My son Luca died in May (2018). He had just turned 10 in February. I was not expecting it. It was sudden and horrific. He developed a brain bleed secondary to his autoimmune hematological disorder, called immune thrombocytopenia purpura (ITP). After two craniectomies to reduce swelling he was soon pronounced brain dead and we had to go through the process of stopping life support, and watching his body die in front of our eyes.

ITP causes a person’s immune system to attack their own platelets. Having low platelets means you are at risk to develop serious bleeds. Fortunately, most do not. And most children with ITP have the acute form, meaning it resolves within a year. Luca’s ITP did not resolve. At eight years of age, he was diagnosed with chronic ITP. A form of the disorder that is lifelong with minimal chance for remission.

Most individuals with ITP only have minor skin bleeding that presents as exaggerated bruising and/or a red non-blanching pin-point-like-rash called petechia. In some cases, heavy nose bleeds and heavy menstruation (in women) can occur as well. In rare cases, ITP can also lead to more serious bleeding presenting as spontaneous oral gum bleeding, mouth blisters, ocular bleeding, hematuria (blood in the urine), gastrointestinal bleeding or bleeding affecting other internal organs, including intracranial bleeding. Severe bleeding is rare. The quoted risk by current experts for visceral bleeds with ITP is only 4%, and the risk believed by many experts for an intracranial hemorrhage is less than 1%. Luca was the rarest of the rare.

About 2.5 years following his diagnosis, in the fall of 2017, things changed.

Luca started out as a low-risk case. He was even termed a ‘non-bleeder’, having only skin bleeds and a couple of very minor nose bleeds. We bought humidifiers and scattered them all over our house to reduce the incidence of nose bleeds. About 2.5 years following his diagnosis, in the fall of 2017, things changed. He became ‘a bleeder’. His platelet level was always below 10K (normal levels are 150-400K) in the critical range. He had frequent nose bleeds at school (where they do not have humidifiers), epic nosebleeds at home that required an emergency room visit at our local hospital to stop, and stomach bleeds. He would also throw up random blood clots from his stomach, vomit coffee grinds, developed oral bleeds, mouth blisters, and hematuria in addition to his widespread significant skin bleeding.

He was only treated when he was actively bleeding, even though he had severe thrombocytopenia (levels less than 10K). We were told that was what the guidelines indicated. I think I may have even glanced over them myself years ago to just see for myself that there was no minimal platelet count in which treatment was recommended. The previous version of the guideline’s did spell out treating under 30K regardless of symptoms. What I didn’t read more closely in the guideline is the suggestion to treat when levels are low and serious bleeds have occurred at such low levels. Prevention is a goal of therapy.  Luca was not a bleeder at that time, so I didn’t really pay attention I guess to that part. I trusted the respected physicians Luca had on his side to know this information. The revised 2011 guidelines for ITP treatment were the current guidelines when Luca was alive and are based on studies (that are not longitudinal and do not match patients up based on similar clinical features) that suggest the risk overall for a brain bleed is less than 1%. The risk for a brain bleed is so rare, it’s not really even though about, so the risks of the treatments are weighed against the benefits. I believe, his levels should have been kept up always once he became a bleeder since his body was giving us warnings that he could not tolerate such low platelet values anymore. Luca went from the first week of February to first week of May with NO treatment, nothing keeping his levels up. Nothing. And worsening skin bleeds and continual mouth blisters and oral bleeds.

My husband and I believe Luca’s brain bleed started on May 7^th because he complained of a headache in the morning, but it had gone away with Tylenol before school started. He had headaches before, and they always resolved. Around lunch time the school called to say Luca was very tired and needed to be picked up. I happened to be getting ready to fly the next day to an out of province conference and was rushing to finish things up in the office, so when I heard he was tired, the first thing I wondered is ‘is he faking this because he’s sad I am leaving tomorrow?’. My scheduled departure for the conference was stressing him out and he was sad reminding me how we’d never been apart that long.

I called up a friend who worked at the daycare attached to Luca’s school and asked her to check on him, and when she called me back it was clear something was wrong. She allowed me to talk to Luca on her phone and I remember he said “mommy, please hurry I feel really tired” and when I asked him if he’s ever felt this tired before he said “I feel like I did the last time dexamethasone didn’t work”. At first, I had not clued into what that meant. Later I realized, he felt as tired as he did the day he woke up with a broken blood vessel in his eye and gum bleeding and we started dexamethasone, only to later learn it did not elevate his platelet count significantly. It did stop the bleeding, however. My heart was racing.

