Stomach Pain in PWS can be Life-threatening

The article written by  special teacher  Lene  Steensen, caregiver  and  personal  assistant   for a   young man with PWS at  “ Living  with Support” a special living facility in Holbæk, Denmark, is translated by Susanne Blichfeldt, MD, Denmark (who has known the young man since he was 12 years old, and has held training courses for his staff). 

The story demonstrates how a caregivers knowledge, together with written information about PWS (a medical alert booklet) can be lifesaving, and also that you have to insist, if you a not listened to.

Not all medical persons know about PWS.

Stomach pain in PWS can be caused by life threatening conditions

by Lene Steensen

 

“Live with support” is a house in Holbæk, Denmark, where a young man 38 years old  (here called J) with PWS is living. I am his personal assistant. He has his own flat in a so-called “group community”.  He has help and support daily especially concerning food and finances.

Last autumn it happened that J, during a Sunday night, experienced pain in his stomach.  J called a doctor himself (there are no staff on during the night). A doctor came, and concluded that the pain was due to a non-serious infection, gastro enteritis. When my colleague arrived on Monday morning, J was still complaining about pain, she called a doctor who referred him to the local Hospital in Holbæk. Here they said that the pain was caused by a non-serious infection, J  had blood tests that showed signs of a possible infection and he was given penicillin, and sent home. J  later said that perhaps the medication helped a bit.. When they looked at his abdomen, they did not find anything alarming, when they touched him/ area of the stomach J only complained very little.   As it was my day off, I came to work on Tuesday and was told the story.

We have participated in many courses about PWS, and here through fantastic  speakers we have been told how important it is that we react and insist, that the persons with PWS that we are responsible for have a high pain threshold, and need  very careful investigation when they have pain.

I called his GP doctor, as I did not understand why they had not made a scan of his abdomen as he has PWS. The GP had not received the papers from the hospital yet. The GP called the hospital.

Now it was lunch time and  J had not eaten his lunch.  By now, all alarm bells were ringing, so I called his GP again, who at that time had closed for lunch, then I called the hospital They (staff) would not admit J without a call from his GP 

So--- if I insisted for a referral to hospital the only possibility was to call 122 (like 911 in the USA). I finally did that, and J was able to walk himself to the ambulance!   I tried to explain that I had to call an ambulance as the man, J, had PWS, he had stomach pain and did not eat his lunch!

In the hospital they investigated/touched his abdomen and he complained a bit. They repeated the diagnoses of gastroenteritis, but I refused to take J home before a scan was performed. I had brochures and booklets about PWS with me, and showed the text every time the doctors said something. I think they finally decided for an Ultra Sound, just to “close my mouth”. 

When they had performed the scan they were in doubt about the size of the gall bladder and they decided for a CT scan. This showed air in the peritoneum, a sign of stomach or intestine perforation. They decided now for more investigations. J  had a tube through the nose to the stomach and all from there was “sucked up”, and he was not allowed to eat and drink. They said it was not an emergency situation, and he had to wait until the next day’s afternoon for a gastroscopy (where you look into the stomach with a so called binocular investigation).

Image

Here (with gastroscopy)  they saw he had a hole in his stomach wall close to where the intestine starts.  He ended up having an operation,  resulting in a very long scar with 25 clamps. They sewed up the hole in his abdominal wall. He did very well, was very brave, and finally had something to eat for the first time the following Saturday (the last time was Tuesday morning).  He was sent home on Monday, after 6 days in hospital.

It was Dr Hanne Hove, at the PWS Clinic at Centre for rare diseases at Rigshospitalet in Copenhagen,

where J goes for regular visits, who asked me to write this article, as it shows how important it is that the staff is educated and continuously updated about the special symptoms that can be seen with our clients with PWS.

It is also important that we dare to insist to the medical staff and doctors, who know more about medical conditions (than me) but perhaps sometimes they do not know all about PWS.

This story had a happy ending, but if I had accepted the diagnoses of gastroenteritis, and had not insisted, for a scan, it could have ended in another way.  A hole in the stomach can be life threatening.

Lene Steensen

Caregiver,  for J, PWS, Holbæk, Denmark

Dr Susanne Blichfeldt  comments:

This is a story about “hole in the stomach”. But not caused by overeating (binge eating). Probably there was an ulcer with perforation. The story tells how important it is that staff is well educated about PWS and possible diseases and symptoms

 This article was published recently in the Danish PWS –newsletter: PWS-NYT.

