Congenital hernia diaphragmatica

CHD is short for Congenital hernia diaphragmatica. CHD is a rare congenital disease in which the baby has a rupture (hernia) in its diaphragm (diaphragm). As a result, the diaphragm is not neatly closed but has a hole in it. The main problem is that the lungs do not develop properly.

View a short video On how that comes about.

Our sons David and Gideon were both born with CHD. But where things eventually worked out well for Gideon, David sadly passed away two weeks after birth.

CHD is a rare disease where its effects can vary greatly from one child to another. Where one child due to CHD ends up having only 1 developed lung could grow old with it without too many symptoms. But another with two developed lungs whose pulmonary alveoli do not seem to eventually work properly could continue to have health problems for a lifetime, or even die from it.

Research

It is important that more research is done on it. The medical profession knows a lot, but a lot of it does not yet know either.

Organic patch

Patients' association PlatformCHD started a project in 2015 to research a biodegradable patch to close the hole in the diaphragm that is more natural to the body than the plastic mats currently used and should ensure fewer health problems later in life. Meanwhile, a lot has been achieved through grants and sponsorships. Read here the state of play in 2019

What causes CHD

This is still largely uncharted territory. When we were expecting for the first time and found out that our little one would have CHD (2011), studies were also done to see if there was anything to be found about heredity because we had another family with a child born with CHD. Nothing came out of that at the time.

But when we were expecting the second time and were again diagnosed with CHD (2012), nothing came out of the subsequent tests either that would indicate what could have caused it and whether it was hereditary.

Many years and studies later, the medical community has recently (2019) made a major breakthrough in "reading" DNA where they can now map almost everything. And while they don't yet know exactly what it says, they can now do more targeted searches and comparisons. Hopefully, in the not-too-distant future, they will be able to tell more about rare diseases like CHD.