I wondered if he was having a brain bleed because his levels were so low, and the night before he had an argument with his dad and he was very upset. The argument arose because Luca had shared with us that while his best friend was over earlier in the day, they made a video and posted it on YouTube, creating his own YouTube channel called Universe Gamer. We had previously told him no and we were upset we had not been able to preview the video first to ensure it was safe to put onto the internet. I thought we had already moved passed this when we shared why we were less than thrilled, but while I was in the shower that night, my husband told Luca as a punishment he would be losing his tablet for three days and he freaked out. He ran upstairs crying, busting in the bathroom while I was in the shower, his face beat red angry with tears rolling down his face screaming about how he lost his tablet for three days. I told him to calm down and that he would not be losing his tablet for three days that was ridiculous. I was so angry because my husband waited until I wasn’t around to decide on this punishment, and I knew his platelets were so low and this would anger him. I had anxiety the stress this caused him could cause a brain bleed. So, you can imagine how I felt the following day when he did have a headache.

Before picking up Luca from school, I had called a member of his hematology team to see if extreme fatigue could be related to his earlier headache and if they wanted to reassess him, but the team member I spoke to felt it likely wasn’t because his headache resolved, and he was able to walk around. So, the conclusion was he was likely developing ‘a bug’. I left work as soon as I could to pick him up.

I was very worried. Five days earlier following a bike injury, we were told his platelets were less than 5K and his hemoglobin was the lowest it’s ever been. His team felt it was not necessary to repeat his bloodwork the following day, and treatment wasn’t suggested. They assumed his low count was a concentration issues. This wasn’t unusual as most of his team felt he should only be treated when he was actively bleeding. However, with petechia and bruises everywhere, and blood blisters on his lips I was nervous. When I picked him up, he seemed a bit depressed, but otherwise okay. Not how I imagined a kid having a brain bleed would be like. When I asked him if he was okay, he said ‘yeah I am just tired and I want to go home’. I did notice in the parking lot when he looked at me that he had a tear blue bruise above his left eyebrow. He said he got it from a lightsaber when playing with his best friend when they were making the video. I told him ‘You have to tell me these things!!”. He got angry and said it was fine it didn’t hurt and it wasn’t a big deal. He told me twice to not worry. At this point, I didn’t believe he was having a brain bleed but I was highly suspicious he would have another GI bleed perhaps blood in his stool as that was really the only other symptom he had not yet experienced (apart from a brain bleed) from the list of possible ITP symptoms. I made him go to the bathroom as soon as he got home. He was in the washroom for a long time. When he came out I asked him if there was any blood, and he said no. He got onto the sofa and asked for a blanket and had a nap. I kept waking him up because I thought about a brain bleed again, but he woke up each time I poked him every few minutes and seemed ok. I decided I was being foolish for worrying about something that wasn’t happening and I thought okay, he’s just fighting off an infection. I remained on edge because I knew his levels were low, and when he’s sick they drop even further.

My husband and I literally used to say to each other “He’s going to be the kid that gets a brain bleed and they won’t know what to do.”

I was always worried Luca would be that kid who developed a brain bleed. My husband and I literally used to say to each other “he’s going to be the kid that gets a brain bleed and they won’t know what to do”. Because they downplayed the risk all the time, even when he had a headache. While I joked about this, I never really thought he would be. And he was that kid. It actually happened. He actually was that kid. And when they found out one of his doctors who saw him last following the bike accident actually said ‘omg, who knew? Nobody could have seen this coming?”. REALLY??!!! I mean, REALLY??!! In hindsight, I read that having hematuria and GI bleeds and mucosal bleeds puts you in a different risk category especially when there is a marked change in bleeding patterns. He didn’t have the thunderclap progressive headache that was ‘the worst headache ever’ we were told to watch for. I don’t know why I didn’t do more reading on brain bleed symptoms or intercranial pressure symptoms beforehand, but not everyone with a brain bleed presents this way. I was always reading articles on ITP, but my personal research was directed to reading about causes of ITP, various treatments and their risks, epigenetics of autoimmune disorders such as lupus and ITP. I was one of those moms always on the internet reading and learning. In fact, I am still doing this, and Luca has died.

His team went out of their way to remind my husband and I on multiple occasions they are experts and even corrected me many times when I commented that ITP is rare. It is rare. Period. The Rare Disease organization would not feature ITP on rare disease day in February if it was not a rare disease. I think they were trying to make us feel more relaxed dealing with something they didn’t think would turn out like this. It feels like his team of specialists played Russian roulette with my son’s life without seeming to fully respect and understand the nature of his condition.  

