Rigid Spine Muscular Dystrophy

Our Daily Journey Through The Unchartered Territory of Rare Disease

2010-10-18T20:39:00.001-07:00

Rigid Spine Muscular Dystrophy

Our Current Medical Care Issues:

Since moving back to the US, we have had to make difficult decisions based on the cost-of-care, that has compromised both their short-term and long-term health. Due to the inflated health insurance premiums we were paying – premiums that provided less than 5% of their daily healthcare needs - coupled with the providers expensive deductibles, co-pays and ‘out of pocket’ fees, major stress and worry for our future has compounded the worry already felt in a home that has two children with a rare disorder. The compromises we have had to make in the last year may have saved money initially, but ultimately cost more down the road. For example: My three-year-old daughter was able to get the RSV shots last winter because of the high risk of respiratory failure the virus posed to her. Unfortunately, we had to literally turn the deliveryman away at the door upon discovering the cost was $3,300 for three shots. Her deductable was almost as high, so even with insurance and having the shots ‘approved’, we would have had to pay the full amount ourselves. My stomach churned at the thought of having to turn the shots down, as my son almost died of RSV when he was three. Several weeks later, she was admitted to intensive care with Respiratory Failure and was ventilated for two and a half weeks. The cost was almost her life, and a $100,000 hospital bill.

Our Previous Medical Care Issues:

There is no roadmap for the family or physicians with rare illnesses.

We very quickly became the doctor and nurse to our children. We have to fight for the care they need and suggest possible treatments because the doctors just don’t know what to do and what to expect.As young, new parents, our days saw us writing the book on RSMD.Figuring the disease out, alone, the hard way. Imagine the worry of seeing a beautiful baby waste away without a clue as to why; Seeing his file put in the too-hard-basket; Living in a dark cloud of fear and worry because there are no answers why and no clue what was to come.

Multiple hospitalisations, traumatic resuscitations and ventilations - our lives became something we could never have imagined. These beautiful children, with amazing talents and personalities, typical in every possible way other than their bodies refusal to work properly.

It took five years to find a diagnosis and even then, there were no research papers, doctors or specialists that could tell us that our children will most likely die before their prime, or will develop crippling scoliosis as they grow needing multiple spinal surgeries before they even hit their teens. There are no roadmaps for us or for our doctors. We have had to write it, map it out, from hard, sometimes near-death experience; through trial and error. And more recently, through meeting a family who had all four children with the same disease. I understand that this is the way of rare diseases. But it is very difficult to live through.

My Hopes For The Future

I used to wonder if my children would be able to marry, have children, lead relatively normal lives as adults. Even the doctor who knew most about this disease in the world couldn’t answer these questions for me. I know now. I know that they may not live long enough, or have the independence, or the strength. They will hope for it and wish for it though, just like we all do.

I don’t think about this anymore. Now my thoughts are consumed with how on earth we are going to pay the next hospital bill. I fret over how we are supposed to pay for their tube-feed supplies when it costs more per day to feed them than the average middle class salary earns.

I wish I didn’t have to think about this side of things, but it is the reality for us at the moment. I would like to be thinking about loving them, caring for them, keeping them as healthy and as strong as possible. I resent the amount of time trying to get them the healthcare they need had been taking me away from them. I wish for less worry in life, for continued research about this disease and the gene affected and I wish to see them grow up happy and content in their own skins.

Jasmine xox

take me out to the ball game

2010-05-22T21:45:00.001-07:00

We are so lucky! The Make A Wish Foundation gave us free tickets to the baseball tonight! Make A Wish are helping us create so many wonderful memories together – thank you :)

My mum just got here from down unda and it was soooo nice being able to veg in the afternoon sun with great friends and family, watching an exciting game (but mostly gas-bagging and occasionally trying to figure out the rules of baseball). My cheeky sis down the back there had a great time taking lots of photos of me…… well, I thought she was taking photos of me and was thus posing up a pouty storm accordingly… but, it turns out that she was really taking photos of my lovely fat roll! No wonder she was wetting herself laughing the whole time, cheeky so and so…. and I didn’t even clue on. TALK ABOUT SCARY PICTURES!! hahaa… and the My Little Pony poking its head out of my top was even more hillarious – where did that thing come from! I had no clue it was even there (I am such a mum)… Like the time I got all dolled up and left the house with an earring hooked onto the earring I was wearing – what a mum :)

It was there all night.

(You can see some of my dready twistie-twirlies here – I sell them in my etsy shop if you are interested – I am also happy to custom make them for you :)

This was the only one that didn’t have my 6-month-pregnant-(without being pregnant)-blubber in it :D :D :D

My sister is so cheeky.

The blubber shots will NEVER make it on my blog! My vanity will simply not allow it! I do not accept that I have blubber! I am thin and amazingly HOT!!

xox

PS Am adding delicious beautiful lovely pretty one-of-a-kind jewelry to my etsy shop as I type- and some beautiful archival prints too!

Here’s a peek so far:

If you would like to buy any of my creations, please come visit me at etsy!

Thanks guys! xox

Living Today

2010-05-04T15:56:00.001-07:00

Terminally Ill is a grown up word - so is Medically Challenged, Chronic, A-typical, Sick and Diseased. I don’t like any of these words. They’re all yucky. They’re all way too real. I don’t believe a politically correct term actually exists for: My Children are Sick and Struggle in Some Way Every Day. I don’t like any of them and they’re all words that I hope I don’t say around my children.

Although.

The children are at all of the doctor’s appointments and have ears that can

hear. They’re smart little cookies and at times it seems that little Isis carries the weight of the world on his little shoulders.

I never thought of my children as terminally ill – not until a special team at Primary Children’s Hospital referred to them in this way. It shocked me and actually stopped all thought in my mind and whatever sentence I was about to say to them. What were they talking about, this doctor, therapist and councillor? Asking me if I had prepared for the end, if I would keep life support on or not, that type of thing. I proceeded to float outside of my body at this point in the questioning, and to view the conversation around the boardroom table as though it were someone else’s body and someone else’s life.

They were right though, those specialists. They were trained to help and support families of the Terminally Ill – that was their mission and purpose. There was a reason they had asked to speak with me as Phoenix lay in a bed in Intensive Care. I needed to make the hard decisions now, so if and when the time ever came, I would know what to do already.

And of course I knew my children were ‘terminal’ – I had seen Isis die and get resuscitated already – so of course I knew, somewhere deep down. But…. no one had ever said it out loud before. Even though I knew a family who had lost two of their four children to the same disease, I had still never consciously thought of my children as terminal – not that I’d physically confessed to myself anyway. From a very young age in Phoenix’s life, we always secretly thought that we may lose her to the inevitable spinal surgery she was going to need, but I had never added that up to having a ‘terminal’ disease. The research papers I had pawed over in a frantic attempt to understand this rare disease, never said Terminal. But then, they didn’t say that much – that is the way of things with rare disease.

The team brought me back to my body and very matter-of-factly, but compassionately, said it like it was. So I had to think – what would I do if the children were on life support with no hope of pulling through?

Just remembering back to that time of contemplation fills me with dread and deep despair as I type. There Phoenix was, struggling in Intensive Care with a common cold and I was sitting by her side watching her struggling to recover, panicked over the hugeness of the hospital bill and mulling over Some Pretty Big Issues. Couldn't I just sit there and hold her hand? Couldn't I just focus on her? But the seed had been planted and I had to think about the realities of having terminal children. Once I had (somehow) thought it through logically and (somehow) made the tough decisions in my mind, a massive, all-encompassing weight lifted from my broken heart. Acceptance replaced the dark weight that had burdened me for so long, and a strong desire to make each day the funnest it could possibly be – to cuddle the kids as often as I could, to hear them laugh every day, to hear myself laugh every day – these desires slowly filled the space where the darkness had lived for so long.

That doesn’t mean that I don’t PMS, or get impatient when nagging children are pulling at my skirts, so to speak. No, I am just like any other unstable, hormonal mother who loses her mind from time to time – maybe even worse because of my artistic temperament. But overall, life has changed, for the better.

