Happy Dia de los Muertos! Or Day of the Dead for those of us who did not do well in high school Spanish 🙂

I love this holiday. Celebrated all throughout Latin America-celebrating our dead, a celebration of love and respect for our family members who are no longer with us.

What a cool day. Because let’s face it, the only two constants in life are death and taxes.

In contrast, we have Halloween. I’m a so-so fan of Halloween but I’m not a big fan of super spooky things.

Halloween is spooky and marked with fear. The Celts began a festival called Samhain 2,000 years ago. It marked the end of summer and the beginning of winter- a time when us humans are vulnerable to cold, disease and an absence of food. For one night, October 31st, the ghost of the dead came back to earth and caused mischief, damaged crops and terrorized the poor Celts. Animals were sacrificed, crops were burned; all to keep these mischief makers away for the rest of the winter.

And today- our dead are menacing. They come out of the ground, all decayed and stinky, they eat our brains and the only way to ‘kill the undead’ is to crop off their heads and burying them deep in the ground where they can never come back again.

Gruesome. Right? Don’t mention the dead because they are bad and they will eat your brains.

Perhaps this underlying stigma is why those of us who grieve; search for a way to grieve and honor our loves without losing brain matter.

On Dias de los Muertos, alters are built in homes to invite loved ones back into the realm of the living. Water and food are offered after such a long journey. Marigolds are scattered in the household. And to date, not one person has been eaten by a zombie.

Not one person!

I know my Loves are around. I feel them in a pink sunrise, I smell them after a Spring rain. How lovely to have a day to celebrate the people we love with color, joy and song instead of shoving them back into the ground.

Happy Dia de los Muertos! I challenge you on this day to look around and remember your Loves with joy and celebration. I challenge you to ask one person about a Love they miss. My Grandma Dodie loved a good, dry martini; perhaps today we will have one together 🙂

Yesterday was the birth date of Jonas Salk.

I missed writing about this because I was sewing Halloween bags for my beautiful, healthy nephews.

October 28th is a historic date for many reasons.

1. I sewed a Halloween Bag- I will let that one sink in a bit. Yes, I sewed. A bag.
2. More importantly, it is the birthdate of Jona Salk.

Jonas Who?

Exactly.

Jonas Salk was a medical researcher who developed and discovered one of the first Polio vaccines.

We really don’t talk about Polio. We used to talk a lot about Polio. In 1953 it was the most feared disease in the US. 60,000 people were diagnosed.

In 2019 there were 78 cases worldwide

Thank you Dr. Salk.

Polio is a virus in which there is no cure but thanks to worldwide efforts, and a collaborative to vaccinate children in remote parts of the world, Jona Salk deserves a birthday worth celebrating.

The Polio vaccine was created out of the ‘killed’ polio virus. Dr Salk injected himself to see if he would either develop Polio or develop an immunity to the virus.

He develop an immunity.

And so he injected his lab assistant, his wife and their children; all developed Polio antibodies. In 1954, testing began on 1 million children known as the Polio Pioneers. The vaccine changed the life and continues to change the life of many, many children.

He never patented his vaccine or earned any money- instead he insisted it be distributed as widely as possible.

“Can you patent the sun?” He asked

I think that is deserving of a birthday cake.

This past year I have been so very fortunate to speak with leaders in this rare disease space. I am in awe of their passion and commitment to make this world a better place and our time in it as optimal as possible.

Would I have injected myself with the Polio virus?

I thought about it for a quick second. If someone looked at me with a Mito ‘killed virus’ and said, “it might kill you or the cure could save your Littles.”

Yeah, there’s a good vein right here.

There is no Mito “killed virus” but these stories give me hope. How far we have come from 1955. I imagine my parents as Littles lining up for the Polio vaccine, rubbing their arms after a quick shot, not knowing how their fate many have changed.

I imagine my grandparents breathing a sigh of relief.

And I still imagine a cure for what we face now. I am proud to know many Jonas Salk’s in the world of mitochondria.

There’s a good vein right here.

Happy Birthday Dr. Salk.

48 years ago, young Heather (that’s me) entered the world.

She had 13 grandparents.

You read that right, 13; a Great-Great Gran, sets of Greats and all of my Grandparents. I grew up knowing and loving all of these generations. And I have grown gradually losing these people. But in loving and losing my Grans, I can say they were loved deeply and lived good lives. How lucky are these 13?

At 48, I still have a Granny and a Gramps. It sounds odd at my age to talk about visiting my Grandparents; especially as I walk into assisted living with my wild head of white hair; complaining about hot-flashes.

