The Lady A Shopping List~ for Grandma

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In a few weeks, Lady A is off to grandma’s house. What is different this year, is mommy is not going for the routine 2-3 days at the beginning of every trip to the grandparents, to shop, cook, slice, dice and prepare much of her food ahead of time! What a big milestone! Which leads me to this post… a virtual visual repository for the foods that we have found Lady A can tolerate and those which she can safely metabolize in her diet… all to hopefully make it easier for grandma (or anyone who needs to in the future) to go shopping for her prior to her arrival!


Eggs (cage free/ free range/organic)- she enjoys the egg whites only recently, brother will eat the yolks scrambled!

Organic Chicken

Organic Ground Turkey

Organic Grass Fed Beef

Applegate Turkey and Chicken Hotdogs

Applegate Organic OVEN ROASTED Turkey Breast (NOT SMOKED (bc it is high in phenols) and NOT CHICKEN (bc it contains honey))

Chicken Maple Sausages

Raw Organic Cashew Butter

Applegate  Organic or Natural Turkey Bacon



(all ORGANIC if possible)


Banana (max 1 every other day)

Green Grapes (5-10 every other day due to being higher in phenol)

Green apples (peeled)

Watermelon (1 slice every other day due to being higher in phenol)

Pears (peeled)




(all ORGANIC if possible/ frozen is fine)

Yellow and green zucchini squash

Green beans


Butternut squash (with brown sugar sprinkles)

ORGANIC only Corn (non-GMO)

Russet potatoes


Flours/Grains/Baked Goods/Cereal

Organic Brown Rice

Brown Rice Pastas- tikiyada and shape pasta

Rice Mum-Mums- Banana or Plain

Glutino Crakers

Namaste Spice Cake Mix

Namaste Vanilla Cake Mix

Namaste All Purpose Flour

My Bread (whole foods GF freezer section)

King Arthur Bread mix

GF Oatmeal

Nature’s Path Oaty Bites

Nature’s Path O’s

GF Bisquick (not ideal bc it is GMO, but will work for pancakes and waffles on the go)



Spectrum Shortening

Organic Sunflower Oil

Organic Safflower Oil

Pink “shake- shake” (ie Himalayan Salt) 

Brown Sugar

Powdered Sugar

Vanilla Alcohol Free

Yummy Earth Lolly Pops

Yummy Earth Gummy (2-3 gummy per day max)

Pomegranate Juice

Organic Lemonade (dilute 1/4 juice to 2/4 water)

Organic Rice Milk


A few of her favorite Recipes and Treats:

Oatmeal Cookies


Pear Crisp



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It’s All about Energy!

In the past couple years I have learned A LOT about biochemical energy! That is… energy in the form of ATP which is the form our body uses and which is produced by our mitochondria.  Being a chemist and taking my share of physics classes in college, I am well aware that this is not the ONLY kind of energy which exists in our world.. remember potential energy, kinetic energy, quantum energy, electrical energy, chemical energy, etc?

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So when I heard about this conference that the Thinking Moms Revolution is hosting TOMORROW (July 16, 2014), I was intrigued.  Can mitochondrial disease and other medical conditions (including autism) be improved by other forms of energy medicine? In our quest to find answers for our little gal in mainstream medicine, I have often been curious that we see a neurologist and a geneticist to diagnose and treat her mitochondrial condition. In mainstream medicine there is NO Energy specialist, NO energyologist, NO mitochondriologist… instead energy in this framework is considered a symptom (either too low or too high). And as much as western medicine likes to claim superiority over eastern medicine… eastern medicine does at least embrace energy (qi) in their healing modalities… hmmm.  In speaking with many other mothers with children with autism and many other conditions, I know that they have had numerous improvements with their children by exploring these various healing modalities. Often times my scientific brain kicks in and says, “Where is the science, is there proof this works?”… and then I realize many many things that were supposed to “work” for our daughter have not, we truly have an N=1, as does each and every parent that is trying to help their child get better! What works for one family may or may not work for another. Focusing on finding non-invasive therapies and treatments that cause no harm to already fragile children is paramount!

So being new to all this and not really knowing much of anything about energy healing, I plan to do what I have done with every other therapy, treatment, and intervention that has been suggested to us thus far along our healing journey: I will learn as much as I can about it, research it with an unbiased perspective, pray and trust my gut as to what resonates for our family. I hope you will join me in learning more!



** editor’s note:  In exchange for writing this blog post about the conference I was given a discounted admission to the conference, but for the reasonable cost of $40 and a year access to all the speakers, I would have paid full price to have access to learning new information that may be able to help our family,  anyhow!! :)

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Lady A’s Doughnuts- Gluten Free / Casein Free / Soy Free / Low Salicylate

The other day I came across something I wrote when I first started this blog… and it made me pause and realize just how much this journey (and this blog) have transformed and how much we (and I) have morphed! This blog was originally meant to be a repository for food information for Lady A, so that if (God-forbid) something happened to me, others could cook and take care of her. So this post goes back to that original intention: so her daddy, grandma or maybe even her brother (wishful thinking?) can make her these yummy doughnuts someday!

As you can see from the picture… they took a little work! The key was putting 1 teaspoon of batter into the molds and not 1 tablespoon! Viola!

