This BIRD has wings!

40 years awareness for “Rare disease” – Anna and Giuseppe Baschirotto

My visit to B.I.R.D. in September 2017

by Verena Gutmann (IPWSO Board Member - Austria)

Verena

 

Some weeks ago I visited B.I.R.D. Institute (Baschirotto Institute of rare disease) in Longare di Costozza, a sleepy little village near Vicenza.  The agreement between B.I.R.D. and IPWSO needed to be confirmed again and signed.  

The B.I.R.D. Institute makes it possible to perform the IPWSO diagnostic molecular tests which allow confirming or excluding the Prader-Willi Syndrome in countries which cannot afford the special technical equipment to provide the diagnosis on site.

This is the only life-sustaining option for many affected families to care appropriately for a person with PWS.

It is very impressive to see how much mail the institute receives from all over the world. Even test samples on simple coffee filter paper arrive when laboratory filter paper is not available.

Last time I visited B.I.R.D. was in 2002, when Giorgio Fornasier, father of the now 40 years old Daniele with PWS and the former president of IPWSO, organized the IPWSO members meeting of 25 nations at B.I.R.D. That was a truly emotional meeting!

Giuseppe and Anna Baschirotto

Today, 15 years later, I was really impressed by the Baschirottos. Their life´s work is characterized by their never ending support and their confident empathy.  Mauro, their son, died at age 16 because of the now known Apeced autoimmune syndrome. It was then that they decided to support research and therapy for rare diseases. Today, a very dedicated team of molecular biologists, human geneticist and MD´s make it possible to diagnose rare diseases like Prader-Willi Syndrome, Apeced Syndrome, Lesch Nyhan, Krabbe Disease and Metachromatic Leucodystrophy.  Outpatient medical care and rehabilitation programs are also offered on this site. In former times the property was the summer residence of Venetian aristocrats. Later on nuns used it as an orphanage, before finally the Baschirottos became the owners.

BIRD

It is of great importance that affected families can meet and share in this special environment. They can experience here that support is offered and that they are not alone in this situation. Because of the close contact with Giorgio Fornasier, the Prader-Willi Syndrome found particular attention at B.I.R.D. 

PWS rehab camps are offered here twice a year. During these camps, PWS individuals and their families benefit from medical care and also learn more about PWS management.

Beside the DNA diagnosis, PWS genetic research is conducted here. Currently test samples of four PWS patients are kept here under special conditions (temperatures of -80° Celsius) because the financial support of the Canadian Foundation of Prader-Willi Research for the project  "Insulin driven-translational capacity is impaired in fibroplasts of  Prader-Willi Syndrom" ended. A new sponsor has to be found...

 

Tests are kept at -80C

It was such an impressive experience for me to meet a couple like Anna and Giuseppe. Their charisma, their commitment and their humor are priceless, and their encouragement to keep supporting PWS families worldwide is much appreciated.

(IPWSO expresses its huge gratitude to the Baschirotto's and their team of staff who make many PWS diagnoses for families around the world.  All PWS diagnoses are subsidised by IPWSO and free where this is otherwise unavailable.)

Skin-picking

There's a proper name for skin-picking - it's known as "dermatillomania" or neurotic excoriation and it happens not just in Prader-Willi syndrome.  Many people pick at their skin, even absent-mindedly, scratching at some irritation, chewing the corner of their nails, picking the edges of a scab; it's a common thing and we've all done it.  But it's when it becomes more habitual, more obsessive, more compulsive then we should start to worry.  And, yes, there's another proper name for it when it starts to be repetitive, they call it "Body-Focused Repetitive Behaviour (BRFB) and it also includes pulling or plucking hair or nails and becomes even more serious when it starts to cause scarring which interfers with the person's social life, every-day life, and personality.

*Skin picking or scratching is a common behaviour seen in people with Prader-Willi Syndrome (PWS). The intensity and duration of this behaviour varies from person to person and episode to episode. It may occur in the form of scratching an insect bite until it bleeds and becomes an infected sore or it may manifest in the form of nose picking or anal picking. When this behaviour continues for a prolonged period it can cause unsightly and distressing open wounds. 75% of the people surveyed by FamCare reported skin picking in their relative with PWS. A USA study reported anal picking in 9.5 % of people who skin picked.

Most people use their fingers to pick at their skin. Some, however, will use tools or objects, such as tweezers, fingernail clippers, or pins. These sharp, pointed objects can quickly do significant damage to the skin, often resulting in frequent bleeding and lasting scars.