And I can say the word “terminal” now and not cringe. I can just say it and it feels okay – not great, but definitely okay.

Acceptance is an amazing thing.

In the past I would work on ‘accepting’ a new symptom as it arose, and then the next symptom would arise and I would go through the grieving and acceptance process all over again. It felt as though I was in a loop of constant grieving, struggling to accept this and then that. Add child number two into the mix and I honestly don’t know how I was ever not crying. But this new acceptance felt different – it was an all-encompassing acceptance – the Big Acceptance that I needed to be able to move on and be a happy individual - the acceptance of which my husband had somehow mastered years before.

My husband said to me during our separation last year that he had decided long ago to never let the children’s condition define who he was as a person. This may sound like just words to many or it may sound strange and callous, but to me it was a lightening bolt straight to the brain and to my heart: I was completely defined by the fact that I had sick children. If I was asked to write a bio about myself, it would centre on the fact that I had two children with Muscular Dystrophy because that was all I thought about and all I focussed my energies on. I was a sad martyr. I was no longer myself – that vibrant, ‘crazy’, eccentric Jasmine of younger years did not exist any more. I was an activist for my children’s health and for healthcare reform – and that was it.

That was sum of me.

And it was a highly stressful existence, it is no wonder my marriage broke down – it simply was not a good enough way to live a life. I was barely – barely –coping day-to-day as this person. And frankly, I was often not coping at all.

Acceptance really is an amazing thing – it is kind of like that feeling of finally forgiving someone - it is not an easy thing, but so amazing when it finally happens. It is all a process and I needed to be this sad-shell-of-a-Jasmine in order to reach the next stage – The Big Acceptance stage – the place where I could be happy despite life’s circumstances. The place where I could see how well the children really are doing with the bodies they have been given. They AMAZE me, these two angels given to us.

Sure, it took me 7 ½ years to reach this new place of acceptance – of being me first, a mother and wife second - and I still cry, often, but it is a little different now. I feel a little less powerless when I cry. The tears, when they come, are of grief and sorrow but with much less despair attached to them. And I know that it is up to me to make the children’s lives, as well as my own life as wonderful as they can be. No more dwelling in the negatives and what-ifs. Lots more dwelling on love and laughter and the growing of our talents.

My new motto in life has become, “Life is short, live today.” That is why Phoenix and I stopped in Hawaii on our way back to Australia at Christmas. That is why we rented a campervan and went off exploring southern Western Australia. That is why I let Phoenix run around the house without any knickers on – she loves it, so who cares! That is why I sing like an opera diva at the top of my lungs and let the neighbours dogs howl along. That is why I tickle Isis every day – there is nothing sweeter than that smile of his, and I saw it far too sparsely during The Year of Hell last year. That is why I pick up my paintbrush now instead of just wishing I had written and illustrated that children’s book I’ve wanted to create for the last twelve years. Life is too short to not go to everyopera during opera season; it’s too short to not have dinners with friends and feed the ducks old crusty bread scraps up at first dam. Life is too short to not let the kids make a mess playing with cookie dough (at least they are eating it which is our life-long goal with two peg-fed children - yes food play is messy, but so good for them!) Life is too short to not lay on the grass and let the spring sun warm the soul. It is too short to be angry; too short to not stop and literally smell the roses; too short to not get those dreadlocks I had been dreaming of for a year and too short to not say “I love you” and mean it.

Life is far too short. So I am doing some living today and I must say, it feels wonderful!!! I am so grateful to have been able to break away from some of that horrid darkness and enjoy a little more of the happy light in life. :) :)

xox

WA RESEARCH STEPS TOWARDS CURE FOR DUCHENNE MUSCULAR DYSTROPHY

2009-10-14T10:00:00.000-07:00

Thursday 27 August 2009

Acting Health Minister Troy Buswell today congratulated the Muscular Dystrophy Association of WA and Professors Steve Wilton and Sue Fletcher for their success in developing internationally significant research on the path to finding a cure for the most common and severe form of Muscular Dystrophy.

Professor Steve Wilton and his team, based at the Australian Neuromuscular Research Institute (ANRI), have developed a new treatment involving the intramuscular injection of an antisense molecule, a ‘genetic bandaid’ that restores, is safe and effective at increasing the production of dystrophin, the absence of which causes Duchenne Muscular Dystrophy (DMD).

This treatment (‘genetic bandaid’), developed in Perth through the support of the Muscular Dystrophy Association of WA (MDA WA), could benefit a significant proportion of patients with DMD, and has been acknowledged today through a study published in The Lancet Neurology. The Lancet Neurology is the leading specialist neurology journal in the world.

Research partners include the MDA WA, ANRI, University of Western Australia and the MDEX consortium, headed by Professor Francesco Muntoni in the United Kingdom. Vital support has also been received through funding provided by the Western Australian State Government’s Medical Health Research Infrastructure Fund, MDA of USA and the National Institutes of Health USA.

“I commend the vision of the Muscular Dystrophy Association of WA and its long standing support of Western Australian research”, Mr Buswell said.

“It is findings like this, discovered and developed here in Perth, that have international benefits for those diagnosed with Duchenne Muscular Dystrophy and broader neurological disorders. It is a wonderful achievement for Western Australian science.”

“As Chief Scientist of Western Australia, I congratulate Professor Steve Wilton and Professor Sue Fletcher for their pioneering work that has contributed significantly to a report published today in the prestigious journal The Lancet Neurology,” said Professor Lyn Beazley.
“It is extremely heartening to see the research moving towards a cure for DMD, as the result of a UK-based study using human subjects. As a result of the positive outcome of the proof-of-concept study, a clinical trial has been initiated using patients with DMD. The results emphasise the quality of medical research in Western Australia. The research offers the longer term potential to treat other genetic diseases and is a major achievement for Western Australian medical research.”

Professor Steve Wilton, who is also President of the Australasian Gene Therapy Society, added “There is currently no treatment available to individuals diagnosed with Duchenne Muscular Dystrophy, although promising results have been achieved with antisense oligonucleotides.”

“This is really a new form of personalised molecular by-pass surgery and the compound in these first trials will only treat about 13% of DMD cases. With support from MDA WA and MDA of USA, the NIH and the Western Australian State Government we are developing these genetic bandaids to treat DMD boys with different mutations. We are looking at applying this type of therapy to many other neuromuscular conditions for which there are no treatments.”

To support MDA WA in its vision to find a cure for Muscular Dystrophy, please phone (08) 9382 2700 or visit www.mdawa.asn.au for further information.
CONTACTS:

Renae Rutherford
Muscular Dystrophy Association of WA
tel 0438 780 313
email mda@cyllene.uwa.edu.au

Professor Steve Wilton
Australian Neuromuscular Research Institute
tel0417 982 365
email swilton@cyllene.uwa.edu.au

About Muscular Dystrophy Association of WA
The ultimate objective of the Muscular Dystrophy Association of WA (MDA WA) is to find a cure for Muscular Dystrophy and its related conditions, and to make life better for those who have it. The MDA WA fundraises for research into neuromuscular diseases and to provide support for the WA neuromuscular disease community.

The success of the MDA WA over the past 40 years is a direct result of the vision and passion of Professor Byron Kakulas. His strong interest in neuromuscular diseases, in particular muscular dystrophy, has resulted in MDA WA striving to provide those affected by muscular dystrophy and allied neuromuscular conditions with an improved quality of life to enable them to participate fully in their community without prejudice or discrimination.

MDA WA has been a pioneer in the recognition of new clinical entities, accurate diagnosis and prevention. It is estimated, based on the number of cases prevented over the past 40 years due to MDA WA initiatives and research, more than $64 million has been saved and human suffering obviated. The underlying cause of many neuromuscular disorders has been identified and findings published internationally. From the outset, patients and families have been provided with clinical and diagnostic services, support through counselling, and it has been a priority of the MDA WA for the latest scientific advances to be provided to the local community.

