Welcome to the dual diagnosis of Hirschsprung's Disease and Down Syndrome page! This initiative will expand the awareness of the challenges, triumphs, and best practices specific to the DS+HD community. 

Children with Down syndrome have a 3-10% risk of also being affected with Hirschsprung disease. Down syndrome (DS) is the most frequent chromosomal condition associated with Hirschsprung's disease (HD), with an incidence of 7.32%. A large number of patients with DS continue to have persistent bowel dysfunction after surgical treatment of HD, though the results after surgical treatment of HD in patients with DS are reportedly similar to those in cases with HD alone.

The male to female ratio is significantly higher for short-segment HSCR (Hirschsprung Disease Constipation Related) disease in comparison with long-segment HSCR disease. Although most cases occur as an isolated trait (70%), 12% of patients have an associated chromosomal condition, and the majority of those have trisomy 21.

For children with Hirschsprung disease + Down syndrome, bowel movements can be difficult to pass even after surgery, and toilet training may also be a challenging process.

For more information on Down syndrome, refer to the following resources:

• About - Down Syndrome

• The Arc

• Best Buddies

• Down Syndrome Affiliates in Action

• Global Down Syndrome Foundation

• LuMind IDSC Down Syndrome Foundation

• National Down Syndrome Congress (NDSC)

• National Down Syndrome Society (NDSS)

• Special Olympics

• https://downsyndromepregnancy.org/

Meet ashley & milo

My name is Ashley Matthews, aka, “Milo’s mom”,

I’m so excited to be the new REACH Ambassador for this microsite dedicated to the dual diagnosis of Hirschsprung's Disease and Down syndrome. This initiative will expand the awareness of the challenges, triumphs, and best practices specific to the DS+HD community.  

My husband and I are the parents of a vivacious 5 year old boy who was diagnosed with Down syndrome at birth, and Hirschsprung's Disease at 10 days old. Milo has been a warrior from the word 'go' and we have learned so much from him in the five years that have gone by in a high speed blur! Our family has experienced a wide range of challenges and triumphs due to his dual diagnosis so I have teamed up with the amazing people of REACH to bring more awareness and resources to DS+HD families.

Do you have questions or topics that you would like to make sure we include on the site? Please contact us!

BOOK COMING SOON!

“My Little Brother is a Trooper,

The story of a child with a dual diagnosis: Down syndrome and Hirschsprung.

HAVE A QUESTION OR WANT TO CONNECT?

reachirschsprungs@gmail.com

Do you have questions or topics that you would like to make sure we include on the site?

Please contact us!