It has been six weeks since our last update. 

Hillary is afraid for her life. 

She remains unwell at home. I’ve documented it formally every three months with her doctors for the last six years. They kept saying she was fine. Hillary is lying beside me right now with another severe headache — a classic PNH symptom which has been repeatedly overlooked. 

We haven’t recovered from the initial shock of finding out that her PNH clones have expanded without medical attention. We keep remembering all the close calls we had last year while trying to be normal. 

I am so grateful to God for not taking her from me. For giving us precious time to intervene. For revealing the truth.

Hillary and I have known how sick she is. That’s why we stayed home against the insistence of doctors, family, and society at large. It never really mattered to us what everyone thought. She wanted to live. Thank you so very much to those who have supported us unconditionally over the years. I am forever indebted. 

A great deal has happened in the last several weeks. We have a deeper understanding of the rare disorder now and of what’s required to make her better. I humbly beg for your understanding and support as we endeavour to improve care for Hillary.  

I am so afraid I’m going to lose her at any minute. 

 

MEDICAL OPINIONS

After being told by CHEO that they’ve never done PNH before and we needed to find help by ourselves, that’s exactly what we did. 

We waited three weeks for our appointment with SickKids in Toronto to discuss the possibility of a curative transplant. But the doctor could not find Hillary’s blood levels in her chart and said they have not yet searched the stem cell registry for matches. It was kinda crushing for our whole family. Steve wept. 

We then immediately initiated the online second opinion process at the Boston Children’s Hospital. My parents paid as a gift to Hillary and she accepted it quickly and graciously. We got to ask eight questions for $1,500 and received a brief written report.

We reached out to the PNHCA to ask for support and was referred to an excellent adult hematologist with extensive experience in PNH at the Montreal General Hospital, but he has never treated a prepubescent child before. We drove out as a family to meet with him and we finally understand PNH now. We stopped by the Oratory to pray, as always. 

We reached out by email to Dr. Neal Young at the National Institute of Health (NIH) in Maryland. He’s known as the actual “Godfather of AA/PNH” and created the ATG process Hillary underwent. 

Can you believe he actually responded to my desperate email? What a guy. His informal medical opinion is worth more than gold. We are applying for a clinical study at the NIH as a matter of priority, but there are none for PNH right now. This is where I ultimately want Hillary treated and I will never, ever stop trying to get there. 

Hearing back from him might have saved Hillary’s life. 

Our sixth opinion was with the St. Justine’s Children’s Hospital in Montreal with their experienced transplant physician who has no experience in PNH. We met with Dr. Duvall six years ago for a second opinion and he recommended a rare approach (cyclosporin only, no ATG) which we heavily considered. We respect him a great deal. 

His insight was also extremely valuable and may set us on a completely different path. 

He has submitted our case to his clonal evolution colleagues in Paris, France who advised us that out of all of the people in France and Canada, Hillary is exceptionally rare. One in 100 million, they said. We meet with Montreal again in two weeks to hear France’s opinion. 

We put out desperate pleas on our social media support groups asking for input and are now connected with several other PNH patients in Canada — thank God. There are only 90 people in Canada living with this, and I need to talk to them. I am so grateful for the free sharing of information from these dedicated mothers who are struggling even more than I am. We are helping each other.   

We requested a referral to the local PNH expert at The Ottawa Hospital, but after repeated calls, we never heard back. We see now that he’s presenting at a medical conference in November for “new PNH treatments” and we are very concerned about who will be treating Hillary and how greatly the opinions differ amongst Hematologists. 

We are not eager to be experimentative.  

Which brings us to the problem which may require political activism. 

 

TREATMENT RECOMMENDATIONS 

CHEO recommended that Hillary immediately get a bone marrow biopsy and aspirate, the meningitis vaccine, and begin a blood thinner with synthetic folic acid pills. 

SickKids said Hillary should up her water and iron intake to avoid an incident. 

The Montreal adult doctor echoed CHEO’s recommendations to commence a blood thinner — as they are now in a beneficial co-follow arrangement for Hillary — but said a biopsy is not advisable.

Boston said Hillary should instead begin the complement inhibitor medicine for PNH instead of a blood thinner. Typically, patients using this second opinion process then proceed to Boston for treatment but, we can’t just leave. We need this fixed in Canada. 

Dr. Neal Young at the NIH said Hillary likely has sub-clinical PNH due to her AA, and that she should commence the complement inhibitor instead of a blood thinner. He also urged caution regarding the meningitis vaccine while her clone is so high due to the possibility of hyper-hemolysis, citing the case of Alexis Lorenze. Please don’t look away. This can’t be ignored. 