1 cup of flour (we use Namaste Perfect Flour Blend)
1 tablespoon baking powder  (aluminum free!!)
pinch of salt (Himalayan)
1/2 cup of sugar (organic)
1 egg (free range)
1/2 cup milk (Organic Rice Milk)
1/2 teaspoon vanilla extract (Alcohol Free Frontier Brand)
1/2 tablespoon Organic Sunflower oil

Blend flour, baking powder, salt & sugar
in another bowl blend egg, milk, vanilla, and oil
pour wet mixture into dry mixture.
pour 1 TEASPOON into donut each donut holder.

Cook in big boss grill 5 minutes.

Dust with Organic Powdered Sugar. and ENJOY!

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#mito2014 Mitochondrial Symposium Top 10 Takeaways

Top 10 Takeaways


the UMDF 2014

Mitochondrial Disease Symposium

in Pittsburgh PA, June 6-8, 2014


1. Scientific Meeting- Leonid Sazanov presented specifically on the structure of complex 1. He commented also on how the well-known cplx 1 inhibitor ROTENONE  (pesticide) works. I was a bit surprised to learn that the structure of complex 1 was only recently elucidated. For those who are new to the term: Complex 1, watch this short video for a primer in how complexes 1-5 make energy (ATP) in our mitochondria.

Tweet- #Mito2014 Leonid Sazanov speaking about the importance of Complex 1 in#LHON#parkinsons and #cancer. All 44 subunits of it!!

2. Scientific Meeting - Matthew Hirschey (twitter- @hirscheylab) spoke about Protein modification and mito. He discussed acetylation and hyperacetylation and introduced newer modifications- malonylation, succinylation and glutarylation. He also introduced (at least is was new to me!!) a class of proteins calls SIRTUINS. The Deacylases (SIRT 3,4,5) have new-found impact on mitochondrial dysfunction.

tweet: #mito2014 Hirschey from Duke gene may be fine, protein may be fine but the group you are putting on the protein may be wrong… i.e.. Acetylation. Then talked about sirtuin and how it regulates de-acetylation

3. Mitochondrial Disease and Dysfunction is linked to MANY other fields of medicine specifically  CANCER and CARDIOLOGY. Michael Lotze gave a talk about mitochondria and cancer cells dying a wrongful death (mentioning HMGB1 in innate and adaptive immunity) and Stephen Archer gave an overview of new therapeutic targets for Cancer and Cardiovascular Disease (focusing on the DRP1  protein that mediates fission).

4. Scientific Meeting- Parkinson’s disease is a disease process that involves the mitochondria.  In mouse models, giving the mice chronic doses of ROTENONE induces Parkinson’s like symptoms.  ROTENONE is a potent complex 1 inhibitor, it is also an ORGANIC pesticide (NOT a rat poison as was conveyed in the family session) that has recently been limited in the United States. (good overview or Rotenone use here)

This piece of information BEGS to question… what is Rotenone and other pesticides impact on individuals with Complex 1 (and other mitochondrial deficiencies)?? I urge the UMDF and the mitochondrial scientific community to have this question at the top of their agenda at NEXT YEAR’s meeting~ WHAT ENVIRONMENTAL EXPOSURES MAKE MITOCHONDRIAL DISEASE SYMPTOMS BETTER or WORSE for Patients?

(some other research papers I came across regarding rotenone/mitochondrial/parkinson’s link-


#mito2014 environmental links to Parkinsons- Rotenone (acute and chronic) MPTP all been found to impact mitochondrial function.

#mito2014 focused on an #environmetal #toxin model- chronic rotenone exposure in cell culture

#mito2014 If you grow HeLa cells in galactose and glutamine they become dependant on their mitochondria for energy vs. glucose medium.

autism panel5. Family Meeting-Mitochondrial disease and Autism are intimately intertwined. Dr. Bob Naviaux shared his research about purine signaling and cell danger response and  how antipurinergic therapy (suramin) increases mitochondrial function in a mouse model of autism (reference here), Dr. Richard Frye shared his research about oxidative stress induced mitochondrial dysfunction in a subset of cell lines from autistic children (a more thorough discussion of this research can be found here), and Dr. Doug Wallace talked about changes in mitochondrial DNA heteroplasmy and its impact on inflammation as well as halogroups and which ones may be more at risk for autism. You can listen to the talk replay of this panel here.

Questions from this session inquired about what types of “environmental toxins” would be important to avoid for a child with mito and autism. Dr. Bob Naviaux was kind enough to provide this slide (and give his permission for sharing) that highlights 12 tips that families can focus on:


Slide thanks to Dr. Naviaux

#mito2014 Haplogroups J, N, V, T, T2 all increased risk. some have almost as big effect as sex bias (boys vs. girls)

#mito2014 subtle changes in heteroplasmy in mitochondrial mutant can cause phase change in symptoms – such as in response to inflammation and regression

6. Family Meeting- Dr. Bruce Cohen of Akron’s Children’s Hospital gave this presentation on Dysautonomia and Mitochondrial disease. The biggest take away I had was that dysautonomia is definitely linked to mito but no one really knows if it is just another symptom or a cause unto itself- chicken or the egg!?  Cohen spent much of the talk focusing on primary, secondary and possible mitochondrial disease, with the bulk of his patient population (including cases he has recently re-classified from mitochondrial disease to possible mito), over 80% being possible mitochondrial disease.


