Madeline Holt’s story is one of hope, love, and community.
“I am doing what I have to do. Would you just give up if your kid was born with a terminal illness? You can’t be okay with that.” ~ Meagan Holt (Mother of Maddie)
By: Lisa Buchanan, RN Washington State Madeline Holt’s story is one of hope, love, and community. Maddie was born in November of 2012 at 28 weeks gestation. She weighed 2lbs 3 ounces at birth and spent the first 3 months of her life in the NICU. Her care team was proud of her continued improvement and development, congratulating her parents on their miracle baby. Maddie, now weighing 5 pounds, was discharged from the hospital with formula, a prescription for omeprazole to treat her gastric reflux, and hope that despite her premature birth and mild hearing loss, she would continue to progress and thrive with the love of her parents, Meagan and Brandon Holt. Things weren’t so easy for Maddie and her family after her discharge from the hospital. As the Holts began adjusting to their life at home with Maddie they noticed that her hearing loss was more severe than was initially thought. Maddie didn’t respond with a startle stimulus when a door slammed or when their small dog barked near her. They also noticed that she didn’t visually track items in the middle of her visual field. Maddie was bottle fed and still needed to eat every few hours. Her suckling rhythm was unique, and not very efficient. Her mother had to finesse the way that she bottle fed Maddie, attempting to get enough nutrition into her. When Maddie started projectile vomiting after small feeds, her family and care team decided that she would have a gastric feeding tube placed to ensure adequate intake of nutrition and fluids. During these first few months at home, it seemed like a new symptom and/or diagnosis happened every couple of weeks, along with new consultations and many follow up appointments.
Maddie receives her care at Seattle Children’s Hospital. One of her care teams is the Craniofacial team. The team observed that Maddie had some key facial features that were similar to her fathers. In addition, one of the fontanels in her skull was still 6 inches across, a huge open head space. This led to a consultation with the Biochemical Genetics team during the summer of 2013. Biochemical genetics involves diagnosing and treating metabolic diseases. Blood was drawn from Maddie and sent it off to Johns Hopkins Hospital for DNA sequencing and evaluation. The results came back on October 30, 2013, 2 days before Maddie’s first birthday. Maddie has Zellweger Syndrome, a terminal genetic disease that destroys the white matter of the brain. It is the most severe form of a group of four related diseases called Peroxisome Biogenesis Disorders (PBD). 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. They are also required for normal eye, liver, kidney, and bone functions. Zellweger Spectrum Disorders result from dysfunctional lipid metabolism, including the overaccumulation of very long-chain fatty acids and phytanic acid, and defects of bile acids and plasmalogens--specialized lipids found in cell membranes and myelin sheaths of nerve fibers. Symptoms of these disorders include an enlarged liver; characteristic facial features such
Published on Jul 1, 2017
Published on Jul 1, 2017
This issue asks “What about the kids?” Cannabis Nurses Magazine is here to tell you about the kids. As controversial this topic is, it is n...