We are in for the fight of our lives on this one. They are calling me a conspiracy theorist instead of a critical thinker. I would have nothing to stand on if Dr. Young had not responded. I have reached out for support from the Hospital of California where Alexis was injured. Don’t get me wrong — I want her to get her second meningitis shot, but only when she has a more stable PNH clone percentage. 

I don’t care what ANYone thinks of me getting multiple opinions. I know who I am. Thank you to my high school Chaplain for contacting me last week to remind me.

So far, Dr. Duvall in Montreal is the only physician who has truly heard us. He agreed that Hillary might have been sick since birth. He understood that she is presenting atypically. He believed me that we might be missing something here. And he did something about it. 

He said that proceeding to a transplant (if/when the time comes) without knowing Hillary’s full genetic picture is irresponsible and dangerous. That Hillary may not be a good candidate for a transplant after all. That she could very well have a secondary inherited genetic syndrome which would deeply affect her treatment path. 

That the risk of death is too great right now to even consider a transplant given the unknowns. 

He advised that the genetic tests done by CHEO only covered a small panel based on their subjective opinion of what should be tested – 128 hand-picked genes. We thought her whole genome had been mapped. He is recommending further genetic sequencing for Hillary before further decisions are made regarding her treatment path, provided CHEO will pay. They’ve already denied us PNH tests due to the high cost. 

I will pay. I know there is more to Hillary’s story. 

I reached out to Hillary’s pediatrician for her records since birth. The notes reveal a very sick child since the day we brought her home. Repeated visits with repeated concerns. Macrosomia, neonatal jaundice, ER visit on Day 4 of life after not waking for 20 hours, throat spasms, severe infections, swollen abdomen, unexplained pain — culminating in the doctor’s refusal to grant a blood test the week Hillary almost died. 

We found someone else to listen. Second opinions save lives. Don’t be afraid to seek one for your child. The only thing you have to lose is your kid. 

The social groups all said Hillary is headed for a serious stroke or blood clot. I’ve stopped engaging in these groups as I struggle to maintain my sanity. 

Finally, Artificial Intelligence (AI) offered THE MOST insightful information on all levels. It was the ONLY source which had CONCRETE evidence of others like Hillary. It promoted the watch–and-wait approach — which everyone has agreed to given Hillary’s rare presentation. 

“It” knows a LOT about PNH, unquestionably. This can’t be denied. AI has contributed significantly to Hillary’s wellness. To her survival. 

Here’s a perfect example. 

On June 11, Hillary’s folate was dangerously low at 28. The doctors immediately prescribed synthetic folic acid pills with a blood thinner. I always check medications with AI for possible contraindications.

Studies demonstrate that if you have a specific MTHFR gene mutation, synthetic folic acid builds up in your bloodstream and can cause major blood clotting issues. Hillary already has a somatic mutation of her DNA from this PNH clone. She has not been tested for this MTHFR mutation which affects folate absorption. 

I inquired about the use of methylfolate+B9 drops instead. The doctors say that methylfolate is not available through the pharmacy so they can’t prescribe it.

Ummmmmmmmmm. This is wrong. 

I’ve been giving Hillary the methylfolate+B9 drops instead (from Amazon) and it immediately brought her folate level within range. I will seek private testing of the MTHFR gene mutation if I have to to bring this issue forward with confidence. 

But, the rabbit hole goes way deeper on this issue. It’s significant and worth the mention, as bone marrow can’t function without folate. 

On June 20, Hillary’s folate was flagged as too low at 28 nmol/L.
The range said it needed to be over >37.9 nmol/L.
I gave her the drops. 

On July 11, Hillary’s folate was flagged as too high at 34.5 nmol/L. The drops worked.
But, the range now said it needed to be over >17.8 nmol/L. 

The doctor called to say stop the synthetic pills since her folate is now normal, but….. the range clearly changed? So… she was never actually low in the first place? Are we harming her by giving her more???

We pressed the issue. We needed to understand. Get a load of this, you guys. 

The testing range for folate changes from week-to-week BASED ON THE NUMBER OF PEOPLE GETTING TESTED in THAT lab. Imagine…testing on a curve. The doctors apologized and said someone is doing their PhD on this issue now so it should improve soon, but for now, just pump Hillary full of shit until they figure it out.

My heart aches with rage. 

