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Mackenzy Jo's Quest, Monroe, MI (2025)

08/30/2025

✨ By God’s grace, yesterday we received the BEST news: Mackenzy’s biopsy showed NO cancer and no indication that it could develop into cancer. 🙌💖

We are clinging to this verse in gratitude:
“I will restore you to health and heal your wounds, declares the Lord.” – Jeremiah 30:17

Tomorrow marks the last day of August—and the last day of Autoinflammatory Awareness Month. The picture below shows Mackenzy surrounded by just 3 years’ worth of the shots she’s taken to treat her autoinflammatory disease, CAPS (Cryopyrin Associated Periodic Syndrome).

💡 What to know about Systemic Autoinflammatory Diseases (SAIDs):
• There are 50+ known types, with new ones still being discovered.
• They are different from autoimmune diseases:
o Autoinflammatory = overactive immune system you’re born with (innate)
o Autoimmune = overactive immune system you develop throughout life (acquired)
• Most have a genetic root, but some are clinical (symptoms without a known gene) or mosaic (only part of the DNA carries the mutation, like Mackenzy’s case).
• Mackenzy was misdiagnosed 12 times (including 2 terminal conditions), saw doctors in 3 states, and endured 542 days of daily fevers before her correct diagnosis.
• CAPS is considered a 1 in a million diagnosis—not because it’s truly that rare, but because too many doctors don’t yet recognize autoinflammatory diseases.
• Common factors across most AIDs:
1️⃣ Immune system dysregulation
2️⃣ Recurrent inflammation throughout the body
3️⃣ Risk of organ damage if untreated
4️⃣ Significant pain
• Mackenzy’s medicine is an injectable biologic every 4 weeks that costs $17,700 per ml. It suppresses her immune system to protect her body—an incredible blessing, but one that comes with increased risks (like difficulty clearing simple infections and an increased risk of cancer).

📢 We share this not only to celebrate yesterday's answered prayers, but also to spread awareness. Despite the growing number of diagnoses, too many families still face years of confusion, misdiagnosis, and suffering before finding answers.

💬 If you or someone you know has unexplained fevers, rashes, or joint pain, please reach out or pass along my contact information. I’ve gained a lot of knowledge through our journey, and just as others helped us, I consider it an honor to walk alongside other families and help them gain the resources they need.
Together, we can spread awareness, support research, and celebrate God’s blessings in the victories along the way. 🧡

06/30/2025

☀️UPDATE: She is out of the MRI- very sleepy, enjoying some iHop then home for a nap. THANK YOU for all the prayers!

It’s Brain and Orbital MRI/MRA day! 🧠👁️

Lots of prayers appreciated for our Mackenzy Jo as she tries her best to make it through this 1 hour MRI/MRA (unsedated and while being nauseous 🤢 from nerves) so that we get stellar images for the surgeon to remove all that needs to be removed. Also prayers for her medical team to have patience with her as she is beyond nervous today.

06/03/2025

Mackenzy and her current medical mystery.

Being parents of a child with a rare disease has shaped us in ways that sometimes we don’t even realize.

When other parents take their children to doctor appointments and the doctor says
“Well it’s ______ of course!” - they have the luxury of believing it.

Dave and I do not have that luxury. We have been traumatized to ask “why” and “how” about everything. We have been traumatized to challenge every medical opinion and have learned how to read dozens of medical literatures on each thing that it could be.

Other parents can accept that when their doctors hear hoof beats they think horses.
In our experience- it’s almost never horses- it’s zebras.

1 week ago today at Mackenzy’s yearly eye exam her doctor discovered a growth in her lower eye. After some very concerned doctors- today we were expedited to Kellogg Eye center.

They heard hoof beats.
They thought horses.
They didn’t take kindly to our questions about- if they had considered Zebras.

In a flashback to 2018 we’re reaching out to family and friends with Mackenzy’s story.

We know it only takes one set of the right eyes to make the right diagnosis.
And it’s not that we absolutely disagree with the Kellogg eye diagnosis- but we have doubts. And in all of our experiences our doubts have not failed us. They have helped us feel confident in her diagnosis and her treatments. They have helped us to accept, when needed, that even herds of zebras house a horse every now and then.

Please see the photo attached with this post. Please feel free to share it, but please tag us if you do so that we can benefit from any information offered.

