Corinne Sophia was born on July 12th, 2011 at 1:27pm into the loving arms of her parents Emily and Ryan Moll at Mercy in Rogers, AR. Corinne immediately had medical complications and was helicoptered by the Angel One team to Arkansas Children’s Hospital in Little Rock. After several days of medical testing and amazing medical care Corinne was diagnosed with Zellweger’s Syndrome, a rare metabolic genetic disorder that affects normal brain development and leads to respiratory distress and in Corinne’s case heart failure. Corinne was back transported, again by the Angel One helicopter team, to Washington Regional Hospital in Fayetteville, AR so she could be loved by all of her friends, family, and big brother Evan. Corinne passed on August 10, 2011 at 9:16pm in the arms of her Parents.

Thank you for reading our blog.
Best way to read Corinne's story from the beginning is to go to the left and drop down July and start with "Weekend before Corinne's arrival"

Tuesday, December 13, 2011

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)


  1. Emily & Ryan - Thank you so much for sharing Corinne's story and your journey. I also lost my son Chase in 2011 to Zellweger Syndrome. He was with us 6 months and 4 days. As I read through your blog, I completely understood the joy of welcoming your daughter, the devastation of her diagnosis, the appreciation that you were chosen to be her parents, and the total and utter grief of having to say goodbye. There aren't many of us out there that must walk down that path, but we are there and you are not alone. My prayers, thoughts and love to your family. If you would ever like to talk, you can find me on Facebook. I also documented much of Chase's story there.

    Bethany Barno
    Louisville, KY

  2. Emily-

    My daughter's name was Cecily. She lived 4 months and 15 days with ZS. I have wanted to document Cecily's story for awhile now and have been thinking of writing a book about her and other babies that have passed due to Zellweger Syndrome and other rare disorders. I am still in the beginning stages and am just considering this, as it will be a difficult undertaking. I would like to tell the story of these children and the families who love them. If you're interested in including Corinne Sophia in this book, please reply here.

    Thank you, and God Bless,

    Brook Singletary
    Little Rock, AR

  3. Sorry to hear of your loss. My husband carries the gene and all three of my bio boys also have the gene now. One is disabled but I don't think it is ZS since I don't think I have the gene and he is 20 now although we don't have an accurate dx. I also have an adopted daughter and adoption is a wonderful thing. I do worry about my boys, however, since they carry gene.