Category Archives: Rare Conditions

Living with Dextrocardia and Mitral Valve Regurgitation

Managing a Rare Heart Condition

Leanne Yates

Pictured above: Leanne Yates

Dextrocardia is a rare heart condition that affects less than 1% of the population. It’s a congenital disease, which means it’s present at birth due to problems during fetal development.

There are different types of Dextrocardia that affect the body in various ways. In some cases, the heart is on the right-hand side of the body and flipped over, which is sometimes referred to as ‘mirror image’. In more severe cases, other organs in the body are also affected and positioned incorrectly.

Although it’s rare, if it’s only the heart which is impacted by mirror image, it can still function normally.

The causes of Dextrocardia are currently unknown, however, if other problems are apparent like lung and chest defects, it can have an impact on the way the heart develops.

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Caring for a Child with Hunter Syndrome

Mucopolysaccharidosis (MPS) type II, otherwise known as Hunter Syndrome, is a rare condition that usually only affects males. According to the MPS Society, from 1992 to 2002, only 52 babies were born with the condition in the UK. It’s varied in its effects, which includes developmental delay and progressive physical problems.

Pictured above: Sally and her son D

Pictured above: Sally and her son D

Sally, 45, cares for her four-year-old son, D*, who has Hunter Syndrome. His symptoms mean that he requires regular treatment to minimise the effects of the disease, which is challenging for their family.

Sally regularly posts on her blog, which documents their journey to diagnosis and learning to live with MPS II.

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Reversed Heart, Situs Inversus and Dextrocardia

Is Your Heart In The Right Place?

heart and lungsThere are some genetic conditions that literally change the layout of your internal organs, including the heart. While rare, many of the people affected by these conditions don’t even know it.

One of these conditions is situs inversus, which causes the internal organs in the upper half of the body (chest and abdomen) to be on the opposite side, in a mirror image of the normal positioning. The liver and stomach, for example, switch position, while the left lung and left atrium of the heart are found on the right hand side. Read more

Marfan Syndrome: A Rare Connective Tissue Disorder

A Rare Inherited Disorder

Marfan logoMarfan syndrome is a fairly rare genetic disorder that effects the body’s connective tissues, whose purpose is to maintain the structure of the body and support internal organs. Although a rare condition itself, affecting about 1 in 3,000 people, it’s one of the most common connective tissue disorders. Marfan syndrome is hereditary, with about 75% of cases being passed on from one parent and a child has a 50% chance of receiving it. Some people however, do not inherit it: spontaneous mutation is when the individual’s cells mutate on their own.

What Is Marfan Syndrome?

Connective tissue is found through-out the body and is made up of a range of fibres which gives the tissues its elasticity. A protein called fibrillin is part of these elastic fibres, but Marfan syndrome creates an abnormal or deficient version which makes the fibres unusually stretchy and weak. It can make some bones grow abnormally long and be more brittle than usual, while stretch marks are and joint pain are also common occurrences. Read more

Diagnosis of rare kidney condition leads to awareness website

Diagnosis of Rare Genetic Kidney Condition

Natalie wearing her ID Band bracelet

Natalie wearing her ID Band bracelet

Natalie Gee, from Suffolk, has been living with Gitelman Syndrome, a rare genetic kidney disorder, since she was born. However it wasn’t diagnosed until 15 years ago and, as many people (medical professionals included) still know little about it, she made it her personal mission to raise awareness.

“Gitelman Syndrome is a life-threatening genetic disorder which affects your kidneys. A key component of the kidney doesn’t function correctly. This means that your body ends up losing salts like potassium and magnesium in your urine to dangerously low levels. This can make your heart not be able to beat correctly, or cause your muscles to not work properly, as well as other critical functions being affected.”

Living with a Rare Disease

“Living with Gitelman Syndrome can be a massive struggle. I personally, have to take up to 40 tablets a day and the medication can make me feel pretty ill at times. I suffer with painful muscle cramps and numbness due to the low levels of potassium and magnesium in my body, and often find myself quite short of breath, exhausted and dizzy.

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