My daughter went through a time of great stress for her and she used a needle to damage her skin. She pushed the needle in so far that it required surgery to remove it. She came through the surgery like an angry cat - hissing, spitting, and wanting to escape. More than that, she wanted food and absolutely no-one was going to get in her way! The nursing staff had to call for help to manage her. It was one of her worst times.  Now, this is in the line more of self-harming, but it's the same kind of thing in that she couldn't stop herself.

Why do people with PWS skin pick? The behaviour is thought to start in response to boredom, stress and anxiety or as a form of self-stimulation. And, these too, are reasons in the general population, along with a feeling of loss or self-loathing.  There is also a more psychological reason of being able to "own" something that is yours.  These are issues that we, as parents, should be closely aware of and be able to identify what is upsetting or worrying our kids.  It is also known that people with PWS have a high pain threshold and do not feel pain so intensely. This, of course, is not necessarily the same for each person, but quite often there seems to be a higher pain threshold than you might otherwise think.

Once commenced it is difficult for the person with PWS to cease without some form of external intervention, as they become “stuck” in the behaviour. And this is an interesting point, becoming "stuck" in behaviours.

With my daughter there is a "point of no return"; she has reached a peak in an outburst from which there is no rescuing, no sensible discussion, and no point in trying.  She is totally stuck.

Think of other behaviours in PWS - eating being the major one.  If the situation is not controlled, once they start, there is no going back and, given the chance, they may eat themselves to the point of danger.  And there are the repetitive behaviours that go on and on, whether it's questioning a situation, asking when this, or that, is going to happen, and who, or what is going to happen next, it's all bound up with anxiety.  Anxiety that they will not be fed again; anxiety of what might happen will be something they can't control.  And so on.

Our Famcare article on skin-picking says this: "If the underlying cause of the skin picking can be identified, especially where stress or anxiety is thought to be a contributing factor, the ideal would be to investigate and discuss what is causing the stress for the person with PWS. If the stress can be removed or decreased, the skin picking should also reduce. Remember, however, that the picking may continue as it may have built up to a repetitive behaviour which will take longer to stop."

In my daughter's case stress from a very ignorant neighbour and her children who teased and tormented, led to a lot of self-harming  Of course, it was exacerbated by her retaliation and the only way to permanently avoid this stress was for my daughter to move house.  Extreme, yes, but it worked.

So, what works to avoid skin picking?  Assuming we have eliminated any anxiety around immediate issues and that the skin-picking seems to have turned into repetitive behaviour, there are simple and practical strategies that help to minimise the severity and frequency of skin picking. These include:

• routine cutting of finger nails on a weekly basis
•  daily use of moisturiser for fingers, hands and arms  -  it is best if the moisturiser is applied by the person with PWS, but supervised to avoid the "more is better" trap!
•  positive reinforcement for “healthy, good-looking skin”
•  keeping hands occupied –  using a “word-find” or puzzle book, computerised game use, object kneading –  eg soft ball, worry beads, hand-craft – such as knitting, crocheting, beading, unravelling knitting and re-winding
•  daily sensory stimulation of the hands and arms – eg massage
•  maintaining a PWS appropriate and calm environment 
•  brushing hair daily for a number of strokes, counted – say, up to 50, encourages the growth of “beautiful, shiny hair” when the habit of pulling hair out, is a problem.
•  tell the person how wonderful their “unpicked” skin is
•  tell the person you want to help their sore to heal
•  give  verbal praise for periods of time spent not picking
•  offer the person a reward (not food) for time spent not picking – this can be for  a few hours or lengthened to days or at the end of a week for 7 days of no picking. Drawing up a contract involving “periods of non picking” often works well. 
•  If anal picking is a problem rolling balls of toilet paper while sitting on the toilet may keep hands occupied;  try not to focus on or talk about the skin picking 
•  using distracting calming strategies and verbal re-directive strategies eg, asking the person to tell you about something that interests them
•  dress any picked sores with antiseptic cream if necessary and cover the picked area with a gauze dressing and bandage to prevent access to the area or try using a strong solution of salt and warm water to bathe picked areas 
•  maintain supervision of the person if they are only picking in secret  – but night-times are difficult
•  an Aloe Vera based cream works very well on the sores
•  in severe cases medication (only prescribed by a doctor) may be beneficial –  eg Topiramate, topical Bactroban, ReVia (naltrexone hydrochloride).  All medications must be monitored by a doctor to prevent any reactions within the person with PWS

Skin picking does not occur all the time.  Prevention is always the better option, however, techniques used to avoid skin picking need to practised regularly – as with all PWS management.

