Well hey there everyone! I am CCHS, or more commonly known as Ondine's Curse! Here's a little bit more about me that I'm sure you would love to know!

My Nick Names!:

1) Ondine's Curse
2) CCHS or Congenital Central Hypoventilation Syndrome
3) Primary Alveolar Hypoventilation

Why I Exist:

I was birthed like any other gene disorder, from a mutation! My parents were located in the PHOX2b gene. Man, home sweet home.

Can You See me?

Many wonder if I can be seen within the baby before its been born. The answer is No, unless you do a full DNA test of the baby prior to birth.

Symptoms:

Fortunately for the baby, I'm really not that big of a deal, I only prevent the child from breathing involuntarily! Symptoms of CCHS become apparent after birth. Affected infants hypoventilate when falling asleep and show a bluish appearance of the skin or lips (cyanosis). Cyanosis is caused by lack of oxygen in the blood.  In addition to the breathing problem, people with this disorder may have difficulty regulating their heart rate and blood pressure. They may have abnormalities in the nerves that control the digestive tract (Hirschsprung disease), resulting in severe constipation, intestinal blockage, and enlargement of the colon. They are also at increased risk of developing certain tumors of the nervous system. Some affected individuals develop learning difficulties or other neurological problems, which may be worsened by oxygen deprivation if treatment to support their breathing is not completely effective, but who needs sleep anyways?!? Being awake is much more efficient, and will keep you from dying :D!

Who be Getting it?:

Honestly, I am extremely rare! (That is what makes me so special!) Only about 200 people world wide are alive today with Ondine's Curse. Anyone can really be subject to the disease because it can also occur after sever trauma! (Hint: I am very very very recessive and extremely unlikely!)

Medical Needs:

Well... Ummm... I stop you from breathing. Ya, your gunna need some help! Doctor! Doctor! Grab a ventilator please! Oh and don't forget to look out for the negative side effects of less oxygen to your brain and body! People with this disorder take shallow breaths, especially during sleep, resulting in a shortage of oxygen and a buildup of carbon dioxide in the blood. Ordinarily, the part of the nervous system that controls involuntary body processes would react to such an imbalance by forcing the individual to breathe deeply or wake up. This reaction does not happen in people with CCHS, and they must be supported with a machine to help them breathe, or a device that stimulates a normal breathing pattern (diaphragm pacemaker). As the child gets older, they will see issues with slight retardation, skin color, and other such low oxygen related things! The scary part is that if you have me, then you  have progressive hypercapnia and hypoxemia when asleep!

Treatments:

Nope, L2 (learn to) Breathe?

Am I Preventable?

Hecks naw, I was just a random mutation!

Pass it down:

It is possible for people who have the disorder to live long enough to reproduce. However, it is unlikely that the gene would pass on to the child but it is possible!

Cures:

Due to the extreme rarity of CCHS, there is no real cure trying to be found. The only thing being done is making ventilators more  accessible and implanting diaphragm pacemakers alongside with modern medicine to increase the lifespan of victims of Ondine's Curse!

                                                                Works Cited

 

"Congenital Central Hypoventilation Syndrome." CCHS. N.p., n.d. Web. 05 Dec. 2012.

 

"Congenital Central Hypoventilation Syndrome ." Congenital Central Hypoventilation Syndrome.

N.p., n.d. Web. 05 Dec. 2012.

 

Smith, S.E., and O. Wallace. WiseGeek. Conjecture, n.d. Web. 05 Dec. 2012.

 

Weese-Mayer, Debra E. "Summary." Congenital Central Hypoventilation Syndrome. U.S. National Library of Medicine, 28 Jan. 2004. Web. 05 Dec. 2012.

The picture used for the profile has no copyright!

Other Pictures from top to bottom:

- http://scoop.mthai.com/hot/324.html
- http://www.nytimes.com/2008/05/13/health/13real.html?_r=0
- http://viraltoob.com/blog/2011/09/29/girl-with-ondine%E2%80%99s-curse-will-die-if-she-sleeps/
- http://www.almightydad.com/parenting/pass-it-on