PWS Awareness Day #24: Life Expectancy

For various reasons, people with PWS used to die very early on in life, with a life expectancy perhaps to age 20. These days, because of advances in research, medical treatments, lifestyle and health changes, and more, life expectancy can be normal if weight is controlled. 

That said, far too many people with PWS die way too early. This can be from a PWS food forage that leads to stomach rupture, stomach rupture from an acute GI illness, uncontrolled respiratory illness, untreated/uncontrolled sleep apnea, and obesity-related causes like heart failure. There is also a higher-than-normal risk of sudden unexplained death.

Every PWS parent thinks about this. There are nights when I'm afraid to go to sleep because I'm worried Dean won't be there in the morning. I cannot imagine my life without him. Sometimes I'm really thankful for the bipap because if he stopped breathing, it would alarm. I've slept in his bed more than once just to be near him. Dean usually wakes up around 5:30 am, and although that's really, really early, it makes my heart smile to hear him up and about in his room chattering away. 

A boy with PWS who was still a child passed away recently. Here is a status update from Vanessa Child, a 24-year-old adult with PWS. I think what she wrote speaks volumes: 

I Am very Saddened to hear that an 8 year old soldier with PWS has lost his Battle This week. Awareness Month has ended on a tragic Note.
the only good thing that comes from this Is Your Not HUNGRY anymore.
No More PWS Monster. - R.I.P. Coryion Robertson 
Fly High < 3 You are Finally "FULL" < 3

PWS Awareness Day #23: PWS and Autism

One paper (Dykens et al., 2011) says that the incidence of autism spectrum disorders (ASD) in PWS is 40% in persons with the UPD type and 15-18% in persons with the deletion type. No matter the exact numbers, it is clear that having a dual diagnosis of PWS and ASD is quite common. While this is often hard for families to accept another diagnosis, still many others are relieved to tap into the many more resources that exist for ASD than for PWS. A lot of people know what autism is, while a great majority have never heard of PWS.

Even without a dual diagnosis, many characteristics of PWS resemble those of ASD. Developmental delays, difficulty with transitions, difficulty with abstract thinking, perseverative and rigid thinking, repetitive behaviors, sleep disturbances, self-injurious behaviors, wandering/eloping, ability to process the affective (emotional) states of others, strengths in visual-spatial functioning, and more. And obviously, ASD and PWS are both spectrum disorders, with a great range in functioning and number of/severity of symptoms. ABA (Applied Behavior Analysis) is a treatment that works well with kids with ASD, and it works well with many with PWS as well. The PWS community can learn a lot from and draw on resources from the autism community.

PWS Awareness Day #22 (I didn't forget! :)): Endocrine Issues and Puberty

(Aren't you glad I remembered? Haha)
People with PWS have a disrupted endocrine system, meaning that the levels of various hormones and the regulation of such are not normal. This is reflected in the need for growth hormone (as mentioned earlier), but also for sex hormones, a propensity toward diabetes (which also has to do with weight gain that is usually associated with PWS), and even things like sleep/wake cycles, hypothyroidism, etc.

Boys with PWS are often born with one or both testicles undescended (which, by the way, is a characteristic of many other genetic disorders as well) and may receive a series of hCG or testosterone injections and/or surgery.

Typical signs of puberty may begin early, so that a person with PWS might experience body odor or even pubic hair beginning at age 5. Often, however, puberty does not complete on its own and further hormonal treatments are needed. For women with PWS who do not have a menstrual cycle, the lack of estrogen in the body can lead to serious osteoporosis. Hormonal treatments can help with this as well.

Males with PWS are currently known to be infertile (I have heard anecdotal reports contradicting this), and there have been some cases of females with PWS who have become pregnant (also, I believe a female with PWS who has PWS by deletion and becomes pregnant would have a child with Angelman's syndrome, right?).

Dean is obviously on GH and he also has hypothyroidism (he takes levothyroxine for this). He had hCG injections as an infant to help with his testicles descending (those big IM injections are not fun to give :( ) and he ended up having to have surgery anyway. Sigh.

PWS Awareness Day #21: Education

Many people have asked and ask now what Dean's path will be for education. Really, it is quite varied for people with PWS. Some are in general education classes all day with no aide, some in general ed. with an aide, some in special ed. and general ed. for different classes/periods, and some in self-contained special ed. Some families also homeschool, either because they do that with their other children or because they realize the complexity involved in educating a student with PWS in a typical school setting.

Some go on to graduate high school and even a smaller few from college. Some get specific vocational training and others get a regular ed. diploma. Like I said, there is a range of outcomes.