Finally, I have always found that it's better not to make a fuss about it, but include a skin-care routine into your son or daughter's daily life using praise when healing takes place and picking lessens, and not commenting when it has built up but first and foremost look for any anxiety-related issue, then progress with the healing using as many strategies as it takes.

(Linda Thornton)



* Famcare is a project of IPWSO.   Main Office: c/o B.I.R.D. Europe Foundation Onlus Via Bartolomeo Bizio, 1 – 36023 Costozza (VI) – Italy – tel/fax  +39 0444 555557 email: information@ipwso.org  www.ipwso.org

Flying Solo

It's been a while since I've put pen to paper as quite a lot has been happening these past couple of months.  One of them was the event of a significant birthday which required quite a lot of organising with half of the family coming "across the ditch" from Australia to join the celebrations.

The plan was to rent accommodation right by the beach - a large house which took 10 people plus small dog, and a second house was rented for another 5 members of the extended family.  The celebration soon took on the order of a rather large food-and-wine-festival with lots of going out to test various restaurants and local cafes, and families coming and going.  After a lot of discussion, we decided that the temptation for the one with PWS would be too great and to avoid all the issues that go along with festivities, she would join us for the last few days in a more food-manageable situation at our family bach.  To give an element of excitement to this we arranged for her to fly to the nearest city where we would pick her up.  Now, New Zealand is just a small place relatively speaking, and airports are not large and bewildering as in some countries and there are not miles and miles of Gates to find, so I thought this would be relatively simple, especially if I organised an air steward to take care of her. She was determined she could do this by herself - no problem!  "I'm over 30 now, Mum" she said, but agreed that having someone to show her where to go would be ok.

My logical process of thinking was, the flight was under an hour.  She could not escape.  She enjoys flying.  They no longer serve food.  Someone was there to keep an eye on her from Gate to Gate, so all will be well.  I was not going to worry about this.

The day dawned in the middle of a howling gale with flights delayed and hers cancelled, but they put her on an earlier flight which meant a rush to the airport.   She was last off the plane and came through the doors with an air-hostess.  Even though she said the flight was awfully bumpy and someone behind her had been sick,  she was just fine.  And I breathed a huge sigh of relief.  All was well.  Fantastic!  The plan had gone according to plan!  What a miracle!

But, as we all know, nothing really ever goes to plan, does it?

She got into the car and showed me a large paper cup full to brimming with sweets.  (On Air New Zealand it is customary, and always has been, to had out boiled sweets just before landing.)  She also had managed to score two packets of crisps and three cookies.  Hmmm.... did the flight attendants think she needed feeding up?  Or had she applied the charm and asked to take some extras "for her family"?



The other thing that happened was slightly less straightforward but food was at the centre of it all.  She has been given an opportunity to be on a committee helping to organise "Mix and Mingle" events for her residential community.  I was delighted when she told me that she had this responsibility and that she enjoyed going to meetings and talking about their next event, organising invitations and designing flyers on the computer and so on.

However, the food available at this place was your average burger and chips, pizza and chips, fish and chips.  The place also served alcohol.  Bear in mind that she was the only person with PWS and the whole idea of having to eat before going out in the evening was simply not going to work once she knew what else was available... so inevitably you're staring disaster in the face.  No matter all the cautionary words of wisdom about good choices, all the promises made, all the extra exercise that might (or might not) have taken place, the temptation is really too great to expect her to cope with.

Now combine this with the position of responsibility of being on the committee ("I can't possibly go after the food is served, I'm on the committee!) and it's bound to go pear-shaped.  As it did the other night.  She gaily ran up a bar tab ("I am allowed to do this, I'm on the committee!), and ordered pretty much one of everything.  It wasn't a great night all in all and the next day wasn't much better as remonstrations had to come, and consequences of debt had to be faced.

I realised that, for her, a "position of responsibility" became quickly translated into a "position of authority" which allowed her to think she had the right to do what she liked. Anyway, after the remonstrations came the capitulations and new strategies put in place for food, bar tabs, and authority.

