After Archer

"How lucky I am to have something that makes saying goodbye so hard."- Winnie the Pooh 

Diagnosis

Overview

Let me start out by saying, I am NOT a medical expert. Everything that I share, I am still learning a lot about and doing research on. (All resources will be listed at the bottom of this blog page).
As I learn more about PolG, I will share what I know to raise awareness. These entries will be dated, so everyone can easily navigate the new information.
Please have grace on me if something is misstated, as I really am learning about this rare disorder.

Mitochondrial Depletion Syndrome (MDS)

This is a “group of rare genetic disorders that limit the number of mitochondria inside of cells” (The Children’s Hospital of Philadelphia, 2019).

Mitochondria

These are known as the “energy generators that power the function of cells in the body. They create more than 90% of the energy in our cells” (The Children’s Hospital of Philadelphia, 2019).

Polg

There are many, I believe, thousands of different types of PolG. Archer had Autosomal Recessive PolG, which means he received a recessive PolG gene from Theo and me.
Let me be clear, Theo and I gave a gene to Archer that caused him to have this disorder. He could not have had this form without us both passing this gene down. This genetic disorder is currently incurable.
Archer had the rarest and most severe form of PolG. Only 2% of the population carry a PolG mutation (Rahman & Copeland, 2018).

Where to learn more?

Because I am not a medical expert or scientist, I would like to point you all to the PolG foundation. Their goal is to help support and accelerate research to help find treatments or cures for PolG disorders. Please check out their page: Click Here

WANT TO DONATE?

For Archer’s birthday month, of June, we are raising funds and awareness for the PolG foundation. Donate to the PolG Foundation

Alpers disease – Updated on 6.21.22!

This is a progressive, neurodevelopmental MDS. It is characterized by three main symptoms: 1. psychomotor regression (which is dementia), 2. seizures, and 3. liver disease (U.S. Department of Health and Human Services, n.d.).
Archer only ever experienced the liver disease, which we are beyond thankful that we didn’t have to watch him go through seizures or dementia.

How do Genetics work?

Remember earlier how I said I am not a doctor? Fun fact: I am not a scientist either… I will do my best to explain what I understand about genetics.
Both Theo and I have different genes. When you have a child, they get genetic coding from both the mother and the father. It can be dominant or recessive.
Theo: He is a carrier of PolG, which means that he can pass a recessive PolG gene down to Archer.
Brittney: Recently, we found out that I have Autosomal Dominant PolG, which means I have both a dominant and recessive PolG gene that can be passed down to Archer.
Archer received two recessive PolG genes, which was the worst-case scenario.

Elephant in the room, if you caught it

I have Autosomal Dominant PolG, which means there is a possibility that this gene could impact my future. The form of the gene I have doesn’t usually present until adulthood.
When? We have no idea…
Likelihood? It’s rare, so we have no idea…
How? Likely in my vision, but there can be some mild or not so mild impacts.
Please DO NOT define me by this “diagnosis” or treat me differently.
1. We don’t know enough about it.
2. It may never affect my life.

What’s next?

June 2nd update: Theo and I will be speaking with our genetic counselors to understand PolG further and to get more information on the disorder.

June 21st update: Theo and I will be continuing to explore our options for what a family looks like and how that can be ‘safely’ accomplished.

Archer Floyd

He was not defined by PolG, nor will he ever be. Most people who knew him defined him by his smile or personality.

Let me clear up some common misconceptions:

  • Archer did have liver failure.
  • Archer qualified for a liver transplant until they found out his true diagnosis.
  • Archer couldn’t have a liver transplant, after his diagnosis, because the PolG would then impact other organs (they would fail).
  • Archer did pass away from liver failure, due to his PolG.
  • Archer never experienced any other side effects of PolG, due to the fact that his liver failed so quickly.

What did we learn about PolG in the hospital?

March 5th – April 1st

Coming Soon!

Genetic Counseling – What did we find out?

Added June 21, 2022

On Wednesday, June 8th, Theo and I attended our genetics counseling appointment. This appointment was to understand our variants of PolG better. We had scheduled this a few weeks prior, and the weight of knowing that we both had different variants of PolG was heavy. The doctors were more concerned about the variant that I have than Theo’s variant. 

