FASD: Digging Deeper is it Hidden in the Genes?

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). 

Learn more about FASD and Genetics:  Fetal Alcohol spectrum disorders: Genetic and epigenetic mechanisms.
Quote is from this article.

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.

What happens at a Screening, Assessment, and Diagnosis from the American Academy of Pediatrics 

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.

Medications and Genetics

There is the new field of Drug-Gene Testing (Pharmacogenomics). Which is the study of how your genes affect your body’s response to medications.

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.


FASD Digging Deeper Week 2 graphic

FASD: It’s Complicated

Did you know that prenatal alcohol exposures can have 428 comorbidities associated with its affects on the human body?

In 2016, the article “Comorbidity of fetal alcohol spectrum disorder: a systematic review and meta-analysis” https://www.sciencedirect.com/science/article/abs/pii/S0140673615013458

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 +++.

Overlapping issues.

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.