Okay, the hot-flashes part is kind of a lie. I tend to quietly sweat and hope no one notices 🙂 Regardless, I know this connection is unique and so very special

This week my Granny lost her brother Harry. Harry was a great hugger, quick to laugh and tell a dirty joke about Dolly Parton and Queen Elizabeth.

He loved his little sis, my Granny.

I think at any age it’s hard to lose your big brother.

Granny is one of seven rowdy children growing up during the depression in Southern Indiana. Life had to be hard. Family was about survival.

As a child, watching this group of seven, I heard stories of eating what could be caught, the best way to prepare a squirrel stew and warnings to never smoke banana peels, not matter if your brother dared you.

This was a close group of seven.

Now my Granny is the last surviving of these seven. She could not travel out to Indiana so I thought I would take the trip in her steed and to pay respect to my dear Uncle.

It was a good trip surrounded by family. Family is good. Family can be flawed and flaky but at the end of the day, it is family who remember you before you were 48, who still think of you as 10 and remind you to call when you get to the airport because after all, you have not had your license for very long. Family is where you came from.

Yesterday we laid my uncle to rest. He has a plot by his parents; my Great Grans and next to his wife and daughter. The trees in Indiana were at their peak, speckling the fields of corn with yellow, orange and burgundy. A county road backs up to the cemetery and if you look out to the horizon, you can imagine that this land looks exactly as it did 91 years ago when Uncle Harry came into this world.

And how lucky is my Uncle? He died at 91. He lived a full, healthy life. He was loved and cherished until the end.

I hope to have an Uncle Harry life.

To end it all here where the wind sweeps through the corn; quiet and untouched, surrounded by family who has moved on…… may we all have an Uncle Harry life.

November starts NaNoWriMo- a month of writing in November. Writers commit to 2,000 words a day. I have signed up in HOPES that this will kick off my memoir.

As a teaser, here are the first 1,000 words:

I know it in my bones.

I know something is wrong. I feel it in my hips, my tibia, my fibia, my femur.

But my bones lie. They carry me forward when my heart palpitates, when my breath increases, when my tummy rumbles, when I pee my pants…..none of that matters….my bones carry me forward.

Perhaps if I had knew how my life would change, I would stop for a moment. Hold a moment of reflection at the door. Notice the blue of the sky or the wisp of the clouds. Take one last breath, inhaled the fresh air.

But the wind was bitter. Stupid blue sky and January wind.

It tears through my coat and her tiny face grimaces against the chill. The air is not fresh but full of cigarettes and fear. The snow piles in dirty mounds against the walkway.

And despite the inconsistent beating of my heart and the bile that collects against my throat, my bones carry my daughter and walk through the door. 

Inside isnt any better; florescent lights, tile floors, industrial cleaner, hand sanitizer, couch, television, desk.

The doors close behind me and the people on the other side of the desk looked up.

I smiled and glance at the T.V.

Huh, Who’s the Boss, have I seen this one? Is this the one where Tony and Angela kiss? That was a good one.

“May I help you?”

“Huh?”

The woman behind the desk nodded in my direction, “Can I help you?”

“I think my daughter is really sick,” My legs carry me to her desk. She eyes a monitor.

“Fever?”

“Slight”

“Nausea?”

“No, Diarrhea.”

She nods and continued to types.

“Why are you here?”

Well that’s a loaded question lady, I want to say. Instead, I swallow hard, asking my stomach to cooperate. “I think she is really sick. She doesn’t take a bottle and when she does she throws it up. She doesn’t sleep. She doesn’t hold her head.”

My head fell to my hands, “I don’t know what to do.”

She types.

I watch.

I develop a disdain for this woman.

“Wait over there, we will call you.”

My jaw forms into a smile. My hand grips the handle of the baby carrier and my legs carry me to the waiting room.

I sit and gaze at the bundle in the car seat; she is perfect and broken, feverish and beautiful, all wrapped up in pink pajamas with dancing sheep. I touch her cheek with my pinky.

Hubs is suddenly by my side. When did he get here? He takes the baby carrier from my hand. My hand is empty. My bones ache.

“Don’t touch anything,” he said glancing around. “Who knows what this place is crawling with. Do you have the purel?”

I hate all of this. I hate the nurse at the front desk. I hate Tony and Angela deciding if they should kiss. I hate the way the polyester feels on my butt. I hate everything about this situation.

I look with a stewing gaze for more things to hate.

EXIT states the sign to my left. Oh you Exit sign. You tease. How smug you are, signaling a door where you can walk out. You advertise on high. You can leave here. You can walk out. But it will cost you your soul.

