Tuesday, March 18, 2025 - Week 12
SYNGAP1 & Unmet Need
Preface 

Let’s separate the notion of symptoms and disease description with lived caregiver and patient experience.  When you do this, charts about seizure progression and symptom list lose their sterile veneer and become horror stories.  
This is critical because clinicians have become desensitized to patients' complaints and SYNGAP1 caregivers are tired of trying to explain to people how this disease hits you.
SRD is slow moving, but suddenly changing and completely enervating.

Medical: Existing treatments/polypharmacy is woefully inadequate & worsens as patients age:  

Unrelenting intractable and worsening seizures cause side effects and require constant vigilance and partnership with Neuros
Medication changes can cause issues such at rage
Long-term side effects, e.g., bone health issues, from chronic medication use
Drug-drug interactions (DDIs) are rarely addressed despite complex prescriptions from multiple specialists (Neuro, Psych, Primary, supplements, etc.)
Some go to challenging non-pharma options: Not to mention tube feeding, keto diet, and neuro surgical options like VNS/CC as well as hip surgery for severe gait.

Behavioral & ID: Our kids have enough physical ability to make behavior very challenging:

Pain and behavior compounded by being non-verbal as they grow  
Violence against family—bites and scratches  
Violence against self, just sheer frustration
Elopement & no sense of danger as a constant stress/burden 
ABA can be helpful if the team is high caliber but often fails due to staffing, rigidity, insurance or lack of skill.

Family: Toll on caregivers & family is a heavy cost that is rarely counted:  

Almost all of our kids have severely disrupted sleep and that is a form of torture for the whole family. 
Exhaustion from the diagnostic journey, assessments, and caregiving.
Marriages fall apart under the pressure.
Nobody can care for our kids—no respite, no support, schools fail. Parents are afraid to die, fearing what will happen to their children.
Siblings are the last to be noticed but first affected.
 

Emphasize: The patients are very complex, the system isn’t working, families are in crisis, and they need real solutions.  
Parents will travel:  

We’ve had 100 patients go to CHOP from all over the USA, no cure here, just expertise.
Example: the day I wrote this presentation I saw these 4 Facebook posts: 

VHM at CHOP https://www.facebook.com/virginie.herradormcnamar/posts/pfbid02NbqkEsH84XtaoNc8qma5LsPEsC16NVGmzgq6fXRb3opP4rGJjP2WjGkMUGhbBTjpl
B at CHCO https://www.facebook.com/beata.tarasiuk.56/posts/pfbid0YJ4AxBuxtzoeqHyHHtwP5tLR8jGgRjxzxkJ 
CB at WCMC https://www.facebook.com/corey.baysden/posts/pfbid0c7RZtzm8hsB3k5mTGpmiXhaq7xzL9vLptfVn5FYZ8ZcFEuxqiYETHss7eUxpwo8Bl
RR at UCSF https://www.facebook.com/permalink.php?story_fbid=pfbid02JvfR1G33tAg9XRZVXMidstcZYcEjzrqFeutvepYoPVb1RbjTEF1QCJj4kbDdScKQl&id=100088305909698 



 
Episode 166 of #Syngap10 
#Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

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