Category Archives: Awareness

Osteogenesis Imperfecta Awareness

Hi everyone, Today’s post is the awareness of Osteogenesis Imperfecta OI for short but is also known by the term Brittle Bone Disease.

My Story

OI is very close to my heart as my eldest daughter was born with this condition. She had her first break at ten months old, I was quite naïve as I didn’t know that much about it. I was alone and isolated and very vulnerable as the person I would go to was on holiday at the time.

When I took her to the hospital and found out her leg was broken it was the worst thing in the world. It wasn’t a normal straight forward break, they told me it was a spiral break and for her to get that kind of break someone must of done this to her, so I was investigated and made to feel as if I was guilty, as if I had hurt my precious baby. Every time my daughter saw me her face would light up and she always wanted me to pick her up and give her a cuddle, but they still wanted her to stay the night in hospital while these enquiries were going on.

When my aunt found out what I was being accused of, she was not happy and contacted the hospital having a go at them for even thinking I could harm her. I know that there are some monsters out there that would, which literally breaks my heart, but I wouldn’t dream of hurting her, she as been my whole world since the day she was born. I was devastated and traumatised by what had happened that day, which made it a very long and exhausting night.

The next day they did some routine tests and found, that she had a blue tinge to the whites of her eyes, so they said that it could be a sign of Osteogenesis Imperfecta, but she needs to have some other tests to determine whether she had it or not, once they had done all the relevant tests, I was then told that she had Osteogenesis Imperfecta and the next step  for her is to be seen by a geneticist, and from now on it will be on her records, so you will never have to go through all this each time she has a break. This is our story of how my daughter eventually got her diagnosis.

What is Osteogenesis Imperfecta?

Osteogenesis Imperfecta (OI) is a genetic disorder that affects the bones. This condition causes the bones to be weaker and more fragile. The bones can break with little or no trauma. OI is typically present at birth, and children only develop it if there is a family history of it. OI ranges in severity from mild to severe. Most cases are mild, resulting in very little bone fractures. However, the severe forms can cause:

  • Hearing loss.
  • Heart failure
  • Permanent deformities
  • Spinal cord problems

What Causes Osteogenesis Imperfecta?

Osteogenesis Imperfecta is caused by a defect, or flaw, which is in the gene that produces type 1 collagen, its a protein which is used to create bone. The defective gene is usually inherited, but in some cases, a genetic mutation or change can cause it.

What Are The Signs and Symptoms of OI?

Here are some signs and symptoms of having OI.

  • Fractures can happen with the slightest of force, and varies from person to person.
  • The whites of their eyes may appear to be blue or grey.
  • Bones might have an altered shape, for instance, they may be shortened or bowed.
  • Children with OI tend to be shorter than the average child.
  • Some degree of joint or bone pain that may be present.
  • In children it can cause them to tire more easily.
  • Joints can be very flexible or hypermobile.
  • Hearing problems usually begin to affect people after puberty.
  • Problems with formation of teeth (Dentinogenesis Imperfecta, DI for short).

Facts About OI

Eleven facts about OI to increase your Awareness!

  • OI is a connective tissue disorder that affects between 20,000 and 50,000 Americans. While in the UK there is around 5,000 individuals that suffer with it.
  • The most significant symptom of OI is fragile bones. For this reason, OI is sometimes referred to as a ‘brittle bones disease.’
  • OI is not contagious. It is a genetic disorder that can be inherited or the result of a spontaneous mutation.
  • The medical community currently recognizes 8 different types of OI that range from nearly undetectable to fatal.
  • Lack of proper diagnosis sometimes causes parents to be unjustly accused of child abuse.
  • Although there is no cure for OI, a person with this diagnosis can live a healthy, happy, and active lifestyle. Good nutrition and exercise are useful tools in managing the symptoms of OI.
  • Atticus Shaffer, from the hit TV show The Middle, has type one OI
  • Some people with OI and their families like to use a snowflake to symbolize how each person with OI is different and fragile. Yet, others with OI despise the notion of being compared to a delicate snowflake.
  • As we learn more about OI, it becomes more apparent that this condition manifests differently in every person who has it. Perhaps this is the most important reason to spread awareness.
  • The disease is often referred to as Osteogenesis Imperfecta (OI), which means “imperfectly formed bone.”
  • There are eight different types of OI. Type 1 being the most mild case and Type 2 being a severe case.

