Taken from The British Thoracic Society:
Up until 2003 no successful attempts were made in the UK to create a register of rare lung disease patients.
On the continent there is a very different attitude. In France in particular, there is the view that patients with a rare disease have the right to receive as much attention as those with common diseases. Thus the French have coined the term "orphan" for diseases which do not receive adequate attention because of their rarity. They, and some other European countries, have established large national databases of patients with "orphan" diseases, and of doctors with expertise in those conditions; both in respiratory medicine and other specialties as well.
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Types and causes of orphan and rare lung disease can include:
If you our a family member suffer from a rare lung disease that isn't on our list please let us know and we will be happy to add it.
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Rare lung disease poses a challenge for physicians to diagnose and treat. For the majority of these diseases there isn't a simple test which can determine what it is the patient is suffering from. Diagnostic tests may involve:
Blood Tests - Blood is drawn from a suitable vein usually in the elbow crease or the back of the hand to test for many different things that may indicate lung disease. Pulmonary Function Tests - These measure how well the lungs take in and exhale air and how efficiently they transfer oxygen into the blood. Chest X-ray - An x-ray (radiograph) is a painless medical test that helps physicians diagnose and treat medical conditions. Radiography involves exposing a part of the body to a small dose of radiation to produce pictures of the inside of the body. X-rays are the oldest and most frequently used form of medical imaging. CT scan - CT imaging uses special x-ray equipment to produce multiple images or pictures of the inside of the body and a computer to join them together in cross-sectional views of the area being studied. The images can then be examined on a computer monitor or printed. Arterial Blood Gases - Blood is drawn from an artery usually in the back of the wrest to check the blood oxygen levels, blood PH, the carbon dioxide levels. This tells the physician how well the patients lungs are able to oxygenate the blood and may indicate the use for supplemental oxygen therapy. Bronchoscopy - This is a medical procedure where a flexible tube is inserted into the airways, usually through the nose or mouth. This allows the practitioner to examine inside a patient's airway for abnormalities such as foreign bodies, bleeding, tumors, or inflammation. Bronchoalveolar Lavage - This is a medical procedure in which a bronchoscope is passed through the mouth or nose into the lungs and fluid is squirted into a small part of the lung and then recollected for examination. Lung Biopsy - A lung biopsy removes a small piece of lung tissue which can be looked at under a microscope.
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Treatment for lung disease may include:
Immune suppressants and corticosteroids - These drugs are used to suppress the immune system in some lung diseases that are caused by an over active immune system. They are often used to treat inflammation. Some patients can achieve fairly good control of their conditions on these medications. There are potential consequences to their use though, the side affects can sometimes be terrible. The power of corticosteroids should not be feared, but must be respected. Nebulisers - liquid drugs such as Salbutamol and Atrovent are turned into a fine mist that can be inhaled directly into the lungs. The majority of drugs delivered via nebuliser are to ease bronchospasms or ‘tightness’ of the chest. Inhalers - These are delivery devices designed to deliver drugs directly into the lungs, so that they go where the disease is and minimise effects to the other parts of the body. Many different drugs can be given via inhaler, but the most common ones are corticosteroids, which are used to damp down airway inflammation, and bronchodilators of various types which are used to try and open up narrowed airways. Intravenous and Long Term Antibiotics - Typically used during chest infections but some antibiotics such as Azithromycin have been found to have anti-inflammatory properties and are used long term. Supplemental vitamins - People with severe lung disease may sometimes find it difficult to eat and may suffer from osteoporosis due to being treated with Immune suppressants and corticosteroids. If this the case they may require vitamins such as calcium to help bone growth. Painkillers - Pain can be a feature of lung disease for many reasons, such as pain from pleurisy (inflammation of the lining of the lung), from rib fractures due to coughing, from overworked respiratory muscles or as a side effect of other medications. The exact painkiller used will depend on the patient