So, whether stretching her independence wings by flying solo, or being on a committee, there are always - as my Grandfather would say - many a slip twixt cup and lip.  Finding the balance is the reality.

Viviendo y trabajando con el síndrome de Prader-Willi

Enviado por Jackie Waters (UK)
Translated by Mariona Nadal (Spain)

Es una de las pequeñas ironías de la vida que el síndrome de Prader-Willi (SPW) llegara a mi vida, yo era muy exigente con la comida, y con tan poco apetito yo tuve un peso muy bajo hasta después de que nacieran mis dos hijos.

Mi primer hijo fue una niña, Esther, nacida en 1978 por cesárea. Fue evidente de forma inmediata que algo no iba bien. Era muy blandita y no podía succionar. Estuve con ella en el hospital durante un mes mientras la sometían a pruebas. Síndrome de Down, parálisis cerebral, algún tipo de problema muscular, todo fue descartado, por tanto, nos dieron de alta del hospital con un diagnóstico general de "fracaso para prosperar".

Otra de las pequeñas ironías de la vida fue que, durante sus primeros meses de vida, Esther tenía muchas dificultades para comer. No lloraba y dormía mucho. Tuvimos que poner el despertador para alimentarla, usar una cucharita o apretar la tetina para intentar que unas gotas de leche entraran en su boca. Una vez empezó con los alimentos sólidos, empezó a comer bien, y yo tuve todas las esperanzas de que sus retrocesos iniciales ya eran parte del pasado. Su tono muscular mejoró gradualmente, pero seguía débil, así que no caminó hasta los 19 meses de edad - bastante pronto, lo sé, para los niños con SPW.

Era un poco raro que mi adorable hijita se comiera todo lo que le ponía delante. Raro por mis propias manías con la comida y porque la mayoría de niños pequeños no comen cosas como repollo frío - que es lo que un amigo macrobiótico con quien estábamos pasando unos días cuando Esther tenía unos 3 años nos puso para desayunar. Esther se lo comió con gusto.

Sobre los 4 años de edad, empezó ganar peso. Raro de nuevo. Yo tenía tendencia a darle raciones pequeñas que reflejaban mi poco apetito, por tanto, ¿cómo podía estar engordando?

Estuvimos viendo pediatras cada medio año, más o menos, quienes meritoriamente estaban contentos con su progreso, salvo porque su habla y lenguaje eran casi inexistente, aunque se comunicaba con signos y sonidos y estaba claro que su comprensión era relativamente buena. Cuando cumplió los 5, y el aumento de peso se fue haciendo obvio, mi mundo se puso del revés cuando una visita rutinaria al pediatra se convirtió en el día que Esther fue finalmente diagnosticada.

"Creo que sé cuál es el problema", dijo. "Creo que tiene síndrome de Prader-Willi." Me mostró algunas fotos de niños de un libro médico y sí, Esther se parecía sin duda a ellos. Dijo que mandaría una muestra de sangre para hacer un test genético de confirmación, pero incluso cuando llegó el resultado negativo, yo sabía en el fondo de mi corazón que eso era lo que ella tenía. En esa época, los tests genéticos para el SPW estaban en sus primeros años; otro test cuando tenía ya 16 años detectó una pequeña anomalía genética. El pediatra dijo que Esther era sólo el segundo niño que él había jamás diagnosticado con el síndrome y que no podía contarme demasiado sobre él, a parte de cortar de raíz el darle dulces, galletas, pasteles, ...

Esto fue, evidentemente, en los tiempos antes de internet, y cualquier tipo de información era muy difícil de encontrar. La enfermera y el pediatra clínico me dieron la dirección de la joven Asociación SPW, que se había creado apenas un par de años antes, y era gestionada durante su tiempo libre por una pareja cuyo hijo también recibió el diagnóstico. La única información que me pudieron mandar fue un librito de Estados Unidos, donde se creó la primera Asociación SPW del mundo, en 1978, el año que nació Esther. De ahí aprendí que el síndrome llevaba el nombre de los doctores suizos, el profesor Prader y el doctor Willi (junto con el doctor Labhart cuyo nombre se cayó en el algún momento) que describieron por primera vez el síndrome en 1956.

El Dr Andrea Prader con Jean Phillips-Martinsson (UK)

 La mayor parte del librito era horripilante, y encontré varias pastes en las que no podía ni mirar. Según contaban, mi angélica niñita iba a convertirse en un monstruo delirante, que se comería todo lo que se encontrara en su camino, y a la vez tendría severas rabietas de temperamento y rabia. Aún más, nunca desarrollaría madurez sexual, no tendría hijos y sería  más baja que la media. ¿Cómo podía suceder eso?

