Tuesday, November 28, 2017

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)


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.

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.)

Tuesday, November 21, 2017


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

Tuesday, November 7, 2017

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.

Saturday, August 19, 2017

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.