GLUT1 SLC2A1 Gene Mutation – Mimicking ASD
At 15 years old we finally realized that our child had a mutation on the SLC2A1 gene which resulted in a diagnosis of GLUT1 Deficiency Syndrome (GLUT1 DS). This is another allegedly rare genetic disorder that affects the brain’s ability to get enough energy from glucose, leading to a range of neurological and developmental issues. It is a de novo genetic mutation which means it wasn’t passed along from the parents, it is an “in the wild” type situation.
Psychological Challenges:
The psychological challenges associated with GLUT1 DS can vary significantly among individuals, but here are some common ones:
- Cognitive Impairments: Many individuals with GLUT1 DS experience some degree of cognitive delay or impairments. This can include difficulties with learning, problem-solving, and performing complex tasks. For us this is memory challenges and complex instructions such as tying shoelaces or following step-by-step common functions.
- Behavioral Problems: Behavioral issues are common and can include irritability, agitation, and in some cases, symptoms similar to those seen in autism spectrum disorders, such as repetitive behaviors and challenges with social interactions.
- Mood Fluctuations: Emotional regulation can be a challenge. Some individuals might experience sudden mood changes, including episodes of anger, sadness, or frustration.
- Attention Deficits: Problems with attention and concentration are common, which can affect academic performance and daily activities.
- Speech and Language Issues: Developmental delays can affect speech and language skills, leading to challenges in communication which can be frustrating and impact social interactions.
- Social Challenges: Due to cognitive and behavioral issues, individuals with GLUT1 DS may struggle with social skills, making it hard to form and maintain relationships.
- Anxiety and Depression: Anxiety and depression can also occur, possibly as a direct symptom of the disorder or as a secondary effect of dealing with chronic illness and its social and cognitive impacts.
- Motor Coordination and Movement Disorders: While primarily physical, issues like ataxia, spasticity, and dystonia can also lead to psychological stress due to limitations they place on independence and daily functioning.
HOW DO WE KNOW?:
Interestingly, as most of our journey has been, once again getting to the answer was problematic. We had the seizure activity on EEGs noted over many years so that was our first✅. There was a mutation on the SLC2A1 gene ✅(WES testing). His IQ had gone from 129 to a supposed 86 over 10 years. He had lack of speech as a child although he did attempt communication but language was elusive. As well as developmental, behavioral and mental health challenges that earned him a plethora of diagnoses but majorly a diagnosis of Autism Spectrum Disorder.
At the hospital for a spinal tap, and the children’s specialist couldn’t find a vein for sedation. So we bailed, stayed another night and the following day they tried again. This time they managed to tap his vein, got him into the room and started the procedure. That was a nightmare 48 hours. We were all – once again – traumatized by incompetence. In the room finally, for his spinal tap, they forgot to take a fasting glucose blood draw as well as forgetting to note his opening and closing pressures (fairly standard when investigating challenges in neurological situations) amongst several other lab orders that had been ordered that day to confirm this as a diagnosis. Incompetence reigns it seems and it never ceases to amaze me that my kids have managed to stay alive this long with all the mainstream interventionists screwing up the way they do regularly.
We have been highly traumatized by incompetence at this point, always making a bad situation worse. (We can leave that C-PTSD dx right here).
MANAGING GLUT1:
Managing neurological challenges typically requires a multidisciplinary approach, including medical treatment, nutritional strategies like the ketogenic diet (which can help manage symptoms by providing an alternative energy source for the brain), psychological support, and educational interventions. There are a lot of appointments and medical personnel involved.
For every 1 person who is compassionate, trained, willing to listen and learn, there are 10 who are dismissive, rude, and just doing a job. This all impacts the mental health of patients and families, when our mental health is impacted, management of a condition and healing becomes even more elusive.
Getting the diagnosis:
After getting the results from our blood work, and trying in vain to get answers, I contacted the person who is known to be THE specialist in this condition. He calculated the score incorrectly and had his person tell me this wasn’t my child’s issue. I can do the math. More so, to make sure I wasn’t wrong, I can do math easily with a computer. My son’s score was indeed lower than he calculated and did indeed confirm his GLUT1 diagnosis. This was later confirmed by his neurologist. So while it was under the required marker, I think that there is other things in play that still are unknowns and contribute to further neurological challenges.
The SLC2A1 gene encodes GLUT1, and heterozygous variants of this gene can be demonstrated in most patients. 3 , 4 Of note, CSF glucose and lactate and the CSF/blood glucose ratio can be used for diagnosis, but may be close to or within reference ranges, especially in mild cases. 3 , 4 , 5 , 7 Since erythrocytes also use GLUT1 as the major glucose transporter, techniques that quantify the amount of GLUT1 protein on the erythrocyte surface 8 or measure its transmembrane transport capacity 9 may be of additional diagnostic use. These techniques, however, face pre‐analytical challenges and do not provide information about the consequences of the defect on the brain. [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10091941/]
So that’s where we are. Stuck. Keto seems impossible. No supplements or medications work. The living situation is tough. The day-to-day is tough. We will keep going forward together because that’s just what we do. But why is this so hard?
Why do we do this to people? Why can the treatment teams not do their very best to be compassionate, kind, empathetic, knowledgable, and admit even that they don’t know but are willing to learn more? My guess is, that they are also busy, they have their own life challenges, their own tough situations, and an inability to keep everything going every day as well as a desire to invest more in their education when it may only benefit 1 or 2 additional patients. This is burnout at its finest.
So, here we sit. Trying, comparing, contrasting, helping, consoling, trying new methods, and searching for new theories. If you have one I am open. It goes without saying (but I will say it anyway) that each person’s treatment plan should be tailored to their specific symptoms and needs.
