The Gift in Grandma’s Jewlery Box

Cgma kissa

Today marks the 1 year angel-versary of my Grandma. She died last year of complications of Alzheimer’s and dementia that she had been battling for years as it slowly stole her speech and ability to communication. This post is dedicated to her today and the amazing lady that she was in my life. She was caring and kind, sweet and supportive. She made me smile and smothered me with her yummy baked goods and her calming cups of tea. I miss her immensely and look forward to the day I will see her again.

In memory of her today, is the story of a gift that she didn’t even know she “gave” to our family:

About 4 years ago I went to visit my grandma in central Pennsylvania where she has been living for over 50 years.  I was there to help her clean out her apartment as she prepared to move to Florida to an assisted living facility near my parents.
There were lots of things to go through and my grandma wanted me to pick out what I wanted to keep- from dishes to pictures from photo albums and even her jewelry.
In the evening, we took a break from packing dishes and started sorting through her jewelry box full of necklaces, brooches, rings, and earrings.  I came across an interesting item: a medical alert necklace.
I was shocked because I didn’t know that my grandma had any medical conditions of concern (other than the dementia), which would warrant her to wear a medical alert necklace.  Obviously, she wasn’t wearing it at that moment nor do I think she had worn it in months, maybe years as it was tucked  away near the bottom of the box. I turned it over to read it’s inscription:

              allergic to: tetanus anti-toxin

When I asked her where this came from and if it was hers, she told me, “Yes” and mumbled something like “I don’t like wearing that thing”. Grandma was moving to an assisted living facility and she was in the early stages of dementia so her recollection of the past was a little foggy but she told me about a time when she had her tonsils taken out when she was a young mother. My dad and his brother had gone to get their tonsils taken out in high school, and she got hers out at the same time. I remember her describing that after the procedure she had blood pouring out of her mouth and that is when she got this necklace.
I asked my dad later about it and he remembers  her getting her tonsils out with him and that she had to stay a while longer in the hospital due to some “complications”  but he did not know anything about the medical alert necklace.

You maybe wondering why this necklace was one of the greatest gifts of my grandma’s jewelry box.  As some of you know, the last few years we have  been struggling with the  health of our daughter trying to figure out what might be going on with her and the suspected of mitochondrial disease that some doctors believe she has. I have been doing quite a bit of research trying to figure out what has been going on in our little one’s body. One thing we had noticed is that every time she received a round of vaccinations, ALL of her symptoms worsened. We weren’t exactly sure why but had a few hypotheses. This new clue was a glimpse into my Grandma’s past medical history and a clue that another member of our family also had difficulties and complications with a vaccine: specifically the tetanus shot. But why and did this have any connection to our daughter’s health?

Here is just some of the science I dug up in my quest to understand more:

Details on the Tetanus shot offered today (likely NOT the same formulation that my Grandma had)

Clostridia Tetani is the bacteria that produces a toxin called Tetanospasim (known as Tetanus Toxin).

1960 correspondence on Antitoxin: Allergy to Tetanus Antitoxin

Paper on tetanus/autism connection: Autism and Clostridium tetani.

Connection between Vitamin B1 (thiamine) and tetanus protection: Inhibition of tetanus poisoning by vitamin B-1

2014 Report on Tonsilectomy:  Study highlights tonsillectomy numbers and risks             (my grandma’s surgery was probably 50 years ago… if these are the stats in 2014 I cannot imagine what they looked like when my grandma had her surgery)

There is much more out there.. but I will stop here.

I wish I could include a photo of that precious gift with this post, however after my grandma’s death I tried to find the necklace. I had given it to her and told her she HAD to wear it- especially since she was going to a new medical facility. I notified my dad and urged him to get it on ALL her medical records, which he did.

The necklace is gone, and so is my Grandma; but her gift remains. RIP Grandma.

I love you.

 

 

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Share YOUR Genetics Story

 

This coming week Babyfoodsteps is headed to Nashville TN to participate in the American College of Medical Genetics and Genomics conference as a consumer advocate for the Consumer Leadership program that is part of NYMAC.

We are taking with us, our own family’s experience we have had on this metabolic, mitochondrial winding road with genetics but we would love to share your story as well! For some I have spoken with, genetics has given their family hope because it has revealed a treatable condition, for others genetics has offered much frustration as each new round of testing brings little or no answers. No matter your experience, either positive, negative, hopeful or frustrating- WE WANT TO HEAR FROM YOU!