About the Australian Neuromuscular Research Institute

The Australian Neuromuscular Research Institute (ANRI), established in 1982 with the support of the Telethon Trust and Western Australian State Government, represents the laboratory arm of MDA WA. The primary aim of the ANRI is to maximise realistic and practical benefits to patients by integrating basic scientific research with ongoing health care and medical training in a sympathetic and supportive environment.

ANRI was the first comprehensive facility with the most modern recombinant DNA C2 C3 laboratory in Australia, comprising of 3,000 square metres of laboratories for research in neuromuscular diseases. Today the ANRI carefully integrates laboratory science, clinical research, drug trials and clinical practices to advance the health of patients with neuromuscular or neurological disorders such as Muscular Dystrophy.

Since the establishment of the ANRI, a tremendous number of scientific advances have been made. The optimism generated by the discovery that muscle could completely regenerate, a phenomenon discovered in the Rottnest Island Quokka, is now being fulfilled with research on the threshold of a curative treatment developed by ANRI scientists in the era of molecular (DNA) technology.

About the MDEX Consortium

The MDEX Consortium led by Professor Francesco Muntoni, is a multidisciplinary enterprise to promote translational research into muscular dystrophies, and is formed by the clinical groups of Professor Francesco Muntoni (UCL Institute of Child Health) and Professor Kate Bushby and Professor Volker Straub (Newcastle University), and scientists from Imperial College London (Professor Dominic Wells), UCL Institute of Child Health (Dr. Jennifer Morgan), Royal Holloway University of London (Professor George Dickson), Oxford
University (Dr. Matthew Wood) and University of Western Australia (Professor Steve Wilton).

In addition, the charities Muscular Dystrophy Campaign (MDC), Action Duchenne and Duchenne Family Support Group also participate in the Consortium.

letter to little sis

2009-10-09T19:31:00.001-07:00

(I hope you don't get eaten by sharks either Fifi!)

The Muscular Dystrophy Association of WA Helps to Save Lives

2009-09-30T17:48:00.000-07:00

Our Daily Journey Through The Unchartered Territory of Rare Disease

2009-09-29T22:22:00.000-07:00

Rigid Spine Muscular Dystrophy

Our Current Medical Care Issues:

Our Previous Medical Care Issues:

There is no roadmap for the family or physicians with rare illnesses.

We very quickly became the doctor and nurse to our children. We have to fight for the care they need and suggest possible treatments because the doctors just don’t know what to do and what to expect. As young, new parents, our days saw us writing the book on RSMD. Figuring the disease out, alone, the hard way. Imagine the worry of seeing a beautiful baby waste away without a clue as to why; Seeing his file put in the too-hard-basket; Living in a dark cloud of fear and worry because there are no answers why and no clue what was to come.

My Hopes For The Future

Jasmine xox

Muscular Dystrophy Trials Succeed

2009-09-16T21:23:00.000-07:00

An international team of researchers including West Australian molecular geneticist Steve Wilton has been recognised for its success in treating boys suffering the devastating muscle-wasting disease Duchenne's muscular dystrophy (DMD).

The groundbreaking research has been published in the international journal, Lancet Neurology.

DMD is a relentlessly progressive and incurable muscle wasting disorder, and one of the most common serious genetic disorders to affect children around the world. Each year, at least three boys born in Perth will have the disease.

Approximately one in every 3,500 boys worldwide is afflicted with Duchenne's muscular dystrophy, with one third of cases presenting with no prior family history of disease. DMD is a devastating and incurable muscle-wasting disease associated with specific errors in the gene that encodes dystrophin, a protein that plays a key structural role in muscle fibre function and stability.

Symptoms usually appear in boys before the age of six years. At this age, affected boys have difficulty in keeping up with their peers, may appear clumsy and fall easily. By age 10, boys have difficulty walking, and are confined to a wheelchair by age 12. Eventually, all muscles are affected and patients experience increased difficulty in breathing.

The muscle wasting is relentlessly progressive and death usually occurs before the age of 25. There is currently no effective treatment for DMD, but for the first time in decades, there are a range of promising therapies under development.

Professor Wilton, Head of Molecular Genetic Therapies Group at the UWA Centre for Neuromuscular and Neurological Disorders, said researchers had spent years on pre-clinical work in their quest to find a cure for muscular dystrophy.

This treatment involves the intramuscular injection of an antisense molecule to restore the production of the protein dystrophin, the absence of which causes DMD.

Professor Wilton said clinical trials in the UK, using a compound developed in Perth for the treatment of DMD, had yielded exciting results.

"It has taken time but we've had success in these human trials in the first attempt. While the trial was not designed to cure anyone, we have shown safety and demonstrated unequivocal proof-of-concept that this form of treatment can work on human DMD muscle. We feel as though we may be able to give hope to some of those families who have been affected by this terrible disease," he said.

"While it is unlikely that we can reverse the effects of the disease in advanced cases, we are much more confident that this 'exon skipping' treatment may reduce the progression of the disease, improve muscle function and quality of life. These results have been so encouraging that the second trials, to deliver the compound throughout the body and aim for therapeutic improvement, started months ago in the United Kingdom."

Earlier this year Professor Wilton and his UWA colleague Research Professor Sue Fletcher were awarded more than $1.2 million in US funding for research into the treatment of the disease.

Professor Dame Kay Davies, a world expert on DMD and Professor of Anatomy at the University of Oxford, has described Professor Wilton's research as "the most important work into a treatment for DMD in the world at the moment."

UWA has also signed an exclusive worldwide licence agreement with US-based bio-pharmaceutical company AVI BioPharma in November last year to a patent related to the treatment of DMD.

Professors Wilton and Fletcher's work on the innovative use of antisense technology to restore dystrophin expression in DMD was showcased in the 5 December 2008 edition of the prestigious international journal Science.

(Source: University of Western Australia: Lancet Neurology: September 2009)

Cure Congenital Muscular Dystrophy

2009-03-10T20:01:00.000-07:00

Cure CMD is a nonprofit 501 (c) 3 advocacy group launched in summer 2008 by 3 parents whose children have CMD. Cure CMD’s mission is to target research dollars to accelerate the fight towards finding therapies and one day a cure. Each donation to support Cure CMD’s efforts is tax deductible.

You can help support Cure CMD today by:

• Join Cure CMD on facebook as a cause. Get 10 friends to join you. We want to build a cause community of 5,000 by December.

• Place Cure CMD on your facebook page as a profile.

• Use Good Search to do internet searches. Go to www.goodsearch.com, choose Cure CMD in charity box. Each internet search gives Cure CMD a penny.

• Be a benefactor for the CMD Family conference in August, $10 donation through Cure CMD website (check or paypal).

• Go to www.curecmd.org to read our stories

Your support will allow Cure CMD to reach its 2009 goals:

1. a CMD international patient registry

2. the first Cure CMD research grant for 50K

3. partial funding for first scientific CMD conference, “Therapeutic Targets in the CMDs”, Emory, July 2009

4. funding for CMD Family and Affected Person conference, August 2009, Children’s Hospital of Philadelphia. The conference focus is on advocacy, networking and scientific discoveries to may slow disease progression. This conference presents the first opportunity for many child and adults with CMD to meet someone else with the disease.

To help us fund the CMD Family and Affected Person conference:

1. Send us 2-3 vendors that you can contact for funding in your area. A vendor how-to packet has been put together to make this easy for you. Vendors have been very responsive as they are looking for cost effective ways to expand their market in down economy.

2. Contact friends and family. Be a benefactor ($10 with mention in conference brochure) or sponsor an individual at the conference ($100).

If you have questions or would like a benefactor form and/or vendor packet, contact Trish and Lucinda at info@curecmd.com

Thank you for your support,

The Cure CMD team

Doing Well....

2009-03-09T00:20:00.000-07:00

Isis picked up my camera yesterday and here is the world through his eyes - the eyes of a seven year old... Phoenix was so excited to wake up to her beloved big brother taking a photo of her!