What is the price of my soul? What is the cost to leave?

I can bolt.

I can leave.

We can all leave.

Maybe it was a mistake to come here. We can get in the car and drive home. Stop at the drugstore for Baby Tylenol and Benadryl.

I have always overreacted.

I’m sure I am overreacting.

I stand between the EXIT and EMERGENCY. Between the howl of the wind outside and the stagnant air inside; my empty hand searching for the weight of the baby carrier wondering who’s life this could possibly be.

In truth, my reality is between the signs. My daughter is sick. She is so very sick and I know it. Beneath layers of fleecy blankets and pink pajamas with dancing sheep is my sweet babe whose pink rosy skin has turned grey and whose blue eyes are sunken. 

I turn my back from the exit and reach for the purel.  

Hubs squirts a generous amount and wipes it on his hands and face. He squirts more and swabs down the car seat, diaper bag, our feverish daughter.

“That’s not good for her immune system,” I say

He shoots me a look. We should not talk.

I sit on the edge of the waiting room couch.

What is that smell?

I glance at my fellow couch-mates with a discerning, critical eye; judging their hygiene habits and realize that smell is me.

My god I stink. I really smell; the smell of fear and body odor. I can no longer hide what my life has become.

What a façade. Yesterday we were in Beaver Creek skiing. We left early because Samantha looked so bad. In desperation I smeared deodorant on my pits, gargled last night’s wine with a little Scope. Smeared a little make up under my eyes.

If you look okay, she will be okay

Cover up covers up everything.

Foundation will strengthen our foundation

As long as my lipstick is refreshed, everything will be okay.

Hubs hands me a Power Bar. “You should eat something.”

I hate Power Bars. I hate everything about them. The chewy texture. The taste that is almost something you recognize but not really. Is that chocolate I taste? No its ass. Even the gold packaging. I hate it all.

I’m not hungry.

I want a coffee. Where’s the coffee machine? This is a hospital. Hospitals run on coffee. Screw coffee I need a bourbon.

I nervously start to rock and bite my fingernails. Hubs takes my hand from my mouth. “This is a hospital.”

I don’t care. Let me be infested with hand, foot and mouth disease, Swine flu, hippo virus, bird flu.  I would lick the floor……just let my daughter be okay.

“Schichtel? Samantha Schichtel?” The nurse called.

“That was fast.” I said to my husband.

“Good insurance,” He mumbles. We hurry past the others who were waiting before us. I try not to meet their eyes.

We file into a small room with a nurse and a computer.

“So, what’s going on with Samantha?” she asks.

I tend to manage bad news better. Bad news means I need to take action, to fix it, to help, to cook, to bake, to comfort, to process…….

Good news means I just get to revel. Soak. Just let it sink in. I’m trying to soak.

Today I got a text from our dear scientist at Children’s. I have been waiting for this text. I have texted her about this text. We have been waiting, waiting, waiting to hear about an NIH grant that would change the future of our clinic in Colorado. Our initial scores were good, everything looked great, now we wait.

I am such a bad waiter. I want to know now.

Today my wait was over.

We got the grant from the NIH.

A grant that will secure the future of the clinic, a grant that will allow the super smart people who work there to advance research. A grant that says, “Hey Colorado, it’s the NIH. You all have been doing some great things out West based on some money raised with a bike ride. Here’s a chunk more. Now don’t spend it all in one place. And since we are the National Institute of Health, if you come back with solid data, there’s more where that came from.”

Well that just dills my pickle 🙂

Because we did not just stumble on this grant. The very best thing about where we are today is that we have all arrived together. Our patient group raised money. We climbed that stupid Vail pass, our hineys pissed and gasping for air.

Every year enough money to keep things going and research moving forward.

Our doctors, lordy….we have a great team of scientists; a group that has worked together for years. They understand each other and where they want to be. They know our families. We are so grateful to them and them to us.

It is magic. This. In the midst of this god-awful tragic disease, we have created something unique, respectful and magical.

We have created something even more rare than a POLG-1 mutation. See what I did there? Genetic joke.

Nice job dear tribe. Keep fighting the good fight.

I have a dear friend.

Her sister was brutally murdered when she was 18.

We talk a lot about grief, processing this world, PTSD, and the best way to go forward.

It’s a fun game.

A game usually around a couple glasses of wine, about who’s grief is worse. It is not a game for the light of heart but for those of us who have lost our Loves, we find incredible freedom in being able to talk through grief and trauma.

I personally find solace in the fact that my daughter was sick. We did everything to make sure she had the best possible life. In the end, her body gave out.

