October 5 has new meaning for our family this year as we celebrate Pause for PBD, the annual awareness day of The Global Foundation for Peroxisomal Disorders.
At nearly five months old, our son, John, would be starting to hit the developmental milestones of rolling, babbling and giggling. But our family will never be able to experience the excitement of those milestones because our sweet newborn died on August 6.
When John was one week old, one of the NICU neonatologists walked into our room and gave us news we never even thought possible but would change our lives forever.
John was diagnosed with a rare, terminal genetic condition called Zellweger’s Syndrome. Zellweger’s is a peroxisomal disorder involving the creation and function of peroxisomes, which are needed for the body to function properly. Peroxisomes are part of a cell impacting every system in the body, including breaking down fatty acids and producing lipids that are vital to the nervous system, digestion and the brain.
Although we were (and frankly, still are) shocked with the diagnosis, the odds of it happening were unfathomable. Out of the four million children born each year in the U.S. only about 80 children are born with Zellweger’s and there are less than 500 children living worldwide with a peroxisome biogenesis disorder. To make matters even worse, we learned both my husband and I are recessive carriers, meaning we have a 1 in 4 chance of this happening with each pregnancy.
We very quickly went from being inexperienced new parents to new parents of a terminally ill, special needs child to grieving the loss of our first born. I was excited as each day passed to spend time with John and watch him get bigger but each day was also shadowed by my fear of what the future holds, knowing that each passing day was one day closer to when John would inevitably leave us.
Although we had been grieving for our child and our dreams for him since his diagnosis, the grief of him actually dying was nothing we could imagine. I guess through it all – his NICU journey, many tests, seizures, ER visits, even finding a formula his body could process – I held out hope that things would be okay.
And I still have hope. I hope for new advancements and eventually, a life-saving treatment for other kids with a peroxisome disorder. Raising awareness of Zellweger’s allows me to focus my hope and grief in a positive light. The more we talk about it, the more we can make progress on this devastating disease.
Please join my family and friends on October 5 and PAUSE for hundreds of families in 39 countries around the world impacted by peroxisomal disorders. Learn more and get involved by visiting www.thegfpd.org.
New mom Maria is making her own path on the grief journey after the death of her first born son, John. Born and raised in the Madison area, Maria met her Louisiana native husband, Joe, six years ago. Together, they have a feisty cat, Belmont, who likes ice cream and long walks in a pet stroller. Maria is passionate about reading, traveling and trying new restaurants and breweries (hello, IPAs). Holding a degree in Public Relations from UW-Whitewater, Maria manages social media and communications at a local insurance company.
Maria, I believe this will help other moms and bring awareness to moms that are pregnant. I’ve mentioned to a few dr’s and they have never heard of this, but they aren’t ob dr. I wish you and your family the best. God bless you
Is there a mom who has lost a baby to ZS who can help us now? My daughter’s son Calvin is not quite two months old and has dipped in oxygen three times in the last two hours necessitating mouth to mouth resuscitation. Is this the end or is this going to go on for days and weeks yet? Most medical staff are unfamiliar with ZS to guide. Please email us if you can offer information. We are in PA. Thank you, grandmother of sweet Calvin.