I will be interacting with geneticists, genetic counselors, students in these diciplines and individuals who make policy, implement policy and change policy in the genetics world. I will also be talking with genetic testing companies from all over the country… so if you have a question (general, not specific to only your situation as this is not a diagnositic conference but rather an educational one), PLEASE ASK IT and we will do our best to share it and help you find some answers!

You may submit your comments annonymously or include a name and email if you would prefer a response- we will do our best to get back to you!Emails and names will not be shared with anyone besides the administrators of this blog. By filling out this form, though, you do give us permission to share your story (without identifying information such as names or emails) with others who will be at this conference as well as genetic conferences we attend in the future.

Thank you in advance for sharing your GENETICS STORY with us.

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#1min4mito Week 7: Mitochondrial DNA defects vs. Nuclear DNA defects

(please forgive us, we are still trying to catch up!! :)

This is an important clarification! Many in the medical field hear the word mitochondrial disease and automatically assume that the disease came from the mother and that the genetic abnormality was maternally inherited. This myth comes from the fact that mitochondrial DNA does come only from our mother’s but mitochondrial DNA (mtDNA) is not the WHOLE story when it comes to mitochondrial disease… actually it is only about a quarter of the story! Around 1500 Nuclear DNA genes have been discovered that contribute to mitochondrial disease. Nuclear DNA is the “traditional” type of DNA you learned about in Biology class… one copy from mom and one copy from dad. In the mitochondrial disease world it is turning out that much more of the disease is coming from nuclear DNA abnormalities (75% nDNA) vs. mitochondrial DNA abnormalities (25% mtDNA). 

So what does this mean for you? Well if you or a family member is being tested for mitochondrial disease genetically and a doctor runs an mtDNA genetic test on you and declares from that one test that you do not have mitochondrial disease (despite clinical symptoms that may say otherwise)- then they have only looked at 25% of the puzzle. They need to investigate the other 75% and rule out the possibility of a nDNA defect that may be causing symptoms and disease. And sometimes you need to advocate for yourself /or family member to get them to do just that…keep looking for answers and for healing.

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#1min4mito Week 6: Highest Incidence of Metabolic Diseases

(please forgive us, we are a few weeks behind and trying catch up!!)

This one floors me. Really floors me.

As many of you know over the past few years I have become a HUGE advocate for Newborn Screening.  Metabolic conditions are at the top of the list for disorders that can be screened for at birth and detected in just a few drops of blood from a newborn’s heel. If changes are made to the babies diet, vitamins or medication the baby can live a healthy life, without this screening and knowledge the baby may suffer irreversible brain damage or worse, death.

Of all these metabolic conditions, many of them occur much LESS OFTEN than MITO, yet they have been on the NBS panel for many years. Yet, even being the most common  (highest incidence) congenital metabolic condition, only a few types of MITOCHONDRIAL disorders are tested for at birth. It is my hope that I will see (in my lifetime) universal newborn screening for ALL types of MITOCHONDRIAL disease for NEWBORNS- so treatment, avoidance of compounds that may harm mito babies, and early intervention can begin immediately.

You can read the source article here, which this QUOTE was taken from.

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#1min4mito Week 5: Mito presents at Any Age

“Mitochondrial Disorders may present at ANY AGE”

This information comes from The National Center for Biotechnology Information: Gene Reviews: Mitochondrial Disorders Overview.

2014mitominuteanyage

More resources:

“Both pediatric and adult-onset mitochondrial disease can range from mild to severe and can involve more than one organ system.” - Source

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A-OK Pantry Makeover

This  post is dedicated to my mom, the most organized person, perhaps, in the world! She has earned her nickname from my dad, as the “white tornado” and can put the organizers on shows like “Clean Sweep” to shame!  She helped us unpack and organize what seemed to be zillions of boxes when we moved in our new house and I shared with her then that I dreamed of an “organized” pantry. She encouraged me to buy the “containers” for the project back when we went shopping after just moving in. And now, almost 6 months later, I finally got around to finishing the project. So thank you Mom! And YES, it does feel sooo good to have this little corner of my life organized…. now if only I could do the same with my office.

Here is the BEFORE photo: ugh! what a mess!

pantry7

 

and along with the BEFORE mess here is my BEFORE crappy labeling system (post it notes!)

pantry6

After a quick trip to Michael’s for the labels (found that we preferred the thinner ones in the dollar section because the more expensive card stock ones edges keep peeling off the jars):(  We also found this cool CHALK pen that allows you to wipe it off the labels and re-do them (brilliant!! Like when you run out of something and want to change the jar to another ingredient! or change the exp date on something!)

pantry20

to add to the canisters that I had already purchased from Garden Ridge (4 pack glass canisters for around $13) and VIOLA!

pantry1

We use “A-ok” in our house to designate ANY food that is safe for Lady A to eat!               We made her shelf in the pantry on the bottom so that she can easily get to her food and serve herself when needed!

