Aaron Blocker

31/07/2024

Yesterday I had someone reach out asking if a podcast episode from a medical mystery podcast was about me because the title and info sounded like my story.

I said I wasn’t sure, I’ve never heard of the podcast but would listen to the episode.

Well the whole episode was about my medical mystery story of being diagnosed with Hypophosphatasia… with some creative liberties taken.

They used my full name, my wife’s name and made up some “conversations” I supposedly had with my wife to enhance the story. But mentioned my college and degrees and state I’m in. Got some details and dates wrong surrounding my diagnosis and hip replacements.

They clearly knew of me and could’ve contacted me but never did.

I don’t mind my story being shared. I think my rare disease diagnosis story is important because it brings awareness and hopefully educates people, but I don’t appreciate it being done in this way with no contact to me, using my full name and making up conversations.

I’ve not reached out yet as I’m not sure if it’ll do anything but crafting a message.

Just don’t do this.

TLDR: Someone took my story and made a podcast of it and took creative liberties with made up conversations with my wife while using my full name, college details etc.

29/07/2024

Coming up this Thursday August 1st at 6:45PM EST we will be debunking some common myths and misconceptions in IBD!

Extremely excited to work with my amazing friends Amber ( ) and Dr. Nandi () who are incredible. Amber is an amazing advocate and Dr. Nandi is an IBD physician who are both passionate about helping people understand IBD and debunking the myths we see in the community.

Set a reminder for this amazing live!

10/07/2024

Let’s talk Biosimilars.

First let me be clear. I do not agree with forced switching. Period.

Forced switching is when your insurance company requires you to go from your reference biologic (Humira, Remicade etc) to the biosimilar.

But unfortunately it’s what is happening right now.

I was switched last year for a period of 6 months. I went back to the reference product only because my insurance changed and new insurance hasn’t implemented biosimilars.

I had no issues on the biosimilar. I stayed in remission and when I went back to Humira the reference product I am still doing well. I have no antibodies and drug levels are good.

So let’s talk about biosimilars.

A biosimilar is not a generic to your biologic but it can be thought of that way to help us grasp the concept.

It’s extremely similar to the reference biologic and for a biosimilar to be approved to go to market it has to be proven to work just as well (within a small differential range) as the reference product, be just as safe etc. There are no clinically meaningful differences between the biosimilar and biologic.

Biosimilars are not new to the world. They’ve been in Europe for years, I believe in 2006 the first was approved, the first Humiras biosimilar was in 2017. So they’ve been around and we have a lot of data.

What does the data say?

Well as I mentioned before, for a biosimilar to be FDA approved it has have no clinically meaningful differences than the reference product, meaning it has to work just as well and be just as safe.

That’s what the data shows. These biosimilars work just as well.

What about switching from the reference product to the Biosimilar?

The data confirms that switching is fine and patients do just as well. That switching does not affect efficacy.

I know this may not help and people are mad, rightly so. But since it’s the world we are in, I think it’s important to still trust the science that biosimilars are safe and effective and that hopefully if a switch occurs it is seamless.

01/07/2024

Rare Diseases in Mississippi:

It’s estimated that over 300,000 people in Mississippi live with a rare disease in our state. Those with the rarest diseases struggle to find a diagnosis, the right care, or someone to talk to about their disease.

Being diagnosed with any disease is challenging enough, but having an extremely rare disease adds another layer of difficulty. This is further compounded by the search for a doctor who specializes in treating the disease, often requiring patients to seek care outside of the state. Finding support beyond medical care and connecting with a community can also be challenging.

It shouldn’t be this difficult for any patient, especially those in the state I live in. That’s why I’m excited about the Rare Disease Advisory Council (RDAC) bill that was passed in Mississippi earlier this year and will soon go into effect.

The RDAC will help address the unmet needs of rare disease patients in our state. I hope to see the following addressed:

- Conduct an in-depth analysis of the unmet needs of rare disease patients in our state and develop a plan to address those needs.
- Collaborate with lawmakers to implement policies that benefit rare disease patients.
- Educate the broader medical community and the state on the impact of rare diseases and the importance of supporting these patients.

There is much more that can be done, but I believe rare disease patients in our state deserve a voice in our state government and access to the care they need without having to travel long distances and bear additional burdens from their diseases.

Tate Reeves
University of Mississippi Medical Center
National Organization for Rare Disorders, Inc. (NORD)

27/06/2024

True story. Was just the other day.

