CureSHANK and the Phelan-McDermid Syndrome Foundation hosted an Externally-Led Patient Focused Drug Development (EL-PFDD) meeting on November 8, 2022. This EL-PFDD meeting was modelled after the work of the FDA’s Patient-Focused Drug Development initiative, a systematic way of gathering patient and caregiver perspectives on their condition and on available treatments.
There is a video, Voice of the Patient Report and collated Patient/Caregiver Comments (76 pages) now available -
https://www.cureshank.org/live-el-pfdd-meeting
The Patient/Caregiver Comments document is really tough reading. Caregivers of males and females of a range of ages and nationalities had their say, including the mother of a 49-year-old daughter who was only diagnosed at the age of 42!
As with the Rett syndrome EL-PFDD, one of the questions caregivers were asked was which 3 aspects of the disorder were most troublesome. Some answered directly while others just wanted to share the story of their child’s life. Some simply wanted to express gratitude for the initiative while others were not coping and pleading for help.
I’ve recorded some of their comments below. My list is long. I recommend you read the much longer original document to fully appreciate the scope of this disorder. Even though it will make you weep.
Absence of speech, intellectual disability and sleep issues are… having the most significant impact on our family.
Lack of sleep has a significant impact on our family life, with my husband not working for 7 years now due to his sleep deprivation alongside our daughter. She is also totally non-verbal and unable to communicate which makes understanding where she hurts, very complicated.
My son regressed. He lost all his words, he lost his fine motor skills, he could not imitate, he could not wave goodbye (and still cannot at age 6). He did not play anymore with his brother. He lost attention skills and stopped playing with toys. He became dysregulated. He found it very difficult to hold a spoon and feed himself (he still does).
Behavior and GI issues.
Sleep disturbance, repetitive sensory seeking behaviours and symptoms of mania.
Not being able to tell us if something hurts is a very serious problem… she has mental or neural development lag (she still doesn't walk or even sits)… she seems to forget the skills she learns over time...which is very sad and frustrating.
Seizures, kidney function and constant chewing.
My daughter suffers from pica…when it’s bad it is very scary. During these times, she puts everything in her mouth and doesn’t have the motor planning to get it out if it’s too small or a piece breaks off. It poses a huge choking risk.
Losing skills that he learned previously, delayed development, and low muscle tone. These are some of the symptoms that impact my son's life a lot.
The main problem with my 8-year-old daughter are severe neuropsychiatric disorders- SIB, OCD, ADHD, anger about everything, mood disorders, crying or euphoric behavior, laughter for no reason. I suffer from depression. I cannot cope with my daughter's self-harm.
A viable means to communicate wants and needs.
Treatments for the neuropsychiatric issues that work and don’t make things worse are priority for me.
Anxiety, sleeplessness, crying unpredictably and then bouts of periodic screaming is very difficult.
We need a trial looking at treatment to improve the neuroplasticity of their brains and better communication between the synapses.
Behavioral challenges have increased and aggression.
Anxiety coupled with the lack of understanding and sophistication of thought needed to logically navigate life's challenges.
I think one of the biggest is an inadequate means of communication. Our daughter is non-verbal…. I have to guess what she wants or what she needs. I have to read her moods, but I’m not always sure if I’m correct in my assumptions.
Hypotonia … sleep…. she also has socialization and communication problems, she has anxieties in closed places or outside if too many people.
One of the most issues beside the communication and intellectual impairment that we have is, that Luis puts almost everything in his mouth and much salivation. We also have problems with sleeping.
We struggle daily with her inability to communicate with us, as she is non-verbal.
Her GI issues/discomfort are the most difficult to manage day to day.
Gus has issues regulating his temperature so he overheats easy.
Self-care, communication and safety awareness are our current goals.
Low muscle tone, difficulty in fine and gross motor skills, minimum to nil speech and pointing skill, severe cognitive skills.
We feel that the priority is improved cognitive functioning, communication, GI issues. This will truly impact the quality of life with the PMS person and their family.
My biggest worry is how the hypotonia as affects all her systems from GI, lymphatic, metabolism, circulation, as well as the neuromuscular. Her inability to communicate what is "wrong" about these issues makes daily life the most difficult.
Top troublesome PMS related health concern currently is seizures.. Communication is the second most troublesome as we are constantly having to guess what he wants, what hurts, what makes him happy, where does he want to go, does a medicine give him side effects, is someone not nice to him at school or on the bus, how did he get that bruise and on and on and on.
One of my biggest worries stems from the fact that she has no fear. She has no concept of danger or boundaries with strangers.
The symptoms that have the most significant impact on my PMSer's life are GI issues (severe constipation sometimes requiring hospitalization), neuropsychiatric issues (mania, depression, weight loss, no sleep) and lack of communication coupled with high pain threshold making it extremely hard to know when/if/what is bothering him when he is distressed.
His inability to communicate, his high threshold for pain and his temperature control issues along with requiring a g tube and pump for meals.
Non-verbal communication, highly tolerance to pain, intellectual development.
Epilepsy with drop seizures, cycles of constipation, sleep disturbances including night awakenings.
Toileting!! Sensory issues get in the way of training. She cannot control the urge to touch, smell and taste her poop.
1. Potty training still in diapers at 9 y/o 2. Communication.
Autism, no language, sleep disorder.
Psychiatric, gastrointestinal, and neurological issues.
The most difficult symptoms are her inability to communicate and her tendency to put everything in her mouth at all times and her lack of safety awareness.
One of the most significant impacts is on her executive functioning and ability to understand and engage with everyday life.
My son has had intense and very severe psychiatric symptoms. As a result he is institutionalized and my other children have been impacted significantly.
Most significant problems for now are hypotonia (walks but limited saving reflexes), no danger awareness and being non-verbal.
1) intellectual disability, 2) Gut issues, and 3) Sleep issues
1) Intellectual Disability 2) Autism Spectrum Disorder 3) Hypotonia
Nonverbal, toileting, pica, toe walking and gastroparesis.
She is nonverbal which makes it hard to tell when she is in pain you don’t know where she is hurting or what meds to give. Second, she has fecophilia so she has to wear onesies and have a caregiver so she doesn’t get her hands there to eat and smear feces everywhere. She also is a safety risk- she climbs on things, falls off hurting herself and knows how to open the front door and run into the street.
Sleep Disorder. Lack of Communication. PICA My son's pica is considered life threatening.
The symptoms with the most significant impact on our life are: difficulty in learning and achieving new skills, lack of speech/ non-verbal.
Symptoms with most impact: fragmented sleep =sleep deprivation, seizures and injuries from falls from seizures. Voice volume (yelling, laughing, other loud vocalizations) = limited places one is comfortable living, nonverbal=frustration for my son and leaves everyone guessing.
Regression/Catatonia/Bi-Polar/Neuropsychiatric illness, anxiety, rage, loss of social skills, and loss of communication.
Probably the most difficult reality of her condition is lack of communication, low muscle tone and difficulty with digestive issues.
Communication -expressive/receptive impacts his life globally; Fine and gross motor skills - impacts activity of daily living and vocational opportunities; Sleep.
Improved communication and cognition would be game changing.
I have so many more, I cannot put down to three I am sorry.
(20min delay)