Babyfoodsteps will be taking a momentary hiatus from blog posting for the next few weeks as we relocate from the sunny south to the cooler north and begin a new step on this journey we call LIFE!
In the meantime though… if you have not purchased or read:
I highly encourage you to do so and join us the week of July 22nd to discuss the book in the Babyfoodsteps Virtual Book Club.
Here is how a Virtual Book Club works…
Read the book between now and July 22nd
On July 22nd (and each day of that week), I will post questions about the book on the Babyfoodsteps FACEBOOK PAGE, feel free to comment and add your thoughts as we virtually “discuss” the book on-line. Easy as that! Comment as much (or as little) as you like! Looking forward to an enlightening discussion.
After the week of questions I will post a recap of the discussion here on the blog (Like this one we did for “What’s Eating Your Child?” by Kelly Dorfman)
I look forward to talking with you in July… if not sooner!
Editor’s note- I am so honored to feature the first Guest Blog Post on Babyfoodsteps.com and even more honored to introduce Tiffany Blackden as our first guest blogger. Tiffany and I met through on-line connections and then had the privledge to meet in person last summer. Tiffany is incredibly knowledgeable about mast cell biochemistry as well as wholistic approaches to healing, which is why I asked her to post about this topic, our 4th and final post in our April 2013 series about Autism PREVENTION. Please join me in thanking Tiffany and welcoming her to babyfoodsteps!
When Kristi asked me to guest blog for her about connections with mast cells and autism, I was honored she would ask me. I respect her greatly for her work in educating parents and families about health topics. It’s just amazing how, through these difficult health journeys, us moms get connected with other mothers who are beating down new pathways for their own children. I am so grateful that we have crossed paths, and can share information with each other about our journeys with our children’s health challenges.
There are many speculations as to what leads to the development of autism. Although my son does not have autism, he does have mast cell activation syndrome, which is starting to be linked more and more with the pathophysiology of autism. I’ve found myself in groups with other moms of children with autism and mitochondrial dysfunction many times over the last two years. This is because many of my son’s lab markers are remarkably similar to children with both of these disorders. He has numerous food allergies and sensitivities (some not evident on blood tests as IgE allergies), low antioxidant and other nutrient markers, issues with digestion and absorption, and more. We have also found out in the last six months, that many of my children’s genetic variants match up with these children as well.
I worked with many children with autism in my early twenties, and my brother was diagnosed with PDD-NOS as a child (this was before the DSM-IV had created a category for Aspberger’s, or we believe he would have fallen under that diagnosis). Due to these experiences and family health history, we have been extremely careful with exposing our children to excessive amounts of biochemistry altering chemicals. We knew we possibly had a genetic predisposition to a biochemical process that could cause some neurological difficulties, and as it turns out, we do.
Almost two years ago, I attended a mast cell disorders conference where a leading mast cell researcher, Dr. Theoharis Theoharides, from Tufts Medical Center in Boston, said something that made my jaw drop. He said that one of 10 children with mastocytosis, a rare disease related to my son’s, have autism, you can read the full paper on mast cell activation and autism here
From the lab of Dr. Theoharis Theoharides:
“We reported that the prevalence of autism is ten times higher (1/10 children) in patients with mastocytosis than the general population (1/100 children). What makes this finding even more impressive is that mastocytosis is a rare disease occurring in 1/4000 children and is characterized by many hypersensitive mast cells in many tissues; once would, therefore, expect that the combined prevalence would have been 1/100×1/4,000=1/400,000 and not 1/10 children! We also found that the neuropeptide neurotensin, which is a potent mast cell trigger, is statistically much higher in the serum of autistic patients.”
Now that you understand that there is a link between these cells and autism, let me explain a little about mast cells. Mast cells are cells found throughout the body, most prevalent in border tissues, like the skin and gastrointestinal tract. Mast cells secrete protective inflammatory mediators, which help with healing injuries and killing off foreign invaders. These cells have over 110 different chemicals that are stored inside them in granules, the most famous of which is histamine. When an invader or injury occurs, the mast cells release these chemicals to protect our bodies or initiate healing. These are also the cells which are triggered when an allergic (IgE) reaction occurs. This demonstrates an IgE reaction with mast cells, but similar release of granules can occur without IgE allergies, when the mast cells are over reactive, as with mast cell activation syndrome or mastocytosis.
Mast cells are also in other places in the body, including as a border guard for the blood brain barrier. The blood brain barrier is a mechanism that is meant to keep the brain from being assaulted from many molecules which could be damaging to our brain cells. The blood brain barrier is not completely intact, or is still permeable, up to about the age of two. It also *becomes* more permeable at any age, when exposed to some chemicals in the body. This leaky blood brain barrier can make some chemicals more likely to enter the brain during different times, such as in events of stress, or when mast cells are activated. This paper shares details on how mast cell activation and autism may be related. On a related note, this paper describes the inflammatory cascade from mast cells caused by mercury.