and the cause of the pain; there are several different classes of painkillers and they may not all be suitable for someone with severe lung disease. Supplemental oxygen therapy - Oxygen therapy benefits the patient by increasing the supply of oxygen to the lungs and thereby increasing the availability of oxygen to the body tissues. In severe lung disease the lungs ability to transfer oxygen into the blood stream becomes impaired leaving the patient feeling drained, breathless and sometimes blue. Oxygen should be considered a drug and the appropriateness of it and the dose in an individual patient needs should be decided by your doctors following tests of blood oxygen levels. The long term affects of low blood oxygen levels can include pulmonary hypertension and right sided heart failure. Non-invasive positive pressure ventilation (NIV) - In the late stages of lung disease and during type II respiratory failure carbon dioxide retention can become a problem. Carbon dioxide is dissolved back into the blood stream this in turn causes an imbalance in the blood PH level making the blood acidy. Very high levels of carbon dioxide can lead to tachycardia, seizures, coma, respiratory arrest and eventually death. NIV is used to help correct the imbalance of this gas within the lungs. NIV is usually delivered by a tightly sealed mask. There are various different settings and levels of support that can be given by most NIV machines depending on the specific lung disease and blood gas abnormalities. Chest Physiotherapy and Pulmonary rehabilitation - Chest physiotherapy is generally performed by respiratory therapists, breathing is improved by the indirect removal of mucus from the breathing passages of a patient.
Techniques include clapping or percussion: the therapist lightly claps the patient's chest, back, and area under the arms. Percussion, while effective in the treatment of infants and children, is no longer extensively used in adults due to the introduction of more effective and self-management focussed treatments.
Getting out of breath can be very frightening, which makes the breathlessness worse. In trying to avoid this, people often reduce the amount of activity they do. However, this does not help, as over time you become unfit, tired and more breathless. Pulmonary rehabilitation can help by breaking that vicious cycle.
A typical pulmonary rehabilitation course includes:
• a gentle physical exercise programme, carefully designed for each individual
• advice on lung health and coping with breathlessness Transplantation - In end stage lung disease lung or heart/lung transplantation maybe considered. When transplants are successful the patient may return to an almost normal lifestyle but there are potential problems, such as infection, recurrence of the original lung disease in some cases, and rejection of the organ.The transplant lists are often long with many patients unable to find suitable donors in time to save their lives. Please Click Here to sign the organ donor register.
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Thanks to Rachy's Interstitial Lung Disease team at The Royal Brompton Hospital. Without them and their expertise she would not be here today.
Also thanks to Sheffield Children's Hospital for persisting with trying to find a diagnosis for Natalie and saving her life on numerous occasions.
Thanks to the Respiratory Team at The Freeman Hospital and the Rheumatology team at Royal Victoria Infirmary (RVI) for diagnosing Ayesha correctly and quickly and persisting with getting her disease under control.
Patients and families affected by any sort of lung disease.
The doctors and researchers working to find a cure for these devastating diseases.
"The more we share, the more we learn,
The more we learn, the more power we have,
The more power we have, the louder our voice
In finding an answer and making a choice".
About the founders:
I'm Rachy, 20. I was diagnosed with a rare interstitial lung disease called obliterative bronchiolitis (OB)
when I was 15 years old. I worked as a stable hand and contracted the disease after repeated pneumonia (which I was more prone to due to being asthmatic) and hypersensitivity pneumonitis left me with massive amounts of damage. OB is a rare and life-threatening form of fixed obstructive lung disease. Bronchiolitis means inflammation of the bronchioles, the tiniest airways in the lungs. Obliterans refers to the fact that the inflammation of the bronchioles partially obliterates or destroys the airways completely. This leaves permanent damage in the form of fibrosis. I'm on oxygen 24 hours a day and rely on a non-invasive ventilator to breathe for me at night.
Late in 2007, after 4yrs of living with lung disease I was also diagnosed with pulmonary hypertension, this condition causes the blood vessels around my heart and lungs to spasm and constrict leaving me with dangerously low oxygen levels. There is no cure and due to the complexity of my case I’m not suitable for transplant.