#mito2014 Cohen estimates (in his patient population) 15% primary mitochondrial disease (genetic confirmation) 1% secondary and the rest (over 80%) are “possible” mitochondrial disease

#mito2014 Cohen explains reclassification of patient who in 1992 was complex 1 with MELAS like mitochondrial disease, to 2013 she is reclassified as possible mitochondrial disease, she doesn’t fit criteria, though he believes in his heart she has it. Takeaway- classification for primary mito has changed over last 20 years.

7. Muscle Biopsy is NOT the gold standard anymore. Even with a positive muscle biopsy for mitochondrial disease, a primary mito diagnosis will not necessarily be given. Both Cohen and Parikh noted this in their talks. Dr. Sumit Parikh’s overview of Mito talk from this year’s symposium can be watched here.

8.Family Meeting- Dr. McCormack, CHOP endocrinologist This doctor gave quite a few pearls of wisdom about how the mitochondrial system and the endocrine system interact (talk can be viewed here).

#mito2014 high levels of steroids over a long period of time are TOXIC to#mitochondria look at- steroid myopathy in ICU patients

#mito2014 Symptoms of adrenal insufficiency low blood sugar, low blood pressure, low sodium levels esp with illness. FIRST STEP of hormone production is IN the mitochondria

#mito2014 high levels of steroids over a long period of time are TOXIC to#mitochondria look at- steroid myopathy in ICU patients

#mito2014 a lot of seizure meds disrupt vitamin D metabolism

#mito2014 Parathyroid dysfunction if calcium level are abnormal – consider 25-OHD level (vitamin D levels) optimal should be ABOVE 30 but higher is better..

9. Family Meeting- Clinical trials update- the leader in the race to a treatment for mito is still EPI-743 and an overview was given of the current clinical trials and hopefully FDA approval in the coming years. A few other smaller trials are popping up but they are narrow in focus (MELAS, etc). If the clinical update video is made available I will post it here.

10.Family Meeting- Medical Child Abuse and Munchausen By Proxy allegations and the impact of the Justinia Pellitier case has sent an earthquake (and many lingering shock waves) through the mitochondrial community. Dr. Korson (Justina’s doctor who diagnosed her with mitochondrial disease) gave this very informative talk about “Navigating the Challenges and Risks in Patient Care (in a world still learning about mitochondrial disease)” which the replay can be found here.


Plus +1

11. Dr. Korson presented a great talk on significance of specific lab values in mitochondrial disease. So many pearls of wisdom in this talk. (this talk is available for replay here).


Dr. Vockley kicked off the scientific session on the first day (along with co-organizer        Dr. Amy Goldstein) by saying this…. and I find it a good summary of the conference as well:


#mito2014 Vockley- single gene changes don’t sufficiently describe/account for the phenotype for mitochondrial disease… And mitochondria are complicated!!

I would whole-heartedly agree!! And add… we need to move BEYOND just SINGLE GENES and look much more closely at our ENVIRONMENT and GENE-ENVIRONMENT Interactions!

Editor’s Note- My personal highlight of the symposium was being able to see old friends and meet new ones! Getting to see this dear friend who came all the way from Texas to visit, topped my list! Miss her and her sweet boy! Her blog about the conference can be found here.

Editor’s Note- Here are a few more links that have been added by the UMDF to the video archives:

Scientific Summary Panel

Ask the Mito Doc – Adult 

Ask the Mito Doc- Child

SSI disability and transition from child to adult


Posted in Advocacy, Awareness, Genetics, Medical, Mitochondrial Disease, UMDF | Tagged , , , , , , , , , , , , , , , , , , , , | 1 Comment


The United Mitochondrial Disease Symposium is in Pittsburgh this year. Babyfoodsteps will be attending the scientific and some of the family sessions this year.

You can follow along!  HASHTAG: #mito2014Slide1

We will be live tweeting here.

And live “blogging/facebooking” here.

We would love if you would  follow along and share/retweet the info we post to help spread awareness about mitochondrial disease.

Please send us a message or leave a comment if you will be attending the meeting- we would welcome an opportunity to say hello!

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All About SOAP, the good the bad and the dirty!

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So really, how much can there be to blog about SOAP. Yes, Soap! The stuff we use (hopefully) daily to clean our hands and our bodies? Well turns out there is waaay more to know about soap than I ever realized and quite a few babysteps you can take to keep your family a little bit healthier and happier just by changing the way you SUDS UP!

So when exactly did SOAP hit my radar?? Probably after Lady A reacted to Alcohol and we went on a whole house rampage looking for anything and everything that contained this ingredient. Of course one of the main sources for alcohol was in HAND SANITIZING products including soaps, wet wipes and hand cleaner. Out it went and we went on a search for safe soaps that Lady A could use. We first found this goat’s milk bar soap that worked well and we could find at Whole Foods. But as Lady A entered pre-school we were searching for an option to replace liquid soap and hand sanitizer. After much searching and finding almost all the store-bought soaps filled with additives, preservatives, anti-bacterial agents and artificial fragrance, we decided to make our own.  We found               Dr. Bronner’s Baby Mild soap to be a good base and viola by adding water and a foaming pump, we had foaming hand soap. For a bit of scent we added a drop or two of essential oils that were Lady A safe (avoiding the peppermints, wintergreen and menthol for salicylates).

You can find our recipe here (and make your own)!

So once we figured out a few safe options for our family, I set out to research what the other soaps had in them and if it was really so bad after all… well, I am sure you won’t be shocked to know that YES, it is THAT BAD.