One more report on allergic symptoms, mast cell involvement and children with autism that is worth a read states: “subjects with hypersensitive mast cells and/or ASD susceptibility genes may represent a unique subgroup of patients who are more likely to respond to environmental and stress triggers, leading to precipitating or worsening ASD.”
Now, knowing that many children with autism have non-IgE allergic and sensitivity reactions, this may have a connection with mast cell activation syndrome. There are lists of mast cell degranulators, which are triggers which cause the mast cells to release all of their chemicals in a cellular level explosion of sorts. This list is from the Mastocytosis Society of Canada.
Something else which helps many people who have mast cell problems is a diet low in biogenic amines. Mast cells have histamine receptors on the cell membranes, so histamine can trigger them to be more reactive. There is a possibility that lowering the systemic histamine levels can make the mast cells less reactive, and many with this disease have trouble with processing dietary histamine. There is an entire group of foods high in histamine, as well as other biogenic amines. Lowering our son’s dietary histamine has helped us dramatically, along with supporting his body in other ways. We have been studying natural health approaches for over a decade, and studying mast cells, histamine and other inflammatory mediators for the last two. In our journey, we’ve found that many other individuals with varying mast cell disorders have found help from our experience as well. At this point, I’ve presented information about lowering the body’s histamine burden, at two regional meetings of The Mastocytosis Society, and at the national conference in Seattle last October. This is a link to the most recent presentation at the Washington, D.C. regional meeting.
Currently in our journey to keep our children as healthy as we can, we have pursued some genetic testing. As it turns out, many of our children’s enzymes in the methylation cycle are affected by their SNPs, in fact, our son has both MTHFR and MAO A variants, which have both been linked to autism in studies. Two of the enzymes which break down histamine in the body are affected by enzymes in the methylation cycle: histamine methyltransferase and monoamine oxidase (A). Seeing all of these individual pieces linked with autism, mast cell activation and genetics, point me to an underlying metabolic issue with clearing chemicals from the body. Not that it’s our genetics that are causing autism, the unbelievable amount of chemicals in our world that make it impossible for these children to not be safe. It all makes me wonder why more consideration isn’t being given in mainstream care, to how these children’s bodies, livers in particular, are able to detoxify. Our body has to clear all chemicals we contact. Whether inhaled, ingested, injected or absorbed through our skin, our liver is still responsible for getting them out of our bodies.
I look forward to having more conversations with thinking moms around this subject. In fact, I would love to connect with more of you on facebook and Twitter, to further conversations about these difficult health challenges for our children, and how to better support them.
Pulling all of this together, it’s hard for us not to feel that we have ‘dodged an autism bullet’. We have been told by two doctors now, that if our son’s chemical burden through his life so far had been greater, our son would have likely experienced significant neurological inflammatory response. We know he developed neurological tics from several periods of time his histamine burden was high from exposures to chemicals outside our home. His genetic variants, clinical presentation and labwork have run parallel to many children we know with autism.
Some early ‘allergic’ signs and symptoms that one of our naturopathic doctors brought to our attention were eczema, cradle cap, foul diapers and really waxy ears. These are also warning signs of internal inflammation in the body, which could point to having adverse reactions to a significant toxic burden.
For those children who have allergies, sensitivities and inexplicable reactions to their world, there should be sirens going off in parent’s and doctor’s heads about their ability to clear chemicals from their bodies. This would apply to both exogenous (those entering the body from outside, which are abundant in our consumer world of plastics, products with heavy fragrances, free flowing medications and chemicals in our food), and endogenous chemicals (those made in the body, like hormones, inflammatory mediators, antibodies and more).
In our case, we will never know if our son would have ended up with autism if we made different decisions about our diet, lifestyle, birth support team, medications and vaccinations. What we do know is even exposures to small amounts of chemicals today have gross biochemical ramifications in his little body. These exposures can decrease the effectiveness of his blood brain barrier, increase systemic inflammation, negatively affect gastrointestinal function, pain levels in his body, and more. Many children with mast cell disorders or not, won’t have the level of sensitivities that my son does, but we’ve met scores of families with children exhibiting inflammatory processes that are baffling their doctors. Before adding more…more oral medications, more chemicals and viruses from vaccines, more topical steroids, it could be helpful, and even vital to our children’s health, to investigate the underlying cause of their systemic inflammation.
Tiffany Blackden is a warrior mom working to find answers for her children about health problems that baffle most doctors. She stresses that moms need to take care of themselves, find support, trust their intuition about their children’s health, and be very particular about the medical professionals a family hires. Her family page on facebook, where she posts medical information and research she is discovering is: http://www.facebook.com/blackdenfamily . She is also building out a new blog about her experience with mast cell challenges here: http://www.mastcellmadness.com
You can Read Part 1, 2, and 3 of this series here:
Topic number 3 for Autism Prevention Month is Nutritional Deficiencies and Vitamin Deficiencies…. Here are just a few of the scientific links that have been found between vitamin/nutritional deficiencies and autism. The real question is, which came first the autism or the deficiency? None the less, it is a place to start for prevention and recovery of those who already have an autism diagnosis- by correcting the deficiency! And the PREVENTION piece comes into play encouraging the medicla community and public health communities to test for these deficiencies at birth and in childhood… AND prenatally, because a deficiency in any of these nutrients in a pregnant mother can have a developmental impact on her unborn child. Here are just a few vitamin/nutrient deficiencies to look into:
Many, many studies have been published recently suggesting that Autism is not just influenced by GENETICS, but that ENVIRONMENT has a lot to do with this disorder also. For a while now, I have intuitively known that, as we have navigated the road of mitochondrial diagnosis for our daughter. We have explored many of the toxins that our bodies are exposed to that may have a contributing factor in Autism and particularly mitochondrial damage and dysfunction that can cause autistic like behaviors, due to the very real, very medical underlying conditions that ensue after the mitochondrial damage is done.
