I'm writing to inform anyone that is pregnant w/a hydropic baby to not give up on finding an answer for the cause. My wife and I lost a baby boy to fetal hydrops 2 years ago w/no answers. Doctors told us it wouldn't happen again, well it did. We just lost another baby boy at 30 weeks to the same thing. He had severe hydrops and died 5 minutes after delivery. But, this time we found a cause. Ethan (baby we just lost), had MPS VII (Sly syndrome/Mucopolysacharidoses). Both our babies lacked an enzyme that breaks down carbohydrates and sugars, therefore causing them to become hydropic (if interested click link: http://www.mefi.org/) . There are only 2 kids in the US living w/the disease and have a very short life expentancy. So, everytime we get pregnant, there is a 1/4 chance it will happen again. My wife and I are carriers of the same exact deficient gene (out of 30k genes). At this time there are less than 1/250,000 people affected w/the disease. The good news for us is, we can try again but we'd go Invitro w/pre-genetic diagnosis. Although, we still have a long way to go before trying again.
At this time, our main goal is to help to prevent recurring cases of hydrops in other people. If we would have known w/our first baby what to test for, this obviously wouldn't have happened again. When it did happen again, I vowed to never give up in finding an answer, which was a very difficult task. One thing I've learned, is to never give up and to always push doctors to find answers. You have to be an advocate for your child. We were at a point where the doctors put their hands up and said that our baby was going to die and that there are no answers, and you may never find the reason. Well, I just couldn't live w/that, so I got 2nd and 3rd opinions and told every medical professional possible about our problem which got the ball rolling. Our local doctors needed justified cause to test for UNCOMMON causes of hydrops and were hesitant to do the rare genetic testing we needed, which probably was due to their hands being tied by insurance companies. But once I got other doctors involved, the local doctors were pushed to test. Finally, we sent out amnionic fluid to Greenwood lab in SC, in which they do genetic testing for lysosomal storage diseases and enzyme deficiencies (an entire hydrops panel), the test cost only 350 dollars and most doctors didn't even know about the place. Well, it was all we needed they found an answer, and now we want prevent recurring cases to happen to anyone else. So, if you are carrying a child w/hydrops, don't allow the doctors to stop searching for answers after they've tested all the common things that cause hydrops. Have them go that extra step and test for as many Uncommon things they can. A good start would be the hydrops panel that was only 350 dollars. Who knows, maybe the disease we found isn't so uncommon afterall, being very few doctors send for the testing.