In Memory of Pina Fornasier

My mother’s name was Giuseppina Balzan born on 19 March 1921. She died on 19 January, 2015.

She  married  my father, Antonio Fornasier, and they had 4 children, all boys, and I am the third one. She was a hard-working woman trying to manage such a big family with only one small income  from my father’s job as employee at a governmental office in my town. She was very good with cooking, washing, sewing and knitting, so we never had a problem being fed and clothed when growing up, although our family had to fight to survive financially each month. 

She loved music and she had a wonderful natural soprano voice that filled our house. She really did represent the famous Italian saying “Canta che ti passa” (Sing and forget about it). The more problems we had, the more she was singing and this is what she taught me first. She always defended me when my results at school were not so brilliant because I was playing in a band and singing around every week end. She always said: “Do not take the music away from Giorgio, because it is, and it will be his life!”

I remember how proud she was when I started performing the classical music and opera she loved and this is the last connection to the world she had when she was affected by Alzheimer's. Every time I visited her at the Home where she was in my town, I would start climbing the stairs to her room, singing her favourite romance and she would jump on the bed and open her arms waiting for me, as if she was on a stage. This is the image I have of her and I wish to thank her from the bottom of my heart for what she taught me about loving all people around me, especially those who are suffering. 

My son Daniele, with PWS, had a special place in her heart and he wanted to be with me by her side when she died. 

She was 93 years old, and had spent the last 20 years of her life living with Alzheimer's. 

She kept saying to me: “Loving each other does not cost anything!”

                                Ti amo, Mama,

                                Tuo figlio, Giorgio.

The Track Less Travelled

THE JOURNEY TO ADULTHOOD….

contributed by Anne Sakaris, Tasmania, Australia

As a child growing up in Tasmania I developed a love for the bush and had the opportunity to walk many of the wonderful tracks in our National Parks.  One of the things you need to be aware of and keep watch for, particularly on the less defined and trafficked tracks, are the poles or markers that have been placed on the trees in a way that will still be visible even with heavy snow falls.  They become familiar companions and at times are a comforting sight when the clarity of the track has deteriorated.  Causes could be wet or snowy weather, lack of definition because the territory is completely rock scree or boulders – or maybe it is simply “a path less travelled”.

As I reflect on my journey as a mother of 3 precious sons, the eldest (now 27) having Prader-Willi syndrome – perhaps it is not so unlike some of the walks I have taken over the years.

The PWS aspect of the journey is definitely a track less travelled.  It is great that there are so many more “markers” appearing on the track for mothers and fathers of the generations growing up today!  I am aware that the stage of the track where the transition is being made through to adulthood can at times become harder to make out - being a Mum who has been on the track for a while, and who tends to see things in ‘pictures’, allow me to share a few bush-walking analogies that I hope will be of encouragement in your journey:

The path that bridges childhood and adulthood can sometimes seem incredibly steep and the steps can require considerable thought and strategy before being taken.  Begin preparing for this part of the journey well before you have to.  Look well at the ‘map’ to see what the options are to safely make the summit/goal.  Be aware that for our children this is also uncharted territory, what they have known and managed in the past (on the plateaus that may have come before this climb) will be challenged by circumstances outside them but also by the strength of desire from within them to express themselves as adults in their own right.  Be prepared for turned ankles or grazed knees from misjudged steps.  Rest when you need to, when you are tired it’s so much easier to take a tumble.  Be patient with yourself, your young person and all of your family members – you are all on this climb and each one will need TLC in the way that fits best - we are all different.  Tag team with another trusted adult for the lead position – my husband and I often found we did this.  Sit down on the rocks sometimes, look back at the view and remind yourself of how far you have already climbed – encourage yourself that you are making progress!

Sometimes it can seem like the pathway has been filled up with tears – making it difficult to know where to step next.  As a mother (and I know this rings true for fathers as well) I have been aware that as the years and the stages have passed there has also been a sense of different layers of grief surfacing as well.  The recognition and working through of some of the areas of loss as a young adult are significant for our young people and also for us as parents.  We observe it in them and also have to struggle with the fact that in a sense we are causing some of their grief for the sake of the hope for a long and fulfilling life – a weighty and complex responsibility.  Give yourself permission to process these times – yes you are normal and tears serve a healthy purpose.  I read recently that emotional tears help clear stress hormones from our bodies and also help produce endorphins – the feel good hormones.   Couple this with laughter - also great at producing endorphins!  A good sense of humor and ability to laugh is a great blessing for the journey.  Our special kids generally are known for their great and sometimes quite unique sense of humor – be familiar with what makes them laugh and make the most of the opportunities for a good laughter workout.  I love to see our son really laughing – it usually involves his whole body!