Ahhhhh and finally the AFTER picture:

pantry5

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#1min4mito Week 4: Pregnancy Loss and Mito

“A high incidence of mid- and late pregnancy loss is also a common feature that often remains unrecognized (in mitochondrial disease)”

This information comes from The National Center for Biotechnology Information: Gene Reviews: Mitochondrial Disorders Overview.

2014mitominutepregnancyloss

and more info can be found here:

Association of mutations in SCO2, a cytochrome c oxidase assembly gene, with early fetal lethality.

and

The antioxidants (coenzyme Q10) in materno-fetal physiopathology

and

Apoptosis and DNA damage in human spermatozoa.

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#1min4mito Week 3: Primary Mitochondrial Disorders

Many individuals (both young and old) suffer from various forms of mitochondrial disease, these range in severity and health impact for each individual. If I have learned one thing about mito… it is that NO TWO mito patients are alike. Mito is a spectrum of symptoms which has the potential to impact every single body system, making diagnosis and defining mitochondrial disease difficult. In the mito world, you hear a lot about primary and secondary mitochondrial disorders.  Today, please SHARE this mito minute defining primary mitochondrial disorders.

Primary Mitochondrial Disorders:

“The term mitochondrial disorder usually refers to primary disorders of mitochondrial metabolism affecting oxidative phosphorylation.”

This information comes from The National Center for Biotechnology Information: Gene Reviews: Mitochondrial Disorders Overview.

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Clear as mud? In Laymen’s terms: “oxidative phosphorylation” is defined as an enzymatic process in cell metabolism that synthesizes ATP from ADP…

even more simplified: “oxidative phosphorylation” is a process that occurs in the cell which produces ENERGY (ATP).”

This video may help clarify it in simpler terms:

Check out this “oxidative phosphorylation” song, it is kinda catchy too!

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Mitochondrial Dysfunction and Autism ~ New Research

In 2013, we consulted with Dr. Richard Frye and Dr. Stephen Kahler and their research team at Arkansas Children’s Hospital in Little Rock and our daughter took part in a Mitochondrial Disease Research Study.  It was comforting to be in a place with practitioners who really “got it”, specifically intricacies of the medical complexities of the  kids. It was also reassuring to know there is a dedicated team of doctors and researchers actively seeking answers as to the connections between mitochondrial disease, autism and environmental oxidative stressors.  The paper below, which was published this week, is the first of many more to come, I am confident, on the groundbreaking technology used to show that in a subset of autistic children there are “significant abnormalities in mitochondrial respiration before and after exposure to increasing reactive oxygen species.”

Key Take Home Message:  “This study suggests that a significant subgroup of AD (autistic disorder) children may have alterations in mitochondrial function which could render them more vulnerable to a pro-oxidant microenvironment derived from intrinsic and extrinsic sources of ROS (reactive oxygen species) such as immune activation and pro-oxidant environmental toxicants.”

 

Oxidative Stress Induces Mitochondrial Dysfunction in a Subset of Autism Lymphoblastoid Cell Lines in a Well-Matched Case Control Cohort

Full text of the article can be found HERE.

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#1min4mito Week 2: Somatization and Mitochondrial Dysfunction

This week’s mito minute focuses on Somatization Symptomology and Mitochondrial Dysfunction, and the link between the two.

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We have discussed this topic at Babyfoodsteps before, and you can read a more in-depth commentary here.

But for the sake of keeping this MITO MINUTE brief, the cliff note version is-

“There is substantial overlap between patients identified with somatization and with mitochondrial disorders. In the latter conditions, symptoms typically wax and wane, and involve different tissues and body locations at different times, presumably in accordance with local energy supply and demand. These and other factors often lead the patient’s symptoms to be dismissed as being “functional” or “psychosomatic”, delaying typically by many years the specific testing that establishes the diagnosis of a mitochondrial disorder in patients with concurrent mood symptoms.”

As quoted from this paper about the subject. Here is the Pubmed reference.

Take home message: if you or your loved one is suffering from mood, “somatization” , or “psychosomatic” symptoms, talking with your doctor about evaluation for mitochondrial dysfunction may be warranted. There may be a DEEPER ROOT cause to your symptoms.

Editor’s Note- This Mito Minute is dedicated to the honor of #justinapelletier, whose story you can read HERE and HERE and FOXCT coverage that broke this story: HERE.

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