Just  a few highlights on one chemical in particular since most antibacterial soaps (nearly 75%!!) contain: TRICLOSAN as the active ingredient (the part that makes it an antibacterial vs. plain soap).

What is TRICLOSAN? glad you asked!

Triclosan, similar in its uses and mechanism of action to triclocarban, is an antibacterial and antifungal agent found in numerous consumer products, including soaps, detergents, toys, and surgical cleaning treatments. Its efficacy as an antimicrobial agent and the risk of antibacterial resistance remains controversial. Additional research seeks to understand its potential effects on organism and environmental health. source: Wikipedia 


You can follow a number of the policy issues involving Triclosan.

And what about antibacterial resistance?

Occurrence and toxicity of antimicrobial triclosan and by-products in the environment.

findings: “Furthermore, the excessive use of TCS (triclosan) is suspected to increase the risk of emergence of TCS-resistant bacteria and the selection of resistant strains.”


And as you know a topic near and dear to my heart- What is Triclosan’s impact on Mitochondria? Here is what the science is saying:


Effect of triclosan (TRN) on energy-linked functions of rat liver mitochondria

findings- “These results suggest that, besides its antibacterial effect, TRN can also impair the mitochondrial function of animal cells.”

and one more on muscle contraction in mice and minnows-

Triclosan, A Chemical Used in Antibacterial Soaps, is Found to Impair Muscle Function

Findings: “
In the first phase of the study, the researchers exposed individual human muscle cells, both from the heart and typical skeletal muscles, to concentrations of triclosan similar to what our bodies experience in everyday life. Then, they used electrical stimulation to cause the muscle cells to contract. Normally, electrical stimulations prompts an immediate muscle contraction—a mechanism that is responsible for the entirety of our muscle activity. In the isolated cells, though, exposure to triclosan disrupted communication between two proteins crucial for proper muscle functioning, causing failure in both the heart and skeletal muscle cells. The research team also tested the effects of the chemical on two types of live animals—mice and fathead minnows. In the mice, heart muscle function was reduced by as much as 25 percent after exposure to a single dose of triclosan, and grip strength was reduced by as much as 18 percent.”


Researcher speaking about her findings with Triclosan-


Did you hear her?? TRICLOSAN IS NO MORE EFFECTIVE THAN PLAIN SOAP!! Yet nothing is actively being done by the FDA regarding regulation of Triclosan!

Editor’s notes: Minnesota is the first State To BAN Triclosan starting in 2017.

So in conclusion…not all soap is created equal! Especially not antibacterial soap. As I was finishing up this post, I learned of a dear friend’s son who sustained a chemical burn to his retina after getting a foaming hand soap that contained triclosan splashed in his eye from a dispenser that was about eye level with a preschooler, at a local grocery store.  Over 80% of his cornea was burned by the soap and he is still recovering. God willing that he will regain his vision in that eye and that it will heal.  So judge for yourself… something so common, so ubiquitous, in every home, school, grocery store and bathroom, is it as safe as we all assume? Or do precautions need to be taken and regulations need to be changed to protect our kids and our own health?



Posted in Baby Step, Household chemicals, Mitochondrial Disease, Mitoxic, Toxins, Uncategorized | Tagged , , , , , , , | 1 Comment

Shoe Tying made Easy

Screen Shot 2014-05-15 at 2.18.24 PMI found a video about a year ago and posted it on our Facebook page  about an easy way to teach kids to tie their shoes. Everyone thought it was great and I used it to help my own kids with another (easier) option for teaching them to tie their shoes.  Well, recently I have been contacted by a few people asking where that video was and if I could send a link to it, to them. When I tried to find it again it took a bit of digging, so I figured I better do a blog post about it so I could easily find it again if anyone is looking for it!!

This method is great for ALL children but may work well with special needs kiddos or kiddos on the spectrum as well!


here is the original post by Ross Elementary School with the video:


and here is another website with a link to the video:


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Lemonade Stand Pie Makeover

Slide1 It is nearly summer time (even though Spring just arrived last week!)

My husband used to LOVE this recipe for Lemonade Stand Pie.

This week he asked me to make it since it has been FOREVER since we have had it.

Well…. there may be a reason we have not had it in a while. Since we have headed down this medical journey with our daughter, we have made ALOT of changes to our household from what we eat to what we clean with and quite alot in between. So as I looked at the list of ingredients, I was overwhelmed and a bit surprised to see JUST how many changes we have made (and just how many of the ingredients like cool whip- we don’t buy anymore!)…. all those babysteps have really added up to some BIG LEAPS!

So here is my attempt at “making over” this recipe… Babyfoodsteps (3Free) style!

2 cups  organic vanilla ice cream, softened

1/2 Can frozen Lemonade concentrate (undiluted)

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1 tub  (8 oz.) TRUWHIP, thawed
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ready-to-use organic graham cracker crumb crust (6 oz.)

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ADD frozen concentrate to bowl. Add ice cream; beat with mixer until blended. Whisk in TRUWHIP. Freeze, if necessary, until mixture is thick enough to mound. SPOON into crust. FREEZE 4 hours or until firm. Remove from freezer 15 min. before serving. Let stand at room temperature until pie can easily be cut.


Easy Peasy LEMONADE Squeezy! Next time I will make the Lemondade from scratch (when I am retired and have time to grow and squeeze the lemons!) In the meantime, I was able to cut out the dyes, preservatives and artificial gunk and still end up with a yummy dessert! Enjoy!


