QUOTE FOR MONDAY:

Fields’ disease: an extremely rare neuromuscular disease that causes muscular degeneration. The condition affects the nerves causing involuntary muscle movements. There are only two diagnosed cases, in twins Kirstie and Catherine Fields. It is believed to be congenital and appears to be progressive. There are no apparent effects on cognitive or intellectual abilities. The condition is still being studied.”

RxList (www.rxlist.com)

 

In the top 5 rare diseases is “Fields Condition”.

 

Llanelli (St Elli‘s Parish“; Welsh pronunciation: [ɬaˈnɛɬi]) is the largest town in the county of Carmarthenshire and the preserved county of Dyfed, Wales. Located on the Loughor estuary, some 10 miles (16 km) north-west of Swansea and 12 miles (19 km) south-east of the county town, Carmarthen, Llanelli is famous for its rugby tradition and as a centre of tinplate production.  Several communities nearby the town are often included colloquially in Llanelli.

Fields’ disease is considered to be one of the rarest known diseases in the world, with only two diagnosed cases. The frequency of this disease is therefore 1 in approximately 3.75 billion (although since the disease manifested in identical twins, the actual frequency is 1 in approximately 7.5 billion).   It is named after Welsh twins Catherine and Kirstie Fields, of Llanelli. Fields’ disease is a neuromuscular disease, causing muscular degeneration.

The disease was first noticed when the twins were four. Doctors have been unable to identify it and have not been able to match it to any known diseases. As a result, the Fields sisters have undergone numerous tests, but no treatment has yet been found. No definitive cause has been determined, and doctors have generally concluded that they were born with it.

We’re definitely getting into the nitty-gritty of the world’s rarest diseases when we’re talking about Fields Condition, a progressive muscle disorder that affects two sisters (Kirstie & Catherine Fields) and can cause painful muscle spasms up to 100 times each day. The disease is still predominantly a mystery to doctors, but in its wake it’s paralyzed both sisters and cut off their ability to speak, with the two now relying on electronic speech machines to communicate.

The extent of this disease is still not very well known. This very disease has had not shown any effect on their brains or personalities up to now. There is still the uncertainty of not knowing that whether the disease is fatal or not or what is the life expectancy with this kind of disease. If the cause of this disease is considered to be somewhat genetic, then there are possibilities of the twins passing this disease to their offspring’s.

However, it is made clear that this disease is definitely not communicable. However, due to the rarity of this disease, there is still uncertainty and lack of any form or equipment for the cure of this disease.

Regarding the twins alive, the twins require the use of wheelchairs for mobility and are unable to speak without the assistance of electronic speaking aids. They experience persistent and painful muscle spasms which are worsened by emotional distress. They are currently living with their parents, with the assistance of hospice workers. Doctors continue to administer tests to the twins in search of a treatment.

At this point this is all we know about the fields’ disease as the doctors are still researching on it and have not been able to find much on it.

QUOTE FOR THE WEEKEND:

Building healthy bones is extremely important.

Minerals are incorporated into your bones during childhood, adolescence and early adulthood. Once you reach 30 years of age, you have achieved peak bone mass.

If not enough bone mass is created during this time or bone loss occurs later in life, you have an increased risk of developing fragile bones that break easily.

Fortunately, many nutrition and lifestyle habits can help you build strong bones and maintain them as you age.

healthline.com

QUOTE FOR THURSDAY:

“After receiving the test results, a specialist will help you decide on a treatment plan. The goal of treatment is remission, meaning that the condition is no longer causing any complications. Many patients require no treatment at all but should be followed by a specialist regardless.

If you do need treatment, specialists often use medications that turn down your immune system’s activity. Several different medications can be prescribed to treat sarcoidosis. If your sarcoidosis of the lungs progresses to pulmonary fibrosis, your doctor may recommend additional treatments such as respiratory medications, oxygen therapy, pulmonary rehabilitation and in severe enough cases may consider you a candidate for a lung transplant.

American Lung Association

QUOTE FOR WEDNESDAY:

“In Caucasians, the disease often appears suddenly, which usually indicates a more mild form of the disease that is of short duration. African-Americans and Puerto Ricans, on the other hand, tend to develop the more long-term and severe form of the disease.

In the United States, the lungs are often the most common site of initial symptoms for those who experience a gradual onset of their long-term disease. Lung symptoms are common in African-Americans, Puerto Ricans, and Scandinavians. Persistent dry cough, fatigue, and shortness of breath are the most common initial lung-related complaints.”.

Cleveland Clinic

Part II Sarcoidosis

• Age and sex. Sarcoidosis often occurs between the ages of 20 and 40. Women are slightly more likely to develop the disease. • Race. African-Americans have a higher incidence of sarcoidosis than do white Americans. Also, sarcoidosis may be more severe and may be more likely to recur and cause lung problems in African-Americans. • Family history. If someone in your family has had sarcoidosis, you are more likely to develop the disease yourself.

Inflammatory Disease- Sarcoidosis or Sarcoid is a inflammatory disease that consists of granuloma.

Wide Spread Disease- Disease is wide spread in multiple organs.

Relapse-

  • The Sarcoidosis disease tends to come and go all of a sudden.
  • Disease may progressively develop as a serious illness.
  • Patient may experience several relapse throughout the life.