A study just published earlier this year, looked at mother (and father’s ) exposures to toxins through their occupation and the outcome of children born with autism using birth certificate data. The study found :
Our results indicate that mothers of autistic children were twice as likely as those of population controls to have a usual occupation reported at delivery that likely involved chemical exposure, particularly to disinfectants or to exhaust/combustion products. In contrast, paternal occupational exposure was not significantly associated. This may be consistent with direct effects on the mother or susceptible fetus in-utero vs. a more indirect mechanism for paternal exposure.
Some of the occupations and associated toxins that were looked at included:
So do ENVIRONMENTAL TOXINS have an effect on the growing number of children diagnosed with Autism…. we think there is a clear correlation that must be researched further!
Here are just a few of the toxins, specifically those that impact the mitochondria (MITOXINS) that we have explored at Babyfoodsteps. I am hypothesizing, that by avoiding some of these toxins that are found to harm our mitochondria, it may be possible to limit or prevent damage to the mitochondria that may result in Autism, thus lowering the prevalence of it. Also for those who may already be born with some mitochondrial challenges, avoiding an excess or onslaught of any of these mitochondrial toxins, may be the difference between health and disease for a person whose mitochondria are already burdened.
What other TOXINS are you and your family sensitive to? If you avoid them do you notice a change in BEHAVIOR in yourself or your children… is autism really a behavioral disorder… or is it the body’s way of avoiding toxins and expressing the pain (headaches, stomach aches, nausea, dizziness, etc.) from the damage they cause?
If you have read this blog for a while, you know that I am a passionate advocate for those with health challenges, including those with Autism. Though my daughter does not currently have an Autism diagnosis, as we have met others who are confirmed or suspected of mitochondrial disease, it has become clear that the 2 conditions are closely intertwined. Last year through Facebook and this blog, I did a lot of “Awareness” posting about Autism. This year though, I am in a much different place, emotionally and educationally in my quest to put all the pieces together. I truly believe that this country needs no more AWARENESS… recent figures have estimated that 1 in 50 School Age children have Autism. There is hardly a mom, dad, grandma, grandpa, aunt, uncle, school teacher, or community leader that is not impacted in some way by Autism. We are all WELL AWARE… AUTISM is an EPIDEMIC. Many organizations are calling for AUTISM ACTION this month, which I whole heartedly support. But in an effort to keep one more parent from going down the path that we have been on with our family and that so many are on with their children, I am choosing to share what I have gathered regarding some theories that may lead to Autism PREVENTION, in hopes that one LESS child may receive this diagnosis…and NOT one MORE.
Associations regarding family history of type 1 diabetes and infantile autism and maternal history of rheumatoid arthritis and ASDs were confirmed from previous studies. A significant association between maternal history of celiac disease and ASDs was observed for the first time. The observed associations between familial autoimmunity and ASDs/infantile autism are probably attributable to a combination of a common genetic background and a possible prenatal antibody exposure or alteration in fetal environment during pregnancy.
After adjustment for maternal factors, only 1 autoimmune condition, psoriasis, was significantly associated with ASDs (adjusted odds ratio, 2.7; 95% confidence interval, 1.3-5.8). A greater than 2-fold elevated risk of ASD was observed for maternal asthma and allergy diagnoses recorded during the second trimester of pregnancy.
The most common autoimmune disorders in both groups were type 1 diabetes, adult rheumatoid arthritis, hypothyroidism, and systemic lupus erythematosus. Forty-six percent of the autism group reported having relatives with rheumatoid diseases, as compared to 26% of the controls. Prenatal maternal urinary tract, upper respiratory, and vaginal infections; asphyxia; prematurity, and seizures were more common in the autistic group, although the differences were not significant. Thirty-nine percent of the controls, but only 11% of the autistic group, reported allergies. An increased number of autoimmune disorders suggests that in some families with autism, immune dysfunction could interact with various environmental factors to play a role in autism pathogenesis.
A total of 1596 patients with ASDs were identified, and were found to have a significantly higher prevalence of allergic and autoimmune diseases than the control group. Patients with ASDs had increased risks of asthma (OR = 1.74, 95%CI = 1.51–1.99), allergic rhinitis (OR = 1.70, 95%CI = 1.51–1.91), atopic dermatitis (OR = 1.52, 95%CI = 1.30–1.78), urticaria (OR = 1.38, 95%CI = 1.12–1.69) and type 1 diabetes (OR = 4.00, 95%CI = 1.00–16.00), and a trend toward increasing comorbidity with Crohn’s disease (OR = 1.46, 95%CI = 0.90–2.35). Our results support the association between ASDs and allergic diseases, and autoimmune comorbidities (type 1 diabetes and Crohn’s disease).
