Did you know that prenatal alcohol exposure can affect the eyes and the connections to the brain?
For babies with FULL Fetal Alcohol Syndrome, the measurements of their eyes help them get diagnosed. We can SEE their FAS diagnosis. It is not hidden. But what is hidden and missing from the equation is how that prenatal alcohol has affected those eyes and what has developed under the eyes.
Mac was seen shortly after we got him at l7 months by a pediatric opthalmologist at the UW who saw that he had what she thought were pale optic nerves. She put in an order to get an MRI of his optic nerves. She informed me that fairly often babies with Full Fetal Alcohol Syndrome can have optic nerve hypoplasia. Digging into the literature I found the statistic. Some say up to 40% in a couple of studies. With doing a search of the research it is very well known the universally kids with Fetal Alcohol Syndrome have ONH. Optic nerve hypoplasia.
Mackie has full FAS. He also has strabismus, ptosis and severe light sensitivities. His retina is affected by prenatal alcohol. He had been given glasses as a teeny tiny infant and would never wear them.
The Pediatric Opthalmologist ran a test called a VEP. Visual Evoked Potential/Response (VEP/VER) measures the electrical signal generated at the visual cortex in response to visual stimulation. It was abnormal. Delayed Visual Maturation was the next diagnosis. A big clue that the connections from his eye lenses to the brain were not working well. But Mac was 21 months old. Something was abnormal.
He didn’t see toys, he didn’t look to peoples faces. He didn’t visually this or that leading to a diagnosis of AUTISM SPECTRUM DISORDER with a Ados score of 27, moderate to severe autism.
In time we would find more and more struggles with Mac’s vision. Alternating Amblyopia, Strabismus, Pursuit dysfunction, Convergence insufficiency and with help from our Special Education Director a functional vision assessment was done. She looked at how Mac uses his vision. And he began school with his Visual impairment as part of his qualifying factors for his Special Education services at 3.
Time and knowledge of the understanding of Visual Processing and Mac’s challenges would lead to a diagnosis of CVI, Cortical Visual Impairment.
Often times littles who have CVI are diagnosed with Autism first and later if blessed to get to someone who understands this little known condition may have both diagnosis.
But thinking to myself. Just remember, I am just a Mom, not a medical professional, or psychologist. But if a baby has trouble seeing their environment, the faces of their caregivers and more. Wouldn’t their motor, their interactions and ability to be social be affected? So they would have delays in those areas, leading to an autism diagnosis?
So my theory is that the more the eyes and the visual processing systems are affected the more we may SEE the delays.
When talking with some of the Vision Experts, if for a child with full FAS we know the EYES are AFFECTED (they can see the shortened eye slits etc. it got them diagnosed. Shouldn’t we be looking DIGGING DEEPER into how the eyes are FUNCTIONALLY AFFECTED?
We found Mac’s Opthalmological and Visual Processing challenges. And it opened the door to helping us help him and understand his challenges.
Every person is unique and those with an FASD are affected differently. The purpose of this blog series is to raise important questions so that each family can “Dig Deeper” for their individual child. FASD is complex and we talk about the hidden brain damage, but ignore and piecemeal the “Hidden Challenges of FASD.” We must embrace the whole child or adult.
So, today we begin with FASD and Genetics.
Recent studies have shown that the beginning of pregnancy appears to be particularly vulnerable to the effects of environmental factors. When these processes are disrupted there can be long-term effects on development. Early PAE (Prenatal Alcohol Exposure) is capable of changing the DNA methylation level and causing chromosome, genetic and epigenetic changes. Researchers are working on learning more.
Alcohol is a teratogen that rearranges chromosomes and kills cells.
“The toxic effect of alcohol is partly caused by its oxidation product acetaldehyde, which is highly reactive toward DNA, consequently damaging chromosomes and mutating stem cells. Owing to this, it is not surprising that in recent studies 9% to 14% of children diagnosed with FASD had chromosomal deletions or duplications that could explain at least part of the features.”