Phoenix is almost entirely recovered from her recent RSV and two week hospital stay. Although, her heart is working a little too hard to help her breathe which is a new concern that I wasn't expecting. We also got our hospital bill - $67,000 - I laughed. It was kindof an evil eye-twitchy laugh, but, better that than a big cry!

Intensive Care, Week Two Update

2009-02-04T14:29:00.000-08:00

Dear Family and Friends,

Getting an EKG yesterday

Just a quick update for those who have been asking after Phoenix and for family so far away in Australia...

Phoenix is entering her second week in Intensive Care at Primary Children's Hospital in Salt Lake City today.

She has RSV - Respiratory Syncytial Virus - this is a major cause of respiratory illness in young children. RSV causes infection of the lungs and breathing passages. In adults, it may only produce symptoms of a common cold, such as a stuffy or runny nose, sore throat, mild headache, cough, fever, and a general feeling of being ill (as Candice well knows, having caught it from Phoenix). But RSV infections can lead to other more serious illnesses in premature babies and kids with diseases that affect the lungs, heart, or immune system, like Phoenix and Isis. It quite literally almost killed Isis when he was Phoenix's age.

"Dummy Mummy!!"

RSV is highly contagious, and can be spread through droplets containing the virus when a person coughs or sneezes. The virus can also live on surfaces such as countertops or doorknobs, and on hands and clothing. RSV can be easily spread when a person touches an object or surface contaminated with the virus. The infection can spread rapidly through schools and child-care centers. Infants often get it when older kids carry the virus home from school and pass it to them. Almost all kids are infected with RSV at least once by the time they are 2 years old.

It is pretty difficult to shield the children perfectly from respiratory virus's, because many are so easy to catch.

With breathing support, Phoenix is more alert

Phoenix has bronchiolitis and pneumonia. She was admitted with respiratory failure. Her oxygen levels were dangerously low when I brought her here and her carbon dioxide and pH were completely out of whack. Her body was beginning to shut down - her heart was working overtime at 180+ beats per minute and she was almost completely unresponsive.

Phoenix is on full respiratory support that pushes air and oxygen into her lungs - one step down from a ventilator. A bi-pap with oxygen when she sleeps or gets tired, and high-flow prongs with oxygen and air while she is awake - the prongs are progress in the right direction and provide a little less support. has made progress in baby steps, but suffered a set back yesterday when a technician accidently bumped her breathing machine off. Within a few minutes, her oxygen levels desaturated to 51%, she turned blue and grew very lethargic very quickly. It took her all night to recover from that. She will be in here for a while yet.

I was able to talk to the Christensens doctor two days ago - the Christensens are the family who had all four of their children with RSMD. Their doctor has had 27 years experience with this family and Rigid Spine now and it was nice to chat with him. He recommended that we keep an eye on their hearts, particularly the right side that gives blood to the lungs. So Phoenix had an EKG and Echo Cardiogram yesterday.

This morning we discovered that her heart is enlarged, particularly the right side and parts of the aorta, from working so hard helping her breathe for so long. Her increased scoliosis has obviously been having more of an impact on her breathing than we realized. We have to keep a close eye on this. This news was surprising to me because none of the research we had read ever suggested heart difficulties with RSMD. Other muscular dystrophies certainly do... but anyways, it was a bit of a surprise to learn this morning. The last cardiology appointment for the children showed nothing out of the ordinary, so yes, I was surprised by these results. Mind you, Phoenix's scoliosis hadn't begun at their last cardiology appointment.

"I don't like the cough assist machine anymore. I don't like suctioning either.... just let me watch The Little Mermaid and leave me be..."

Phoenix's scoliosis began when she was one. I was sooooo sad the day I noticed it, because she was SO SO SO little and the curve was very noticable. Isis' scoliosis began at four years of age and I guess I was expecting something similar with Phoenix. Phoenix's is already so much more severe than Isis' and I see spinal surgery in the very near future for her... Which makes me very nervous. Surgery has a high mortality rate, especially for little ones with very little blood to lose and muscular dystrophy.

So yes, I get very sad and very worried, even though it looks like I am fine on the outside - I am usually not :) Phoenix has reacted very badly to both anesthetics she has had in the past and I have always quietly thought that we would lose her during spinal surgery. I never imagine she would need surgery so young.

Nick and his family are looking after Isis at home in Logan, to hopefully prevent him catching RSV. He misses Phoenix and me. I am here by Phoenix's bedside morning and night.

I am sorry my news isn't super-good. But I wanted to keep you up to date, especially my family in Australia who can't be here with us now. I miss you guys so much and I love you xoxox

It's a Matter of Soul

2009-01-31T21:18:00.000-08:00

"The issue of universal coverage is not a matter of economics. Little more than 1% of GDP assigned to health could cover it all. It's a matter of soul."

- Uwe Reinhardt

Single-Payer National Health Insurance - what is it?

2009-01-31T11:33:00.000-08:00

Single-payer national health insurance is a system in which a single public or quasi-public agency organizes health financing, but delivery of care remains largely private.

Currently, the U.S. health care system is outrageously expensive, yet inadequate. Despite spending more than twice as much as the rest of the industrialized nations ($7,129 per capita), the United States performs poorly in comparison on major health indicators such as life expectancy, infant mortality and immunization rates. Moreover, the other advanced nations provide comprehensive coverage to their entire populations, while the U.S. leaves 47 million completely uninsured and millions more inadequately covered.

The reason we spend more and get less than the rest of the world is because we have a patchwork system of for-profit payers. Private insurers necessarily waste health dollars on things that have nothing to do with care: overhead, underwriting, billing, sales and marketing departments as well as huge profits and exorbitant executive pay. Doctors and hospitals must maintain costly administrative staffs to deal with the bureaucracy. Combined, this needless administration consumes one-third (31 percent) of Americans’ health dollars.

Single-payer financing is the only way to recapture this wasted money. The potential savings on paperwork, more than $350 billion per year, are enough to provide comprehensive coverage to everyone without paying any more than we already do.

Under a single-payer system, all Americans would be covered for all medically necessary services, including: doctor, hospital, long-term care, mental health, dental, vision, prescription drug and medical supply costs. Patients would regain free choice of doctor and hospital, and doctors would regain autonomy over patient care.

Physicians would be paid fee-for-service according to a negotiated formulary or receive salary from a hospital or nonprofit HMO / group practice. Hospitals would receive a global budget for operating expenses. Health facilities and expensive equipment purchases would be managed by regional health planning boards.

A single-payer system would be financed by eliminating private insurers and recapturing their administrative waste. Modest new taxes would replace premiums and out-of-pocket payments currently paid by individuals and business. Costs would be controlled through negotiated fees, global budgeting and bulk purchasing.

http://www.pnhp.org/facts/single_payer_resources.php
Physicians For A National Health Program

Save a Fortune Now, Pay a Mega-Fortune Later...

2009-01-29T23:51:00.000-08:00

Needing help to breathe: Phoenix's body had been working so hard for 2 1/2 days, and then finally gave up. A trip to Las Vegas for a long overdue break, turned into a trip to Primary Childrens Hospital instead

------------------------------------------------

The US health care system is one bandaid fix, upon another bandaid fix, upon another. The doctors are as good as anywhere else, the staff are trained and the floors are clean - and yet as a country, the United States is ranked #37 as a health system by the World Health Organization.

This is because actually accessing care is impossible for tens of millions - even those that have health insurance, because they simply cannot afford to pay the bill.

The United States spends nearly $7000 per capita each year on health care - the highest in the world - and yet it is estimated that 18,000 people die needlessly each year, simply because they are uninsured or underinsured.