It turns out this is NOT A NEW CONCEPT… here is an article from 1971 showing a connection with Autoimmune conditions in a family with autism, making me wonder just how many children with autism today, also have autoimmune conditions that go undiagnoses because the “autism” is found first and many of the other “symptoms” are attributed to that.
A family is presented to demonstrate the rare phenomenon of early infantile autism in the presence of autoimmune disease. The youngest son in the family has a multiple diagnosis of autism, Addison’s disease, and moniliasis. The next older brother has hypoparathyroidism, Addison’s disease, moniliasis, and diabetes mellitus. The next older brother has hypoparathyroidism, Addison’s disease, moniliasis, and alopecia totalis. The oldest son and first born child in this family of four is, along with the parents, symptom free. Whereas autism in the youngest son might be attributed to the traumatic family situation, in which there exists the constant threat of near-death, it might conceivably be attributed also to a primary effect of autoimmune impairment from the formation of autoantibodies affecting the central nervous system.
moniliasis= any of a variety of infections caused by fungi of the genus Candida, occurring most often in the mouth, respiratory tract, or vagina. Compare thrush (aka YEAST INFECTION)
For a number of year the Government has been looking into this also, and funding research specifically through the IACC (Interagency Autism Coordinating Committee), though it is unclear what the consensus is or what preventative measures can be taken NOW.
Question 3: Short-term Objective E
$1,162,678.50
3SE. Support at least two studies to determine if there are subpopulations that are more susceptible to environmental exposures (e.g., immune challenges related to infections, vaccinations, or underlying autoimmune problems) by 2012. IACC Recommended Budget: $8,000,000 over 2 years.
While are these studies are great at investigating if there is a connection between autoimmune disorders, family history and autism, none of them offer any hard and fast solutions as to what can be done to PREVENT it.
On the subject of what I see in my office, I’d like to say that the studies you have referred to today do not apply to my patients. A running theme of older fathers, more educated parents, or children born less than a year after their older siblings is NOT what I see. But here is what I DO see in our patients:
1) Military children vaccinated (the word vaccine or any derivative of, was never murmured in this meeting until the mothers stood to speak at public comment) repeatedly because their records do not follow them fast enough
2) Premies and sick newborns being vaccinated
3) And the biggest running theme: family histories of autoimmune and bipolar diseases.
…
Most vaccines are contraindicated for those with immune system issues. So I would like to point out that it is irresponsible to jump into vaccination with newborn babies when the status of the immune system and mitochondrial function are unknown.
…
In conclusion, I suggest:
A sticker on the outside of the pediatrician charts denoting an autoimmune family history so that full vaccination does not occur. I believe this would alleviate the incidence of the sick children coming into my office.
Talk to your family,ask questions, know your family history, know the risks of Autoimmune Disease and Autism and make informed medical decisions for you and your child.
Only selected publications are highlighted above, Click HERE to browse ALL the PubMed journal references for MTHFR polymorphisms (nearly 5000 total in 3/13)
4. What are the Basics?
MTHFR Heterozygous versus Homozygous video
5. What are the Environmental Influences may impact this SNP? (Vaccines, medications, foods, vitamins, toxins)
In another study 131 healthy volunteers from 2 independent smallpox vaccine studies were genotyped across 386 genes and assessed for local and systemic AEs.11 The authors reported that genetic polymorphisms in genes expressing an enzyme previously associated with adverse reactions to a variety of pharmacologic agents (ie, the methylenetetrahydrofolate reductase, MTHFR, gene) and an immunologic transcription factor (ie, the interferon regulatory factor-1, IRF1, gene) were associated with local and systemic AEs (an oral temperature >38.3°C, generalized skin eruptions, or enlarged or tender regional lymph nodes) after smallpox vaccination.
The presence of a nonsynonymous SNP (rs1801133) in the methylenetetrahydrofolate reductase (MTHFR) gene was associated with the risk of Adverse Events in both trials (odds ratio [OR], 2.3 [95% confidence interval {CI}1.1–5.2] [P = .04] and OR, 4.1 [95% CI, 1.4–11.4] [P<.01]). Two SNPs in the interferon regulatory factor-1 (IRF1) gene were associated with the risk of AE in both sample sets (OR, 3.2 [95% CI, 1.1–9.8] [P = .03] and OR, 3.0 [95% CI, 1.1–8.3] [P = .03]). Genetic polymorphisms in genes expressing an enzyme previously associated with adverse reactions to a variety of pharmacologic agents (MTHFR) and an immunological transcription factor (IRF1) were associated with AEs after smallpox vaccination in 2 independent study samples.