Sucede, lo sé, porque la anomalía genética del SPW afecta al área del hipotálamo en el cerebro. Que resulta controlar las hormonas que afectan al apetito, al crecimiento, al sueño y a las emociones.

Juré que haría todo lo posible para despertar a mi hija de esta pesadilla. Me uní a PWSA UK, fui a sus reuniones y conferencias, y, en 1987, tres años después del nacimiento de mi segundo hijo (sin problemas), me uní a la junta directiva.

En ese momento, poco se sabía sobre la vida de los adultos con SPW - se decía que seguían engordando y que pocas personas superaban los 30 años de edad. Sugerí hacer una encuesta entre los padres con los que estábamos en contacto que tenían hijos adultos con SPW. Un psiquiatra de Birmingham, el Dr. David Clarke, se interesó en lo que yo estaba haciendo y los resultados se publicaron finalmente en 1989[i].

Y así me convertí por defecto en la responsable de información para la PWSA UK, trabajando como voluntaria hasta 1991, y luego como empleada con sueldo, a temporadas a tiempo parcial, a temporadas a jornada completa. Mi rol actual es el de Gerente del Equipo de Apoyo. Nuestro equipo de apoyo ayuda a las familias y personas con SPW a tener el apoyo y el cuidado que necesitan, respuestas a sus preguntas sobre cualquier aspecto de la vida con SPW, y a la formación de los cuidadores profesionales. Aún soy responsable de escribir una buena parte de la literatura de la Asociación, la mayor parte de la cual está disponible en su sitio web.

Entonces, qué he aprendido en mis 39 de vivir y trabajar con el SPW?

He aprendido que el SPW es una condición increíblemente compleja que se da tan sólo en unas 2000 personas en el Reino Unido. Desafortunadamente, puede suceder en cualquier familia, pues el 95% de los casos son "de novo", es decir, sin antecedentes familiares. Afortunadamente, en muy pocos casos es hereditaria. La genética es una fuente continua de interés para los expertos en el campo, como lo es encontrar una "cura" para el apetito excesivo (hiperfagia). Ahora sabemos, gracias a las resonancias magnéticas del cerebro, que los mensajes desde el estómago al cerebro, avisando de que se ha comido suficiente, no están llegando completamente al cerebro, dando lugar a un estado de hambre casi perpetuo. El bajo tono muscular (hipotonía) que continua a lo largo de toda la vida impone un doble contratiempo en las personas con SPW: realmente necesitan menos calorías que las personas de su misma edad y altura para mantener un peso saludable: esta fue la razón por la que mi hija engordó cuando era pequeña. No fue porque yo le diera de comer demasiado, fue porque sus requisitos calóricos eran bastante más bajos que los de los otros niños.

La lucha por mantener las calorías bajas, junto con la búsqueda de comida por parte del individuo con SPW para saciar su hambre, hace que éste sea un síndrome con el que sea difícil convivir. No sólo esto, además su inmaduro desarrollo social y emocional significa que incluso aquellos que por su nivel intelectual deberían poder manejarlo (aunque la mayoría tienen dificultades en el aprendizaje, una minoría significante no las tienen) no son capaces de gestionar el estrés y las complejidades de la vida diaria, lo que lleva a menudo a rabietas que a veces conllevan agresiones físicas. Hay una amplia gama de otros retos de comportamiento, tan peculiares del SPW que los psiquiatras los describen como "fenotipo conductual".

Para la mayoría de las familias con niños pequeños que pueden manejar la dieta de su hijo, el SPW no impacta durante todo el tiempo - las rabietas pueden no ser muy frecuentes, o relativamente fáciles de manejar. Ciertamente ese fue mi caso, y Esther era, cuando era más joven, muy buena en mantener su régimen dietético, con mi apoyo. Sin embargo, a medida que las personas con SPW se hacen mayores, la independencia se convierte en un gran problema. Si se les deja por su cuenta, en la mayoría de los casos, la persona seguirá comiendo hasta que todos los problemas de salud relacionados con la obesidad hagan su aparición. Tristemente, aún oímos casos de fallecimientos de jóvenes de 20-30 años, a pesar de que la persona más mayor con el síndrome que se conoce tenía 74 años cuando falleció. Sólo un puñado, sin embargo, superan hoy en día los 60 años.