Phoenix's intensive care doctor was sickened to receive her into intensive care yesterday. She was sickened because Phoenix could have had an RSV vaccination two months ago, but because of the highly inflated cost of $3,300 for three needles, we had to literally turn the delivery man away at the door. This was a very difficult decision for us to make and it ate away at me for weeks because Isis nearly died from RSV at Phoenix's age, as many of you remember. Earlier that morning, Phoenix's doctor had admitted a young mexican boy who had become blind from an untreated tumor - this tumor was untreated for the exact reason that Phoenix didn't get her RSV shots - the cost.

What is the price tag to live? It is estimated that 18,000 people needlessly die in the US each year due to lack of insurance or inadequate insurance and yet the US spend the highest per capita on health care, in the world

--------------------------------------------

Australia spends just over $3000 per capita and every person has access to care. The current Australian system, known as Medicare, coexists with a private health system. Medicare is funded partly by a 1.5% income tax levy (with exceptions for low-income earners), but mostly out of general revenue. An additional levy of 1% is imposed on high-income earners without private health insurance. As well as Medicare, there is a separate Pharmaceutical Benefits Scheme that heavily subsidises prescription medications. Doctors still make great incomes and the public hardly notices the tax.

As my sister put it last night sitting by Phoenix's bed, "In Australia, we all take care of each other". I hope to be able to sit by my children's hospital beds in the future and be able to focus all my worry and attention upon my sick child living and recovering, rather than how on earth we are going to pay for it.

I hope for the day where we all take care of each other here too.

Are we saying that these beautiful special needs children do not deserve to live? Because that is what it feels like. To be profited from so ruthlessly is wrong to the core. They make this world a better place and are such a light to the people and community around them.

------------------------------------------------

Thank goodness for modern machinery and modern medicine, if only it was affordable...

www.change.gov is potentially great

2009-01-17T11:01:00.000-08:00

www.change.gov is potentially a great idea.

There are several good suggestions in the 'citizens notebook' for a
single-payer universal healthcare change, to bring the US more inline with every other rich democracy. I understand that not many people know what this would mean, so I would love to share with you some of
my experiences.

Having lived in a system that has medicare-for- all in Australia, I can tell you it is SO much more efficient than the current US system in preventative care, cost and actual care received. Everybody in,
nobody out. Universal means access to healthcare for everyone, period — this is the desire of 81% of all Californians, as reported in a January, 2007 Field Poll.

It is also portable. Even if you are unemployed, or lose or change your job, your health coverage goes with you. Everyone benefits - there are no Cadillac plans for the wealthy and Moped plans for everyone else, with high deductibles, limited services, caps on payments for care, and no protection in the event of a catastrophe.

With Single-payer healthcare, there is one level of comprehensive care no matter what size your wallet. You simply receive the care that you need.

Prevention is focused on a lot more. By removing financial roadblocks, a single payer system
encourages preventive care that lowers an individual's ultimate cost and pain and suffering
when problems are neglected, and societal cost in the over utilization of emergency
rooms or the spread of communicable diseases. We have had to neglect, through no choice of our own, some of our childrens healthcare needs since being here in the US. Neglection is never good because it can cause larger more expensive problems down the road. For example: We had to turn away RSV shots for my daughter two months ago. These three shots assist the body to fight RSV and they cost $3,300. RSV nearly killed our son when he was my daughters age and put him in intensive care for 2 1/2 weeks. Because we couldn't afford the inflated cost of the medication for our daughter, we may in turn suffer an even greater cost of her being hospitalised and ventilated, or worse, dying.

With Single-Payer healthcare you will have a choice of physician. Most private plans restrict what doctors, other caregivers, or hospital you can use. Many US insurance companies also restrict what services doctors can even offer their patients. Under a single payer system, patients have a choice, doctors can be doctors and the provider is assured a fair reimbursement.

It would end or limit insurance industry interference with our 'care'.
Caregivers and patients regain the autonomy to make decisions on
what's best for a patient's health, not what's dictated by the billing
department or the bean counters. No denial of coverage due to
pre-existing conditions or cancellation of policies for "unreported"
minor health problems. People just get taken care of. None of this
no sleeping at night because of medical bill nightmares and denial of
care from your expensive insurance company.

And cost? A single-payer system would dramatically reduce
administrative costs. Canada's system has a 1 percent overhead and the
U.S. Medicare system for the elderly overhead is less than 4 percent.
These compare with the greater than 20 percent overhead of our biggest
HMOs.

Overall, administrative costs in the United States, including all
paperwork and billing, are about 30 percent of our health-care budget.
Reducing it to Canadian levels would save enough money to cover our
uninsured. More than half of our health dollars are already
tax-supported (Medicare, Medicaid, government employees, military, tax
breaks to providers, etc.), and the new taxes needed would be offset
by decreased insurance premiums and out-of-pocket costs.

$350 billion dollars will be saved each year, in paperwork alone.

The American people can demand a rational cost-effective system that
provides equitable, necessary access to health care for all.
Eliminating insurance industry profit and implementing a single-payer
system can be a central part of this solution.

Taiwan, shifting from a U.S. healthcare model, adopted a single-payer
system in 1995, boosting health coverage from 57% to 97% with little
if any increase in overall healthcare spending. They looked at the
best of every rich democracy, and created their own universal
healthcare system for all. It is very impressive. Interestingly,
when looking at the US healthcare system, they learned what NOT to do.
http://www.pbs. org/wgbh/ pages/frontline/ video/share. html?s=frol02n71 cq101

Budgeting for healthcare is common sense in a Single-Payer system. I have found that the cost of much of my childrens feeding supplies here in the US is three times more expensive than
what it is in Australia, just because it can be. The public system sets fair reimbursements applied equally to all providers while assuring all comprehensive and appropriate health care is delivered, and uses its clout to negotiate volume discounts for prescription drugs and medical equipment.

Doctors still make great incomes, as they deserve to.

Single-Payer Universal Healthcare is not a communist plot. The public sets the policies and administers the
system, not high priced
CEOs meeting in secret and making decisions based on what inflates
their compensation packages or stock wealth or company profits.
(See www.nnoc.net)

Everyone is covered, regardless of income, age, employment status, or
pre-existing condition. No one loses insurance if they lose their job
or exceed their deductible. Hospitals are funded by global budgets
worked out on an annual basis. Administrative cost savings to doctors
and hospitals are enormous.

My husband and I often marvelled at how little tax we actually paid,
and in Australia he was earning a good income. If our taxes were
indeed higher than the US, we certainly didn't notice it. What we DO
notice since being here, is that we will soon be bankrupt from medical
expense - and we HAVE insurance.

Compared to our experiences trying to get our children the care that
they need here in the US during the last six months, single-payer (as in, each
doctor bills the one source) universal healthcare (as in, every
citizen and permanant resident has automatic healthcare from the
cradle to the grave) works very efficiently and costs far less to the
patients, the doctors and the government, than the current inflated and broken
system of the USA.

I would not hurt to give it a go.

Dear Mr Congressman

2009-01-14T13:53:00.000-08:00

More places are needed for the Travis C Technology Dependant Medicaid Waiver in the new budget. I need you to bring the following information to the budget meetings and ask for 30-50 more places on the waiver. (Contact Jeff Dean, Health Program Manager, 801 538 6638 jeffdean@utah.gov for Waiver specific information.)

My children qualify to have the Travis C Technology Dependant Medicaid Waiver, although they may never get it. This waiver is brilliant and is for those middle-class children who have high technology-dependant needs that insurance companies will not touch. However, there is only 120 places on this waiver for the entire state of Utah. 56 qualified children are currently on the waiting list - that is three whole classrooms full of children who desperately need this waiver. My children are around number 36 and 37 on the waiting list. We have to wait for 36 other children to die, before my children can recieve the help that they urgently need.

Only one place opened in January.

It will literally be years before my children are on the waiver. There needs to be at least 30-50 more places available on this waiver. I need you to know this, as our representative, and present this need at the upcoming budget meetings.

The United States’ health system is in crisis. Despite spending at least twice as much per capita as any other country, we have 41 million uninsured people, another 30 million underinsured, and everyone watching costs go up and our access down. Expensive high-tech care is available to some, but even basic and preventive care is often unavailable to many. Our national health indicators rank with the best of the third-world countries rather than the industrialized democracies.