His symptoms of a fluctuating low-grade headache, extreme fatigue, zero appetite, vomiting, light sensitivity, and falling in and out of sleep was chalked up to ‘him getting a bug’. He was not seen personally for an evaluation to just make sure. The assessment of his symptoms and his teams conclusion he was sick with a bug was all completed over the phone. By the time Luca started slurring his words and losing the ability to walk and talk on May 8^th around 4pm, it was too late. His brain bleed took over. He was unconscious by 5pm and it took approximately six hours to get his platelets high enough to do a craniectomy (which is where they remove part of his skull) to allow for space in cases of increased intracranial pressure.

We were scared we already lost the boy we knew and loved so dearly.

Initially, his surgeon told us that she was not very hopeful since his left pupil was fixed prior to surgery. However, following the first craniectomy, his pupil became unfixed and he was responsive for several hours. His pressure was also very good and maintained for several hours. His surgeon did tell us ‘his brain is still very sick’ and it wasn’t until later that I learned he already had some brain tissue death as the colour of his brain was not quite like that of a healthy brain. We were prepared for lots of rehab and was told it could be three months before part of the skull that was removed could be reattached. Thus, he would need to be in the hospital for a long time. The surgeon also prepared us for personality changes since the bleed started in the front lobe area. We were scared we already lost the boy we knew and loved so dearly.

I had mentally prepared for quitting my job as a genetic counsellor at the hospital and devoting my days to helping him regain any losses. Literally, I mentally checked out of my job during that conversation– just like that, I was done. My husband was on board with doing whatever we could for him. It wasn’t until much later that I asked myself ‘what if he never walks again, or talks”? I know his surgeon was relieved to learn he was a lefty because she was concerned that he may not be able to write or use his right hand well. But at that time, I just wanted to talk to him as I imagined he was pretty scared. And pretty angry I imagine as he kept saying for weeks before ‘I think something is going to happen to me soon, my petechia is everywhere” “I am scared something bad is going to happen soon”.

I hope Luca knew I was there with him in the hospital, that I came back from Montreal. I should have never left in the first place. I had decided to leave because I was reassured by his team within three separate phone calls to them over a 24-hour period that he was just fighting a bug. I felt pressured to attend the conference as I was presenting a poster. When I received a text from my husband to come home fast, Luca was slurring his words, I had to find my way back. It was the scariest time of my life. By the time I arrived back in town, he was already in surgery. I did not get to talk to him again. I did not get to say goodbye.

My last conversation with him that morning was about bringing him back ‘Robucks’ for this beloved Roblox’s game. I have a lot of regrets, including getting on the plane in the first place to attend a conference, when my gut was scared as hell. I knew he was sick and I was so scared his platelet count would drop to nothing and what if throwing up caused a brain bleed. I sensed something awful could happen, I just didn’t think he was having a brain bleed. I didn’t listen to my inner voice. I wanted to believe the conclusions the team made about his ‘sickness’. I felt pulled between my job and listening to my gut. My gut had been wrong before. Maybe it was wrong this time too?

Following the first craniectomy, I was able to hold his hand. He was in an induced coma, and I could tell his fuzzy pre-teen hair had been shaved and his entire head was bandaged up. He could not hold my hand back, but I talked to him, and hoped he could feel us holding onto him.

He had a full team of ICU nurses caring for him and at one point I remember they said he had developed diabetes insipidus due to his brain injury. The nurses were very reassuring and said they would teach us how to deal with this new diagnosis, on top of his brain injury, on top of ITP. Poor Luca had so many IVs and lines coming out of him. It was awful. I knew he would be upset if he knew what was happening, it was hard enough for him to deal with a needle, let alone several out of every arm, and leg vein. Honestly, he was covered in tubes. Around 5:30 am it became impossible to stay awake. I had to sleep. I had been up for over 24 hours at that point. One of the nurses told me I could rest in a room down the hall. So, I did. My husband went home to make sure our younger son went off to school ok in a few hours.

I was a mess.

I woke up around 6:45am because I didn’t want to be gone too long, and when I woke up I just cried. I cried because I was right, he was that kid that would develop a brain bleed and nobody did anything to prevent it. I cried because I knew he was scared, I cried because I was scared, I cried because I was worried about my job and leaving the conference I was supposed to present a poster at (I was first author for the first time ever! And my team was depending on me to represent them), I cried because I was angry. I cried because I worked so much and often put work over my family and I hated myself for leaving to attend a conference when Luca needed me. I should have been there. I then decided Luca needed me I needed to pull myself together he wasn’t dying, he needed me. I went to the washroom, tried to fix my hair, and then minutes after 7am I rang the buzzer to the ICU to return to Luca’s bedside.