Para manejar las dificultades del síndrome, han surgido unos cuantos hogares residenciales especializados donde el acceso a la comida está muy restringido y donde el personal ha sido entrenado para manejar los desafíos que el comportamiento de algunas personas presenta. La historia de Esther es compleja, y no todo tiene que ver con el SPW, pero actualmente va muy bien en el hogar en el que ha estado viviendo desde hace ahora 2 años, habiendo perdido unos 25 kilos de peso.

El SPW ha cambiado mi vida. No estaba planificado en mi carrera (quien lo querría realmente?), pero me ha enseñado mucho. He aprendido a no juzgar a las personas que están obesas y he conocido gente de todos los ámbitos de la vida y de todo el mundo. En mi trabajo como antiguo miembro de la junta directiva de la Organización Internacional para el SPW (IPWSO) www.ipwso.org he viajado a país tan apartados geográfica y culturalmente como Noruega y Taiwán, pero en todos los países, los niños y adultos con SPW hacen frente a los mismos desafíos. Es un honor para mi haber sido invitada a ser representante de las familias y personas con SPW en el Consejo de Pacientes EASO y espero con mucho interés conocer a otros miembros del Consejo en el próximo Congreso de Portugal en mayo. 

[i] https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1291957/ – Adults with Prader-Willi Syndrome: abnormalities of sleep and behaviour.

Behaviour in PWS - where? What? Why?

by Linda Thornton

In .52 of a second, Google furnished me with a choice of 158,000 articles on behaviour in Prader-Willi syndrome.  It is overwhelming and if I were a new parent, I would not know where to start.  In fact, I probably would yell at Google, close the page and burst into tears.  There are scholarly articles, there are profiles of behaviours, advice on managing behaviours of pre-schoolers, toddlers, pre-teens, teens, adult and so on.  After 20 pages of Google and in amongst all the PWS articles,  suddenly I find a page on growing marijuana and by this stage, I’m thinking “what a good idea!”

Personally, I think that finding a PWS Association either online or in reality, is the best possible thing to do.  To be able to talk to someone face to face, or on the phone, or even just an email, will result in a calmer, easier-to-understand answer than trying to assimilate information from 158,000 different articles.  That’s just frightening.

The best possible thing you can learn about behaviour and PWS is that children and adults are all different.  They are people first, and just happen to have Prader-Willi syndrome.  Knowing your child, what motivates them, what they love and who they love, what scares them, what makes them anxious, and so on, is the first step towards understanding behaviour.  When you stop and think about it, everything we do, from getting up in the morning to going to bed at night, invokes behaviour of some kind or another.  Our behaviour sends messages to others in many different ways – no matter whether we have a disability or not.  It’s how we interact.  

I’ve watched the behaviour of my 32-year-old over the years and can read her like a book.  But I can also do this with my other children as well, the only difference is that my 32-year-old has more pages in her book.  That’s life.  Whether her behaviour is challenging, whether she’s testing whatever system that’s been put in place, or whether it's her every-day behaviour, for me the most interesting thing is how she interacts with other people.  I used to worry that she would ‘snap’ if someone said or did the wrong thing – and by this I mean a stranger, not someone she is familiar with because the more familiar she is with someone, the more likely she is to let loose! 

The other day, for example, I listened to her on the phone to her bank.  She was polite, very clear in her request to transfer funds and knew exactly what she was talking about.  She quickly and efficiently changed one automatic payment into another.  No problem at all.

I’ve heard her ring and make a doctor’s appointment; phone the library and request a particular book; she manages a visit to the Vet with her cat perfectly well and asks all the right questions and makes sure she knows the answers.  In an emergency (her concept of one) she will get herself down to the Emergency Department at the local hospital (with a staff person) and wait until she can be seen.  She knows when she is ill (see previous blog on gastroenteritis).  By being able to do these things she avoids becoming anxious, frustrated, and angry.  It has become so clear to me over the years that by first teaching her about making good choices, she is able to do so much more for herself.

Sometimes, in the middle of a catastrophic outburst I tend to forget everything I’ve just said above and feel as though I’m clinging to the life-raft for all I’m worth.  Just getting through to the other side of the meltdown is all I’m hoping for at this stage!  I hate it when these happen because I know how terrible it is both for her, and for the person she is focussed on.