Our family experiences the full extent of this broken system on a daily basis. Both of our children have a rare disease called Rigid Spine Muscular Dystrophy. Having this disease effects them in many ways and they are dependant on modern medical equipment to keep them alive. They are intelligent and creative kids - normal in every way except that their bodies to not want to cooperate properly with their minds. When they grow, they will be able to work and contribute to the world in many ways. They already contribute so much to the lives of community members around them.

The only way that my children can get the daily healthcare that they need is through medicaid. We are currently earning a middle-class salary and HAVE insurance, we do not qualify for medicaid. Insurance DOES NOT provide what the children need - infact, insurance is extremely expensive and gives almost nothing in return. More insurance is not the answer.

We are stuck in the black hole of healthcare in the US. We, and many other families, are being forced to live below the poverty line in order to get the children medicaid - as medicaid is the only way to look after children with daily health needs. This is unacceptable and makes no sense. We are contributing members of society - we make money and spend money. It makes no economic sense that the current healthcare system forces us to stop making money and stop spending money, just to get our children the assistance that they need. Without medicaid, we will be bankrupt soon enough. It costs more per day JUST to feed my children, than what my husbands middle-class salary earns. It seems that we will soon be living under the poverty line, in one way or another, through no choice of our own, as a direct result of a flawed healthcare system.

This inequitable and costly situation is increasingly unacceptable to most Americans, including physicians and health policy experts. Many healthcare reform proposals involve maintaining much of our expensive and inefficient system and throwing in more money to cover some additional people. A complete overhaul is needed, and insurance companies need to be left out of the equation.

The stress of trying to get healthcare in the US is breaking down families and breaking the economy. Until a national reconstruction happens, in the vein of HR 676, more places on the Travis C Technology Dependant Waiver are needed immediately.

Please bring this to the House and to the budget meetings immediately. Our representatives need to know what is happening out here on the front lines and changes need to be made now.

Sincerely,
Jasmine Bailey-Barfuss
Home: 435-213-3703
Cell: 801-822-7271
156 East 200 South
Logan UT 84321

It's a New Day, a New Dawn, a New Life....

2009-01-09T15:54:00.000-08:00

"The Loves of my Life"

Life is a battle-field indeed. But feeling the sunshine warm my face on a warm day in the middle of a cold winter, soothes my worried soul and brings peace to my overwhelming fears - even for just a moment.

Today was a beautiful day.

The Battle for my Children

2009-01-08T13:47:00.000-08:00

We have recently moved back here to the US from Australia and I have to tell you that Universal, single-payer healthcare, is brilliant. I have experienced the health system in Australia and the US more than most - I truly know what I am talking about and find myself laughing out loud when I read the propaganda from decades ago still being used as the reasons NOT to change to universal care for all today.

We have two beautiful children who were unlucky to be born with an extremely rare gene mutation resulting in Congenital Rigid Spine Muscular Dystrophy. Their minds are intellegent, loving and creative, but their bodies just don't want to cooperate.

What I have come to realize over the last six months (since being here with the children in the US), is that there is a huge hole in the health"care" of sick Americans - and that is sick middle-class America. I must be candid here, because what I am saying is so important, particularly to the life of my family - Insurance Companies DO NOT help sick people. Insurance companies are ideal for those with very little need ie. healthy people, because they accept the monthly payments, provide next to nothing in return and make amazingly huge profit margins.

For those with medical needs that cost on a daily basis, living below the poverty line to get medicaid is the only current option. And I must say that this upsets me greatly. I have met about a dozen people since being here who have no other choice, but to live in poverty so that their sick children can get the surgeries and supplies required to keep them alive and thriving. Others divorce in order to get medicaid. The system is so broken, that it is forcing honest people to HAVE to do whatever it is they have to do.

Our two children have several needs and Insurance has fine print to get them out of helping in almost every circumstance. With very high monthly payments, very high co-pays and extremely high deductibles, it is actually, in all reality, impossible to be middle-class in America and have one or more sick family member. For example: Our children are both fed via a gastric tube. To order the formula and tubing supplies from Intermountain Home Care costs $120/day. This is equal or greater than my husbands middle-class daily salary. And this example is JUST to feed them - it does not include their breathing equipment, walking equipment, orthotics, spinal surgeries, other surgeries, therapies, intensive-care visits and regular specialist visits.

I would like those of you that are afraid of change, to open your mind to the idea that profit-driven Insurance Companies (as there is no other kind) actually have no place being in charge of the countries health - they do a poor job indeed and are most certainly NOT the solution. I understand that Insurance Companies are very powerful in the political arena, but it is time for a change - a much overdue change. I know that many people are afraid of the change that needs to happen, but that is not a good enough reason NOT to be courageous and make the change.

The stress that the current system puts on the family, society and the economy is intense - so intense that my words can't adequately describe my current emotional state as I continue battling for the needs of my children. Did you know that American-made medical supplies are at LEAST three times more expensive here than in Australia, just because they can be - all connected with the idea that insurance is covering the bill, therefore lets make the price whatever we want. Not only does insurance NOT cover the bill for our children, but it is a completely broken system that needs to be fixed by Universal Health Care like every other first world country.

It does not matter that a new tax will have to be introduced - people will no longer have the financial burden of large monthly insurance payments, plus copays, plus out-of-pockets, plus deductibles. All the reasons to fear Universal Healthcare are inconsequential. I am sure you have read the research and know how much money will be saved on the reduction of paperwork alone, by switching to Universal Healthcare. I am also sure that many of you know how much money is wasted in the current system. Please be open to this possibility and do your due-diligence by researching the facts.

I have come to know through difficult and highly stressful experience, that there is no such thing as "effective coverage" and "affordable coverage" when you are truly ill and have healthcare needs that surpass the odd doctors visit, breast screening, ear infection or broken arm. More Insurance is NOT the answer, and I mean this sincerely. Insurance Companies are designed to NOT help sick people - they are public and need to make money for their CEO's and investors. Insurance Companies truly are designed to help healthy people - because they don't need help.

Insurance for all is not the solution and it simply will not work.

I believe there are many reasons why the US is not as great as it once was - and the Insurance-run health system is most certainly one of the reasons, I sincerely feel this. It is a cold-sore on the face of America.

"Beautiful Children, Living in a Broken System"

Great Website Providers

2008-11-09T10:15:00.000-08:00

I have just recently finished developing a website for a great organization called Dynamic Screening Solutions. Dynamic Screening Solutions (DSS) is a web-based paperless solutions company that focuses on screening and form fill completion. DSS are the brains behind Utah Clicks and Indianna WINS, two great resources for people who need to tackle the unending stream of paperwork that is required to receive Health benefits in the USA.

I can personally attest to the time saving power of Utah Clicks, who not only helped me begin receiving care for my daughter Phoenix, but also get my son Isis "in the System" for medicaid.

I still think the Government side of the process is taking way to long, I have the thank DSS and Utah Clicks for doing their part to help people in situations like myself.

The Move to USA

2008-08-08T10:06:00.000-07:00

For various reasons our family has decided to move back to the United States of America. In preparing for the move a lot of things were considered. We knew there would be a lot of challenges with the healthcare system, but now that we are here we never know it would be so bad. We are fighting an uphill battle to get care for our children without going bankrupt. So far we a very fortunate to have great support agencies like "Utah State Universities Up To Three Program" who have provided Physical Therapy, help buying PediaSure, and providing Walking frames, and other great tools to help Phoenix develop her full potential.

In this war (make no mistake it is a war) to get the rights my children deserve, Jasmine and I have began investigating all our options. One big hope for us currently is the change of government and some of the reforms that are going to take place. Our family urges you to do you part to atleast investigate alternatives to the broken system we currently have in place by visiting change.com. You'll find lots of resources and articles there in regards to Single Payer Health Care.