Despite all of this I remain positive and smiley and enjoy my life, I believe the challenges I’ve faced in my life have helped shape me into the person I am today. I’ve met many inspiring people on my journey so far and I’m sure I’ll meet many more.
Click Here to find out more about me and visit my Myspace.
Hi, I'm Ayesha, 15. I used to be a bubbly, lively kid like everyone else. Playing with my friends, running around and doing weird and wonderful things. I began to notice a problem around age 9 when I was diagnosed with asthma. It was fairly mild and I only used inhalers. However in February 2005 I had a bad attack which I needed hospital treatment for, from then on I was in hospital every month needing treatment sometimes I only got a week at home at a time. The attacks became severe I was admitted to Intensive care on a couple of occasions. I became dependent on a large amount of asthma medication. Despite this I still need regular hospital admissions and was becoming less tolerant of physical activity.
In august 2007, when I was 14 we decided to move house. Soon after arriving in the new city I suffered another asthma attack and was admitted to the local hospital. Whilst there my condition was not improving so I was referred to a specialist. After tests including a CT scan and a Lung biopsy it was discovered that the diagnosis of asthma was incorrect and my lungs had another sort of inflammation. The disease was thought to be autoimmune.
After about 3 months of waiting my specialist reached the diagnosis of Wegener's Granulomatosis which is a type of Vasculitis. It is systemic meaning it affects my whole body. It has affected my lungs leading to the formation of Granulomas and caused a type of interstitial lung disease. Because the disease was not treated correctly for three years I am now oxygen dependent and use a Bipap ventilator overnight. However I try not to let my condition get me down too much and try to stay as positive as possible.
Sufferers of orphan lung disease often get a poor deal because there just isn’t enough sufferers of these diseases so very little money is put into finding new treatment or a cure. This means physicians are often inexperienced at dealing with the diseases. This inturn often means misdiagnosis and poor management of symptoms. Drug companies do not see profits in rare diseases and numbers are often too small to do good clinical trials. This leaves families and sufferers feeling lonely and isolated.
Help us to help the British Lung foundation support people affected by rare lung disease.
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Patients and families affected by lung disease:
Justine Laymond's Story
I was a very active woman managing a department in a Health Club, and then part/time :- a children's entertainer, and a dance teacher with a great social life! Then aged 32, I was diagnosed with Lymphangioleiomyomatosis (LAM).
My life fell apart as the illness ravaged my lungs as hundreds of cysts grew inside my lungs blocking my airways - causing the cysts to burst. This motion then made my lungs collapse (total of 15 times). I endured so much pain and suffering and times whereby I thought that my life was over every time my lungs collapsed - as I was left gasping for each breath, and one time saying my goodbyes as the suffering was too immense.
I stayed on oxygen 24hrs a day and became wheelchair bound, having nurses care for me - as I became so breathless. From once an active person to becoming like a vegetable. However, I always remained a very positive person and wanted to fight my battle even when left on life support for so many weeks, contracting so many infections including MRSA. There was not much hope left for me, but after waking up from my induced coma...my battle began to get back on the waiting list for a double-lung transplant. Little did I know, that almost 2 years waiting for this miracle - that my life would be saved within a few days.
Click Here to read my full story and find out more about LAM.
My name is Gaye Beasley. In November 2004 what I believed to be a bad cold, quickly turned into something worse. I was suddenly very short of breath just doing normal daily activities. I was weak and had no appetite and I had a very dry cough.
I went through about five months of testing with no real diagnosis. In April of 2005 I underwent an open lung biopsy and was diagnosed with Acute Interstitial Pneumonitis, a rare lung disease for which there is no cure. AIP causes inflammation in the air sacs of the lungs which leads to scarring or fibrosis of the lung tissue.
This disease makes it very hard for me to breathe and therefore my life has changed tremendously. I had to stop working and I am on oxygen 24 hours a day. I take a lot of medication and I attend a pulmonary rehab group at Duke University four days a week, where I work out for about two hours. I have been evaluated for a lung transplant and that would be my last resort, however, I will not give up hope on finding a cure.