Some information that may be helpful when making an educated guess:
- Mackenzy is 7 years old, will be 8 in July
- She is on 150 mg of Ilaris every 4 weeks and is thus considered medically immunosuppressed
- She has Cryopyrin Associated Periodic Syndrome (auto inflammatory disease)
- The mass is in her lower left eye- on the sclera/conjunctiva not the lid. You have to pull down the lid and have her look up to see it
- She has no pain associated with it, and we didn’t know it existed until they found it on exam
- She did report seeing flashes of light and floaters
- No other inflammation (internally or externally) noted
- The image is from Slit Lamp Photography
- I will also include a collage of photos we’ve taken daily for the last 6 days
Looking for recommendations for a spectacular pediatric ocular oncologist or pediatric ophthalmologist. Willing to travel within Michigan or Ohio.

Thank you in advance.

07/04/2023

Mackenzy Jo is 6 today!

A very short CAPS update- the Ilaris is still our miracle drug 🩷

As Mackenzy grows it’s an ever evolving process to figure out her best dosage- so she still gets fevers and flares a few days before her dosage is due.

In August we’ll take our yearly trip to Cincinnati to see her Rheumatologist.

Mackenzy is hoping she has made enough progress with her SMO’s and Physical Therapy to correct her hypermobility in her knees and her toe walking (both side effects of autoinflammatory diseases) to get cleared to participate in Ballet- she has been so patient in waiting!

Overall, our CAPS girl is Thriving! And we could not be more blessed 🩷

12/07/2020

December 2020 Update:
Mackenzy Jo is doing fantastic! With her Ilaris injection every 6 weeks she is only experiencing fevers a few days before her dose is due- and we’re pretty sure that’ll resolve when we adjust her dosage for her new weight class, which will be done next injection next week.

In other news, she’s very excited because she will be welcoming twin siblings into our family this summer. She practices her big sister doll diapering skills daily and has lovingly nicknamed the twins Timone and Pumbaa ❤️❤️

04/19/2020

Hi Everyone! How is everyone doing? Healthy I hope!

We haven’t shared anything about Mackenzy Jo or her CAPS in a while. We thought it was best to get a few treatments under our belts before we made any declaration about progress.

Mackenzy Jo just had her 2nd injection of Ilaris, 8 weeks after her first dose. So she’s now been on Ilaris since February 11th, 2020.

This week we had her follow up appointment with her pediatric rheumatologist from Cincinnati Children’s to discuss progress and symptoms. Its been a scary time to have a toddler on a biologic, but I’m happy to say that *knock on wood* we’re all hunkered down and Covid-free here in Michigan!

In the days prior to the appointment (which happened via phone because of Covid) Dave and I talked a lot about how we feel like Mackenzy is handling her CAPS and how the Ilaris is doing. It sounds funny, but for a solid year or so (before diagnosis happened) we talked multiple times a day about symptoms, plan of actions, the specialists, the hospitals. But now, after diagnosis and starting treatment- we rarely talk about it.

Anyways, this was our consensus, and the information we shared with her doctor:
Mackenzy Jo’s fevers are down to occurring about 50% of her days (approx. 4 days a week). Since starting the Ilaris she has only had two “flares” of higher than 101 degrees (before Ilaris this would occur every 5-7 days like clockwork). She has only complained on two occasions that her eyes hurt (a symptom that always occurred with her migraines), has only complained once of her head hurting, and has only had 2-3 instances of red/hot feet/hands. She’s had no ‘side effects’.

Her rheumatologist was pleased with her progress, as are we! We finally feel like “this is it” and that we’re on the right path to an amazing future for our kiddo.

In going forward, our doctor would like to increase frequency to every 6 weeks instead of 8 to hopefully get the number of fever days to less than 50%, and from now on I’ll be doing her injections. We’ve had a wonderful home health nurse (Amy) do the last two but for ease of our schedules the doctor was in agreement that I can perform the future injections.

In other non-medical news; Mackenzy Jo is thriving! SO talkative and learning new things in front of our eyes. We also adopted a rescue dog at the beginning of the pandemic! Mackenzy Jo is loving having a furry friend. His name is Chilly (named after the snowman from Doc McStuffins).