A Brief History

2007-06-13T18:52:00.000-07:00

Isis was floppy from birth. He could never hold up his head while on his tummy, crawl, walk, run, jump, skip, hop or climb walls and drive us crazy (we were lucky in some ways). He eventually learned to walk at age two and a half with the aid of a walking frame which we were lucky to find in a room of discarded equipment at a local early intervention centre. To this day, at five years of age, he can balance himself enough to walk, but he cannot run, climb, jump, skip, hop, play on the playground, reach things on the floor or get up by himself.

For five years Isis remained a mystery - it felt to us, that he was in the too hard basket. Neurologists, Paediatricians, Gastroenterologists, Cardiologists, General Practitioners, Orthopedics, Speech Therapists, Occupational Therapists, Physio Therapists, Feeding Teams and Surgeons had no idea at all as to what was causing Isis' muscle weakness. A muscle biopsy was taken, with no distinct results; MRI's were performed on his head and neck - things looked fine; And muscle tests were performed with no interesting results. Nick and I were experiencing so much anxiety regarding Isis' health, not only because was he extremely floppy and not reaching any of his motor milestones, but because his eating and drinking was progressively becoming less and less. He appeared to have no appetite whatsoever and wasted away to a mere skeleton, which frightened other young children when they saw him with his shirt off. Doctors did not realise how serious his eating condition was and it was over a year before naso-gastric intervention was finally taken.

Nick and my imaginations were going crazy because no body could give us any information. We were thinking tumours? Tumours? Tumours? None of the doctors agreed because he wasn't showing any signs of having a tumour anywhere. Having been given no helpful information, our imaginations were left idle and frantic. Only once in five years was the word 'Muscular Dystrophy' mentioned to us - and by a social worker of all people. Not knowing what he had, and therefore not knowing what to expect in his future, we dealt with whatever symptoms presented themselves as they presented themselves. This meant hundred of hours of Occupational Therapy, Speech Therapy, Hydrotherapy, physio therapy and many fruitless visits to the feeding team and dietitians.

In addition to all of his motor delays, feeding problems and speech problems, he had many pneumonias from a very early age (three months).
It is only recently that we have discovered that this is because he has an extremely inadequate cough due to his muscle weakness, and when things get too hard, he gives up coughing all together. His respiratory weakness is so serious that he had to be resuscitated while fighting a common virus, the week he turned three. This resuscitation was followed by two and a half weeks in intensive care, on a ventilator that breathed for him (with frequent suctioning to get the secretions that he was too weak to cough up).

It was only by sheer luck that Isis was finally diagnosed. Members on the board of neurology at PMH saw Isis about once a year to have a group brainstorm. Dr Phillipa Lamont happened to see Isis at this particular brain storm in 2006. She had just been at a Medical Convention in Istanbul where Dr Kevin Flanagan spoke about Rigid Spine Muscular Dystrophy. Isis had begun to develop scoliosis and spinal rigidity at age four - at the time of this brainstorm. This discovery set off alarm bells and Dr Lamont mentioned Rigid Spine Muscular Dystrophy. So of course we went researching straight away - on the internet and at the university library. We new instantly that this is what Isis had. He fit it like a glove. We finally knew. We also found out that it was a recessive disease with a 25% chance of inheriting it with each child - and I was eight months pregnant at the time.

It has been confirmed that our daughter Phoenix also has Rigid Spine Muscular Dystrophy and so we begin the sad journey of helping her reach her physical potential and overcoming all the obstacles that come along the way. Her obstacles seem greater than Isis in some ways, as she is so much weaker than he ever was. My heart breaks and then re-breaks before the previous break has had time to mend. It is hard, but they are beautiful, loving children and I would not wish them any other way.
(However, miracles are welcome.)

I know that there are more cases of Rigid Spine Muscular Dystrophy out there - people, both children and adults, who have been on the too hard basket all of their lives, or possibly even mis-diagnosed - who have not received a proper diagnosis because literally no one knows about this disease. Word needs to get out. A gene test can be performed and support can be received from wonderful organisations like the Muscular Dystrophy Association of WA.

HERO: The Isis Barfuss Cough Assist Campaign

2007-05-03T01:22:00.000-07:00

After attending the 2007 Muscular Dystrophy Moving FOrward Conference, Jasmine Bailey-Barfuss, Vivienne Bailey, and Nick Barfuss decided it is time to act, and help aquire an Emerson Cough Assist machine for Isis Barfuss, in hopes that he can more efficiently battle viruses this winter.

You can learn more about the HERO: The Isis Barfuss Cough Assist Campaign by visiting the website established to help in online donations. any support you can give is greatly appreciated. even small donations get us steps closer to purchasing the expensive machine.

Join us in our quest for obtaining this unique device for Isis...

Playtime Physio Regimes

2007-05-03T01:02:00.000-07:00

Below is a great play time regime for ISis, that was set up for us by Therapy Focus a great orginisation here in Australia that helps with Physical Therapy, Speach Tehrapy, and other aspects of disabled childrens lives.

Playtime Regime #1

Eating Time
Tell him it’s time to eat – do not ask him if he wants to eat because the answer will almost always be no – set a goal (like 10 or 13 bites), praise him and keep eating time positive.

Play Time:

Stepping Stones #1:
Have him walk along the stones twice (make it tricky). Use only a pinky to support him. Keep your hand floppy so that it is giving as little support as possible.

Stepping Stones #2:
Have him reach down and touch one stepping stone at a time. Do not give him support. Have him hold onto his knees for support. Switch hands each time. This will provide a good stretch for his ankle contractures and his back contratures.

Bike Riding:
Have him ride a bicycle around the rubbish bin two times. He may need assistance lifting his leg to get on and off the bike. Compliment him to build confidence. Walk beside him at first until he feels safe enough to do it by himself. Encourage him to use the peddles.

Leg Stretch:
Sit on the grass with him. Have him stretch his legs straight in front of him. Stretch out your legs so that they meet in the middle. Hold hands and try to pull each other. Make it a pulling competition. Make sure you pull him too (don’t just let him win each time) so that his legs and ankles get a good stretch down the back.

Free Play:
Encourage him to kick balls, help him to climb ladders occasionally and encourage him to swing on the bars. Lots of running is good for his contractures. Encourage him to join in playing with the other children and use his imagination.

Playtime Regime #2

Respiratory Physio:

Blow bubbles:
Have Isis blow bubbles, blowing his breath for as long as possible. Encourage the other children catch and pop the bubbles.

Blowing with Straws:
Have Isis crawl on his hands and knees and blow a ping pong ball into a goal of some kind, using a straw. Encourage the other children to join in.

Free Play:
Encourage him to kick balls, help him to climb ladders occasionally and encourage him to swing on the bars. Lots of running is good for his contractures. Encourage him to join in playing with the other children and use his imagination.

General Assistance Tips

Needing Help Up:
- In the Playground:
  Tell him to kneel first and then give him your pinky to hold onto. Tell him to hold his knee with his other hand. Keep your pinky quite floppy.
- On Sand:
  Tell him to crawl to the pole and use the pole to get up.
- In the Classroom: He can use the stool, a chair or table to get up and down. Encourage him to crawl to the closest thing that can help him.

Needing Help Down:
- In the Playground:
  Give him your pinky for support and let him kneel down, then sit. You do not need to give him anything other than your pinky.
- On Sand:
  He can sit down by himself because the sand will create a soft landing for his bottom.
- In the Classroom:
  As Above

Isis almost died!

2007-05-03T00:31:00.000-07:00

Isis Barfuss nearly died the day before his third birthday, because he couldn’t cough. Three weeks earlier he had been rushed to intensive care at Princess Margaret Hospital for Children. He had a virus that caused the mildest of colds in others, but for Isis, it proved potentially fatal, all because he couldn’t cough.

He required respiratory intervention with a b-pap for four days in intensive care and remained on the ward for two and a half more weeks of seemingly futile physiotherapy, all because he couldn’t cough. Towards the end of his hospital stay, he caught an even more deadly virus from a nurse or another patient and was readmitted to PMH two days after coming home, all because he couldn’t cough.

