Let’s talk about Hirschsprung: Shining a Light on a Rare Condition
It’s 7 days to #RareDiseaseDay! Today we bring awareness on Hirschsprung disease, a rare condition that affects the large intestines. Let’s dive into Tamuda’s (not real name) story and discover the hidden world of Hirschsprung, from its medical mysteries to the everyday challenges faced by those living with it. Let’s raise awareness, celebrate resilience, and fight for a brighter future for Tamuda and others like him. Buckle up, it’s gonna be an eye-opening journey!
What is Hirschsprung disease?
Hirschsprung disease is a birth defect affecting the large intestine, also known as the colon. It’s characterized by the absence of nerve cells in a specific section of the colon, leading to difficulty passing stool. This lack of nerve cells prevents the muscles in that section from working properly, causing constipation, bloating, and abdominal pain.
Hirschsprung disease is a congenital disability. Approximately 5,000 babies are born with the disease every year. The condition affects three to four times as many males as females.
Children with congenital heart defects and Down’s syndrome are most at risk. Hirschsprung disease affects 1 in 100 children with Down syndrome.
What are the types of Hirschsprung disease?
The two main types of Hirschsprung disease are:
- Short-segment: This type is the most common. It affects 80% of people (mostly males) with the disease. Nerve cells don’t form in the last segment of the large intestine.
- Long-segment: This type affects males and females equally. It occurs when nerve cells are missing from the large intestine.
What causes Hirschsprung disease?
During fetal development, nerve cells typically grow from the top of the small intestine through the large intestine to the anus. In children with Hirschsprung disease, these nerve cells stop growing in the large intestine before reaching the anus.
About 20% of the time, Hirschsprung disease runs in families. A change in a gene (genetic mutation) may be the cause. A parent with Hirschsprung has a higher risk of having a child with the disease. And if one child in a family has the condition, siblings are more likely to have it, too.
What are the symptoms of Hirschsprung disease?
Healthcare provider may suspect Hirschsprung disease if a newborn doesn’t pass a dark green stool called meconium within 24 to 48 hours after birth.
One sign of Hirschsprung disease is constipation. An infant or child may strain to poop, pass hard stools, or poop infrequently. Medications to ease constipation usually don’t help.
Other symptoms associated with Hirschsprung include:
- Abdominal pains and swelling.
- Brown or green vomit.
- Diarrhoea that’s often bloody.
- Lack of appetite (refusing to eat) and poor weight gain.
- Slow growth.
How is Hirschsprung disease diagnosed?
Up to 90% of children develop symptoms and receive a diagnosis during their first year of life. About 10% of the time, a diagnosis comes during childhood. Less than 1% of Hirschsprung disease diagnoses occur during the teen or young adult years.
Healthcare providers can perform a physical exam to check for a swollen abdomen or a rectal exam check for stool buildup (impaction).
Other tests that can also be carried out include:
- Biopsy: During a rectal biopsy, a small piece of rectal tissue is removed and is examined under a microscope to check for nerve cells. In infants, providers use a suction device to remove the tissue. This procedure isn’t painful and doesn’t require anesthesia.
- X-ray: Abdominal X-rays can show a bowel blockage.
- Anorectal manometry: An anorectal manomectry uses external pressure sensors and an internal balloon device. It gauges how well your child’s rectum and anus get rid of poop. Your child may be sedated during this test.
- Barium enema X-ray: While your child is under sedation, a provider inserts a catheter (thin tube) into your child’s anus. The catheter fills the intestine with barium, a safe, white liquid. A technician takes X-rays as the barium travels through the intestine. A barium enema X-ray is a type of lower gastrointestinal. It shows bowel obstructions and narrowed intestines.
How is Hirschsprung disease managed or treated?
There is no treatment for Hirschsprung disease. Children with Hirschsprung disease need a procedure known as pull-through surgery. Surgery typically occurs soon after diagnosis. During this procedure, a surgeon removes the nonfunctioning part of the large intestine and connects the remaining healthy part of the large intestine to the anus.
What are the complications of Hirschsprung disease?
Up to 40% of children with Hirschsprung disease develop enterocolitis. This condition is inflammation of the small and large intestines. Some children have mild inflammation. Others experience severe symptoms that can be life-threatening. Children with severe enterocolitis have Hirschsprung disease symptoms along with fever and explosive diarrhoea.
Severe or untreated Hirschsprung disease may lead to these potentially life-threatening problems:
- Large bowel obstruction: A large bowel obstruction stops food from passing through the intestine. The obstruction also cuts off blood flow, causing part of the intestine to die. As pressure builds up, bacteria leak from the intestine into the bloodstream. A deadly condition called sepsis may occur.
- Toxic megacolon: This rare, life-threatening condition causes the colon to widen and expand. Gas and poop can’t move through the swollen intestine. If they build up, the intestine may rupture.
Conclusion
Hirschsprung disease may be rare, but its impact is real. Tamuda’s story is just one example of those living with this condition. By raising awareness, we can empower individuals like Tamuda and their families, advocate for better treatment options, and ultimately, work towards a cure.