Meet my nephew, Anthony. This sweet little guy was born 4 weeks early on Friday, February 2nd. A few days later, he was diagnosed with an incredibly rare genetic condition called Miller-Dieker Lissencephaly syndrome (MDLS). There isn't a lot of information out there about the MDLS, and what is available is very disheartening.
MDLS impacts brain development and causes a range of neurological and developmental challenges. Most troubling though, is his time with us on this earth will be quite shorter than we'd like. We do not know how long we have with Anthony but do know it depends on the severity of his condition.
Anthony’s 17th chromosome was not copied correctly when his DNA was duplicating, and part of it was deleted. His brain wasn't able to develop correctly and he has "smooth brain" instead of the wrinkles we normally develop. Common symptoms of MDLS include severe mental and physical developmental delays, feeding and swallowing difficulties, seizures, and heart or kidney defects. Though these symptoms can be treated, there is no cure. Anthony will need special care for the rest of his short life.
Anthony’s mommy, daddy, big sister Evie, and big brother Max choose to focus on the positive and enjoy the time they have with their sweet little guy. He has already brought joy to so many! Whether we are together for months or years, every cuddle is a blessing! Anthony is a miracle baby. He is very strong and his resiliency has already surprised us all!
Anthony has a team at Seattle Children’s Hospital who will help him and his family throughout his life:
· Neurodevelopment: They are leading the team at Children’s, and help mom and dad know what to do for Anthony and when to do it.
· Neurologist: Thank God, Anthony has not had seizures yet, but at some point they will become a regular part of his life. For now, he has to check in every few months with his neurologist for monitoring. Eventually, medication may help control them.
· Cardiologist: Anthony has a bicuspid aortic valve (a form of heart disease in which two of the leaflets of the aortic valve fuse during development)
· Nutritionist/Dietitian: Anthony must use a feeding tube for nourishment. The Nutritionist helps mom and dad by providing instructions on how much to feed him through the tube and how often. He is gaining weight and they are able to increase his intake almost every week!
· Occupational Therapist: Every two weeks, therapist visits Anthony to work on strength and feeding. He is working on swallowing a little at a time to get him used to the suck, swallow, breathe cycle
· Home care nurse: Every two weeks and as needed, a nurse checks Anthony’s general health, and serves as a resource for any of the family’s questions or concerns.
And of course he has his regular pediatrician!
Anthony’s next big step is to get checked out and approved for a G-tube (a feeding tube that attaches to the abdomen and goes directly to the stomach, instead of through the nose and down the esophagus).
On behalf of Anthony's family, I humbly ask that you please consider helping his parents Renee (my little sis) and Miro by donating to Anthony’s fund toward his medical expenses. The hospital, specialist, and prescription bills are already coming in - and they are extensive. Your help will ease the financial burden and in turn, allow my sister and her amazing family to enjoy their time with Anthony even more.
- Jill Rutledge
- Tom Dube
- Deni Bouneva
- Mike & Rachael Novak
Organizer and beneficiary