For many of us the school journey has been a fairly contained environment and a regular routine that our children have been happy enough to adhere to.  Breaking out of that routine and adapting to the new brings many challenges and I don’t think we can underestimate the emotional energy it takes for our young people to navigate their way through.  A Disability Services employee who was getting to know our son several years ago observed that when he entered a room or a ‘new space’ it seemed that he was literally taking in and processing everything and everyone that was in that room or situation.  Where most of us will focus on what we consider the priority of the moment, for our children it can be that they are working overtime on the inside dealing with it all.  

 Perhaps a little like this picture – there was a path through this scrub, but if you are focusing on all the bushes the path is not easily made out.  We need to be patient and listen well.  Sometimes for us as parents it is hard enough to make it out.  Connect with people who have travelled the journey ahead of you – if you can do that in your own region that obviously helps enormously.  Others can share their experience and hopefully provide some shortcuts to help in your search for direction - be it for further education, employment or day options or for forms of respite or accommodation possibilities.  Be prepared to tell your child’s story with those that may become involved in this phase of the journey.  Our children are unique individuals who happen to have PWS, which brings with it an aspect of the story that must be told well for the sake of our young people.  We need to be strong advocates for our young people but this can also be a journey for us in discovering how that looks as they move into adulthood.  If our children welcome it that’s great, but if not then it is time to be creative.  We are blessed with many good resources today to help in educating others and if the opportunity is there for training to be given for staff of support organisations or workplaces we should take advantage of it.  Consistency of support in every situation is vital.

For our family we are now in a position where we are thankful to have reached a place of much greater peace – could this be the ‘summit’?  The view is so much better from here.  Mmm, the surface is not very smooth, lots of rocks, but we can move with much more ease.  We understand these rocks and the way to negotiate them.  There were moments during the climb where I wondered if I was going to make it – my mother heart was stretched, for all in the family!  But I did make it – we all made it!  So wherever you are up to in the journey with your family, hang in there!  Every day is a new day – and there should be some incredible views along your way.

Maria José

(Contributed by Dr Moris Angulo, USA, whose help, support, and compassion for families where there is a child with PWS, has not gone unnoticed.  Dr Angulo is a member of the Clinical Advisory Board of PWSA USA, a member of the Clinical & Scientific Advisory Board of IPWSO, was made '2001 Distinguished Doctor of El Salvador' by the Legislative Assembly and is recognised as a leading practitioner for patients with Prader-Willi syndrome.)

In June 11th 2000, Maria José, a beautiful infant was born to Josefina and Beto, a young Mexican couple from Pachuca, Mexico.

Maria José was born with most symptoms and signs of Prader-Willi syndrome (PWS) and enrolled in an early intervention program; her diagnosis however, was confirmed by lab testing until age 2 years. She never vomited but had several episodes (#5) of abdominal distention. Her mother learned how to measure Maria José abdomen’s circumference, thus she knew when to alarm and seek medical attention to the pediatric emergency room at the nearest hospital. Each time she had these abdominal distention, she received medical management with nasogastric tube to decompress her abdomen and occasionally she needed hospital admission.

During her 5th episode, she complained of mild abdominal pain without any vomiting or fever. Her mother noticed she was getting progressively worse and took her to the emergency room without any response to common procedures. Five hours after onset of clinical symptoms, she underwent surgical intervention for questionable gastro-intestinal perforation. Her surgery was successful according to Maria José’s mother, unfortunately 2 hours later, she developed severe peritonitis that did not respond to broad-spectrum antibiotics and took her place in heaven at age 9 years 2 months.

Maria José was their only child and, her parents aware of lack of knowledge of PWS in the community, organized with their own effort and personal expenses the first “PWS Conference” for families, nutritionists, physical therapists, pediatricians and other health care professionals on March 2005, before their daughter’s fifth birthday.  Maria José was the only child known to have this genetic condition in her town of Pachuca. 

Along with other speakers, I had the opportunity to participate in this interesting small meeting in which the audience included more health caregivers than families. Children of 6 participating families had clinical, but not confirmed diagnosis, of PWS and they were from different towns or states in Mexico.  From March 2005 till present time, Josefina and Beto have organized 4 events with increasing number of health care professionals and families.  Last conference was held in Pachuca, October 9-11, 2014. This meeting was a real success not only with larger audience that included 130 health care professionals and 88 families but participation of local government authorities. For the first time Maria José’s parents received a partial aid from local governmental office to house PWS families from out-of-state state.  My meeting this time was not only with parents and other professionals but two members of the government who kindly listening to parents’ concerns and agree to apply at higher government level to help to “Increase the awareness of PWS at national level”.