Thank you for taking the time to read this post. See you all next week!

Endometriosis Awareness Month

Hi everyone, this month is Endometriosis Awareness Month. I’m doing a post about it, as it is something close to my own heart. My eldest daughter suffers from this, and I must admit it is unbearable to see her go through that amount of pain every month, sometimes it just seemed to go on forever. This post is to raise awareness for all the females who suffer with this debilitating condition. I will tell you all about endometriosis and what it does to a women’s body, the difficulties it causes and so much more.

What Is Endometriosis?

Endometriosis is a disorder where tissue similar to the lining of the womb starts to grow outside of your uterine cavity. The lining of your uterus is called the endometrium.

Endometriosis can affect women of all ages. This is a long term condition that makes a significant impact on your life. There is treatment available, but no treatment will cure you, so eventually you will be back to where you started from.

Endometrial tissue grows on your ovaries, bowel, and tissue that lines your pelvis. It is rare for endometrial tissue to spread beyond the pelvic region, but it’s not impossible. The Endometrial tissue which grows outside of the uterus is also known as endometrial implant. During your menstrual cycle your hormones change, and affects the endometrial tissue, where it becomes inflamed and very painful. It means the tissue, will grow, thicken and then lastly breaks down. The broken down tissue will eventually have no-where to go and then gets trapped in your pelvis

When the tissue is trapped in your pelvic region it can cause these types of problem:

  • Irritation.
  • Scar Formation.
  • Adhesions, (where your tissue binds your pelvic organs together).
  • Severe pain during periods.
  • Fertility problems.

Endometriosis Stages

There are four stages to endometriosis.

  • Minimal
  • Mild
  • Moderate
  • Severe

There are different factors to determine on what stage of the disorder you are at. You have to factor in the location, number, size, and depth of the endometrial implants.

Stage 1: Minimal

The minimal stage of endometriosis as small lesions or wounds with shallow endometrial implants on your ovaries. It might also include inflammation in and around the pelvic region.

Stage 2: Mild

The mild stage involves light lesions with shallow implants on an ovary and pelvic lining.

Stage 3: Moderate

The moderate stage involves having more lesions, and deep implants on your ovaries, and the lining of your pelvic region.

Stage 4: Severe

The severe stage of endometriosis, is by far the worst stage to have, which include deep implants on your pelvic lining and ovaries. There may also be lesions that occur on your fallopian tubes and bowels.

Endometriosis Symptoms

The symptoms surrounding endometriosis vary from person to person. The severity of the pain does not indicate the stage of the condition.  One of the most common symptom of endometriosis is the pain. You may find you have the following symptoms:

  • Painful Periods that stops you from doing your daily activities.
  • Lower abdomen pain before and during menstruation.
  • Cramps one or two weeks around menstruation.
  • Infertility.
  • Pain following sexual intercourse.
  • Heavy menstrual bleed or bleeding in between periods.
  • Any time during menstrual cycle having lower back pain.
  • Discomfort with bowel movement.

There will be some that do not show any of these symptoms, so please go see your doctor to be referred on to see a gynaecologist, so that you get a proper diagnosis.

Endometriosis Treatment

It is understandable that no matter who you are, would like a quick relief from the pain you’re in. This condition can disrupt your life completely and it will only get worse the longer you leave it untreated. The one down side to this condition is that there is no cure to endometriosis, but there are different forms of treatment available that they can offer you some form of relief.

