SYNGAP1 #UnMetNeed bucketed by Medical, Behavior/ID & Impact on Family - #S10e166

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