25/06/2024

Zymfentra the Injectable Infliximab (Remicade):

A few months ago I had a chance to get my hands on the auto-injector used for the new Injectable Remicade.

For those who don’t know Zymfentra was approved last year to treat IBD, which is the first and currently only approved injectable form of Infliximab.

After an IV induction phase you move into maintenance injections every 2 weeks.

As someone who used to be on Remicade, I would’ve loved this. The convenience of self-injecting at home is something I am a huge fan of and wish this was an option when I was on Remicade.

Has anyone been on Zymfentra yet? Let me know how it is if so!

09/06/2024

Did researchers uncover a possible cause of IBD?

If you haven’t heard there was a pretty significant research paper that came out this week about Inflammatory Bowel Disease (IBD).

The paper was really incredible and the science and methodology was honestly some of the best and exciting that I’ve read in a while.

So what did they find? They found a gene called ETS2 that is essential for inflammatory functions in macrophages (a type of immune cell that’s very important)

When they looked at the gene and its function it made the macrophages look and act just like the inflammatory cells and processes that we see in inflammatory bowel disease!

Which is huge. This gene “turned on” things like TNF and IL23 which are already targeted by current drugs that are used to treat IBD and other inflammatory diseases.

This specific genetic pathway they found was enriched in people with IBD basically meaning it’s very active in people who have IBD.

What’s even cooler? There currently are drugs on the market that inhibit or “turn down” the effect of ETS2!

However, currently those drugs cannot be used long term. They are used in certain cancers and damage other tissues so right now they are not something to use in IBD.

But!! This means we can now focus on targeting this pathway and hopefully make drugs that can be used long term in IBD patients and treat the disease in a new way and offer hope for patients who aren’t responding to current therapies.

This was one of the most exciting papers I’ve read in a while and I can’t wait to see where it goes. It may fundamentally change the way we think about IBD and other immune mediated diseases.

05/06/2024

I’ve been trying to find the words to say. Not that there aren’t any, it’s just hard to get them out.

Last night, my Meme, my grandmother who adopted me, took her last breath in this world. She had been sick, and while part of me is thankful she’s not hurting anymore, the other part of me is broken.

I would not be where I am today if she hadn’t made the decision to adopt and raise me and my sisters. Meme gave us a home filled with love and security, and for that, I am eternally grateful.

She was there when I got sick and diagnosed with Crohn’s disease. She would put all my meds in containers for me, stay at the hospital with me and went to my infusions. She helped me make some of the toughest decisions about my health early on.

We may not have agreed on everything or spent as much time together over the last year as either of us would’ve liked, but I know she loved me and she knows I loved her. Her love was unwavering and unconditional.

It’s never easy saying goodbye, especially to your mom. I hope that I can show the kind of unconditional love that she showed me and those around her.

25/05/2024

DDW Photo Dump: Being at DDW was one of the highlights so far of 2024.

It’s been 5 years since I’ve been to the conference and so much has happened in treatment of IBD in the last 5 years and that was evident at this conference.

It’s so important for patients to be at these conferences because we get to share from our perspectives what is happening in terms of treatment updates and new therapies.

Not only that, us patients are why these conferences and the work exists so to be there as a reminder of that is very important.

From new treatments, new ways to optimize those treatments and the focus on diet and mental health in IBD specifically were just a few of the highlights.

As a patient living with Crohn’s Disease it brings me so much hope to see the work being done to further care for IBD patients and to give us a chance at fighting this disease.

I have so much more to share on the data but for now I hope this encourages anyone living with these diseases because there is so much happening and the landscape of IBD treatment is changing for the better.

It was also nice to see friends and colleagues that I haven’t seen in several years per the photos :)

19/05/2024

Digestive Disease Week Day 1 Photo Dump: Was so great to catch up with old friends and colleagues!

Spent a lot of the day in sessions about and I’m excited to get some of that information out to the community.

14/05/2024

New YouTube Video: Vitamin B6, Toxicity and Hypophosphatasia. Are Hypophosphatasia patients with high B6 living with B6 toxicity?

In this video I go over what the current research says.

Vitamin B6 Toxicity and Hypophosphatasia: Are we B6 Toxic?!

Welcome to my channel! Here, you’ll find videos about my life with Crohn’s Disease and Hypophosphatasia, support and to see what it’s like to try and live be...