In addition, twin studies have shown the role of a genetic component in the etiology of alcohol-induced developmental disorders. Even identical twins can have different changes due to their prenatal alcohol exposure(s).
For some of our kids and adults with FASD, it may be more complex. It may not be as simple as just FASD.
We all have genetics we have inherited from our parents. For some that history may be unknown. The parents may have had undiagnosed FASD or other genetic/chromosomal disorders that the child inherited.
Recent advances have shown that prenatal trauma and multiple factors can affect the fetus. Also, there is new growing research into parental effects of trauma and life experiences that can have epigenetic changes.
FASD can be complicated by other underlying genetic abnormalities. Example: The Mom or Dad has an underlying genetic syndrome or chromosomal abnormality that was causing a neurodevelopmental disorder or some other syndrome.
Why would that matter?
We are then able to look at the whole child and know what else may be happening besides FASD symptomatology. I have known several families who knew their child had FASD and something else. Also, I know of other cases where the child was first diagnosed with a syndrome and then prenatal alcohol exposure. For example, a child can have Down syndrome and FASD.
For Mac, his mother had Tourettes and intellectual disability which affected her ability to parent and caused him to be involved in the child welfare system. With digging deeper and doing Chromosomal and genetic testing we found out he had a 16p11.2 duplication (a classic autism known cause) and another rare genetic syndrome, Gabriele DeVries Syndrome, also associated with intellectual disability and autistic tendencies. Gabriele DeVries Syndrome, also causes a progressive childhood onset dystonia. He is one of 23 in the world and the first to proactively get a life changing surgery. If we had simply thought it was FASD we would have missed very pertinent medical information. So, we all say, Mac has FASD++! The professionals say he is complicated! Tune later this week for more and “Lessons from Mackie and Genetics.”
FASD and Diagnosis—It is important to get a full assessment for FASD from a qualified team of professionals.
This section guides pediatricians and nonphysician clinicians through the process of assessing and screening for a potential FASD.
At the assessment appointment, a full medical screening and thorough neurodevelopmental assessment will be conducted. Testing may be conducted to rule out genetic disorders with similar symptoms and behaviors.
Please remember to make sure they ask about medical pieces that are part of FASD!
Question: Knowing all this, should we be asking for not only FASD evaluation, but a chromosomal micro array and genetic testing for the person we love?
We all have complicated genetic histories from multiple generations of time. Even siblings have different genetic make-ups from one another. When you have children/adults with prenatal ethanol exposures, they can have hidden challenges that may not appear on the surface.
With the advancement of understanding of genetics we are learning more and how prenatal alcohol affects fetal development.
Join the current studies – data is what will begin to connect the missing dots in FASD
Just recently The Indiana University School of Medicine closed the, DiG FASD Study. It stands for “Dissecting the Genetic Contributions to Fetal Alcohol Spectrum Disorders.” They are studying the link between genetics and FASD using a technique called whole exome sequencing looking into a person’s DNA. The study has closed for participants and we look forward to what they find.
Jodee has a box full of now unusable medications that did not work for her daughter – trial and error, then another trial and side effect. These are one year of “these did not work.” You see the picture above. This is the box of failed medications that were prescribed. Failure meant migraine headaches for 134 days, cyclical vomiting for 5 months, weight loss, fluid gain, high blood pressure, low blood pressure, lethargy, animation, high blood sugars, low blood sugar, fluid on the brain, pain, pain, pain, and more pain.
The professionals go by what is the ‘norm’ of the population and some with FASD they have paradoxical effects (which means that they work the opposite) some work too slow, some work too fast, some need only a little, some need 10 times the normal amount, and then they have the rarest of the adverse side effects. Worse, the side effects can have complications to the already sometimes compromised organ systems. In May 2022, Jodee was able to get Liz to the Mayo clinic where they used pharmacogenetic technology to find what medications would work and not work. Jodee wishes she had this 35 years ago for her daughter.