Thanks for checking in on Mackenzy Jo! We’ll be sure to continue updates on progress, disease research and other autoinflammatory news. As always, I’m more than happy to help any families reach the many resources I’ve gained on our quest for answers, so please don’t hesitate to send me a message!

01/15/2020

🌡Day 481 of Fever 🌡
Hey Everyone! Lots of people have been checking in with us lately asking how Mack’s Quest is going- I want to thank everyone that is still reading, and still asking! I will try to keep this short, but I’m on my laptop so no promises !

We OFFICIALLY have a DIAGNOSIS!

In August 2019 we first visited Dr. Grant Schulert (rheumatology) at Cincinnati Children’s. He’s been our brightest beacon in our whole medical journey. After talking with him a short time he felt pretty confident he knew what Mack had- but still wanted genetic testing done. We waited what felt like forever for the genetic test results- which did NOT show what we were looking for, and instead showed some pretty random benign carrier mutations. I’d be lying if I said that our results didn’t shatter me- because I really felt like “this was it” for her.

At the end of November Mack had ear tubes placed, and tonsils/adenoids removed. The hope was that the tubes would decrease the number of ear infections (which is what triggered all the fevers in the 1st place)- but unfortunately that has not happened. In 5 weeks she has had 3 ear infections 

In December we took her off of all of her medications and decided to give her system a little break. We went back to Cincinnati to discuss updated symptoms and our genetic results. It was explained to us that to test positive on their specific research test that the mutation would have to be found in more than 20% of her genes (and would have had to occur before the sperm/egg met). But when the mutation forms afterwards it can be in less than 20% of genes and thus return a ‘negative’ result without ACTUALLY being negative.

Given her clinical presentation he whole heartedly believed that “we finally had it”-but he wanted to rule out 1 more thing; a common variable immune deficiency. Since her IgG had been chronically low and she had not shown an adequate immune response to her vaccinations. This testing required her to be over 2.5 years old and 4-6 weeks after a vaccine challenge. We had her bloodwork drawn the first week of January and we met with our new immunologist yesterday.

She has been cleared of any immunological reasons for her continuous symptoms! She continues to struggle with repetitive ear infections and overall sinus ‘gunk’ and issues. But our immunologist is hoping that A) The main diagnosis treatment will help balance out her immune system or B)The main diagnosis treatment will tell us what fevers are “real” infections and which ones are periodic fever flare.

***And the Diagnosis is….Cryopyrin Associated Periodic Syndrome (CAPS)***

I wrote about it in my last update too, but now it’s actually listed in her diagnosis’s. We submitted today for preauthorization for Ilaris, a biologic injectable medication that she will get every 2 months to start (schedule and frequency will have to sorted out based on symptom management). She will likely need this medication for the rest of her life, but because the gene is in less than 20% of her genes there is a small chance that she could grow out of her symptoms.

A Very Short symptom Update (because this update is getting way too long):
*She has not had a neurological-type fall since September 2019
*She still has daily fevers reaching 101, with a higher fever of 102-104+ every 5-7 days
*She is off of her hemiplegic migraine medications (and we have not seen an increase in symptoms since stopping); the hope is that Ilaris will help resolve many of her migraines/head pain (which she still complains of)
*She regularly complains of pain on the bottom of her feet (especially during her 102+ 🌡 degree days- but with no obvious injuries
*She is Thriving: she’s in preschool, daytime potty trained and overall, just a happy sassy 2 year old despite her constant sickness patterns. She’s one hell of a tough cookie 💪🍪

For more information about CAPS and other autoinflammatory diseases (autoinflammatory and autoimmune are not the same thing) please visit:
The Autoinflammatory Alliance:

http://www.autoinflammatory.org/index.php

http://www.autoinflammatory.org/downloads/comparative_chart_front.pdf

Thank you for your continued support in Mackenzy Jo’s Quest and reading her updates-Although we now have a diagnosis her Story is far from finished!! Please take a moment to read about a few auto-inflammatory diseases- who knows YOU may be the next person to spot a Facebook plea for answers, like so many I posted! I’m nowhere near an expert, but if you run across any of those “my kid has had a fever for XX amount of days” posts, please feel free to tag me so I can pay forward some of the knowledge I’ve gained in our journey 💛

Mackenzy Jo's Quest

08/30/2025

06/30/2025

06/03/2025

07/04/2023

12/07/2020

04/19/2020

01/15/2020

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