Granulomas-

  • Sarcoidosis or Sarcoid is a gradual progressive disease.
  • Microscopic lumps called granulomas start to appear in the affected organs.1
  • In most of the cases, these granulomas tend to clear with or without treatments.
  • There are few instances where granuloma grows in size and continues to be a part of the organ.
  • Granuloma eventually ends up as fibrotic lump but may cause several complications.

Causes

Doctors don’t know the exact cause of sarcoidosis. Some people appear to have a genetic predisposition to develop the disease, which may be triggered by bacteria, viruses, dust or chemicals.

This triggers an overreaction of your immune system and immune cells begin to collect in a pattern of inflammation called granulomas. As granulomas build up in an organ, the function of that organ can be affected.

Risk factors

While anyone can develop sarcoidosis, factors that may increase your risk include:

  • Age and sex. Sarcoidosis often occurs between the ages of 20 and 40. Women are slightly more likely to develop the disease.
  • Race. African-Americans have a higher incidence of sarcoidosis than do white Americans. Also, sarcoidosis may be more severe and may be more likely to recur and cause lung problems in African-Americans.
  • Family history. If someone in your family has had sarcoidosis, you’re more likely to develop the disease.

Complications

For most people, sarcoidosis resolves on its own with no lasting consequences. But sometimes it causes long-term problems.

  • Lungs. Untreated pulmonary sarcoidosis can lead to permanent scarring in your lungs, making it difficult to breathe.
  • Eyes. Inflammation can affect almost any part of your eye and can eventually cause blindness. Rarely, sarcoidosis also can cause cataracts and glaucoma.
  • Kidneys. Sarcoidosis can affect how your body handles calcium, which can lead to kidney failure.
  • Heart. Granulomas in your heart can cause abnormal heart rhythms and other heart problems. In rare instances, this may lead to death.
  • Nervous system. A small number of people with sarcoidosis develop problems related to the central nervous system when granulomas form in the brain and spinal cord. Inflammation in the facial nerves, for example, can cause facial paralysis.

QUOTE FOR TUESDAY:

“Sarcoidosis is an inflammatory disease that can produce small clusters of cells called “granulomas” anywhere in or on the body, including internal organs and the skin. A multi-organ disease, sarcoidosis may affect a range of systems, including the nervous system, musculoskeletal system, lymph glands, lungs, skin, liver, spleen, eyes, heart, brain, and kidneys. In some cases inflamed granulomas may interfere with the functioning of an organ. The disease is not contagious.”.

Icahn School of Medicine at Mount Sinai

QUOTE FOR MONDAY:

“Chest surgery at Mayo Clinic (also known as thoracic surgery) involves the organs of the chest, but extends to the esophagus (tube between mouth and stomach), the trachea (airway) and the chest wall (rib cage and breastbone).  From some chest traumas that happen a chest tube maybe needed.  A flexible chest tube is inserted into the air-filled space and may be attached to a one-way valve device that continuously removes air from the chest cavity until your lung is re-expanded and healed.  The chest tube has different functions as well.”

MAYO CLINIC

What Thoracic Surgery and what is a chest tube including why they maybe ordered!

Thoracotomy versus Thoracostomy:

Thoracotomy is surgery that makes an incision to access the chest. It’s often done to remove part or all of a lung in people with lung cancer. Thoracostomy is a procedure that places a tube in the space between your lungs and chest wall (pleural space).

Thoracostomy – the procedure to put a chest tube in places.

Thoracostomy inserts a thin plastic tube into the space between the lungs and the chest wall. The doctor may attach the tube to a suction device to remove excess fluid or air. Or, the doctor may use it to deliver medication into the space to decrease the likelihood that fluid will accumulate. This is called pleurodesis.

Your doctor may use thoracostomy to treat pneumothorax, also known as collapsed lung.

Your doctor will tell you how to prepare if this is not an emergency, including any changes to your medication schedule. Tell them if there’s a possibility you are pregnant and discuss any recent illnesses, medical conditions, allergies, and medications you’re taking, including herbal supplements and aspirin. They may tell you to stop taking aspirin, nonsteroidal anti-inflammatory drugs (NSAIDs) or blood thinners several days prior to your procedure. Leave jewelry at home and wear loose, comfortable clothing. You may most likely need to change into a gown for the procedure.

Know the medical difference in the ending of these 2 terminologies above:  ostomy or -stomy : surgically creating a hole (a new “mouth” or “stoma”, see List of -ostomies) -otomy or -tomy : surgical incision (see List of -otomies) -pexy : to fix or secure. -plasty : to modify or reshape (sometimes entails replacement with a prosthesis).

Chest Tube (s):

 

How a chest tube removes fluid, blood or air:

Fluid in the intrapleural space is affected by gravity and localizes in the lower portion of the lung cavity. Tubes placed in these positions drain blood and fluid. Frequently applying suction helps with this drainage.

  

Pneumothorax = Air in the lung through a hole

Hemothorax = Blood in the lung.

They are even used on animals:

   

Risk Factors getting a Chest Tube:

  • Pain during insertion and after placement of chest tube: Although pain during insertion and mild discomfort after placement are common, your healthcare provider can help minimize these effects with pain medicines.
  • Infection
  • Improper placement
  • Dislodged chest tube
  • Collapsed lung after removal of chest tube
  • Bleeding at the site of insertion