 

TREATMENT PATH OPTIONS

The three hospitals in the USA said Hillary should commence the complement inhibitor for PNH instead of a blood thinner. 

The three hospitals in Canada say that Hillary does not qualify for the inhibitor, so she should start a blood thinner instead to reduce the chance of death until she qualifies for the inhibitor. 

In order to qualify for the inhibitor in Canada, Hillary must meet the following criteria: 

1. PNH clone size over 10% (hers grew to 72%, we were told it was 9%)
2. Elevated liver LDH over 1.5 the limit of normal (Hillary’s grew to 421, qualifying her)
3. Evidence of organ damage — anemia requiring blood transfusions, blood clot, stroke, pulmonary insufficiency, renal insufficiency, recurrent abdominal pain, or difficulty swallowing which requires medical intervention
4. Other considerations such as extreme fatigue 

Hillary qualifies in all four categories — they just aren’t assessing her properly. 

She had that unexplained ER visit on Easter. Since CHEO didn’t know she had PNH, they didn’t do ANY of the proper tests to check for a blood clot, making Hillary ineligible for the medicine she needs. All they wanted was the viral nasal swab. 

Hillary has severe abdominal pain every single day of her life. It is ALWAYS dismissed by her doctors. They think she just needs to lose a couple pounds. She does, but that’s not the cause of the pain. Her ultrasounds say her abdomen, liver, and spleen are normal. She’s been told not to exercise vigorously as it can exacerbate her red blood cell destruction. 

Hillary has had throat spasms since birth. At our last visit with the CHEO ENT, Hillary’s symptoms were dismissed as a “mental habit.” The proper diagnostics have not yet been conducted, and Hillary waits in the balance….. wondering if she will survive this.  

Someone suggested Hillary’s headaches may be due to stress at home. That hit me like a ton of bricks, and I’ve now lost all faith in the supports available to us. The two most common documented symptoms of PNH are abdominal pain and severe headaches – how could someone with knowledge of PNH suggest otherwise?

The Neurologist suggested Botox for her with no consideration of the possible side-effects related to PNH. I keep challenging the doctors with respect, but they always win. The last doctor we met said she “didn’t want to put her medical license on the line” by supporting us with documentation. 

We are very clearly on our own.

We are being kicked around like a ball and no one wants us in their court. 

We are essentially lying here waiting for her to die before she can get treatment. 

In a nutshell, the drug is too expensive at 700K per year that they have made the qualifying criteria too stringent. A Ontario doctor (only) can apply for compassionate use of the drug, but CHEO hasn’t done it yet. We go in again this week to beg with our hands in the prayer position. 

The NIH suggested a subcutaneous shot to be done at home for Hillary’s safety instead of the in-hospital, several-hour infusion with no infusion centre at CHEO, but that subcutaneous drug is only in the clinical stages for 13 year olds. Hillary is only 12. 

I’ve asked to speak to the Head of Hematology seven times in writing but have still not been connected. I’ve written to the CHEO President and Chairperson and won’t even receive the courtesy of a reply. Alex is gone. He was a man of action, and I need him back. He never ignored my frantic pleas. 

I can’t believe MPP George Darouze is going to determine Hillary’s fate. He’s the politician we need to lobby to have the qualifying criteria changed, when the time comes. I have to come up with a winning strategy, and I can’t fail. Just tell me what to chain myself to. I’m ready. 

 

EXPLANATION OF PNH 

What we thought we knew about PNH was wrong. 

PNH is an auto-immune mediated stem cell disorder of the complement system caused by a somatic mutation of the PIGA gene. It makes blood cells deficient in protective surface proteins (CD55, CD59), which leads to hemolysis and thrombosis risk. 

The PNH is stripping Hillary’s red blood cells of the critical glycosylphosphatidylinositol (GPI) protein. Without this protein protecting her red blood cells, her complement system is destroying them – causing intravascular hemolysis (red blood cell destruction). 

The hemolysis over time has dumped a great deal of byproduct into her bloodstream, putting her at great risk for blood clots and stroke. Hence the recommendation for the blood thinner. 

Still, the presence of a PNH clone in the AA context is generally favourable — over the alternative of cancer (MDS). It indicates that at least some stem cells may repopulate.  

Additionally, AA/PNH overlap responds better to immunosuppressive therapy (over a transplant) if a clone was present at diagnosis, and we feel we made the right decision regarding her treatment path. Dr. Duvall said there are no wrong decisions since she’s still alive, and boy, did it help hearing that. 