10/05/2024

New YouTube Video: Vitamin B6 Toxicity and Hypophosphatasia. What does the current research say? Are we living in a state of vitamin B6 toxicity?

Welcome to my channel! Here, you’ll find videos about my life with Crohn’s Disease and Hypophosphatasia, support and to see what it’s like to try and live be...

20/04/2024

With the recent passing of the bill here in Mississippi that creates a Rare Disease Advisory Council I wanted to share what that is and why it’s important.

Rare disease advisory councils are important because they:

1. Bring together experts to address the unique challenges of rare diseases.
2. Raise awareness among policymakers and the public.
3. Advocate for improved access to healthcare and support services.
4. Influence research priorities and funding allocations.
5. Ensure that the voices of rare disease patients are heard in decision-making processes.

17/04/2024

Thank you National Organization for Rare Disorders, Inc. (NORD)for quoting me in this article about the enactment of Mississippis RDAC Bill!

Since NORD launched Project RDAC in 2020, Mississippi becomes the 28th state to establish an RDAC to better focus public policy efforts for people living with

16/04/2024

Today I had the pleasure of attending the signing of the bill that creates a Rare Disease Advisory Council here in Mississippi!

This is something I have been advocating for over the last 4 years and to finally see it happen is truly incredible.

I cannot wait to see the impact this has for rare disease patients in Mississippi.

16/04/2024

Today I got to participate in the ceremonial signing of Senate Bill 2156, which creates a Rare Disease Advisory Council here in Mississippi!

This is something I have been advocating for over the past 4 years and it finally has happened.

Representing the Hypophosphatasia and rare disease community is a huge honor.

Being part of something that is truly monumental for rare disease patients is so humbling, especially when you’ve advocated for and worked closely with and know the need in this state for it.

A huge day. A major win for patients. I’m just grateful.

11/04/2024

Speaking in Boston.

Earlier this week I spent two days in Boston sharing with two different teams at Alexion pharmaceuticals about what it’s like to live with Hypophosphatasia, my diagnosis story, my background in science, breaking down scientific barriers and my passion for advocacy.

I’ve shared my story on many occasions but it’s always special to share it with people who are actively working to better the lives of patients living with this disease.

Alexion is a company that has put patients at the forefront of what they do and to be able to share with them how Hypophosphatasia has affected me was really incredible.

09/04/2024

Exciting news for Mississippi Rare Disease Patients!

Yesterday our Governor signed SB 2156 which is a law that creates a Rare Disease Advisory Council (RDAC) here in Mississippi!

I have been working for several years trying to help get an RDAC passed in our state. I’ve reached out to state house and senate representatives, the governor and worked with to get this passed and up until this point the bills have died in the chamber.

This really is a monumental moment in our state because it will put together a council that includes rare disease patients, physicians, representatives from pharma and health insurance to help shape legislative policy, educate providers on rare diseases and increase access to care.

I cannot wait to see the impact this will have for rare disease patients in Mississippi!

08/04/2024

Best I could get of the eclipse in Boston!

08/04/2024

Over the last couple of years I’ve been working on getting a Rare Disease Advisory Council (RDAC) to be created in Mississippi. I’ve worked with NORD to reach out to our state representatives and provide any input about life with rare diseases and why the council is important last

It requires a bill to be passed in the House and Senate and signed by our governor.

About a week ago the bill finally passed both chambers! Tate Reeves has until today to either sign it, veto it or do nothing. If he signs it or does nothing it becomes Law.

Every year the bills have died in the chamber so this is a huge win to even have it passed!

RDACs are important because they help shape legislatively policy to help all rare disease patients in our state. Not only that they can help educate providers about rare diseases and work on things like newborn screening and access to care.

Hoping today we get a signature from the governor and get this council created and working for rare disease patients here in our state!

06/04/2024

Life lately.

These kids keep us on our toes.

14/03/2024

It’s World Kidney Day! Did you know that conditions like Hypophosphatasia (HPP) can impact kidney health?

In HPP, low levels of Alkaline Phosphatase (ALP) hinder the kidneys’ ability to flush out minerals, potentially leading to kidney disorders. Additionally, elevated calcium levels in HPP patients can lead to Nephrocalcinosis, where calcium deposits on the kidneys can cause damage.

Today, let’s raise awareness about the significance of kidney health, especially for those with conditions that may indirectly affect kidney function.