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What is a Microbiome? And what does it have to do with AUTISM?


It was about a year ago that I read this article written by Michael Pollan about The American Gut Project and became more familiar with the term “microbiome”. I have been familiar with the concept of gastrointestinal flora for many years (probably for at least 5 years, when I first read this book and met Dr. V when he did a presentation on probiotics and the 3lbs of bacteria that were in all of our digestive tracts, whoa, ewwweh!!). Despite that GI flora knowledge, this term “microbiome” was a newer one to me.

So what is a MICROBIOME??

A microbiome is “the ecological community of commensal, symbiotic, and pathogenic microorganisms that literally share our body space.” (source)

Here is a great video featuring Daniel McDonald talking about some of the bacteria living in all of our microbiome’s-

Which brings me to the question…

What does this have to do with AUTISM??

For many many years, parents of autistic children have been well aware of the gastrointestinal distress that autistic children experience. They have known that their children’s systems are overwhelmed by candida, clostridia and other bacterial overgrowths. Parents to autistic children are intimately aware that the (sometimes not so) solid waste that their children excrete is drastically different from their neurotypical siblings and not of “normal” consistency, texture or stench (sorry, trying not to get too graphic!!)

Recently though, mainstream medicine, including the American Academy of Pediatrics has recognized that GI “co-morbidities” is not just an anecdotal finding in autistic children.

Results indicate greater prevalence of GI symptoms among children with ASD compared with control children. (source)

In addition the AAP has issued a consensus report on the recommendations for treating gastrointestinal disorders in children with autism, here.

So when I heard that Arkansas Autism Alliance and N of One Autism Research Foundation were teaming up to present a Microbiome Symposium with a specific focus on AUTISM, I was intrigued and desired to learn more.

Read more here:

1st International Symposium on the Microbiome in Health and Disease with a Special Focus on Autism


and check out the amazing line up of speakers here. If you are able to attend, this is sure to be an amazing symposium… you can register here. If we are able to attend, you can be certain we will share with you what we learn… right here at!

Editor’s note- great resource on conference in 2013
Editor’s note- The Conference will be LIVE STREAMED!!!



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A Consumer’s Reflections on #ACMGmtg 2014

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Recently, I had the opportunity to attend the American College of Genetics and Genomics meeting in Nashville, Tennessee.  This opportunity was made available to me through a travel grant application I submitted through the regional genetics collaborative that I have become involved with (since moving to PA) called NYMAC. Upon being accepted into the consumer advocate leader’s program, which is jointly run by the NCC and ACMG with additional support from the regional collaboratives, I could not wait to get to Nashville to learn more about genetics!

In my application, one of the areas that I expressed a desire to learn more about was, “the crucial role that environment plays in genetic disorders, specifically epigenetics and genomics, and how this research can translate into increased quality of life for those impacted by genetic disorders.”  As I set off on my first day of lectures this overriding desire to learn more about this crucial interplay of gene/environment interaction was on my mind! Here is a recap of the sessions I attended during my week in the Music City:

Tuesday, March 25th

Special Satellite Meeting – Bumps in the Road: Novel and Innovative Ways for Ensuring Access to Care: A Community Conversation

This session was one of the highlights of the sessions I attended the whole week! Perhaps because it highlighted consumers and consumer experiences specifically young adults as they navigated their way through what is known in the medical world as “transition” (from pediatric to adult care). I also got to meet Malory, Owen and Jasmine, 3 of the most impressive young adult self advocates I have had the pleasure of meeting! The exciting news is Malory and Owen were part of our Consumer Advocacy group so I got to learn more about them and the amazing stuff they are doing throughout the rest of the week!

Wednesday, March 26th

Advocate Leader Program – Breakfast

Our days As consumer leaders would begin each morning throughout this week, but this first meeting was my favorite! It was a time for introductions, favorite you-tube video selections, tag lines and possible blog titles! It was so amazing to learn about these individuals from across the nation that were amazing advocates for their families and themselves! From Cystic Fibrosis to Down Syndrome, from fragile X to genetic conditions we could not pronounce and ones that some of us still searched for a name for, our group covered the gamut of “genetic” conditions. We also got to meet the genetic counselors we were paired with from University of Arkansas Genetic counseling Program.

Exploring Clinical Sequencing: What Have We Learned?

I attended this session because of our family’s personal experience with clinical sequencing. I found the talks on obtaining informed consent interesting because with all our testing experiences we have seen the gamut of fully informed to not so much informed consent counseling! I gathered from some of the presentation that this is an emerging area of study especially considering all of the incidental findings that are coming back in whole exome sequencing. Making sure that the family/patient truly understand these possibilities/options is a large part of the informed consent process. 
Lunch with the advocates and learning all about the Regional collaboratives and Consumer Involvement
For the afternoon sessions I went back and forth between these two: 

Developmental Brain Dysfunction: Rethinking “Penetrance” in Genetic Neurodevelopmental and Psychiatric Disorders