But….all doctors agree that clone reversal is highly unlikely, and that Hillary will only get sicker. The complement inhibitor would stop this from happening, and restore Hillary’s health. But, she can’t have it. 

Why are we doing this to this child, just because she’s the first to present this way? 

Cause of money?

All of this is actually making me sick. I have become physically ill this past week and my parents are supporting me heavily at home. I am not depressed. I don’t take any medications. I haven’t had that glass of wine yet, and probably never will. It’s something else. Please don’t let anyone ever say this was too much for me. It’s not. 

Saving Hillary is all I want to do.

 

HILLARY’S REALITY

Since we have eliminated the documented PNH triggers, Hillary is feeling much better lately. Yesterday, she finally said “this is the best day of my life” again. She used to say it almost every day, but I haven’t heard it in two whole months. Being told she is in mortal danger repeatedly was a very depressing way to start the summer. Hillary has many suggestions on how to improve her care.

Hillary is very excited to start Grade 7 in virtual school. Many of her Ottawa friends are returning also and….I just never have to worry about her happiness from September to June. Virtual school isn’t for everyone, but it’s definitely for her. 

Just listen to her radio interview of last week to see how defensive she is. She is so tired of people pushing her to be normal. Trying to convince her she’s not sick. She has advised me that she will now remove herself from such discussions to preserve her mental health. I don’t blame her. 

But please, don’t cry for Hillary. 

She has led a rich, full life. She’s been to DisneyLand and rode Space Mountain. She’s enjoyed summer camps and swimming lessons. Fished in the lake. Camped under the stars. 

She has THE most diverse friend group of girls and boys in Ottawa, and they meet up and….she’s a happy, joyful, child. You won’t catch her feeling sorry for herself. Like many sick children, she is resilient, growing through the cracks. 

She plans on returning to in-person school for Grade 9 and wants to try out for the volleyball team and be the lead in the school play. She hopes it’s HairSpray. She can hit the angel note and NEVER, EVER, STOPS SINGING. 

Hillary is praying for her miracle. I will take her to the Grotto in Vanier this week to put her name on the prayer wall. I need to get her First Communion done, now.

After all my searching and doubting, I’ve come to the conclusion that this life experience is very much indeed a spiritual one. I’ve witnessed too many synchronicities to believe it’s all random happenstance. I can see heaven in their eyes while I’m trapped in hell. We feel divinity all around us, but no matter how hard we try to stay positive, this evil lurks, lusting after her blood. 

I am in a constant state of prayer.
I am putting all my Faith in the Lord for this one.
There is no one else to trust right now. 

 

THE TIP OF THE SPEAR

So, everyone agrees Hillary is just too healthy to be this sick. 

We must wait until October for the next blood/PNH test. If her clone has grown, we will begin the blood thinner and fight for the complement inhibitor. If it has fallen again, we keep pushing for the miracle she deserves — spontaneous remission. It happened for a little girl in Japan – why can’t we hope for the same thing?

A retrospective study consisting of 80 patients, only 12 PNH patients achieved clinical remission. I’ll take those odds. Her doctors say they’re never seen a PNH clone decrease by such a high amount on its own — down 14% in one year — so there is reason to have great hope. 

We are approaching this trepidatiously. Calmly. With strategy. 

We need to make the right decisions regarding Hillary’s novel care. She may be the first child to have PNH at CHEO, but she won’t be the last. We hope this experience helps improve testing protocols at CHEO for children with AA. 

Hillary is one of the youngest PNH patients in the world. 

She’s on the perilous front-line, taking on a difficult, dangerous, unknown fight — against herself. SHE’s the one who suffers the consequences of her team’s failures. SHE’s the one facing the inherent risks. SHE’s the one fighting for her life. 

SHE is leading this mission. 

Hillary proudly represents the “tip of the spear” — a military idiom signifying the first to engage, take risks, and face dangerous challenges — rooted in the mindset that her bone marrow failure is an enemy to be defeated. 

She has made first contact with her enemy, this PNH, and must now pierce the veil to fight for the medicine she deserves so she can win – so she can survive. She is asking for continued protection to push forward. I am standing right beside her with my shield, ready to dive in front. 

She won’t win this war unless she fights with everything she’s got.
She WANTS to fight. 
She is fair and decent and well-deserving of a victory — not a Purple Heart. 

When the time comes to advance further — to lobby politicians and beg for her life — please join us on the battlefield, behind her, ready for combat.

We can’t lose. 

#StartWithHillary