Low-dose methotrexate (MTX) is part of the mainstay of rheumatoid arthritis treatment. Hepatotoxicity is among the most feared side effects of low-dose MTX and is associated with increased morbidity. These candidate genetic markers include polymorphisms in the gene encoding the enzyme MTHFR.
6. What impact does this have on pregnancy and children and Autism risk?
The state of California is screening for MTHFR (as a grouping of disorders called re-methylation defects) on Newborn Screening. More info HERE (CA info) and HERE (NBS method info).
Listen to this 4 part series by Dr. Neil Rawlins and OB/GYN in Washington State.
Two years ago, I was doing some Internet research regarding newborn screening and mitochondrial disease. Back then we had recently been told by doctors that this was the genetic condition they thought our daughter may have. So I was looking for information on whether conditions like this were screened for in Texas and came across this website: www.Mountainstatesgenetics.org . I called the number listed and spoke with Liza Creel, the project coordinator for the program. She gave me some resources and told me about their organization and said to call them back if I had any other questions.
Little did I know that phone call would be the first contact with an organization I am now working with! Through my time on the 2012 Baby’s First Test Consumer Task Force, I was reintroduced to the MSGRC and joined their consumer advocacy work group. Then later last summer, I interviewed for a job with MSGRC. Viola! I am now working with the MSGRC as their social media coordinator since October. I have had the awesome opportunity to help them update their website, build a Facebook page and jump into the world of Social Media!
This weekend, I was honored to attend the MSGRC annual meeting in Phoenix, AZ as a member of the consumer advocacy work group (along with some Facebook page updates, as well).
As I am headed home, I have lots to share about my experience at the MSRGC meeting!
Here is my TOP TEN (+1) list of what I learned at the MSGRC meeting
(though too long to write here, it should actually be probably a TOP 100+ list)
1. The meeting started bright and early on Sunday morning with the consumer advocacy work group. This is an amazingly dedicated group of consumers, either with children or themselves impacted by genetic conditions. I had the honor of presenting my project that I completed for Baby’s First Test along with my colleague from the task force, Bill Morris, who presented his project and foundation, Grey’s Gift.
2. Evaluation was a key message that ran throughout the meeting. The MSGRC (like all the other collaboratives) have been tasked with program evaluation and measurement of their goals and achievements. I quickly realized as we worked through some of the evaluation exercises with the excellent evaluator Sharon and her graduate students, that evaluating projects that cover an 8 state region is a much more challenging task than evaluating and measuring something in the laboratory, where a numerical value is often printed off an instrument!
3. During the next main session a number of the national partners to the MSGRC region presented updates on their organization. Dr. Bocchini representing the SACHDNC presented on the current status of the upcoming meetings, in light of the fact that the funding for SACHDNC will be expiring soon (Newborn Screening Saves Lives Act). There will be a webinar in April, just before the legislation expires. Personally, I am hoping this legislation gets renewed quickly! I was also excited to hear about the National Genetics Education and Consumer Network (NGECN) being launched by Genetic Alliance in support of the National Coordinating Center’s objectives. From my work with Genetic Alliance on Baby’s first Test, I know they are a consumer focused organization with great programs!
4. The evening session was focused on CCHD (Critical Congenital Heart Disease- pulse ox). There were some really great speakers including Dr.Guillory and Dr.Wong from Texas who are leading the TxPOP program (training nurses in pulse ox monitoring) and Dr. Puntel From Arizona who demonstrated how using telemedicine it was possible to train pediatricians to do EKG screenings remotely while, he, a cardiologist, reads them prior to determining if a child may need to be transferred to a hospital which could perform an EKG ( the cost of the remote equipment and telemedicine set up cost almost as much as it costs to transfer/test/diagnose/and treat one child, allowing for a huge cost savings by doing this screening remotely.)
5. At dinner I had the pleasure of learning a lot from those at my table, about the LEND program in Utah and Nevada:
Leadership Education in Neurodevelopmental and related Disabilities
LEND is a program that is grant funded by the Maternal and Child Health Care Bureau (U.S. Department of Health and Human Services). The aim is to shape future leaders in health care and health policy for the United States. Grants are awarded to agencies that can provide this training.
This program sounded so interesting to me and I hope to look more into the Texas equivalent, when I get home and a few seconds to research it!
6.Newborn screening laboratory breakout session. It was really an honor to sit in on this session. I really enjoyed listen to the “lab” stuff including discussions on quality improvement projects presented by a biochemist from ARUP lab. I felt the discussion which followed summarized the power of the regional collaborative in a nutshell. Basically 3 states represented at the meeting realized they were all having the same sample collection/lab concern, yet they all thought they were the only ones having it because they were being told by the powers that be, that there were no issues. Having realized that it was not isolated to one state, gives them the leverage now to investigate further why at least 3 states are having the same concern, and hopefully get closer to a solution!
7. Newborn screening Workgroup main session was filled with lively discussions about evaluation measures, including focusing on what is the 5 year goal and the activities needed to reach that goal. The table I sat at included an excellent perspective from a pediatrician who noted that having NBS results available in the electronic health record by the 2wk visit, and then having the parents request to discuss those results (and the pediatrician offer too!) was her goal. I could not agree more… and hope one day NBS results will be presented and discussed with parents at the 2 wk appt all over the country!