Josefina and Beto believe indeed that their little angel is watching them from heaven and by helping other families with PWS, she will be even happier!

 Moris Angulo, MD   

                       

What's going on in Peru?

At another PWS workshop in Peru, supported by IPWSO, some of their learnings are as follows:

Mariona, on top of Machu Piccu! 

We can do it!

From the first workshop about integrated management of PWS in Peru, hosted in Lima, November 7-8th, 2014, we can extract some key points:

- Early diagnois: as Fanny Cortés (from Chile) said, early diagnosis of PWS is the base necessary to allow all management and education necessary to improve the quality of live of people with PWS and their families. Of course, PWS must not be confused with other illnesses with similar symptoms.

- Water: keeping in mind the risks of water intoxication. Water was the second most repeated keyword of the meeting (after "Síndrome de Prader-Willi"): simply avoiding flavoured drinks, infusions and juices, limiting milk intake, and replacing most of liquid intake by water, we can improve body hydration and reduce calories intake. Of course, a standard healthy diet (reducing amounts) must follow too. Let's all repeat Myriam Royo's (from Spain) song: AGUA, AGUA, AGUA! (WATER, WATER, WATER) (just up to 8 cups a day!).

- Physical activity: from Cuba, Sady Rodriguez showed us how it is possible for people with PWS to be active. Physical activity is not forbidden for them, neither doing sport, walking, playing, dancing, even Special Olympics are possible for people with PWS!

- Team: from Garraham Hospital (from Buenos Aires, Argentina), Maria Torrado shared with Peruvian professionals and families how too develop a multidisciplinary team  which works amazingly to cover most of PWS medical needs. 

- Easy: improving quality of live is not so difficult. Vivian Leske (from Argentina) stressed the importance of polysomnography to diagnose sleeping apnoea, showing that it is non-invasive test, and explaining sleep apnoea, its types, its symptoms, its consequences and how to treat it.

- Skills: Karina Abraldes, from Argentina and Garraham Hospital, too, exposed the results of their research about behavioural phenotype on different types of PWS and how to take profit of all their skills.

- Always possible: Carolina Cárdenas (from Colombia) talked about a very difficult case (because of a poor social environment) and how with a bit of attention (yes, but with a lot of work) the situation may improve amazingly.

- Secure environment: Mariona Nadal (from Spain), reminded (about) the importance of rules to establish an environment where people with PWS may feel comfortable and improve their behaviour and well-being, along with this of their families'.

- Associations: that meeting will be, by sure, the seed of the future Peruvian PWS association, with the leading of their delegates Rosalva Espino (parent) and Alberto Teruya (professional) and the support of many hopeful families. 

We hope this event will make the difference for Peruvian people with PWS (already diagnosed or not yet, already born or not yet), as past IPWSO national meetings had make the difference in other countries. 

Because "We can do it" with YOU, you can help..

Can we do this? Mexico says YES!

IPWSO has given a lot to developing countries by way of support for their first conference, meeting, or workshop, and Mexico is no exception.  We are lucky to have Spanish-speaker, Mariona Nadal, who has a brother with PWS and many volunteer workers, including Marta Fernández, volunteer in Fundación Síndrome Prader Willi in Spain, who give up their time to help others in need.  Marta has written the following:

Prader-Willi Syndrome Symposium in Pachuca, Hidalgo (9-11 October): A lifetime experience.

For the first time in my life, and thanks to many people (IPWSO, Fundación Síndrome de Prader Willi in Spain, Fundación Mariajosé in Mexico), I have had the opportunity to travel to an international Prader-Willi Symposium.

Although I have only recently finished my undergraduate studies many people decided to trust in me as a speaker and the thankful parents and professionals, who attended the conferences, assured that they actually learnt something from my speeches, I am far more positive about what I have learnt from all of them!

These days, I have had the opportunity to learn how other people deal with Prader Willi Syndrome, not only in Mexico, but also in the United States with Dr. Angulo, who was in charge of the medical management of PWS. From Mexico I met some professionals too, the nutritionist Isabela Maldonado and the geneticist Dr. Queipo, who were also deeply involved with PWS. 