We had to go to the Curative building at Children’s Hospital. We walked into the genetics clinic to check in, and I had to complete paperwork on my health. While I was doing this, a mom and her little boy, probably between the age of 1 and 2, came in. Tears streamed down my face. Before Archer passed, we were scheduled to have checkups at the Curative building with the genetics team to monitor him. At that moment, it sank in that we never made it to that stage with Archer, which I am grateful for. (I will explain this further at another time). 

It was finally time for the nurse to take us back to the room, and they did a height, weight, and head measurement on me, as they wanted to ensure I was within the ‘normal’ range. Then the nurse put us in our room.

We saw the genetic counselor and the geneticist, which allowed us to ask many questions to understand PolG better and what this means for us. We asked so many questions:

  • How did I get this?
  • What is the difference between Theo and my variants?
  • What does this mean for our potential future of a family?
  • What was Archer’s condition specifically called, as there are many versions/variants of PolG and mitochondrial depletion disorders?

Here is what we found out:

How did I get this?

There is one of two ways to get the variant that I have. The first way I could have gotten this is it being genetically passed down by one of my parents, and they could have gotten it from one of their parents, and so on. The second way I could have gotten this is that I had a genetic typo that occurred during my lifetime, and I would be the first/only one to have this in my family. (Genetic typos are very common; however, most of them don’t impact your life, and you would never know this). 

What is the difference between Theo and my variants?

We both have what you could call one ‘good’ gene and one ‘bad’ gene. The ‘bad’ gene is the one that carries PolG. My variant of the ‘bad’ gene has the potential to present with different symptoms as I age. Theo’s variant of the ‘bad’ gene doesn’t have this potential. 

We both passed our ‘bad’ gene to Archer, which resulted in his form of PolG, or Alpers. 

During the appointment, I did do some baseline testing, which the genetics team conducted. They told me that they believed it was possible but not probable that I would present with any type of symptoms, which was a weight lifted in and of itself.  

What does this mean for our potential future family?

Theo and I loved being parents to Archer, despite all the ups and downs. We want to be parents again, so this question was one of the most important for us to know and understand.  

Theo and I both have one ‘good’ and one ‘bad’ gene. When we have kids, we have a 25% chance of each of the following:

  • 2 ‘good’ genes = no PolG and no potential to pass on PolG.
  • 1 ‘good’ and 1 ‘bad’ gene = this would be Theo’s variant, which would not have the ability to present symptoms. 
  • 1 ‘good’ and 1 ‘bad’ gene = this would be my variant, which could have the ability to present symptoms. 
  • 2 ‘bad’ genes = this is what Archer had, and the life span of fewer than 10 years old. 

I have listed these from the best to the worst-case scenario for future children. Theo and I have options for how we can screen for the genetics before having children. We are looking and researching all of our options to see how we can continue to grow our family.

Archer will always be our firstborn; we will make him well-known, and we hope and pray he will be a big brother.

What was Archer’s condition specifically called?

Alpers Disease. 

I want to write more on this, but finding credible information and writing on it is really hard. I wouldn’t encourage it because of how devastating some of the things children go through can be. 

All in all, the appointment went better than I had expected with the genetics team. We feel we have more information to feel ‘lighter’ on what this means for our family and me. 

Sources

The Children’s Hospital of Philadelphia. (2019, December 12). Mitochondrial depletion syndrome. Children’s Hospital of Philadelphia. Retrieved June 2, 2022, from https://www.chop.edu/conditions-diseases/mitochondrial-depletion-syndrome#:~:text=Mitochondrial%20Depletion%20Syndrome%20(MDS)%20refers,the%20energy%20in%20our%20cells.

Rahman, S., & Copeland, W. C. (2018, November 19). Polg-related disorders and their neurological manifestations. Nature News. Retrieved June 2, 2022, from https://www.nature.com/articles/s41582-018-0101-0

U.S. Department of Health and Human Services. (n.d.). Alpers’ disease. National Institute of Neurological Disorders and Stroke. Retrieved June 21, 2022, from https://www.ninds.nih.gov/health-information/disorders/alpers-disease#:~:text=Alpers’%20disease%20is%20a%20progressive,for%20the%20mitochondrial%20DNA%20polymerase