8. Medical home work group. The term “medical home” is a new one to me in the last year or so. Here is a definition, a video, and a resource for more info. This work group included a presentation by a fellow consumer advocacy workgroup member, Brad Thompson, a parent of a child with special health care needs. Brad created a model of a parent liaison/ medical partnership in his family’s hometown in Texas, that he is now implementing in other states in the region. It is an amazing concept and one which I hope can be duplicated in other areas including my own! Another great presentation was by Gina Pola-Money and Chuck Norlin, about the Medical Home initiative in Utah, including this great Resource: The Medical Home Portal.
9. Emergency preparedness workgroup.Although, I only had the chance to be at this workgroup for a short time, and after presenting about the social media/website info I had to head to the next workgroup to present, from what I heard later though from my fellow advocates and colleagues, there were lots of great discussions. An emergency can come in lots of shapes and sizes and can impact everything from laboratory and followup screening for newborns to food and formula supplies for those with metabolic disorders.
10. Telemedicine workgroup. This workgroup is a fascinating one to me, perhaps because we have participated in telemedicine type genetics services for our daughter. An interesting project was presented by a doctor from Cooks Children Hospital in Dallas about how this group is using genetics coupled with telemedicine to service those who may live far from the hospital. I look forward to learning more about this groups projects and endeavors, as I truly believe tele-medicine is the wave of the future and a cost-savings one at that!!
+1) hemoglobinopathies Interest Group
On the last day of the meeting I had the opportunity to sit in on the hemoglobinopathies interest group. This group is led by Dr. Kathy Hassell, one of the program directors for the MSGRC. Dr. Hassell is passionate about this field and particularly in treating ADULTS with these type of blood disorders, which I discovered is a rarity in the genetics/hematology field, since there are many more specialist trained to see children. Sickle Cell disease is just ONE of the many types of hemoglobinopathies, and I found out the MOST COMMON screened for disorder in Newborn Screening panels. I look forward to learning more about this group of disorders in the future.
Whew! What a weekend…jam packed full of lots of great people and lots of great info!
If you are interested in taking part of the GENETICS conversation in your state/region… click here to find your Regional Collaborative and call them up and let them know you would like to find out ways you can participate and help out!
Just over a year ago, I received an exciting email notifying me that I was selected to be part of the Baby’s First Test Consumer Task Force for 2012. What an amazing year it has been… Here is a recap of my year on the Task Force and my awareness project that I completed as part of it!
I learned so much in the first few months on the task force with the webinars and guest speakers who brought us up to speed on all the aspects of newborn screening from helping us become familiar with all the acronyms and governmental and state agency involvement to the nuts and bolts of what it takes to run a NBS program, the Baby’s First Test team made sure it was all covered. Learning about all of these different aspects led me to write my first blog post in March called “What is Newborn Screening?” in an attempt to begin to share what I was learning with my blog readers and my friends and family, through Facebook.
In May, I had the amazing opportunity to travel to Washington, D.C. to attend and help present a public comment to the Secretary’s Advisory Council on Heritable Disorders in Newborn and Children (SACHDNC). At this meeting, I got to meet in person the other members of the task force, the Baby’s First Test staff and so many influential people in the newborn screening community. It was an incredible experience and I posted this blog post, “What I Learned about Newborn Screening at SACHDNC” when I returned. Returning from that meeting, my wheels were spinning and my mind was full of ideas as we entered the awareness project portion of the grant and task force requirements. I set right to work beginning to “design” my awareness materials. After much googling, sketching, and brainstorming, I decided on a baby foot as my “theme” and cut out some “prototypes” from some scrapbook paper. What started as a simple concept- a baby foot with a Band-Aid to represent the heel prick that baby’s get as part of newborn screening… developed over the next few months into a full blown awareness project!
In June, my awareness project took me back to Washington,D.C. to attend a conference for the United Mitochondrial Disease Foundation. My daughter is suspected of having this disorder, and so I welcomed an opportunity to meet and to talk to other families going through a similar experience as we were. I passed out many feet on my travels and meetings and found quickly that not many families were aware that some types of mitochondrial diseases were being screened for in some states. After speaking with the UMDF about this, I was thrilled that they agreed to put some info on their website about Newborn Screening, for parents and caregivers.
As September arrived, I was all geared up for my big LAUNCH of my project virtually and in person. With September being Newborn Screening Awareness Month, I took to the web-o-sphere, as I launched my web campaign through my blog, called 10 Fingers 10 Toes, 10 Facts about Newborn Screening that you need to KNOW. With September also being Mitochondrial Disease Awareness week, I wrote about the connections between Mito And Newborn screening and about our family’s story. I ended the month with a weeklong series about newborn screening in Texas, called Texas Born: Newborn Screening in the Lone Star State. This series featured 6 family’s stories, from parents and children who were both saved and lost due to Newborn Screening in Texas. I topped the month off with a final post featuring a video that my son helped me put together highlighting the 10 fingers, 10 toes, and 10 facts!