I was especially interested in this session because it involved developmental and brain dysfunction two topics our family has learned a lot about and topics that involve many of our friends (not just limited to the many many children we know on the AUTISM spectrum). This session began with a talk by Dr. Thomas Challman from Geisinger Health System that happens to be in Pennsylvania. I really enjoyed his perspective because he looked BACK in the literature and history and brought some of those findings to new light, given newer genetic research. He made a statement about studies and future research looking at reported causes of developmental delays should LUMP clinical diagnoses rather than SPLIT. Dr.Challman also spoke about developmental brain dysfunction as the basis for many other diagnosis that a child may have: autism, ADHD, motor, speech problems, etc. NOT mutually exclusive of one another! In addition he sited a very interesting study from 1911:A study of heredity in insanity in the light of Mendelian theory. Dr. Elizabeth Dykens gave a talk next and I really thought her quote was spot on, “phenotypes are messy”! Really wish she would have expanded on that beyond GENETICS… and included some environmental influence talk!  
FOR THE NON-GENETIC speaking readers: PENETRANCE= the proportion of individuals carrying a particular variant of a gene (allele or genotype) that also expresses an associated trait (phenotype). 
Meaning if a gene mutation does not have 100% penetrance then not 100% of the individuals who have that mutation will get the clinical disease (phenotype).

Manifesting Heterozygotes in Autosomal Recessive Disorders

I jumped over to this talk because ever since becoming aware of this paper and the concept of “synergistic heterozygosity” I have been keenly interested in those who are considered “normal” carrier status who seem to manifest with health issues. This session made it clear that the lines between single gene disorders (like Gaucher, PKU, CF) and complex multi gene disorders (ADHD, Diabetes, etc) are BLURRED!! But they are finding that individuals who are carriers (heterozygotes for my genetic speaking friends) are at higher incidence having some other conditions- like Gaucher carriers having parkinsonian features.  Of course my knowledge of mitochondrial disease and Parkinson’s, had me screaming in my head LOOK AT MITO and the ENVIRONMENTAL factors… but alas, again, no mention of this at this session.

Presentation of the 2014 ACMG Foundation and March of Dimes Awards and Presidential Plenary Session: Genetics and Genomics; Then and Now

 This session was overwhelming from the sheer number of people in one room! Wow! The March of Dimes Colonel Sanders (of Kentucky Fried Chicken Fame) was given to Dr. Buckley and Dr. Puck who did amazing amounts of research, test development and advocacy for SCID (Severe Combined Immune deficiency or the bubble boy disease). It was fascinating to hear them tell the story of their research and implementation of this life saving newbornscreening. The moment, though, that I had to take pause, was when they said the reason this screening is important  is for those infants whose immune system is not working, especially in the situation when the  live virus rotavirus immunization is given, which could cause fatal diarrhea in an unidentified SCID patient.  I thought of all the states NOT screening for this on newbornscreening and knowing that across the country this year children will DIE of “fatal diarrhea” caused by an immunization that is touted to save their life, all because their immune status was not known at birth.  This struck me to my core, because I know from my personal experience that SCID is not the only existing underlying “genetic” condition which is harmful when combined with certain “environmental” factors such as immunization; in our world, there are many many others, which need the level of research that these 2 doctors have poured into this condition.

Thursday March 27th

Oral Platform Presentations: Clinical Genetics

The morning started off with talks on Fetal Alcohol Syndrome and recognition of facial features from this condition using an iphone picture app. Another interesting talk was Dr. Carole Samango-Sprouse’s talk on Klinefelter Syndrome (47XXY) and how using hormonal replacement (testosterone injection) had a positive impact on behavioral symptoms of this condition. I met this speaker in the exhibit hall at the Focus table for this condition and she shared with me some of her recent research about Autism and early detection here.

Baby's First Test Poster ACMG 2014

POSTER SESSIONS- One of the highlights of this session was seeing the Baby’s First Test Poster and getting to read about my NEWBORN SCREENING project on it!! :)


Consumer Lunch- We had a great discussion about undiagnosed conditions with Dr. Debora Boeldt and Dr. Barry Thompson (former medical director of the ACMG). I really thought this discussion brought to light how many families are out there looking for answers for their children’s health conditions but not necessarily finding them based on current commercially available medical testing. Programs like the one Dr. Boeldt runs as Scripps are so important for many of these complicated kiddos but unfortunately limited in the number of families they can accept into them.

Point/Counterpoint: One Year Later – The Influence of the ACMG Recommendations for Reporting of Incidental Findings in WES/WGS

A little background on this session: “At the 2013 annual meeting, the ACMG Recommendations on Incidental Findings (IF) were announced and subsequently published in Genetics in Medicine. There was immediate, and sometimes heated, reaction to the recommendations, positive and negative. The debate has continued despite many molecular laboratories adopting the initial list of genes to report. This session, Point/ Counterpoint: One Year Later – The Influence of the ACMG Recommendations for Reporting of Incidental Findings in WES/WGS, the impact of the ACMG Recommendations one year after their release will be discussed. A panel consisting of a clinical laboratory director, clinical geneticists, an ethicist, a health law expert and a patient advocate will debate two of the major recommendations in the report – “opting out” and reporting of incidental findings in children. The forum will be moderated by award-winning journalist Joe Palca, science correspondent for NPR.” ~ from acmg website
This session was really eye opening because it brought to light the issues that are resulting in all the data that is coming back from exome sequencing- specifically the incidental findings. Making an informed decision as to which of those variants you would like to know about is a tough one for consumers especially if you have no genetics background. I though an interesting point that I had not considered before was that to “pick and choose” which variants you would like to know and which you wouldn’t would require a genetic counselor to counsel the consumer on each and every variant and what the significance was before they were tested or variants reported!! 