There are medical and surgical options available to reduce some of your symptoms, but that is usually a last resort option, as your doctor will try you on other treatment first.

Here are some treatment options:

Have a discussion with your gynaecologist and then decide which option best suits you.

16 Celebrities Who Suffers With Endometriosis

Even celebrities don’t escape the perils of this debilitating condition.

  • Halsey
  • Whoopi Goldberg
  • Daisy Ridley
  • Padma Lakshmi
  • Susan Sarandon
  • Jillian Michaels
  • Cyndi Lauper
  • Tia Mowry
  • Dolly Parton
  • Lena Dunham
  • Jaime King
  • Julianne Hough
  • Amy Schumer
  • Alexa Chung
  • Mica Keeble (Please read her story)

Thank you for taking the time in reading this weeks post. See you all next week!

Nystagmus Awareness Day

Hello everyone. Todays post is going to be about raising awareness on nystagmus. This is something that is very close to my own heart as I suffer with nystagmus. It makes it very hard to concentrate on anything, I love to read, but I can’t do that for very long as it gets very blurry. The more I try to concentrate the worse it gets and the pain it causes my eyes. It is very frustrating not being able to see things properly. My eyes oscillate from side to side, going fast enough to make my vision blurry.

Facts About Nystagmus

Nystagmus is a condition that affects your vision, in which causes the eyes to make repetitive, uncontrolled movements. It often results in reduced vision and depth perception, which can also affect balance and coordination.

Involuntary eye movements can occur from side to side, up and down, and rotate in a circular pattern. As a result, both eyes are unable to steadily view objects. People whom suffer with nystagmus might nod and hold their heads in unusual positions to compensate for their condition.

Usually, nystagmus can be an underlying symptom of another eye or medical problem. Stress and fatigue can make nystagmus a whole lot worse. Although, the exact cause is often unknown.

Here is the different forms of nystagmus are as follows:

  • Congenital Nystagmus: You show signs of this from birth. This is where your eyes start to move together as they oscillate (swing back and forth like a pendulum).
  • Infantile Nystagmus: Between the ages of 2 to 3 months of age you would often start to develop infantile nystagmus. The eyes would move from side to side in a horizontal way. It can also be associated with other conditions, like undeveloped optic nerves, albinism, congenital cataract, and congenital absence of the iris ( the colored part of the eye).
  • Spasmus Nutans Nystagmus: This usually happens between the ages of 6 months and 3 years and will improve on its own, usually between the ages of 2 and 8 years of age. You tend to find that children with this kind of nystagmus often tilt or nod their heads, and their eyes will move in any direction. This type does not usually need any treatment.
  • Acquired Nystagmus: You later develop this in childhood or adulthood. The cause of this type of nystagmus is often unknown, but it could be due to the central nervous system and metabolic disorder or drug and alcohol toxicity.
  • Manifest Nystagmus: This is present at all times, latent nystagmus only occurs when one eye is covered
  • Manifest-Latent Nystagmus: is always present, but made worse when one eye is covered over

What Causes Nystagmus?

The most common cause of nystagmus is by any type of neurological problem, to which is present at birth or can develop in early childhood. Acquired nystagmus occurs later in life, can be the symptom of another condition or disease, like a stroke, multiple sclerosis or trauma.

Other Causes of Nystagmus Include:

  • Albinism.
  • Central Nervous System Disease.
  • Congenital Cataracts.
  • Inflammation of the Inner Ear.
  • Lack of development of normal Eye Movement Control early in life.
  • Medication such as anti-epilepsy drugs
  • Very high refractive error. For example, near-sightedness (Myopia) or Astigmatism

Can Nystagmus be Treated?

There are several things that can be done to help relieve it, sometimes it works and other times it doesn’t.

  • Surgery reduces the null positions, lessening head tilting and improving cosmetic appearance.
  • Drugs such as Botox or Baclofen can reduce some nystagmic movements, the results are usually temporary.
  • Eyeglasses and Contact Lenses can help with nystagmus see better, but have found that contact lenses to be the superior alternative for many with nystagmus.