20 folders for OBGYN ad Pediatricians x 20 feet each= 400
10 folders for my consumer task force members x 10 feet each = 100
55 (or so) feet handed out at the UMDF conference and to pregnant moms I met along the way=55
400 + 100 + 55 = 555 feet!
It is my hope that everyone that receives a “baby foot” and information about newborn screening will share with at least 2 other people what they have learned.. then nearly 1,700 people will have life saving information, that they may not have known about before. And then if each of those 1,700 people tell 2 more people… well you get the idea! As my term on the Baby’s first Test Task force draw to a close, I wish my BABY FEET luck on their continued journey of hope, education and awareness!
When I heard about this study (listed below) a few weeks ago, I was so grateful that a group of practitioners were continuing to further explore what a small group of parents and I have been exploring for the past years with our children that there may be a larger connection between oxidative stress, biomarkers for methylation and our children’s clinical health, than others have once believed.
A little bit of background, In the past few years, there have been a number of papers which have shown small groups of autistic children have mitochondrial disease and dysfunction (More here, here, and here). As well as a number of studies looking at biomarkers for oxidative stress in children with autism (read more here, here and here). This study will look at subgroups of these populations and attempt to quantify, compare and contrast those oxidative stress biomarkers in a larger group of children than has previously been studied.
Please take a moment to share this study with someone… a friend who has an autistic child, a speech or occupational therapist who may have contact with a number of autistic children daily, or a pediatrician or other medical practitioner who may have quite a few patients who may qualify for this study. This is not a treatment study and will require: “collection of a blood sample and an evaluation of behavior, development and language (unless your child is typically developing).” However, it will gain the much-needed data to further investigate the connection between mitochondrial disease and autism as well as move a step closer to earlier screening and intervention through bio-markers measured through blood.
Defining subgroups of mitochondrial disease and dysfunction in autism spectrum disorder
Study Description:
Researchers at Arkansas Children’s Hospital Research Institute are conducting a study examining mitochondrial function in children with Autism Spectrum Disorder. The study will address how mitochondrial dysfunction is related to abnormalities in oxidative stress and how it is related to development and behavior. The study will assess mitochondrial function in several groups of children ages 3-14 years of age, including those with autism spectrum disorder, mitochondrial disease, developmental delays as well as those that are typically developing. The study consists of collection of a blood sample and an evaluation of behavior, development and language (unless your child is typically developing).
Study Eligibility:
We are recruiting children between the ages of 3-14 years who fall into one of the following groups:
1. Typically developing
2. Diagnosed with Autism Spectrum Disorder using gold-standard criteria
3. Diagnosed with Mitochondrial Disease
4. Diagnosed with both Autism Spectrum Disorder and Mitochondrial Disease
5. Diagnosed with Developmental Delay without Autism or Mitochondrial Disease.
Below are just a few of the reasons Baby{Food}Steps believes
Vitamin D should be checked and measured at least one time a year for every MAN, WOMAN, and CHILD… and if the level is below 40-60 (ng/ml), should be supplemented and/or augmented with food and sun exposure! (with your doctor’s supervision and monitoring)
1. Vitamin D is the SUNSHINE vitamin!
A fat-soluble vitamin occurring in several forms, especially vitamin D2 or vitamin D3, required for normal growth of teeth and bones, and produced in general by ultraviolet irradiation of sterols found in milk, fish, and eggs. Source
2. Vitamin D levels drop in the winter-time and drop depending where you live!
This is due to lessened hours of daylight and thus lessened sun exposure, with the peak vitamin D levels occurring in September (just after summer) and the dip in D levels occurring in February click here to see DATA and source.
Anyone lives that a latitude above Atlanta GA, you cannot make any Vitamin D (from sunlight) in the winter months (November-February). Time of day is important too! Even in the summer time… most Vitamin D production occurs between 10am-3pm. source
3. Vitamin D production is REDUCED by SUNSCREEN.
In our haste to prevent our children from the “harmful” rays of the sun and slathering them with sunscreen before they step outside to play, are we doing more harm than good? I am not saying that sunscreen is a bad thing, but SOME BARE SKIN exposure EACH and EVERY day without sunblock is crucial, too, for our children’s ability to maintain vitamin D levels!
Sun avoidance practices, melanin in pigmented skin, and sun protection creams (sunscreen), if used properly, can dramatically reduce vitamin D synthesis. source
4. Vitamin D may be MORE effective than a flu shot, even at low dose supplumentation.
Vitamin D3, even when taken in low daily dosages, has been found to slash your risk of developing the flu by 42%. source
5. The drop in Vitamin D levels in the winter may account for the “flu season”.
2,000 IU of vitamin D per day abolished the seasonality of influenza and dramatically reduced its self-reported incidence source
6. The RDA for Vitamin D in the USA may be inadequate for YOUR CHILD’s health.
The cutoffs for lab values which mark a Vitamin D as normal, may not be normal or adequate for optimal health.