Friday March 28th

Highlights Plenary Session – Moving the Field Forward: Sharing Data to Better Interpret Genomic Variation and Obtain Comprehensive Phenotypes Through ClinGen

Data Sharing was a BIG topic of discussion at this meeting, and this plenary session was focused on just that. There were 3 presentations each addressing a different challenge of data sharing from determining clinical relevance to interpretation to reporting phenotype. This session made me wonder and question just what was the “standard” or “guidelines” for reporting, describing or determining if and what variants of unknown significance are well… SIGNIFICANT. Upon returning from the trip I consulted a few professionals in the field and realized that is still being sorted out and why data sharing is so important between labs and institutions. It seems that withexome  sequesncing coming into the clinical laboratory light, there is more data and more variants of unknown significance than anyone knows what to do with…

Recording Genomic Variation and Defining Clinical Relevance

Speaker David H. Ledbetter, PhD, Geisinger Health System

Interpretation Can’t Happen in Isolation

Speaker Jonathan S. Berg, MD, PhD, University of North Carolina at Chapel Hill

Reporting Phenotype: Speaking the Same Language,

Speaker David Miller, MD, PhD, Boston Children’s Hospital

During this session I also learned about THEICCG and tweeted this:  #ACMGmtg just learned about the intl collab of clinical genomics which can be found @THEICCG don’t forget the “THE” or you get conf for call girls #notgenetics !

Day of Caring ACMG 2014

ACMG Foundation – Day of Caring Bike Presentation

I was able to attend this session and connect with a few mitochondrial disease moms and kids that I had only known online until that day meeting them! This even was organized by the ACMG Foundation and donated bicycles to children with genetic conditions, including mitochondrial disease, Prader Willi, down syndrome, etc.  What struck me as interesting (perhaps because just a few weeks before I had attended a presentation in Pittsburgh for the “my bike” program through Variety) was that all the bikes that were donated seemed to be “regular” bikes, not adaptive bikes that I know many of the children there probably needed. Many of the mito (and other kiddos) were in medical strollers, or wheelchairs with 5 point harnesses and back/neck supports, yet I did not see one bike with this type of supportive seating.  I do think this was a generous show of support from the genetics community but wonder if the support could have benefited these very special kiddos even more by adapting and customizing these bikes to fit their unique needs, catering to their abilities while compensating for and supporting their disabilities, in a way that would keep them safe from future harm.

Poster Session II – Poster Presenters at Even Numbered Posters

During this session I had the opportunity to chat with a number of researchers and doctors about their interesting poster presentations, including Dr. Niyazov who I had met a few years back at the UMDF meeting in Washington DC. He has helped a number of friends children who are struggling with mito, other genetic disorders and autistic like symptoms.

Consumer Lunch

We had a discussion about epigenetics and other environmental influences on genomics. What I gathered from this lunch is that the word epigenetics means very different things to different people. One of the ACMG staff that was joining us noted that this was a really hot topic a few years ago at a meeting but has lost some momentum and she described the word epigenetic as being the environment around DNA inside the body, not necessarily how I had understood it to mean environmental (outside the body) influences on gene expression. Interesting conversation none the less, just wish these conversations were happening in the main sessions and not just among the curious consumers with a few professionals present.

Diagnostic Dilemmas (Rare Knowns and Unknowns)

This session I felt was one of the most interesting and “real life” events of the entire conference. The format was 8-10 genetic doctors presenting a few slides and symptomatology of their “toughest” cases, ones that their investigations thus far had not led to a diagnosis.  The audience, a packed house of geneticist, genetic counselors and attendees would step up to the mike and ask if they had tested this or that, considered this or that, etc. It was almost like watching a “House” episode but far from Hollywood, these were children of parents just like myself who were searching for answers….heartbreaking because a few of the cases had passed away or had siblings who had passed away from something similar.

Saturday March 29th~ Last Day

Cardinal Signs and Symptoms of Inborn Errors of Metabolism – Focus on the Brain

This was a fascinating session both from the perspective that it addressed one of my passions: conditions covered on newborn screening and that it focused on the brain and the neurological implications that metabolic conditions can have on that system. I was very sad to have missed the first talk by Dr. Carol Greene (because I was chatting with a few advocates at our last breakfast, and saying goodbye). Her talk was entitled,” 
Inborn Errors of Metabolism and the Brain – What You’re Seeing In Your Practice Even If You Don’t Recognize It” 
Some of the other talks addressed many conversations of interest in the mitochondrial world- including creatine and B6 and thiamine metabolism.  The Krabbe disease talk highlighted some of the challenges with implementing newbornscreening testing that involves a treatment (bone marrow transplant) that is invasive when the testing is not definitive enough to determine which children will absolutely manifest the condition without treatment. Here is a rundown of the other speakers and their talks:

Inborn Errors of Metabolism and the Brain – What You’re Seeing In Your Practice Even If You Don’t Recognize It

Carol L. Greene, MD, FACMG , University of Maryland

Brain Creatine and Autism: Can Therapy Change the Outcome?