29/02/2024

It’s Rare Disease Day!

Living with a rare disease is one of the most challenging things I’ve had to deal with.

From the 25 years it took to get a diagnosis. To the 25 surgeries I’ve had. Having to go out of state for care and the 6 weekly injections I do.

So here are some facts about rare diseases and the community that I’m part of and that this day is about.

27/02/2024

Rare Disease #3 with No Approved Treatment: Costello Syndrome

Today I want to share about Costello Syndrome, a rare diseases with no treatment.

“Costello syndrome is a rare disorder that affects many parts of the body. This condition is characterized by delayed development, loose folds of skin (which are especially noticeable on the hands and feet), unusually flexible joints, heart problems, short stature, and distinctive facial features.

Children with Costello syndrome are often delayed in reaching developmental milestones, such as speaking, sitting, and walking. Affected individuals may also have intellectual disabilities that can vary in severity.

Heart problems are common, including an abnormal heartbeat (arrhythmia), structural heart defects, and a type of heart disease that enlarges and weakens the heart muscle (hypertrophic cardiomyopathy). Neurological problems in people with Costello syndrome include seizures, weak muscle tone (hypotonia), and a structural abnormality of the brain called a Chiari I malformation. Costello syndrome can cause vision problems, such as nearsightedness (myopia), farsightedness (hyperopia), or eyes that do not point in the same direction (strabismus). Hearing loss may also occur.“

As we approach Rare Disease Day it’s important to remember 95% of all genetic diseases have no treatment. Diseases like Costello Syndrome. I hope you’ll join me in raising awareness for all rare diseases on February 29th.

The information about Costello syndrome can be found here: https://medlineplus.gov/genetics/condition/costello-syndrome/ #:~:text=This%20condition%20is%20characterized%20by,stature%2C%20and%20distinctive%20facial%20features.

26/02/2024

As we enter Rare Disease Week I wanted to talk about the rare disease I live with: Hypophosphatasia (HPP).

This disease has caused me to have 25 surgeries, 4 of them being hip replacements and my most recent surgery was in November to reconstruct my MCL. I’ve broken more bones than I can remember and torn more muscles/tendons/ligaments than anyone ever should.

I take six injections every single week to help slow the progression of my disease

“Hypophosphatasia is a rare inherited disorder characterized by defective bone and teeth mineralization, and deficiency of serum and bone alkaline phosphatase activity. The symptoms are highly variable in their clinical expression, which ranges from stillbirth without mineralized bone to early loss of teeth without bone symptoms. The disease is due to mutations in the liver/bone/kidney alkaline phosphatase gene (ALPL; OMIM # 171760) encoding the tissue-nonspecific alkaline phosphatase (TNAP)”

HPP causes defective mineralization of the bones where important minerals like calcium, phosphate and magnesium aren’t able to absorb into the bones allowing them to form and be strong. These mineral collect extracellularly and can be deposited on other organs such as the kidney.

I’m grateful that my rare disease has a treatment, but most do not.

While Rare Disease Month/Week/Day isn’t about just my rare disease it’s about the whole community I wanted to share why I am raising awareness and why this means so much to me to uplift the rare disease community as a whole.

I hope you’ll share your rare disease story, or if not affected by a rare disease in some way I hope you’ll listen and help advocate for those with rare diseases.

22/02/2024

Sanfilippo Syndrome or Mucopolysaccharidosis type III (MPSIII)

Today I want to highlight Sanfilippo Syndrome or MPSIII as a rare disease with no approved treatment.

Sanfilippo is a devastating disease for children affected and of course their families. It unfortunately is a terminal disease. A little about the disease:

“Mucopolysaccharidosis type III (MPS III), also known as Sanfilippo syndrome, is a disorder that primarily affects the brain and spinal cord (central nervous system). It is characterized by deterioration of neurological function (neurodegeneration), resulting in many of the features of the condition. Other body systems can also be involved, although the physical features are usually mild in the early stages.

People with MPS III generally do not display any features of the condition at birth, but they begin to show signs and symptoms of the disorder during early childhood. Early signs and symptoms of MPS III can include frequent ear and throat infections or bowel problems, though most common are mild developmental delay or delayed speech. Behavioral problems often worsen with affected children becoming restless, hyperactive, destructive, anxious, impulsive, fearless, or aggressive.

