DIAGNOSIS


The following diagnosis are all considered Anorectal Malformations. You might have heard one of these diagnosis from your doctor:

Welcome

that's me

This website is for anybody looking for help concerning Anorectal Malformations.
Anorectal Malformations describe a variety of rare malformations with the commonality of a malformation of the anus. It is a rare condition and people who are confronted with Anorectal Malformations usually have never heard of it before. Even though Anorectal Malformations are considered a rare disease, we have a community of people affected by Anorectal Malformations and their families, which supports others facing the same problem.

I myself was born with this condition. As a child and young adult I spent a lot of time in hospitals for corrective surgeries. I still face difficulties on a daily basis, but I am able to live a normal life. If you were born with an anorectal malformation, or if you have a child diagnosed with this condition, or you are a caregiver, or friend of somebody affected, please feel free to ask me questions. I will answer to the best of my ability from the perspective of an affected person. I am not a medical professional and therefore I can’t give medical advice, but I might be able to help you find the information you need. I am a social worker and want to support others who are confronted with this condition and seek help. Please feel free to write a question in the field below.

I can answer quickly if you write in English or German, since I am fluent in both. If you don’t speak either of these languages, maybe you know somebody who can help you translate. But you can also write in your mother language, I will get your question and my answer translated. Your information will be treated confidentially and anonymously. Neither your question, nor the answer will be posted or distributed anywhere.

Please, select your preferred language first, if available in the menu bar above, then call for the request form by pressing:
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Useful Links

My recommendations for the USA:
Cincinnati Children's Hospital
Boston Children's Hospital
For children in Germany: SOMA e.V.

Knowing more:
about the desease itself (also see below)

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Explanation of Terms

Atresia is a congenital absence or closure of a normal body opening or tubular structure
Imperforate anus = Anorectal malformation = Anal atresia is a defect that is present from birth (congenital) in which the opening to the anus is missing or blocked. The anus is the opening to the rectum through which stools leave the body.
This defect may occur in several forms:
-- The rectum may end in a blind pouch that does not connect with the colon.
-- The rectum may have openings to the urethra, bladder, base of the penis or scrotum in boys, or vagina in girls.
-- There may be narrowing (stenosis) of the anus or no anus.
The problem is caused by abnormal development of the fetus. Many forms of imperforate anus occur with other birth defects. It occurs in about 1 out of 5,000 infants.(A.D.A.M. Medical Encyclopedia)
Rectal atresia = atresia recti is the congenital absence of luminal development leading to abdominal distention after birth. There is obvious absence of feces and staining and inability to pass a sound.
Fistula (pl. fistulas or fistulae) is an abnormal[1] connection or passageway between two epithelium-lined organs or vessels that normally do not connect. It is generally a disease condition, but a fistula may be surgically created for therapeutic reasons. (Wikipedia)
Hirschsprung's disease occurs when some of the nerve cells that are normally present in the intestine do not form properly while a baby is developing during pregnancy. In children with Hirschsprung's disease, a lack of nerve cells in part of the intestine interrupts the signal from the brain and prevents peristalsis in that segment of the intestine. Because stool cannot move forward normally, the intestine can become partially or completely obstructed (blocked), and begins to expand to a larger than normal size.

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