In 1999 I was starting my life. I had just gotten married and found out I was pregnant with our first child. That is when my symptoms started. I was extremely sick during this pregnancy. I had extreme shortness of breath, I was passing out, I had heart Palpitations and extreme fatigue. I was told it was due to my pregnancy and then referred to my primary care physician after I gave birth. I went about my life thinking that I had severe asthma. Then in 2002 after giving birth to our second child I started to go down hill. I couldn't even walk to my daughters room without being completely out of breath and on the verge of passing out. I went through every single test known to man until finally July of 2003 I was diagnosed with Idiopathic Primary Pulmonary Hypertension. At first I was extremely sick. I was told I would be lucky to live a few months. That is not the fact as we are in 2007 and I am doing the best I have ever done. I am now on a drug called SubQ Remodulin. Finally after finding the perfect treatment for me I am living as close to a normal life as I can get. Thanks for reading my story and stay positive. There is always a light waiting for you!
I have a rare disease called lymphangiomatosis (not to be confused with lymphangioleimyomatosis). I am on oxygen 24/7 and use a BIPAP ventilator at night. I've had a lung transplant already but there are no treatments for my underlying disease. I'm stable right now and pray that my lung function stays where it is. Here's my story.
I grew up thinking I had a bone disease. I was 6 when I first broke my leg and 4 years later I was diagnosed with lymphangiomatosis , a very rare malformation of the lymphatic system. When I was 14 I went to my bone doctor for a broken rib and he immediately sent me to a pulmonologist because he saw I had fluid around my right lung on my xray. I was drained several times, had a pleurodesis, an extremely invasive surgery during which they finally managed to stop the fluid. In my early 20's, the fluid came back on the left side. I again had a pleurodesis and fortunately it worked the first time around. After that, I was stable again for a few years. I began to have terrible morning headaches, was short of breath just walking on a flat surface, and had other symptoms which I found out later were due to my high carbon dioxide and low oxygen levels. I was told that my disease had invaded the lung tissue and that my lungs were beyond repair. I was in end-stage lung disease and needed a transplant. My husband and I moved to North Carolina from Florida. We chose Duke Hospital because a lung transplant had never been done before on a patient with lymphangiomatosis and we wanted the best. I got my new lungs in May 2004 and the surgery and recovery was the most difficult experience. I had a tracheostomy and was hospitalized for 4 months. My body accepted my new lungs, but my chest wall had been damaged from previous procedures and bone fractures so when I left the hospital, I still required oxygen. It's been 3 1/2 years and I've had no problems at all relating to the transplant, but I never was able to come off of oxygen.
I'm not able to go back to work, so I've dedicated my time to starting an organization to support patients with this disease, It's called the Lymphagiomatosis & Gorham's Disease Alliance.
Charities, organizations and websites that support and fund research into rare lung disease.
We support the Pulmonary Hypertension Association UK and the 'Hands Off' appeal against NICE.
BPOLD Supports research into 9 orphan lung diseases in the UK.
We support the Puffin Appeal and regeneration of some of the UK’s top hospitals in the North of England.
The British Lung Foundation Supports 7 million people across the UK with lung disease and is the only UK charity that aims to cure all lung diseases.
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I got interviewed on two radio shows this week for cystic fibrosis. They are having the great strides walk this week. I got two letters to the editor and an article published. I can't make up for the time I wasn't in my daughter's life. But I can fight like hell for a cure now. They told me she wouldn't live to be 8. She is 24 now. She has had to have 10 surgeries to keep her alive. The last church service I went to, the preacher told a story about a gator getting a little boy. A man asked about his awful scars. He said "oh I have better scars than that. These are the scars my mom left from saving me from the gator". The preacher then told another story about how his daughter went in for a painful, scary medical precedure and all he could reach to hold on to was her foot, and he felt foolish. Later the daughter told him how much it mattered, and thanked him for not letting go. Im hanging on to the last toe for my daughter, until a cure is found or the gator takes me.
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