MPS III is divided into types IIIA, IIIB, IIIC, and IIID, which are distinguished by their genetic cause. The different types of MPS III have similar signs and symptoms, although the features of MPS IIIA typically appear earlier in life and progress more rapidly. People with MPS III usually live into adolescence or early to mid-adulthood.“

For more info checkout https://medlineplus.gov/genetics/condition/mucopolysaccharidosis-type-iii/

For Rare Disease Day on February 29th, let’s continue to raise awareness and advocate for continued research and funding for these rare diseases so treatments and cures can be found.

21/02/2024

Rare Diseases With No Treatment. 95% of all rare diseases have no approved treatments.

As we approach Rare Disease Day I want to highlight rare diseases who currently have no treatment.

My friend .podcast is a fierce advocate for CTNNB1 Syndrome as her son has it.

CTNNB1 Syndrome is a severe neurodevelopmental disorder caused by disruption of the CTNNB1 Gene. It is associated with developmental delay, intellectual disability and speech delay. CTNNB1 is an autosomal dominant disorder, meaning the mutation of a single gene is enough to cause the disease.
Information from: https://ctnnb1-foundation.org/ctnnb1-syndrome/

One of the reasons Rare Disease Day is so important is for diseases such as CTNNB1 who have no treatment. Continued awareness for these rare diseases allows us to push for research funding so that we can find treatments and cures for these diseases.

12/02/2024

Hey there! It’s been a while, so I thought I’d reintroduce myself.

I’m Aaron, navigating life with an ultra-rare genetic metabolic bone disease called Hypophosphatasia, alongside Crohn’s Disease, a form of Inflammatory Bowel Disease (IBD).

With a Masters in Biomedical Research, I’m deeply passionate about science and love demystifying its complexities. By day, I delve into the world of Data Analytics.

At home, I’m blessed with a wonderful wife and three amazing kiddos—a 5-year-old son and 1-year-old twin girls.

My journey with chronic illness began early, diagnosed with Crohn’s Disease at 17 and later with Hypophosphatasia at 25, a diagnosis that has shaped my life profoundly, leading to numerous surgeries.

In 2010, spurred by my Crohn’s diagnosis, I embarked on patient advocacy work, initially through Facebook, building a supportive community for those affected by IBD—a journey that’s been incredibly fulfilling and transformative.

The discovery of Hypophosphatasia in 2017 propelled me further into advocacy, now extending my support to the rare disease community, advocating for better healthcare access and amplifying patient voices in decision-making processes.

I firmly believe in the strength of community, the transformative power of science, and the simple act of being there for one another.

Sharing my story has been therapeutic for me, and I hope it resonates with others, offering solace in the often lonely and frustrating journey of chronic illness.

I’m a staunch advocate for awareness and believe in the immense power of storytelling, recognizing that patients are the true experts in their conditions—a wisdom that deserves to be heard and respected.

If our paths have crossed, I hope I’ve made a positive difference in your life. Thank you for joining me on this journey. Together, let’s continue to uplift and support one another.

11/02/2024

I believe there should be equity for all in healthcare.

Equity in healthcare is crucial because it ensures that everyone has fair and equal access to healthcare services, regardless of their socio-economic status, race, ethnicity, gender, or any other characteristic. Without equity, certain groups may face barriers to accessing healthcare, leading to disparities in health outcomes and exacerbating existing inequalities. Promoting equity in healthcare helps to improve overall public health and ensures that everyone has the opportunity to live a healthy life.

In rare diseases getting access to the proper care can be challenging, often times because there are only a handful of providers who treat the disease, getting a diagnosis can take decades and just overall access to care is very limited.

There’s so much work to be done to attain equity in healthcare for all, and in rare diseases we have to continue to engage the patient community, continually work to improve access to care, continue to help educate people so they can make good informed decisions about their health and continue to educate providers who have never been exposed to certain rare diseases.

This rare disease month I hope you’ll help us advocate for equitable healthcare for all.

10/02/2024

Did you know there are more than 6000 known rare diseases?

While the specific diseases we live with are rare, the rare disease community is pretty large.

It can be lonely being one of just a handful or even one of a few thousand people that have your disease. Having a community while being chronically sick is one of the best support systems out there, so while you may not have many that have your disease there are many of us rare disease patients out there to support you.

It’s isolating living with a rare disease which is why we as a rare disease community lean on other rare communities for support.

Being rare is challenging but having this community is helpful to so many.