What is Zellweger Syndrome...

What is Zellweger Syndrome (ZS) and what it means for our family....Ok people put on your thinking caps and try to follow along..:)

Zellweger syndrome is the severe form of a peroxisome biogenesis disorder(there are two other disorders that fall under peroxisome biogenesis disorder, Zellweger being the most severe) Peroxisome biogenesis disorders are a group of conditions in which the process of making peroxisomes (specialized structures in the cell responsible for a variety of metabolic processes) does not work properly. The signs and symptoms of Zellweger syndrome typically appear during the newborn period and include poor muscle tone (hypotonia), poor feeding, seizures, cysts in the liver, affected liver functioning, and characteristic facial features. The prognosis for Zellweger syndrome is usually poor, with most children passing during the first year of life.

Peroxisomes are cell structures that break down toxic substances and synthesize lipids (fatty acids. oils, and waxes) that are necessary for cell function. Peroxisomes are required for normal brain development and function and the formation of myelin, the whitish substance that coats nerve fibers. Babies born with ZS do not have proper functioning peroxisomes and aren't able to break down fatty acids.

So I had a very hard time understanding what ZS was, it wasn't until after Corinne's passing I fully understood it. The diease is very rare, only 2-3 doctors/nurses that met Corinne had ever had a patient with ZS... Maybe the above paragraph made since to everyone else but it took me weeks to fully understand it.. So here is my layman's terms..


ZS is a disorder that effects peroxisomes in our body, that we must have for normal cell function and development (everything in our body is made of a cell).. i.e. most ZS babies do not have fully developed brains and do not have healthy functioning organs. Most of them have liver failure (which Corinne did not have) and mild heart issues(which Corinne had severe heart conditions). Most babies to not have a suck reflex so they are not able to bottle feed and have feeding tubes. Because of these peroxisome disorder their muscles do not form like they should and they have limp limbs (hypotonia). Most ZS babies have daily seizures with increase and severity in their final weeks/days of life. Corinne only had a few the first few weeks of life but had 20-30 a day in her last week. Most babies are not able to breath without assistance whether it is a nasal tube that provides a flow of oxygen or are put a ventilator that does all the breathing for them (Corinne was put on a vent at 10 days old) Most children pass from respiratory distress because they become to weak to breath on their own and their brain simply forgets to tell them to breath. Corinne's vent kept her alive those last 19 days of life, it was her life support.

Zellweger's is a genetic recessive disorder- meaning Ryan and I both carried the recessive gene and passed them both onto Corinne making it a dominate gene in her. We have a 1 in 4 chance of having a child with Zellweger's and our children born without Zellweger's (Evan) have a 66% chance of carrying the gene as well (ie.. Evan could have a child with Zellweger's).

What this means for Ryan, I, and our future children.. Ryan and I will not be able to have children naturally. IVF (in vetro vertilization) will be extremely expensive (way beyond the usual price tag of around $12,000 a round)because we will also need to have pre genetic testing/diagnosis (PGD) done on our embryos to "weed" out those that have ZS. The first baby born without ZS using IVF and PGD was in 2007. Our other options is to use a egg or sperm donor so biologically one of us would not be the babies genetic parent. Adoption is and has always been high on our list, but again very expensive and so emotionally taxing.

The grief we have from loosing Corinne far out ways the grief we have for not being able to have our own biological children the natural way but it does add a new loss to our life. I know people have a hard time understanding that. IVF and adoption are so common now a days that people just think " oh they can have another baby, thats easy" but its not. My heart feels for all families out there that have gone thru the IVF and adoption process they know its not "easy".

Many people ask why we didn't know Corinne had ZS while I was pregnant or is their any testing they could of done to find out. Basically the answer is NO.. If we knew that Ryan and I carried this gene they could of done an amnio around 20 weeks to determine if Corinne had it but ZS is rare and there were no reasons for us to think that we had it. Regular amnio test are done for very common genetic or trisomy disorders. But even if we did know there would of been nothing they could do for her, we would of just of had the added heartbreak of carrying a unborn baby knowing she would not live.



Here are some facts on ZS
-There is a less then 1% (.65%) chance you carry the Zellweger gene

-There is a .0078% chance you meet someone that carries the gene and have children

-80 babies a year die from Zellwegner's in the US; 2,6000 in the world; that equals 1 in 50,000 babies are born a year with ZS.

-if two parents have the recessive ZS gene (as Ryan and I do) they have a -25% chance of having a child born with the dominant gene ( ie a child born with ZS)- they have a 25% chance of not passing the recessive ZS gene on at all- and a 50% chance just one parent passes the recessive gene onto their child ( ie child does not have the dominant ZS gene but the recessive and could continue to pass it on to future generations)