Showing posts with label terminal disease. Show all posts
Showing posts with label terminal disease. Show all posts

Thursday, February 25, 2010

Rare Disease Day 2010 February 28



My friend E sent me this link, both our children had died of this very rare syndrome, Campomelic Dysplasia, This CD, I was told affect 1 in 5 million children. Some are fatal like E's daughter and my son. Some are not so bad, still it is a terrible thing.

http://groups.yahoo.com/group/campomelicfamilies/

I was going to do a post on Celiac disease when I knew someone who suffers so badly from it. I took this photo of gluten free spaghetti. Celiac sufferers are not allowed gluten.

http://www.medicinenet.com/celiac_disease/article.htm

http://www.rarediseaseday.org/article/download
http://www.rarediseaseday.org/article/about-rare-disease-day

On this day of February, think of those unfortunate people and their families.

Rare Disease Day is an annual, awareness-raising event co-ordinated by EURORDIS at the international level and National Alliances of Patient Organisations at the national level
Who can take part?

Individuals, Patients,Patient Organisations,health professionals, researchers, drug developers, public health authorities - the more, the better!
When is Rare Disease Day?

Rare Disease Day is observed on the last day of February. Awareness raising events will take place in each participating country.

* To find out what is happening in your country, click here.
* To find out what EURORDIS is doing to bring attention to rare diseases on this day, click here.

Why is Rare Disease Day important?

Rare Disease Day is the perfect occasion to inform or remind people that rare diseases need to be paid special attention to, because:

Rare diseases are life-threatening or chronically debilitating diseases with a low prevalence and a high level of complexity. Patients with very rare diseases and their families are particularly isolated and vulnerable. The life expectancy of rare disease patients is significantly reduced and many have disabilities that become a source of discrimination and reduce or destroy educational, professional or social opportunities.

The rare disease patient is the orphan of health systems, often without diagnosis, without treatment, without research, therefore without reason to hope.

The lack of specific health policies and the scarcity of expertise translate into delayed appropriate diagnosis and difficulty of access to care. The national healthcare services for diagnosis, treatment and care of rare disease patients differ significantly in terms of their availability and quality. European citizens have unequal access to healthcare services and to orphan drugs.

Research on rare diseases is scarce

Tuesday, November 11, 2008

You promised me.

“You promised me! You promised me!” Greg heard Felicity sob inconsolably while unsuccessfully trying to stifle her cries with her shaky hands. Even with her slurred speech, the words pierced his ears like a sharp needle.

Greg’s fingers shook as he clutched the carton the courier had delivered eight weeks ago. He stood in the hallway and glanced towards the north facing corner of the living room which was now Felicity’s room and sick bay. Felicity could not walk and it had become too strenuous for him to carry her up and down the stairs to sleep in their bedroom.

The district health nurse had arranged for the loan of a hospital bed, and together, they tried to make the corner as merry as possible. Sometimes during the day, Greg would work just outside the bay window, putting in new flowering plants in the boxes in the hope of cheering Felicity up. In winter, there was not much he could do to brighten the place; he was a patient gardener, not a miracle worker. Felicity has been sick for so long that she would see the bleak winter twice.

*******

Twenty months ago, Felicity was once a physically active police woman . Twenty months ago, Felicity came home from her daily jog dragging her left leg. Her chest muscles were tightening and she could not understand why. Shocked by her pale complexion, Greg was ready to call the ambulance when she collapsed and hit the floor with a thud.

The thirty minutes ride in the ambulance seemed forever. The paramedics rushed her to the A & E and the duty doctor and nurses attended to her straight away. She underwent lots of tests to find out what was wrong with Felicity. Then they admitted her for further observation.

The Specialist doctor told Greg that Felicity has MND or Motor Neuron Disease and the prognosis was no good. He gave Greg a lot of information about MND and a lot of printed notes. Greg tried to digest as much of the medical notes as he could.

“Excuse me! Isn’t MND a disease that strikes men?” Greg asked after reading from the notes.

“Yes, there are more male than female patients.” The doctor replied.

“Isn’t Felicity too young to have MND?” Greg asked in disbelief and unconsciously shaking his head while talking.

“I am afraid that MND affects younger patients too.”

“Is it terminal?” Greg whispered hoping to get a negative reply.

“Yes, I'm afraid so but she might have quite some time,"

“How long has she got?”

“I cannot tell. It could be two years. Meanwhile we try our best to keep her as comfortable as we can.”

Felicity came home; her sickness progressed faster than other patients. She applied for sick leave in the hope that her sickness was just temporary and she would return to work once she was well.

Soon Felicity the use of her legs, and Greg got her a wheel chair. Though depression was not a symptom of MND, Felicity became broody and moody and went through periods of not talking to Greg or the nurse. She refused to go out or see any visitors.

When it came to the stage that Felicity was betting worst, Greg took time off to give Felicity palliative care rather than depend on the district health nurse. Greg thought that her moods might improve with him at home. It didn't, Felicity had mood swings and she wasn't the bubbly girl he had married twenty years ago.

Felicity hated it when she had to depend on Greg to change her tampons. She hated it when she had to wear adult diapers. She knew that Greg didn’t mind, but she hated it. She didn’t want to drink or eat thinking she would pee or shit less. Greg was unfazed, he continued to brush her hair and teeth with tenderness that the nurse couldn't give her.


*******

Greg’s thoughts came back to the parcel he was holding. He was getting cold sweat and his heart beat fast. Shortly after Felicity found out that she had MND, she searched all she could from the internet. She saw how shriveled up a man Stephen Hawking had become. She could not see beyond his sorry physical state and see the brilliant work he continued to do. To her, he was a far cry from the handsome scientist he was before he was struck down with MND. She didn’t want to look like him though she knew her looks were already wasted.

Felicity pleaded, “Let me have some dignity, please.”

Without looking at Felicity, Greg reluctantly agreed, “Yes.”

Felicity implored, “Look into my eyes and promise me that you won’t let me die like a dog.”

Greg felt compelled to look at Felicity, “I promise you, sweet heart.”

Every day, she asked, “Has the parcel arrived yet?”

“No dear,” Greg would reply.

What Felicity had done was secretly go to a website which showed her how to kill herself. She ordered for a euthanasia kit and made Greg promise that he would administer the drug to her.

Greg was in a great dilemma. He loved Felicity and wanted her alive as long as possible. He had a hundred and one questions. Was he being selfish? Was he so blinded that he denied that the quality of her life had diminished. Had it deteriorated to such an extent as to her own words: a dog’s life. Had Felicity the right to a peaceful death with dignity? Was he keeping her alive for himself? Was he prepared to go to prison? …………………..

Greg fought hard to keep his tears from bursting through the dam. He had already him told that big boys don't cry. He had not cried since he was eight years old, and that was permissible according to his mum because a dog had bitten him in the park. He wiped his tears with his shirt sleeve and buried his face in his hands while inhaling deeply.

Finally he stood up, glanced toward's Felicity who was staring out of the wiindow. He whispered," Sorry, sweet heart. I can't do it." He quietly tuck the euthanasia kit back into his closet.

**********

Recently Washington State passed an assisted death initiative, making it the second state in USA to approve some sort of medically supported suicide. Oregon enacted the Death with Dignity Act in 1997.