For instance on a recent Quest Diagnostic test cutoffs say that 30-100ng/mL are normal ranges, yet there is a growing body of scientific evidence that is showing that a range in the 40-60mg/mL range is ideal (source). However the official US government recommendations for vitamin D levels (as noted in the graphic below), recommend that levels at or above 20 ng/mL are adequate for health, which may not be the case. source
7. Vitamin D is the precursor to GLUTATHIONE in the BRAIN!!
1,25-(OH)(2)D(3) can also inhibit the synthesis of inducible nitric oxide synthase and increase glutathione levels, suggesting a role for the hormone in brain detoxification pathways. source
8. Vitamin D has an impact on your IMMUNE SYSTEM and our ability to fight infections/viruses:
INFLUENZA-see above
HIV/AIDS-
Higher vitamin D levels were associated with a slower progression of HIV to AIDS.
Women with vitamin D levels above 32 ng/mL (80 nmol/L) had a 25% lower risk of disease progression. source and source
MRSA-
In the United States, people with vitamin D deficiency were twice as likely to have MRSA bacteria in their nose. source
9. Vitamin D has an impact on some children with AUTISM.
Vitamin D deficiency–either during pregnancy or early childhood–may be an environmental trigger for ASD in individuals genetically predisposed for the broad phenotype of autism. On the basis of the results of the present review, we argue for the recognition of this possibly important role of vitamin D in ASD, and for urgent research in the field. Source
10. Vitamin D has an impact on those with ASTHMA.
Children with asthma appear to be at increased risk of vitamin D insufficiency. source
11. Vitamin D has an impact on those with DIABETES.
Dietary vitamin D supplementation is associated with reduced risk of type 1 diabetes. Ensuring adequate vitamin D supplementation for infants could help to reverse the increasing trend in the incidence of type 1 diabetes. source
12. Vitamin D has an impact on THYROID Function.
Significantly low levels of vitamin D were documented in patients with AITDs (autoimmune thyroid diseases) that were related to the presence of antithyroid antibodies and abnormal thyroid function tests, suggesting the involvement of vitamin D in the pathogenesis of AITDs and the advisability of supplementation. source
13.Vitamin D has an impact on HEART Health.
Vitamin D deficiency and consequent hypocalcaemia are seen in association with severe and life-threatening infant heart failure. source
Vitamin D supplementation has great benefits as an anti-inflammatory agent in infants with Congestive Heart Failure. source
14. Vitamin D has an impact on CANCER PREVENTION.
It is projected that raising the minimum year-around serum 25(OH)D level to 40 to 60 ng/mL (100-150 nmol/L) would prevent approximately 58,000 new cases of breast cancer and 49,000 new cases of colorectal cancer each year, and three fourths of deaths from these diseases in the United States and Canada, based on observational studies combined with a randomized trial. Such intakes also are expected to reduce case-fatality rates of patients who have breast, colorectal, or prostate cancer by half. There are no unreasonable risks from intake of 2000 IU per day of vitamin D(3), or from a population serum 25(OH)D level of 40 to 60 ng/mL. The time has arrived for nationally coordinated action to substantially increase intake of vitamin D and calcium. source
Click on Graph for LARGER view Disease Prevention depending on Vitamin D supplementation
Here is a graph that SHOCKED ME… look at all the conditions (including Cancer) that’s incidence can be lowered by increasing one’s Vitamin D level.
15. Vitamin D is important for PREGNANCY and INFANTS too!
Studies have shown that supplementation up to 4,000IU (well above the 400IU that are recommended ) are safe for pregnant woman and the study even showed that there were lower rates of infections and lower rates of complications in birth (preterm labor, pre-eclampsia, pre term birth) (50% decrease comparing the 4000IU group vs. 400IU group) source
Two more great videos on pregnancy and breastfeeding and Vitamin D are HERE and HERE !
For Results: If you already have had testing done, make sure you know what UNITS (ng/ml or nmol/L) your level is reported in, you can convert them here:
Each person is different and will require different amounts of supplementation to reach an ideal level, but here is a CHART that may help as a guide.
Your options for repletion include ORAL supplementation (in the form of a pill, liquid or gummy, of Vitamin D2 and D3) OR UV radiation (from the sunlight or artificial tanning lamps).
And HERE are some more recommendations for repletion of deficiencies. As with any other supplementation…please check with your doctor FIRST!
How much is too much? Vitamin D Toxicity:
As with anything… too much of ANYTHING can be toxic. How much is too much is completely different from person to person depending on our biochemistry. Here are some guidelines that may be helpful though.
Vitamin D toxicity can result from regular excess intake of this vitamin and may lead to hypercalcemia, hypercalciuria, and excess bone loss. Individuals at particular risk include those with hyperparathyroidism (overactive parathyroids), kidney disease, sarcoidosis, tuberculosis, or histoplasmosis (examples of immune disorders).
3SE. Support at least two studies to determine if there are subpopulations that are more susceptible to environmental exposures (e.g., immune challenges related to infections, vaccinations, or underlying autoimmune problems) by 2012. IACC Recommended Budget: $8,000,000 over 2 years.
