Hunter Macdonald Syndrome

Hey everyone, Sorry its been a while... This is something you may find very interesting

My best friend has a rare disease that causes a few abnormalities. This disease is called Hunter Macdonald Epiphyseal dysplasia, also known as The Hunter Macdonald Syndrome. This has quite a few symptoms listed below

Unusual face
Multiple epiphyseal dysplasia
Hearing loss
Congenital heart anomaly
Short stature
Premature hair loss
Bitemporal grooves
Flared nostrils
Underdeveloped midface
Short upper lip groove
Tall forehead
Droopy eyelids
Thin upper lip
Long neck
Pigeon chest
Hyperextensible joints
Partially dislocated thumbs
Partially dislocated elbows
Metatarsus adductus
Skewed fingers
Delayed bone age
Abnormal bone development
Mitral valve prolapse
Bicuspid aortic valve
Mild mitral regurgitation
Mild aortic regurgitation
Narrowed pulmonary valves
Impaired hearing
Disproportionate short stature
Congenital camptodactyly
Scoliosis
Epiphyseal dysplasia
Early osteoarthritis
Malformed feet
Bitemporal narrowing
Short eye slits
Reduced hearing acuity
Transient cranial nerve palsies
Congenital heart defects
Meningioma
Increased risk of brain tumor

My friend has quite a few of these which are below in red.

Unusual face
Multiple epiphyseal dysplasia
Hearing loss
Congenital heart anomaly
Short stature
Premature hair loss
Bitemporal grooves
Flared nostrils
Underdeveloped midface
Short upper lip groove
Tall forehead
Droopy eyelids
Thin upper lip
Long neck
Pigeon chest
Hyperextensible joints
Partially dislocated thumbs
Partially dislocated elbows
Metatarsus adductus
Skewed fingers
Delayed bone age
Abnormal bone development
Mitral valve prolapse
Bicuspid aortic valve
Mild mitral regurgitation
Mild aortic regurgitation
Narrowed pulmonary valves
Impaired hearing
Disproportionate short stature
Congenital camptodactyly
Scoliosis
Epiphyseal dysplasia
Early osteoarthritis
Malformed feet
Bitemporal narrowing
Short eye slits
Reduced hearing acuity
Transient cranial nerve palsies
Congenital heart defects
Meningioma
Increased risk of brain tumor

She is the youngest known person with this disease. Her mother and Uncle both have this. Her family is the only known in the USA with this disease. There is however a father and son in Canada who have this as well. Within the past 2 years they have gotten alot of information on this disorder. My friend is at the time 18 years old. Though there is mention of her on a website. She was 7 when the information was formed. She was diagnosed at that time as well. Though many may think that this is a hard life to live, which of course it is, She lives a happy life and does just about anything anyone else can do. There are however a few things that are harder for her to accomplish though she does not let that get her down. She is and will always be the strongest person I know.

Thanks to her approval I can let more people in this world know about this disorder and how it Affects her life. Though She does seem like a typical hyperactive teen like me, dont let that fool you, because this girl can change your life!!!

Living life with Eczema

I have a skin allergy known as Eczema. Most people are very uneducated about this condition. Some people think it is some kind of illness or disease. These people believe you can "catch" eczema. This all is not true.

I am sure those of who who suffer from Eczema agree with this.

Eczema is a very common allergy to the oils in you skin. It causes a rash to spead on the body. On infants the most common agreas are the face, forearms, legs and genital area's. On children, teens and Adults, it is common to find it on the face, arms, legs, stomach area, and genitals. About half those who are diagnosed at birth with grow out of this allergy by the age of 3. the other half can suffer from this for longer, or for their whole life.

The rash can be different for each person, in my case it is dry itchy skin that looks rather scaley. I have one of the worse cases out there. When I was a baby my skin would crack and bleed, I would get infections from it and have unbarible diaper rashes.

Now my skin still opens and bleeds periodically, but that it mainly from the scratching. I use 2 different topical ointments to help keep my skin soft and more "normal" looking. It helps to rid of the eczema but not permanently.

The reason for me posting this discussion is to show people and tell them that ECZEMA IS NOT CONTAGIOUS. You cannot catch it, it isnt a deadly disease and it isnt that big of a deal. Its simply an allergy to ones own skin.

Thank you. Again this is Stella.

Introduction

Hello, I am 17_with_Problems, but you can call me Stella. I am a 17 year old cacasian female, who suffers from the everyday issues most teens have. A few of the problems I will be discussing are as follow.

Allergies/Birthmarks/Birth defects that cause others to see you differently

Sexual Activity at a young age

Rumors

Bullies

Cliques

Fitting in

And much more to come.

I am proud to say I have suffered issues from all of the above, and have been able to over come most of them with ease. It isnt always easy but things get better with time.

Yet again this is Stella! Please feel free to ask me questions anytime, or If you would like me to discuss something that you are having problems with yourself let me know!

For those who need help and would like me to post a discussion about your issues, please e-mail me at

por_siempre_afi@yahoo.com

Please be sure to indicate if you would like you name placed in the discussion or if you would rather stay anonomous.

Thank you.