I began to wonder what sort of chemical imbalance might be in place when these meltdowns got under way.  So I asked Tony Holland about this and about his research with vagus nerve stimulation.  He responded,

"Our work on vagus nerve stimulation suggested that people with PWS essentially have a a low threshold for such outbursts and also impaired emotional control - in other words people with PWS are easily triggered and once it starts such an outburst more easily builds up and leads to loss of control when compared to people without PWS. This appears to be improved by vagus nerve stimulation. The vagus nerve is part of the autonomic nervous system of the body that manages our response to threat - what we think vagus nerve stimulation is doing is normalising that response. The other rather different issue we are beginning to look at are two chemical (neurotransmitter) systems in the brain - GABA and glutamate - the former is inhibitory and the latter, excitatory. It may be that an imbalance of these two systems is important - a new study we are starting uses brain imaging to explore this hypothesis"

So, although I know that there is much behavioural research going on with Oxytocin* (Google: 1.10 seconds, 115,000 articles) and the Vagus nerve stimulation** (Google:  .72 of a second, 60,600 articles), I can’t help but think that deep down it pays to really understand your child and what makes them tick.  You may be surprised.

 (If you would like help with behaviour issues and would like to talk to our specialists about this, please email us)

*Maithé Tauber Oxytocin research

**Tony Holland Vagus Nerve Stimulation

Living and Working with Prader-Willi Syndrome

Submitted by Jackie Waters (UK)

It is one of life’s little ironies that before Prader-Willi syndrome (PWS) came into my life I was a very picky eater, and with such a small appetite that I was very underweight until after both my children had been born.

My first child was a daughter, Esther, born in 1978 by Caesarean section. It was immediately clear that something was amiss. She was very floppy and could not suck. I stayed with her in hospital for a month while they carried out tests. Down syndrome, cerebral palsy and some sort of muscle problem were all ruled out, so we were discharged from hospital with a catch-all diagnosis of “failure to thrive”.

And it was another of life’s little ironies that, for the first few months of her life, Esther was very difficult to feed. She didn’t cry and slept a good deal. We had to set the alarm to feed her, using a spoon or squeezing a bottle, to try and get even a small amount of milk into her mouth. Once she went onto more solid food, she began to pick up, and I had every hope that her initial set-backs were in the past. Her muscle tone gradually improved, but remained weak, so that she did not walk until 19 months old – quite early, I now know, for children with PWS.

What was a little strange about my adorable little daughter was that she would eat anything I put in front of her. Strange because of my own fastidiousness around food and because most little children will not eat something like cold cabbage – which a macrobiotic friend we were staying with when Esther was about three years old had presented us with for breakfast. Esther ate it with relish.

Then, around the age of four years old, she began to put on weight. Strange again. I tended to give her small portions of food which reflected my own small appetite, so why was she putting on weight?

We had been seeing paediatricians every six months or so, who were mostly happy with her progress, apart from her speech and language which was almost non-existent, though she did communicate through signs and noises and it was clear her comprehension was relatively good. When she was nearly five, and the weight gain was becoming increasingly obvious, my world was turned upside down when what was to be a routine visit to the paediatrician turned out to be the day Esther was finally diagnosed.

“I think I know what is the problem”, he announced. “I think she has Prader-Willi syndrome.” He showed me some pictures of children in a medical book and yes, Esther looked uncannily like them. He said he would send off a blood sample for a genetic test for confirmation, but even when it came back negative, I knew in my heart of hearts that this was what she had. At that time, genetic tests for PWS were in their infancy; a further test when she was 16 subsequently found the tiny genetic abnormality. The paediatrician said Esther was only the second child he had ever diagnosed with the syndrome and he could not tell me a lot about it, apart from cutting down on sweets, biscuits, cakes etc.

This of course was in the days before the internet and any type of information was very hard to come by. The nurse at the paediatric clinic gave me the address of the fledgling PWS Association, which had been set up just a couple of years previously, and was run in their spare time by a couple whose child had also received the diagnosis. The only information they were able to send me was a booklet from the USA, where the world’s first PWS Association had been set up in 1978 – the year of Esther’s birth. From that I learned that the syndrome got its name from Swiss doctors, Prof Prader and Dr Willi (along with a Dr Labhart whose name got dropped somewhere along the way) who had first described the syndrome in 1956.