As part of the FASD Digging Deeper series, I will be putting up a simple 1 minute FASD and Genetics questionnaire on Survey Monkey. This is an anonymous survey with 3 questions to help gather information from the FASD community on each important topic. When we unite our lived experiences from real life, we can help others learn and dig deeper now and in the future.
Thinking challenge: A Mom drinks alcohol while pregnant with her daughter. How many generations could be affected by alcohol?
Answer: 3. Mom is pregnant and could affect her daughter and in utero. We often overlook that this daughter has all the eggs she will have in her lifetime in her ovaries.
And let us not forget the father’s alcohol use to his genetic contribution through his sperm. Thankfully, they are now digging deeper into this issue as well.
The researchers looked at the literature through a systematic search of studies reporting on the comorbidity and cause of death in individuals with FASD. They used the electronic bibliographic databases, searching for studies published up to July, 2012 including original research published in peer-reviewed journals.
They then made a listing of “all comorbid disease conditions were coded according to the International Classification of Diseases, tenth revision (ICD-10). To estimate the pooled prevalence of comorbid conditions found to co-occur in individuals with FAS.”
I went on a deep dive and bought the article and began the quest to list the ICD-10 codes in order from this research article. The writing required a magnifying glass for me to actually read some of the writing on the article. But as I was working on this project, I realized just how much knowledge we have learned over the 50 years of Prenatal Alcohol Exposure, but also how much of it was buried in the literature.
Some of us have children either through birth, foster care, adoption, kinship and more that have been caring for some very fragile littles. We learned that these littles can be very very complicated! We would find ourselves at specialists who would look at one system and then find ourselves in a world of revolving doctors and health condition overload. Some of these littles were not growing. They struggled with eating, eliminating, and even survival. Some caregivers would find subtle symptoms and would wonder, I know something is off. Sometimes the medical system would help us piece together the puzzle pieces of what we were seeing.
For some of our kids, we would know that they were prenatally exposed to alcohol. Others would not. But sometimes some parents would be taking their child to doctors for years and they may have seemed to outgrow the fragility of their early years. Many would never get a diagnosis or documentation of prenatal alcohol exposure. FASD for most is hidden. They may have a huge list of medical diagnoses and health problems. While some of our kids would have no diagnoses, we would see our kids not hitting their milestones and struggling with learning. Some of us have become aware that adults with Fetal alcohol exposures have a few or complicated medical issues that pop up in later years. Some of the adults they began to dig deeper into their own histories and stories and push for more answers to advocate for themselves and for those with FASD.
FASD is a whole body disorder.
What peaked my interest, I walked this walk and had to dig deep into the literature to try to figure out how to help my 6 children who are on the FASD spectrum and the families we help. I lost my daughter to complications of her prenatal alcohol exposure at the age of 34. My youngest son has full Fetal Alcohol Syndrome plus plus. While others of my children seem to have “just” the learning and executive function challenges.
FASD can be complicated. No one person is affected the same as another. There are hidden challenges that may be overlooked, or need to be uncovered that can help us understand how to help our loved ones with FASD. By understanding the core issues, we can prevent or prolong, accommodate, intervene and improve qualify of life. We talk about the paradigm shift in looking at what we are seeing what our loved ones are telling us. We just need to dig deeper and connect the mind with the whole body and how things can be affected.
When I meet a new professional with Mac one of the first things they say is that he is complicated. Yes, he is complicated. It is not just as simple as Fetal Alcohol exposures. It tell them he has Fetal Alcohol Syndrome +++.
Genetics, Prematurity, Prenatal exposures to alcohol but also prescribed medications, other neurotoxins, Prenatal and postnatal Trauma.