To listen to my friend…..random acts of violence, terror for terrors sake, to take a precious life knowing how precious and limited we are in this world, I can’t wrap my head around it.

I really can’t. Which make my conversations with my friend even more interesting.

There is no more intimate, variable, unpredictable emotion than grief.

As a society, we suck at grief. Really, we are the worst. We don’t talk about it, we blame, we hide, we ignore, we prescribe and when we grow tired of those who ‘just cant seem to move on’ – we move on.

And we make loss political.

And alas the complexity of this picture. I will not comment on the judge giving the defendant a hug. I will not comment on ten years. I probably agree with your opinions.

But leave Brandt Jean alone. His hug was not motivated by anything other than grief and the need to connect with others around the death of his brother.

He is 18 years old.

His big brother was shot.

He has to live the rest of his life without this person. This hug was grief motivated; maybe healing motivated, maybe faith motivated. It was not politically motivated.

And because we cant talk about grief and loss as vulnerable people, we turn it into politics. Politics is easier to process than grieving a life without a Love.

I tell my friend often how brave she is to move through this life knowing the horrific things that can happen.

She tells me the same.

We should respect the grieving process. Let a boy mourn his brother. Keep him out of the process. He goes to bed now wondering if he should have hugged that woman; trying to find peace in God. None of that is fair.

And ultimately- he does not need our opinion.

You do not have an iota of how complex grief is until you navigate it. Let a brother do what a brother needs to do. Be grateful and hopeful he continues a path to peace and to conduct change in a place of love, not anger.

For the love of God. Just let him give a hug.

I have the honor of sitting in on a Mitochondrial Support Group every week. I don’t have mitochondrial disease but I have lived with the impact on my family for 15 years. I love this group; it’s honesty, it’s camaraderie. Most of the people who call in are adults with Mito; a very under-served and under-recognized population.

This is a smart group of adults advocating for the best care for a complex disease. I have heard many times that Mito challenges our approach to health care. This group gives a name, a face and a voice to those challenges.

Our lovely, beautiful mitochondria live in our organ and muscle cells. When there is a breakdown in mitochondrial function, the breakdown is system-wide. The brain, the tummy, the heart, the eyes, nerves, muscles…..all are impacted.

And yet, when a Mito patient sees many specialists, for their many issues, that specialist is just focusing on a certain organ system, instead of how the entire body is reacting to this breakdown in energy.

Samantha never cut teeth. In her four years of life, she had two tiny nubs of bottom baby teeth. This never bothered me. She was tube fed, she never had solid foods and I figured her tiny, energy deprived body needed to keep the brain or heart happy. Teeth were a non-issue in our book.

Teeth were a non-issue until we saw dentist. Dentist focus on…..teeth. He proposed that we sedate our toothless beauty, cut into her gums and pull those elusive baby teeth down.

“But why?” I asked.

“Because she doesn’t have teeth.”

“But she doesn’t need them.”

Never tell a dentist someone doesn’t need teeth. It. Rocks. Their. World.

In the end we agreed that sedation for a mito kiddo just to pull down some choppers was a silly idea. To the Dentists’ credit, he is concerned about teeth. When he choose a specialty, they never discussed issues that might impact the entire body…..including teeth.

When discussing this issue today, someone on the call said, “My cardiologist doesn’t care about my migraines.”

The statement was so profound and so true and so dangerous in the world of mitochondria. We have a silo’d medical system where the cardiologist doesn’t really talk to the neurologist, or the pulmonologist, or the gastroenterologist, or the dentist.

This summer I sat in on the UMDF Scientific Conference. The key note speaker open the session by saying; “We can no longer think Anatomy, we have to think energy.”

I loved this statement and agree with it 100%. And since migraines can be a vascular issue and are related to heart disease and stroke, maybe we should care about the relationship between the two.

This is not to criticize the medical community. Doctors, PA’s, nurses and their teams are doing the best they can with limited time. But after hearing this smart group of advocates, trying to be champions, managers and coordinators of their care, we need to rethink clinical care for complex, multi-system issues.

Otherwise we are just pulling teeth.

This week found me in San Diego….which was awesome and beautiful and lovely. But more importantly, I was there for the Global Genes Rare Patient Advocacy Summit.

Turns out, rare is not so rare. 1,000 beautiful souls gathered to make our rare known.

Rare people are lovely. I already suspected this but there is nothing more welcoming than sitting on a shuttle and conversing about which genetic mutation you carry and why you are here.