Nicola Longo, MD, PhD, FACMG, University of Utah

The Disorders of Glycine Metabolism

Johan L. Van Hove, MD, PhD, MBA, FACMG, University of Colorado School of Medicine

Krabbe Disease: What Can We Learn From Newborn Screening for Lysosomal Storage Disorders

Melissa Wasserstein, MD , Mount Sinai School of Medicine

Glut1 Deficiency and other Metabolic Causes of Microcephaly – Recognizing Treatable Conditions

Lynne A. Wolfe, MS, CRNP, BC, National Human Genome Research Institute

Closing Plenary Session Revisiting “Duty to Recontact” in the Genomics Era: Interdisciplinary Perspectives & Open Forum (Funded by the ACMG Foundation’s Father Robert C. Baumiller Fund for Genetics and Society)

In this last session of the conference the topic of  “duty to re-contact” was discussed. For my non-genetic friends, this means if new gene discoveries are made and a variant of unknown significance becomes a deleterious mutation or the flip side- a family has been told child has terminal/neuro-degenerative condition and lab reclassified the mutation and finds it is not terminal condition, WHAT is the ethical duty for the geneticist/genetic counselor to RECONTACT the family to let them know.  This session began with a comical “play” with real life geneticists playing the part of distraught parents, and while I understand the intention to educate and illustrate while entertaining the audience on the last day of the conference, I couldn’t help but feel a tinge of uneasiness, pain and sorrow, as I watched played out before me on “a stage” what our family and so many of my friends and acquaintances had lived through in genetics offices all over the country… hope, anticipation, and the very real reality that a very expensive laboratory test that was supposed to yield some answers only yielded many more questions.  On the flip side, I sat in shock as I watched the FLIP side being played out in the drama of a family who was told a gene their child had, was identified as a neurodegenerative disorder only to be RE CONTACTED later and be told it was not neurodegenerative as the “actor/geneticist” wondered and hoped, “I really hope Johnny’s parents have not tried any of those alternative treatments that could have harmed Johnny,” as he makes the call you hear him telling Johnny’s understandably distraught angry father on the other end of the line, “I am sorry you have spent your life savings on a treatment for him but I am glad he is unharmed.” Wow, just WOW. I guess I have not known a family who this scenario has actually happened to, but I sat there in disbelief that it was happening and being discussed at this meeting. It further made me realize that again, the testing that is being done is yielding more data than ANYONE knows what to do with and annotating this genetic data in correlation with clinical symptoms and phenotype is no easy task, and one which a moral, ethical and legal responsibilities should NOT be taken lightly- these are the lives of children and families, my family, your family. Another stark reminder to me that genetics cannot be examined in a bubble without considering other factors, namely genetic influence. It is again my hope that this conference will consider exploring this interaction more fully in the future.  

Summary Tweet: #ACMGmtg what I learned: #genetics moving beyond single gene disorders, #WES gives you more data than you know what to do with, & environmental/gene influence was barely mentioned at this meeting.


A few other questions from NYMAC on my take-aways from this experience

  • How do you see attending the ACMG Annual Clinical Genetics Conference benefitting your role with NYMAC?

I believe this experience has given me an opportunity to connect with and network with consumers across the country and I believe this experience will only enhance my involvement as a consumer within NYMAC. By sharing ideas and finding out what is going on in other regions of the country can lead to collaborations and information sharing as well as partnerships for new projects across all regions. Interacting with the other consumers was absolutely the highlight of my experience at this conference, even though as parents and self advocates we were each dealing with very differently “named” conditions (or some not named yet at all). There was commonality in the journey and some of the very same struggles whether that be communicating with medical porfessionals, navigating insurance companies or determining the right course of action for working with a school district, there was comfort and commonality knowing that you were not in this journey alone!

  • Please specify at least one action item you would like to implement in NYMAC’s consumer collaborative network (CCN).

One action item that I would like to implement from this experience is to have more of a presence and resources for those who are on the undiagnosed disorders journey or those who have not reached a definitive diagnosis. I believe this group of individuals and families often get forgotten because they do not have a disorder identified on newborn screen or one that is diagnosed early. Yet, after meeting a number of other consumers at ACMG, nearly half of us were facing this still yet undiagnosed (definitively) journey. In talking with other advocates I realized this may be a time when a family needs  support and resources most but do not know where to turn because they do not know who to identify with, I am hopeful this is an area that as consumers in NYMAC , we could fill in.

  • What can we do differently to improve the consumer engagement?

I felt during the entire meeting that even though we were attending general sessions with professionals and researchers and counselors, that the consumer program was quite a bit separate from the ACMG meeting itself. There were a few panels that I felt may have been enhanced or benefitted from a consumer voice on the panels but instead there was only professional representation (even though some of the topics VERY MUCH involved consumers- such as returning incidental findings and re-contacting patients with variants reassigned). In addition, I think having the genetic counseling students more engaged in consumer education specifically genetic terminology could have been beneficial. I was familiar with some of the terminology but found that some of my peer consumer advocates were not. Sitting in sessions where a language of alleles, penetrance, heterozygosity and autosomal dominance are thrown around like “if, and and the”, one’s head can begin to spin if you are not familiar with the “lingo”.  A “genetics 101″ course taught on the first day of the meeting for the consumers by the genetic counselors in training, perhaps could even the playing field of consumers actively participating in some of the meeting sessions. On the way to the conference I bought a book called, “What’s in your Genes?”                            by Katie Mc Kissick.

whats in your genes

This very light-hearted approach to the simplify the science and make terms like deoxyribonucleic acid understandable in layman and laywomen’s terms, was the perfect way to transition my mind into genetics mode. Perhaps a book like this could help other advocates, navigate the “language” of the new country on this new diagnostic odyssey they have embarked on!

Last but not least…  swag you can only get at a genetics conference!

ACMG Exhibitor Giveaway


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