FASD It’s Complicated. And it’s not as simple as just learning and behavior for some. From the American Academy of Pediatrics, “Prenatal exposure to alcohol can damage the developing fetus and is the leading preventable cause of birth defects and intellectual and neurodevelopmental disabilities.” They talk a lot about diagnosis, learning and how to help the child. But little about the Hidden challenges of FASD and its impact on what we see and we do not see.
As the research learned over the last 50 years, prenatal alcohol affects everyone differently and the spectrum is wide.
I have been digging deeper into my now 50 years of learning about FASD. Half of those years, I had no idea what I was seeing. But those early lessons and clues would be just what I needed when I needed them the most.
I had known that I needed to start writing again and for this years Red Shoes Rock, I have committed to writing and digging deeper into FASD and its hidden challenges.
I am putting on my Red Shoes and a Red Shoes Sticker on my computer with my Red Shoes Rock Anny tumbler at my side and begin 15 weeks of learning more about the hidden challenges of FASD.
Put on your Red Shoes and let’s go on a deep dive into FASD and it’s hidden complications.
For Shay, for Liz, for Mac and for all who have been affected by prenatal alcohol exposure.
This afternoon Mackie saw the newly released The Lion King with his friend Bella. They are movie buddies. Everyone needs a friend to go with to the movies. Mackie has Autism, Fetal Alcohol Syndrome, and over 138 medical diagnoses that affect his ability to do many things other kids can do. He loves to go to the movies! And our local movie theater is patient when he sometimes scripts the dialogue or as tonight he was singing along!
Our local movie theater Grantland Movie Theater in Lancaster, Wisconsin is his absolute favorite place to go. In fact he loves movies so much that sometimes he brings his whole class and their families for a special showing that is arranged for just him and his guests. There is an advantage to living in a small town. Mackie is welcome and he is our resident movie expert and can rarely be stumped with any sort of Disney or animal trivia!
Here’s the very first attempt at helping Mackie to do a movie review! “Team Mac, Mackie’s Movie Review of Disney’s The Lion King!”
Mackie announced yesterday that he wanted to head to the “Public Library”. Dad did not get home from work in time and with all the snow we had to wait until today. A snow day after 12 inches of snow fell and Mac was ready to go by 4:00 am. But penguins and boys have to wait until its light out for our big trip to the library. Snow cannot stop a penguin and his boy from getting their books and treasures from the library. Penguins love snow and so does our boy.
Mac wobbled up the stairs and picked out is own clothes for the very first time. I may not want to go look at what shape his armoire is left in. But Mac had actually managed to put on his own shirt, granted it was backwards, but his arms were not all twisted in the sleeves as per usual I am trying to learn days. The little boy that could just keeps trying and they said he would never, ever be able to dress himself as his arms and hands seldom cooperate with his movement disorder.
He sat me down on the stool at my computer and said “Mommy we need to chat.” I listened as he told me that he wanted to get the Disney Playhouse CD again and a Veggie Tale sing along cd and that Furry wants to get Dr. Seuss “Put Me In the Zoo”. We got Mackie’s Library card out of my wallet and he said Furry needed one to get his book.
I suggested to Mac that he could check out Furry’s book. That was a no go. Furry needs his own he announces. Earlier this year he met his class at the library for the big day for the second graders to get their official library cards. He said “Furry didn’t get one and he felt left out.” I said penguins do not get library cards. Mac replied, “Furry is a citizen and the public library is for everybody. He lives in Lancaster and goes to school like everybody else.” Mac had a good argument.
Talking with a couple of friends, I was encouraged to call the library and explain. Yes living in a small community and having a Furry Booksigning and being a local author and Doctor Dad works in our community hospitals, maybe just maybe we won’t look too crazy with this suggestion? Taking a deep breath, I called in and explained. There was no hesitation, and everything was set for Mac and Furry’s request at the library.
Mac put on his own boots, which is quite a feat. He struggles to put on his jacket and I had to get it right side up. And after trying for 10 minutes to get those “darn mittens” on, he asked for help. With his little penguin backpack on his back for our adventure to the library on this snowy day.
