): Treatment

So, when I say Daniel began to improve within 24 hours of being on treatment, what I meant by that is clinically he began to get better, he was placed on a daily dose of a protein injection known as anakinra to treat his unknown auto inflammatory disorder. The doctors confirmed that he does in fact have an auto inflammatory disorder just WHICH one they weren’t sure of, the anakinra injection helped with his fever, juvenile rheumatoid arthritis, and rash.

Within 24 hours the fever he had fought for 32 days was now gone. They also started him on a large pulse of steroids to treat the impending MAS, and tracked his blood work daily. They were thrilled to see the numbers steadily decrease. To put it in perspective the inflammatory markers in a normal persons blood (so for you or I) looks like the #60, Daniel’s inflammatory markers at the time of the MAS was #15,000. Like I previously mentioned getting ahead of this syndrome is often times difficult, and we know that being covered in constant prayer and the skill of Dr Schneider and his team was an incredible blessing to us and Daniel.

Our little boy was pulling through, and by the Grace of God it looked like we might get to eventually go home, we had, and still have, a long road ahead of us but to be able to feel somewhat normal and sleep in our own beds would be a real gift.

Dr. Schneider explained that the confirmed auto inflammatory disorder would mean that Daniel would need to be on the anakinra for the rest of his life. There are two things about this that made it somewhat complicated.

  1. Will and I would need to learn how to give injections to Daniel
  2. We needed to pray it would be covered by our health insurance benefits!!

The thing about anakinra is that it works great and is not harmful to Daniel in anyway, it really is just a protein that our body naturally makes that because of his genetic mutation his body does not make. So if given this injection he is no different than any other normal kid. Even if for some crazy weird instance Will or I or anyone else for some reason accidentally got injected by it, it would do nothing – have no side effects, since its just a natural substance our bodies already create. So it is harmless to us, and life saving for Daniel.

However, (and everyone remembers from English class that’s just a fancy word for BUT) because auto inflammatory disorder is rare, meaning there are approximately about 4 million confirmed cases in the world, and CAPS disease has approximately 1 in a million cases confirmed – referenced nomidalliance.org (auto inflammatory alliance) – and even less for children, anakinra has been FDA approved but not Health Canada approved, yet! And the dosage is not set for children either.

The doctors explained that Daniel’s dose costs approximately $70 per day!

Every day for the rest of his life.

Will and I are so thankful that God put us in the jobs that he did both at Western University and Compassion Canada that provide full coverage health plans, but we still needed to wait for approval as to whether or not this would be covered or not. The doctors at Sick kids did not want to discharge Daniel without knowing this medication would be covered.

This was and IS another big prayer request.

The doctors intended for us to stay at Sick Kids for as long as need be for us to get coverage for this medication as Daniel’s life was in danger without it. The nurses at Sick Kids worked diligently with us to teach us how to properly give Daniel the injection. And we waited patiently after filling out a lot of paperwork to hear if his medication would be approved.

In the meantime Daniel also continued on the steroids for the MAS, and we began to face the side effects of those steroids. For anyone who is familiar with steroids, you will know that side effects of this medication can mean restless sleep (or complete inability to sleep) constant feelings of hunger, weight gain and water retention, roid rage and more. In our case these are the most common side effects in Daniel. With out the steroids he was at risk of organ failure and potentially death, but on them he was transformed into this angry Jekyl and Hyde like character, constantly hungry, angry and exhausted. It really was choosing a lesser of two evils.

Doctors began to refer to Daniel’s steroid self as Dexter (yes, like the serial killer) because of the crazy look in his eyes he would get in a fit of rage. But the steroids were working and we were successfully battling the MAS!

After what felt like an eternity we were contacted by the insurance companies the first company (coverage through Will’s work) was denied, our doctors worked diligently with us to resubmit our claim, but we couldn’t help but feel somewhat discouraged. But the second company (through my work) was approved with conditions…

We were approved for coverage until July but than our claims would need to be resubmitted. We were thrilled, and so thankful this could mean we might get to go home.