Rare Disease Disorder

Peutz-Jeghers syndrome (PJS) is a rare disorder in which growths called polyps form in the intestines. A person with PJS has a high risk of certain cancers.

Causes

It is unknown how many people are affected by SPJ. However, the National Institutes of Health estimates that it affects about 1 in 25,000 to 300,000 births.PJS is caused by a mutation in the gene called STK11 (previously known as LKB1). There are two ways PJS can occur:Familial PJS can be inherited from parents to offspring as an autosomal dominant trait. That means that if one of your parents has this type of PJS, you have a 50% chance of inheriting the gene and developing the disease.
Sporadic PJS is not inherited from parents to children. The gene mutation occurs by itself. Once a person has this genetic alteration, their children have a 50% chance of inheriting it.

Symptoms

  • Brown or blue-gray spots on the lips, gums, lining of the mouth, and skin

  • Drumstick fingers and toes

  • Cramps in the abdominal area

  • Dark freckles on and around the child's lips

  • Blood in the stool that can be seen with the naked eye (sometimes)

  • Throwing up

Surgery may be required to remove polyps that are causing long-term problems. Iron supplements help offset blood loss.People with this condition should be monitored by a health care provider and examined regularly for cancerous changes in the polyps.

Support groups

  • National Organization for Rare Disease Disorders (NORD) -- rarediseases.org/rare-diseases/peutz-jeghers-syndrome/

  • NIH Genetics and Rare Diseases Information Center -- rarediseases.info.nih.gov/diseases/7378/peutz-jeghers-syndrome

My help on this syndrome

Why do I add this?

My partner has this syndrome, and Just like I want to help him, I want to help other people as well! Just like it says in my TOS, I will donate 30% of monetary profits to organizations or supporting groups for people with rare disease disorders. My donations will be made per month to different groups and org. not just for Peutz Jegher people but other syndromes.

  • I will donate 30% of monetary profits the 1st day of every month.

  • The 50% of monetary profits will be used for medicine for my partner.

  • If you want to donate by yourself I will let supporting groups below.

  • I will post screen shorts of my donations the 1st of every month until April 2024.

Síndrome de Peutz Jegher en español

Where to see my progress and donations

You can see them in my Twitter and my Waitlist, I have them in my main Carrd.
You can ask for more info about this syndrome or the other org. I will support.
REMEMBER: you can always donate by yourself in this pages.