Arriving at the library he honed in on his favorite cd-shelf and he leafed through the cd’s to find Veggie Tales and I helped find the favorite Disney Playhouse CD while he was singing in his monotone voice, the theme song from Imagination Movers while the elderly lady smiled at his antics. I reminded Mac that we are quiet in the library while Furry meeped in agreement and Mac said he forgot. Struggling to find the Doctor Seuss books, I encouraged him to head to the desk to ask for assistance. Mackie made me proud as he went up to the librarian and asked ever so politely for assistance. Not too bad for the boy who cannot talk somedays. The library did not have his book, but the kind librarian told Mac they would order it in for Furry and will call him next week when the book arrives. We searched the book aisles and Mac helped Furry pick out another to read for this week.
We stopped at the kids activity tables and I couldn’t believe that they had a make a purple penguin activity. Cut papers rectangles and glue sticks awaited the assembly of make a penguin. Of course, Mackie wasn’t sure about the fact it was a purple penguin? Penguins are not purple, don’t they know anything? He struggled with the scissors and asked for help to cut the pieces for him to assemble. Furry sat watching as fuzzy penguin fur and glue do not go together!
With Mac’s and Furry’s prized picks, off to the desk and Mac and Furry went. Mac politely asked for Furry to apply for his own library card. Furry with Mac’s help hand over wing signed with Mom’s assistance the signature line and Furry has his own official library card just like everybody else. Inclusion… Acceptance… and a wish for a friend. Mac checked out his cd’s and off to home we went to spend the afternoon listening to the theme songs from his favorites. The sisters, remarked “Are we going to have to listen to this for how long?” Until next week when the CD’s return to the library. The sisters, said good thing for noise blocking headphones!
Mac told me that he listens to his stories and Furry has eyes to read them. Mackie loves the library and he is empowered to read, listen and hear his stories. Mac struggles to see, but he finds his ways to “see” our world a glimpse at a time all the while moving his body to position it to see. 20 eye diagnoses is not going to stop him from finding a way. Mac is empowered with his buddy Furry at his side and with a little encouragement from Mom and his friend, the world is opening up for our boy with triple autism, a chromosomal duplication, a genetic disorder, 110 diagnoses and the former foster child that they said would never ever do this or that, or sometimes we wondered if he would survive. But for Mac he is unstoppable.
Today rules can be accommodated to make a little boy and his penguin pal be included.
Thank you to the Schreiner Memorial Library in Lancaster, Wisconsin for today’s miracle and the library card for an Emotional Support Penguin named Furry and for opening the door for more adventures with Furry. Today was the first of many more library adventures for Mackie and a place that welcomes him and his companion with encouragement and accommodation.
Mackie and Furry are on a mission. A big job for a little boy and his best friend penguin. They are running around the world raising awareness about FASD. Fetal Alcohol Spectrum Disorders with their friends. From June 1 to September 9; that’s 99 days every year Mackie and Furry are busy rocking their Red Shoes.
Yes, Mackie and Furry have friends all over the whole big globe. From right here in the United States of America and Canada to on the other side of the world to Austrailia, New Zealand, to South Africa and many friends in many countries in Europe like Germany, France, the United Kingdom, Italy, Poland, and Spain so far.
Mackie’s friend RJ Formanek started wearing Red Shoes to start a conversation about FASD five years ago. Mackie has been ringing the bells since he was very tiny and joined RJ and his friend Jodee Kulp and ever since have been teaching about FASD in a big way.
This cartoon “It’s Mackie’s World” is our way to share Mackie’s adventures in cartoon form in an endearing and educating way.
Mackie loves strings of all sorts. Well, fishing poles cannot be left unattended!
Mackie’s Fact for the week:
Self-stimulatory behavior, also known as stimming and self-stimulation, is the repetition of physical movements, sounds, or repetitive movement of objects common in individuals with developmental disabilities, but most prevalent in people with autistic spectrum disorders.