Dr Andrea Prader with Jean Phillips-Martinsson (UK)

Much of the booklet was quite horrifying, and I found there were parts of it I could not look at for long. According to this, my angelic little girl was going to change into a ravening monster, who ate everything in her path, and alongside of that would have severe outbursts of temper and rage. What was more, she would never develop to maturity sexually, would not have children and would be shorter than average. How could this possibly happen?

It happens, I now know, because the genetic abnormality in PWS affects the hypothalamus area of the brain. This in turn controls a number of hormones which affect appetite, growth, sleep and emotions.

I vowed that I would do everything I could to help my daughter overcome this nightmare. I joined the PWSA UK, went to its meetings and conferences, and in 1987, three years after my son was born with no problems, joined the Trustee Board.

At that time, little was known about the life path of adults with PWS – the received wisdom was that the weight would continue to pile on and few people lived past 30. I suggested that I could carry out a survey of those parents we were in contact who had adult sons and daughters with PWS. A psychiatrist from Birmingham, Dr David Clarke, became interested in what I was doing, and the results were ultimately published[i] in 1989.

And so I became by default the Information Officer for PWSA UK, working in a voluntary capacity until 1991 and then as a paid employee, sometimes part time and sometimes full time. My current role is Support Team Manager. Our support team helps families and people with PWS get the support and care they need, answers their queries about every aspect of life with PWS, and training professional care staff. I am still responsible for writing much of the Association’s literature, most of which is on the Association’s website.

So what have I learned in my 39 years living and working with PWS?

I have learned that PWS is an incredibly complex condition which affects only around 2000 people in the UK. It can unfortunately happen in any family, as 95% of cases are “de novo” – ie newly occurring. Fortunately it is rarely hereditary. The genetics are a continuing source of interest to experts in the field, as is a finding a “cure” for the excessive appetite (hyperphagia). We now know, through MRI scans of the brain, that messages from the stomach to the brain, telling it that enough has been eaten, are not fully reaching the brain, resulting in a state of almost perpetual hunger. The low muscle tone (hypotonia) which continues throughout life imposes a “double whammy” on people with PWS: they actually need fewer calories than people of the same age and height to maintain a healthy weight –the reason my daughter began to put on weight when she was a child. Not because I was giving her too much, but because she her calorific requirements were far less than for other children.

The struggle to keep calories down, together with the individual with PWS’s search for food to assuage their hunger, makes it a very difficult syndrome to live with. Not only this, but immature social and emotional development means that even those who would otherwise intellectually be able to cope (although most have learning disabilities, a significant minority do not) are not able to manage the stresses and complexities of everyday life, often resulting in outbursts of temper which sometimes result in physical aggression. There are a range of other behavioural challenges, so distinct to PWS that psychiatrists describe them as a “behavioural phenotype”.

For most families with young children who can manage their child’s diet, PWS does not impact all of the time – the outbursts may not be that often, or relatively easy to deal with. This was certainly the case for me, and Esther was, certainly as a younger woman, very good at keeping to her dietary

regime – with support from me. However, as people with PWS grow older, independence becomes a big issue. Left to themselves, in almost all cases, the person would continue to eat until all the health problems which go alongside obesity overcome them. Sadly we still hear of people dying in their 20s and 30s, although the oldest person known to have the syndrome was 74 when she died. Only a handful, though, currently make it past 60 years old.

In order to manage the difficulties of the syndrome, a few specialist residential homes have sprung up where access to food is very restricted and where staff are trained to deal with the challenging behaviours that some people have. Esther’s story is a complex one, and not all of it is to do with PWS, but she currently is doing well in a residential home where she has lived for over two years now, having lost around 4 stones in weight.

PWS has changed my life. It was never on my career agenda (who indeed would want it to be?), but it has taught me so much. I have learned not to be judgemental of people who are obese and I have met people from all walks of life and from all over the world. In my work as a past board member of the International PWS Organisation (IPWSO) www.ipwso.org I travelled to countries as far apart in culture and space as Norway and Taiwan, but in every country, the children and adults with PWS face the same challenges. I am honoured to have been asked to be the representative for families and people with PWS in the EASO Patient Council and look forward very much to meeting other members of the Council at the upcoming Congress in Portugal in May.[i]

 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1291957/ – Adults with Prader-Willi Syndrome: abnormalities of sleep and behaviour.

Posted Jun 12 2017 by EASO Secretariat in News 

Tags: Prader-Willi Syndrome Categories: News