See you all next week

Ataxia Awareness Day

Internatonal Ataxia Awareness Day

A Date To Remember:

Today is International Ataxia Awareness Day. This is something very close to my own heart as I suffer from a form of it called Cerebellar Ataxia. I was born with this condition, even though at the time I was diagnosed as having epilepsy, which puzzled doctors immensely as I never had any fits. I finally was told in my thirties after seeing countless other neurologists, that I did come upon this specialist that he had only seen one other case with my symptoms, it was then that he wanted to do numerous test on me. It was then that I was told I had cerebellar ataxia.

The Ataxia I have is degenerative. My symptoms will eventually get worse, but I always tell people that I don’t want pity as there are others that have it worse. There are several different types of ataxia and each one as there own difficulties, this awareness is for everyone that suffers with it. For me, my ataxia can last for a few hours to sometimes days, it’s very draining and takes all my energy to fight it. With Cerebellar Ataxia, I have repetitive eye movement called Nystagmus, sometimes it gets difficult to see as my eyesight will become blurry.

 

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What Are The Types:

The word ataxia actually means “without coordination.” Ataxia is a movement disorder that is caused by problems in the brain. With ataxia, you have trouble moving parts of your body, as it doesn’t work the way you would like it too. Also with ataxia, the muscles in your arms and legs might move when you don’t want them to.

Ataxia isn’t a disorder or a disease itself, it is a sign of other underlying disorders or other diseases. Doctors have discovered that there is anywhere from 50 up to 100 different types of ataxias. They are grouped into specific categories that are based on what causes them or based on which part of the body that they affect. Ataxia may be temporary or progressive and permanent. Spinocerebellar ataxia is one type that is permanent ataxia.

Interntional Ataxia Awarenea Day

Types of Ataxia by Affected Area:

Ataxia is caused by damage to different areas of the central nervous system. Doctors categorize it by the specific part of the brain most affected, including:

  • Cerebellar (brain)
  • Sensory (nerves)
  • Vestibular (ears)

Cerebellar Ataxia:

The cerebellum is part of your brain that takes charge of your balance and coordination. When part of your cerebellum starts to erode or wear away, you can develop cerebellar ataxia. Sometimes it can also affect your spinal cord.

Symptoms of cerebellar ataxia include:

  • Behavior or personality changes.
  • Changes in your voice.
  • Dizziness.
  • Fatigue.
  • Headaches.
  • Low muscle tone.
  • Muscle tremors.
  • Slurred speech.
  • Trouble walking.
  • Wide gait.

Sensory Ataxia:

Sensory ataxia is the result of damage you have to the nerves in your spinal cord or your peripheral nervous system. That is the part of your nervous system that is outside of the brain and spinal cord.

When you have sensory ataxia it affects the sensations in your feet and legs, that is caused by nerve damage, it doesn’t send the relevant information back up to the brain, telling you where your body is in relation to the ground. The alternative word for it is called Proprioceptive ataxia.

Symptoms of Sensory Ataxia Include:

  • Difficulty touching your finger to your nose with closed eyes.
  • Inability to sense vibrations.
  • Trouble walking in the dim light.
  • Walking with a “heavy step,” or stomping when you walk.

Vestibular Ataxia:

Vestibular Ataxia affects the vestibular system. This system is made up of the inner part of your ear and ear canals, which contain fluid. They can sense the movements of your head and help with your balance and spatial orientation.

When the nerves in your vestibular system wear away, you can have the following problems:

Symptoms of Vestibular Ataxia Include:

  • Blurred vision and other eye issues.
  • Nausea and Vomiting.
  • Problems standing and sitting.
  • Staggering when you walk.
  • Trouble walking in a straight line.
  • Vertigo, or dizziness.

I want to say thank you for taking the time to read this.