Rare is resilient. I listened to many talk about loss; loss of their Loves and loss of their own normal. I listened to Ono Faber, Founder of a company called RDMD. Four years ago, he developed a tumor on his left hearing nerve, and another tumor on his spine, and another and another. Being an entrepreneur and a man who loved to solve problems, he had his tumor biopsied and invited researchers to his tumor’s ‘hack-a-thon’ to determine the cause of these tumors.

Those hackers dug right in and found a mutation in the NF2 gene which caused a condition called Neurofibermatosis- he is one in 30,000 with this deviation.

I want a genetic tumor hack-a-thon.

But I am not a hacker, or an entrepreneur, or a doctor, or….or….or.

On the first day I sat in a session sponsored by Courageous Parents Network. It started with the question, ‘Why are you here?’

I wrote down my answers:

• My family: I am here for Samantha, I am here for Jack, I am here for Ryan
• My Tribe: I am here for you- our Mitochondrial Community
• My future Mitochondrial Community- You who I don’t know yet- those we can help to make their journey less painful
• I am here because I want to change this outcome

I sat in a session hosted by The Two Disabled Dudes- check out their podcast. The Executive Director of Team Telomere- said the following, “I want to make today as good as it can be for as many people as I can.”

She lives with the mission to make more days available.

To make more days available.

That is what I want. I want you to have more days. And for those days to be as good as possible. I want more days, I wanted more days.

You have read the posts this week. They have been hard and heartbreaking and beautiful and hopeful. And the concept of cure sometimes is so overwhelming and seems so out of reach. We live in the fear of our Littles, our Loves and ourselves that the cure might not come in time.

The fear is real, and palpable and we have seen that fear become a reality too many times. Rare can be littered with fear.

But I also learned this week that Rare is collaborative. I met many brilliant, driven, hopeful people who have paved a little trail for us and are willing to share the map and provide a compass.

I hope you will join me for the hike.

My thoughts on advocacy!

This quote is not mine but I love it.

I am going to steal it for every single mitochondrial presentation. For our doctors, for our researchers, for our government, for you….please…..be mighty….be bold……we are waiting.

Friday found me here:

Discussing this:

I invite you to read the caveat on the bottom of the poster ‘Given the complexities of primary mitochondrial diseases, and by extension the difficulty of designing informative clinical trials in this group of rare diseases, FDA is organizing a scientific symposium with the goal of bringing together academic physicians, FDA regulatory experts, patient advocates, and other interested stakeholders to exchange ideas and advance drug development in this challenging field.’

Oofda.

When the FDA puts this in print, our call to be mighty is mighty.

I pulled up on Friday in my Uber…..just a simple English major from Colorado…… with our super-smart Mito experts and the frickin’ FDA.

Well butter my biscuit and call me for breakfast.

Here’s the skinny; you Mito folks we have an audience.

We have an ear of the FDA.

Thank you to the UMDF, Stealth BioTherapeutics, MitoAction, MDA, everyone in this space, thank you for promoting our ear.

Clinical trials within the mitochondrial space are not easy. Mitochondrial diseases spread among 37 MtDNA genes and over 250 nuclear. Our family carries a mutated POLG-1 gene, which is a nuclear inheritance but the presentation even among our family is different.

Every night Hubs would rub Sammers head and say ‘good night, Samantha, keep fighting the good fight.’

We lost that fight.

I hate that we lost that fight.

When the FDA started talking about Pediatric testing and the ethic barriers to certain tests, I got up and talked. I talked about when Samantha was diagnosed with Infantile Spasms; when her poor precious brain was seizing 90% of the day and the only med that could help help her was Vigabatrin. And when I found out Vigabatrin was not FDA approved because it was known to inhibit peripheral vision.

I didn’t give two poops about her peripheral vision. Stop the seizures.

Stop the seizures.

Stop the seizures.

We paid out of pocket from Canada for Vigabatrin and for a brief moment, I lived the life of a Vigabatrin drug lord because it was approved in the States.

The FDA needed to know my life.

The FDA needs to know your life.

They need to know that you would sacrifice peripheral vision to stop the seizures. That your life is so far from normal, you would give up what seems normal for a bit of normal.

My challenge to you Mitochondrial community.

Be Mighty

Please be Mighty.

Lets talk about our story. We talk about a Natural History study, mapping out genetics and physiology. What about a person study? Who were you before your mitochondrial disease? Before your child’s mitochondrial disease? We now have an ear to the FDA.

Be fearless, be bold, know you have a voice.

We have nothing to lose.

Be Mighty.

I will take your mitochondrial story: heather.schichtel@gmail.com