For Isis’ mother, this virus gave her a head ache and temperature. For Isis, still weak from the previous infection, this virus caused his little body to give up and shut down, because he couldn’t cough. Physio, suctioning and the b-pap were useless at this stage. Because Isis’ congenital myopathy diagnosis was unknown and therefore treatment of his myopathy unknown, the doctors’ and residents’ confidence wavered and he was left on the ward (unable to lay down because of the fluid in his lungs) instead of being taken to intensive care for close one on one monitoring. As a result, Isis’ body gave up fighting while on the ill-equipped ward and he had to be resuscitated, all because he couldn’t cough.

A ventilating machine breathed for him in Intensive Care for the next two and a half weeks, all because he couldn’t cough. He had his third birthday semiconscious and scared, because he couldn’t cough. In his five short years thus far, Isis has had countless pneumonias, broncialitis’ and a partially collapsed lung, because he can’t cough. He has had dozens of anti-biotics, steroids and asthma medication, prescribed by unsure doctors as a token gesture to make his parents feel like something is being done, but all he needs to do is cough!

Intense physio may help loosen some of the fluid in his lungs, but it is almost ineffective, because he can’t cough the fluid up. He is hospitalized every winter and has almost died, just because he can’t cough. Princess Margaret Hospital for Children does not have a Cough Assist machine.

Notice a theme here? Isis needs help coughing. We discovered a great device that will hopefully help in this aspect of Isis illness called th Emerson Cough Assist. as a result we have started a campaign to help raise funds for the (quite expensive) machine. you can find out more information on the HERO: The Isis Barfuss Cough Assit Campaign website.

Junk Food

2007-05-01T01:12:00.000-07:00

Look at all of these lollies (That's candy for you Americans!)

Isis dosen't eat. He has partly Physcological issues and partly choking related issues which makes it hard and scary for him to eat food. Because of this he has a peg in his tummy which allows us to feed him. Most of the times Jasmine and Nick worry about his eating habbits. that was until today...

For the past six (6) months Isis has been attending his friends birthday parties, and he always comes home with little party bags full of junk food. Now most kids would eat this down, but Isis being the non-eater he is just gives us his junk food. Rather than throwing it away we have been saving it so that when his birthday comes we can recycle the lollies! (Yeah were white trash!) any way it was really shocking to see how much junk food a kid would eat in a six month period! just look at the picture above!

Isis sells his art

2007-04-23T23:31:00.000-07:00

At the 2007 "Moving Forward" Muscular Dystrophy Conference gala dinner, Isis help to fundraise for the event by selling four original artworks. Inspired by the fantastic Dave Devries and the work of his at The Monster Engine website, Isis drew unique and creative images which his parents Jasmine and Nick Barfuss colored.

These images were originally intended to sell individually, but ended being bought by an interested party at $750.00 AUD.

Below are the images that we sold to assist in the Muscular Dystrophy Association of Western Australia fund raising for Statewide Cough Assist machines.

Isis & Mommy

Size: 210mm x 297mm
Media: Berol Prisma Colours on paper
Drawing: Isis Barfuss
Colouring: Jasmine Bailey-Barfuss

Isis with baloon

Size: 210mm x 297mm
Media: Berol Prisma Colours on paper
Drawing: Isis Barfuss
Colouring: Jasmine Bailey-Barfuss

To Infinity & Beyond

Size: 210mm x 297mm
Media: (Sloppy) Berol Prisma Colours on paper
Drawing: Isis Barfuss
Colouring: Nick Barfuss

Obiwan Kenobi, Darth Vader and Hotdog

Size: 210mm x 297mm
Media: (Sloppy) Berol Prisma Colours on paper
Drawing: Isis Barfuss
Colouring: NickBarfuss

Useful Documents

2007-04-03T00:44:00.000-07:00

Below is a list of articles that have been saved from various sources off of the internet that relate to Rigid Spine Musular Dystrophy. The information is rare and hard to find, being that there is little out there.

We hope this list will grow, as we accumulate more and more articles that will help us, and others deal with what RSMD has instore.

Congenital Muscular Dystrophy with Rigid Spine Syndrome: A Clinical, Pathological, Radiological, and Genetic Study
This article basically covers the ins and outs of Rigid Spine, using a case study of 4 children in America to highlight problems, and concerns. THis was the first article we ever found.

Rigid spine syndrome (RSS)
A good article that isn't as techinchal as the previous document above, it talks on a more parental level.

Early onset myopathy with a novel mutation in the Seleno protein Ngene (SEPN1)
Very complex, but very thourough. This article made a lot more sense after we attended the 2007 Musular Dystrophy "Moving Forward" Conference.

Check this page often as we will post articles we find here...

Poster Boy for MD

2007-03-10T00:19:00.000-08:00

Isis was selected as the poster boy for the 2007 Muscular Dystrophy "Moving Forward" Conference to be held at the University of Western Austalia.

This conference will bring together Parents, Doctors, and profesional to meet and share ideas. more information can be found at the muscular dystrophy website. This is going to be one awesome event.

Here are the images that were selected to be used for advertising and promotional material for the conference

What a great kid, Isis loves acting like any super hero especially the following: Superman, Spiderman, A star wars Clone Trooper, Batman, and a Jedi. He looks stong in this pictures which is great because when a cold hits, it hits hard!

Mission Statement

2007-02-05T18:15:00.000-08:00

On August 2nd 2001 my wife gave birth to a wonderful baby boy. We named this precious child Isis Barfuss. We were young and perhaps nieve parents, which is why it took us a while to realize something was different about our son Isis Barfuss. Isis has a rare form of Muscular Dystrophy known as Rigid Spine Syndrome (RSS).

In 2006, wiser and more knowledgeable about parenting and RSS related issues my wife gave birth to a beautiful baby girl that we name Phoenix Barfuss. It didn't take us long to realize that she too, had RSS.

It has been a long road to learn how to best help our children cope with their problems. The purpose of this website is to not only help us learn more about Rigid Spine Syndrome, but to share our experiences in hopes to help others deal with this congenital problem.

Our goal is to gain as much knowledge as possible about Rigid Spine Syndrome using this website as a tool. We want to complete the following objectives:

Meet parents that have children with Rigid Spine Syndrome

Allow visitors to post comments, and ideas related to RSS related issues

Share experiences, struggles, milestones, and other points of issues that may encourage discussion

Phoenix A'leyaih Lila Barfuss

2007-01-05T18:24:00.000-08:00

Born April 19 2006 Phoenix A'yliah Lila Barfuss is beautiful, cuddly and really hard to make laugh! She love her brother Isis and parent very much. Though she can't talk yet she is practicing saying boo! and Da-Da!

In the picture above, Phoenix is enjoying a nice relaxing swing in her hammock. Astute viwers will notice her hair is everywhere! Phoenix is known for here hair wich has a mind of its own!

Phoenix's favorite food is definably chocolate.Her favorite person in the whole wide world is her brother Isis Barfuss who can always make her laugh! Phoenix is discovering that her favorite thing to do is stay up really late and not go to bed when she is supposed to!

In the Picture Above Phoenix is cuddling with her beautiful mommy Jasmine. These two are nearly inseparable...

Isis Dragon Blade Barfuss

2007-01-05T18:22:00.000-08:00

Born August 2nd 2001 Isis Dragon Blade Barfuss is the protector of the known universe. His lovely, kind always angelic nature makes him the best son a parent could ask for! He is talented in art, a skill of which he has been honing over the past 5 years.

Above, Isis is holding onto the monkey bars at his first day of Pre-Primary. He loves school and loves his friends. This picture is a little out of date, as Isis recently got glasses! Yes he is going to be blind as a bat just like his father!

Above, Isis and his dad Nick are enjoying a very emotional confrontation. They are deciding who gets the right claim Jasmine as their one and only girl. Obviously for different reasons!