There was a delay – and I could tell by the sound of the nurses’ voice on the other side of the buzzer that she was hesitant to let me in. I got to his bedside, and all his team and some doctors were crowded around him. His intracranial pressure spiked again. They were not sure if it was the sensory chip in his brain malfunctioning because he had been so stable all night, or whether the swelling was returning. I asked what they are going to do about it and they explained they had already put a call into the neurologist. They were sure it was just the sensor thinking maybe it had dislodged. They didn’t seem worried. I was. I kept watching the pressure go up. And up. Eventually one of the nurses just turned the machine around so I couldn’t see it anymore. It was incredibly high, and all I could do was hold his hand and watch him. I was helpless, and anxious. I wanted them to do something like in Grey’s Anatomy where people move fast, it’s chaotic but they rush to save lives. But that didn’t happen. We were just waiting. And waiting. It seemed like forever. I later wondered if maybe they had already given up on him.

I called my husband to come back and by the time he returned it was after 8am and we were still waiting for the call from the neurology specialist. Shortly after my husband arrived, the team indicating his heart rate was dropping, his eyes were fixed, and pupils blown! And he was not responding. I felt time was in slow motion, and I felt like I was just an observer hearing unknown medical phrases being called out. I felt very dissociated from myself. I didn’t cry. I was in shock trying to process what this meant and trying to process the sad looks on the nurses faces trying to tell me non-verbally ‘we are losing him’. I looked down at my husband who was sitting on the chair behind me. He was starting to cry. I’d never seen him cry before. I felt like everything was in slow motion. I felt nothing, and everything all at the same time. They took Luca for another CT scan and it was clear his brain swelled it had mushroomed over the other side and caused an ischemic stroke that was pretty bad. The swelling had also pushed his brain over to one side and he was not able to breath on his own without the machines.

It felt like hours later, not sure why there was a delay, but he had a second craniectomy mid-morning. Since his heart was slowing down, and he was dying on his own, we were told we could let nature take its course, or consent to the second craniectomy to give us more time, but that it would not change the outcome. We selected to do the second surgery but refused to give up hope. We knew Luca was fighting to stay alive. He was our ITP warrior. Even his child-life specialist ran up to see him to give him a toy before surgery (it was a knight) that he used to play with when he came in for blood draws because ‘he is a fighter’ she said. We put it in his hand.

After the second surgery Luca remained unconscious, and we were not sure if he had any brain function. His pupils were still fixed or blown, his was not taking breaths on his own the machine was breathing for him. Another CT revealed after the surgery very little ‘living’ brain tissue, and we were told that the ‘bad’ brain tissue would take over like gangrene and he would not recover. We spent the next few days (which included Mother’s Day) holding his hand, playing him music, talking to him, having friends and family visit him, his class made him cards, his teachers visited. I slept beside him every night. We pushed another bed beside his so I could sleep beside him. I cried beside him. I didn’t want to leave his side. I didn’t eat for days. I learned how to clean his eyes, how to clean the brown stuff coming out of his mouth that smelled like rot, and I learned how to live with machines constantly beeping. I didn’t want to stop holding his hand.

The nurses in the ICU made some beautiful hand moulds with us as a keepsake, and we even had the opportunity to work with an incredible photographer who took lovely photos of Luca and us holding his hands. It’s hard to look at the photos now because it reminds me of the trauma, but it was nice to be able to do something with him for the last time. My favorite mould is of Luca holding his brothers’ hand.

He wanted to live. He wanted to be treated. He wanted to stay here with us.

On May 15^th following a routine brain death test and a nuclear scan, he was pronounced brain dead and we had to remove him from life support. And hours later, the funeral home came for him. We of course had to arrange all of this the day before. I had very specific criteria – he was not to be placed in a body bag EVER. They treated him with dignity. I will blog about my last moments with him another time.

Life without the boy who made me a mom has never been the same. And to think, on May 6^th he was perfectly ‘normal’. He wanted to live. He wanted to be treated. He wanted to stay here with us.

I will never forget the time I had with my little boy, but I will never stop wishing I had more time with him because he was the light in all our lives.

Note: We will be writing a book to talk about Luca’s life and our experience living with ITP and going through the medical system. This post is just a taste of what Luca has gone thought.