Aside from educational paths, factors that teachers, parents, and therapists have to consider together to help *any* child with PWS be successful in school are:
-food safety and security (some require just advance notice for use of food in the classroom, others advocate for no food at all in the classroom because of the level of anxiety it produces for the student with PWS)
-sensory needs and possible sensory breaks throughout the day,
-activity/alertness level because of excessive daytime sleepiness that is common in PWS,
-accommodations for learning style (obviously this is for any student at all, but people with PWS *tend to be* visual learners)
-need for adaptive equipment (Dean has a special chair he sits in that supports him so he doesn't have to try to do work while expending so much energy just to stay in his chair. He also has a slant board to give his eyes a rest and be able to see his work at eye level)
-assistance managing transitions (logistically or emotionally)
-assistance in/therapy for speech, fine motor (OT), or gross motor (PT) skills
-teacher/other staff's knowledge of medical aspects of PWS to look for
-supervision needed for food security (so the student does not steal food) and for safety (if needed on playground equipment, etc.)
and much more.

PWS Awareness Day #20: Sensory Issues

(A lot of this is from Janice Agarwal, PWS mom, PT, and sensory integration specialist) 
Sensory integration is the ability to organize, synthesize, and process incoming sensory (all 5 senses) information received from the body and environment to produce purpose, goal-directed processes. Any child with abnormal muscle tone (like in PWS) will have difficulties with sensory integration (remember that hypotonia is a neurological issue, and if your nervous system isn't functioning properly, you're not going to be able to receive and process sensory information properly either).

Sensory dysfunction can present itself in a million ways, but you will commonly see: acute awareness of background noises, fascination with lights/fans/water/etc., spinning items and taking them apart/destroying them, coordination problems, unusually high (or low) activity level, difficulty with transitions (because of a whole new set of sensory inputs), and an unusual sensitivity to sounds and smells.

There's so, so much more about sensory integration, but I'll leave it at that as just an introduction. Occupational therapy is the most common therapy for dealing with sensory issues, but many other activities can help, too.

I originally thought that because Dean doesn't freak out when we run a vacuum cleaner or something obvious like that, that he didn't have sensory issues. I couldn't be more wrong. I can't even begin to list the ways that Dean seeks sensory input, whether it's through intentionally bumping into things, flinging himself backwards and upside-down off of furniture or slides, difficulty with fine motor skills, grinds the heck out of his sippy cups and plastic spoons... so much more. Of the kinds of sensory dysfunction (vestibular, proprioceptive, tactile, and oral motor), Dean has deficits in all areas, most notably in proprioceptive. When we put a therapeutic suit on him that squeezes his body (giving more sensory feedback), it's like he's a different kid. He can suddenly make coordinated movements that are nearly impossible without that input. This is something that affects pretty much everything Dean does.

(image courtesy of abctherapyservices.com)

PWS Awareness Day #19: Gastrointestinal Issues

Largely due to low muscle tone, people with PWS can experience a range of GI issues. Babies who are fed via G-tube have endoscopic or traditional surgery to puncture the stomach wall and place the tube. Also, acid reflux is a common issue with children and babies, sometimes reach a point of severity that surgery is needed to prevent the likelihood of stomach acid making its way back up the esophagus. 

If you're squeamish, stop reading. :) Constipation is very common in PWS, again because of low muscle tone making it more difficult to push food through the digestive tract. People with PWS can have regular bowel movements and still get stopped up because the muscles aren't strong enough to push everything through. Many times, one might not know someone with PWS is constipated until stomach distension occurs and an x-ray is taken at the emergency room to see what's going on. Delayed gastric emptying (gastroparesis), or food leaving the stomach very slowly or not at all, is also common. This can cause extreme nausea and abdominal pain, among other symptoms. Left untreated, these ailments can actually result in death, as the stomach can become acutely distended and rupture. Parents and caregivers should be aware of this possibility and diet should be managed accordingly to treat symptoms and prevent whatever GI symptoms are possible.

PWS Awareness #18: the PWS Community Kicks Ass

I know this is about facts, but this is as close to a fact as you can get with an opinion.  Yeah, we've all got our problems, and we don't always see eye-to-eye on certain treatments or what-have-you, but other PWS families are the best people you never wanted to know. 

A study of families with children with various developmental disorders found that PWS families experience the greatest amount of stress. We know this firsthand to be true. Trying to control your child's environment at all times (especially with food, which is *everywhere*) is beyond exhausting. But I can't tell you how many times I have thought that I can't do it anymore, and I either talk with other PWS parents or just think that they're all out there doing it, too, and I know that I can keep going. I can say those things and ask those questions that might seem taboo, and I'm met with great support.

I am consistently amazed at the determination of PWS families as they raise awareness for their loved ones, dedicate themselves tirelessly to caring for their loved one with PWS, fight insurance companies (don't even get the PWS mama bears started on this one, it gets ugly :)), staff support hotlines, head up fundraising events, plan conferences, even go to the White House to rally the cause!

Going to conferences has been life-changing. Being with other people who "get it" is so freeing and the connection is always really special. We get to learn about the latest treatments, latest research, and hear from specialists who actually *know* PWS and teach us so much.

Shout-out to the PWS families!
(photo credit for the second picture is Epic Photography by Jamie Schoenberger - a PWS mom!)