From Spain, we brought into discussion quite a different range of issues, I developed some aspects of psychological management and Mariona Nadal (board member of IPWSO and member of a PW family) developed family management of PWS, which, in my opinion, are as important as medical issues. We also had some government representatives with us, and I hope that we have also experienced the beginning of a political change in Mexico regarding PWS.

Moreover, I have had the unforgettable opportunity to listen to Jorge Moreno, an adult with PWS, who explained beautifully some experiences of his own life and his family. And I also met some other PW attendants and their families. I have talked to young, brave families, willing to learn, and to experienced families, also happy to learn from experts, but with significant contributions to share.   One of these families, whom I will never thank enough for these days, is Josefina’s who, despite of the fact that their angel is not any longer with them, organised the Symposium in order to help other PW families . But this is just an example of what I have witnessed. I have witnessed how even in the most difficult situations PW families join to face difficulties, understanding and helping each other, as much as they can. How they rely on those few, who can genuinely understand and share their experience, building a worldwide support community. 

Once again I realize that we are not so rare, that we are not alone, and that we have to be fearless, because the future of PWS is not waiting for us. The present of PWS is here, and we have the responsibility to make it as happy and as meaningful as possible.

Marta Fernández-López

"Send weighing scales and height boards"

IPWSO is proud to offer support to contacts in 103 countries.  These are doctors and parents who, like IPWSO itself, work to raise awareness of PWS and to support people with PWS.  While some of the challenges they report are shared in most or all countries, there are others that are unheard of in richer countries.  Some recent requests received from doctors and parents well illustrate this point.

1.  One doctor requested that IPWSO send him weighing scales and height boards as he simply didn't have the means to obtain these himself;

2. Many doctors requested that IPWSO continue to provide its free diagnosis service whereby IPWSO will fund the cost of genetic testing of any patients suspected to have PWS who cannot access genetic testing in their own countries.

3. One doctor requested that IPWSO send him filter paper to enable him to send blood samples to IPWSO for testing. 

4. Many doctors have requested that IPWSO advocate for the provision of growth hormone to people with PWS in their countries.

5. Doctors and parents alike have requested that IPWSO provide translations of medical guidelines and IPWSO publications.

6. Perhaps saddest of all, many doctors have requested that IPWSO continue to send them information as they hope that someday they will have patients with PWS in their countries that they can identify.  In many very large countries around the world it remains the case that there are no known cases of PWS.  Maybe you can remember what it was like to raise your child not knowing what was the matter, what made him or her so different from others.  IPWSO is working to change this.

Those of us with children who have benefited from early diagnosis that has led to positive strategies to manage the challenges of the syndrome may never pause to think of mothers in countries where none of this is a possibility and who sit and weep for the child they do not understand.  We are a huge organisation around the world and there are countries where parents have found the strength to do something, to build a PWS community where they have found strength in numbers to advocate for their children.  Others have strongly advocated for (and won the right to) growth hormone treatment.  Plenty of PW Associations have gained respect at schools by teaching teachers what their child needs, and residential services have benefited from their specialised knowledge. 

For most of us, it is almost impossible to imagine life without these supports.

For other parents, this kind of support will never happen.

One of the things IPWSO has done to acknowledge that there are families desperate for support is to initiate “FamCare”, a board which is composed of parents and professionals giving their best advice answering the questions “how do I …”  “what do I do when…”  FamCare knows what you are going through and can support and offer help.

I wish we could do more.  I wish we could say “here’s the cure… here’s what will solve the problem”, but we can’t, any more than our best scientific researchers can.

But we can help!! 

IPWSO will do its best to find the scales and height measurements needed, IPWSO will continue to offer free diagnoses where none can be found, IPWSO will get the filter papers to the doctors that need them… and IPWSO will continue to put parents in contact with other parents around the world.

By keeping our PWS community alive, by sharing not only our heartaches, but our successes, our milestones, and the crazily wonderful things that happen, we offer support, strength and understanding.  Yes, we need financial support to help doctors like the ones we’ve mentioned above, but we also need everyone in the world to understand that PWS is not a life-sentence in the way it used to be, it’s just a different way of living, of understanding how the world turns, and how we can learn from it.

IPWSO, an organisation made up of parents, scientists, professionals and people with the syndrome around the world, is united in its determination to keep learning, keep researching, keep sharing, and keeping strong in every possible way, in every country that needs us – all of us.  It’s a solidarity we are lucky to have.

We will help the doctors in countries where there is no support; we will help the parents, and we will do this knowing that you support our work in the world.  If you have a question that needs answering, if you know of a family who needs support, if you have some great stories to share with us… drop us a line!

And...thank you for being part of IPWSO!