When you cannot have dairy, nuts, dyes, gluten and you want ice cream, Mackie found a solution! Have you ever heard of mashed potato ice cream cones? Well Mackie loved his.
Kids with Fetal alcohol syndrome and other neurodevelopmental disorders often have food intolerances and those foods we love, have consequences for them triggering struggles with attention and behavior.
Mackie has food allergies and intolerances that make life challenging to keep him on track. Gluten-free, that is not a problem at our house as most of my family has celiac disease and I have been Gluten-free now for 35 years and raised my children without gluten in the house. Dairy free is more of a challenge, then add his intolerances with soy, proteins, and he reacts strongly to food dyes. Add in his peanut allergy and the fact we limit sugar as kids/adults with FASD crave sugar from their prenatal exposures to alcohol. Sugar addiction is real.
Taking off on Mackie’s Trivia thread: Did you know that many Red and other food dyes are banned in other parts of the world? And here in the US we feed it to our children without thinking. Recently Aldee Grocery Stores and other US manufacturers, restaurants are promoting dye free food products.
Did you know that even white foods or medications can contain blue dye? Marshmallows sometimes have blue dye, the same with some ice creams? I don’t get this!
Not only are food dyes in our foods but also medications. We have found dye-free over the counter medications but the pharmaceutical manufactures have not followed suit. We have to limit his antibiotics to ones that have no dye or his therapists, teachers and sisters will pay the price, but most of all Mackie. He will become over the top irritable and lose impulse control and do things he would never do normally. Mackie says “Dye turns me into a werewolf”. Be sick or in trouble from the medication? Not a good option.
Food labeling laws are wonderful and if I am not sure, we google the manufacturer and ask. Our pharmacists has been known to call to verify before giving Mackie medications. But the medications need the same level of labeling as are required of the food companies.
Mackie is no longer eating mashed potatoes ice cream and we have found coconut and almond alternatives. So far he only has a peanut allergy and not a nut allergy. Fingers crossed!
In the meantime there is science behind the fact Mackie reacts to food dyes. Check out the science and read this article. Banned in Europe, Safe in the US. and decide for yourself.
Mackie’s cartoon character was drawn for the Red Shoes Rock campaign to raise awareness about Fetal Alcohol Spectrum Disorders.
One day I was working and Mackie noticed the cartoon Mackie and announced “Hey, that cartoon looks just like me.” Mackie meet cartoon Mackie and the idea for It’s Mackie’s World was born.
Creating an endearing cartoon that opens the hearts and minds to kids with neurodevelopmental dis-Abilities and who are medically complex.
Every Monday we will post a new It’s Mackie’s World cartoon and teaching post. Come back and check them out and giggle at our amazing boy and his sidekick Furry his Emotional Support Partner and their adventures.
It’s a New Year and we are at long last launching It’s Mackie’s World. 2018 is the year of educating the world about the extraordinary Mackie and his challenges and gifts he brings.
Visit us on Monday’s for an new Adventure with Mackie at “It’s Mackie’s World”. Enjoy the laughter and learn lessons that he has taught us.
Mackie Trivia Challenge:
Did you know that there was another cartoon that was inspired by another little boy with Fetal Alcohol Syndrome?
No peaking… do not read on before guessing. It’s the rules according to Mackie.
Hank Ketcham, the creator of Dennis the Menace, modelled the cartoon character after his own son, who had Fetal Alcohol Spectrum Disorder or FASD which premiered Dennis made his first appearance in the funny pages on March 12, 1951.
Were you stumped? We often are. Mackie is full of trivia and he loves to play stump the grownup with his incredible library of questions.
Thinking about how we can educate about Fetal Alcohol Syndrome and other disabilities we launched It’s Mackie’s World. Kids with disabilities are breaking through with the barriers on television, in advertising and it is time to follow in Hank Ketcham’s footsteps and make a new cartoon come to life.