Help Baby Liam Fight Against GNAI1 Neurodevelopment Disorder

I wanted to create this gofundme on behalf of a very special little boy I know. I asked his parents to provide the details. This is their story...

Liam Patrick Slattery was born on May 20, 2024. When deciding on a name, Liam was selected because Dad wanted an all Irish name just like his parents named him. Liam means strong willed warrior/ protector. Little did we know how strong a warrior he was going to be. He came into this world healthy and excited to meet his two big sisters. As we were leaving the hospital to take Liam home, his nurse stopped by one more time to say goodbye and noticed his lips were blue. She called pediatrics and they ordered a cardio echo. When the tech came in to perform the echo, Liam stopped breathing. Mom ran out to the hallway screaming for help and the tech hit the code blue button on the wall. When Mom saw all the doctors storm the room she fell to her knees and broke into tears in fear for her son's life. That nurse was Liam's angel. Had she not stopped by one last time Liam would have stopped breathing in the car on the way home. This sent Liam to the NICU (Neonatal Intensive Care Unit) where it was confirmed he was having apneic seizures. At that point in time he was given a strong anti seizure medication that caused heavy sedation. Due to the sedation, he began to take shallow breaths and needed respiratory support. Over the next three weeks our little boy went through numerous tests and imaging. Eventually he was weened off breathing support and we focused on feeding and breathing on his own. After three weeks, the doctors could not find a cause for the apneic seizures after birth. They told us it was most likely trauma related to delivery and sent us home.

After three months of no issues, we were on a family vacation when disaster struck. On August 26th, we were in Charleston, SC and Liam stopped breathing again. We took videos and sent it to our care team back home in Michigan. By the time they were able to review what we sent, he had stopped breathing over 10 times. We immediately rushed to the children's hospital where he had another 15 confirmed apneic seizures. Our entire family spent three days in the PICU (Pediatric Intensive Care Unit). It was at this time that Liam was diagnosed with epilepsy. Additional labs and imaging were conducted with no conclusive evidence as to what was causing his seizures. We were released from the hospital with twice daily anti seizure medication (ASM) and were provided emergency rescue medications in case of a seizure onset on the 13 hour drive home to Michigan. The neurologist informed us that when it comes to epilepsy every case is different and the ASM's are entirely trial and error. There was a good possibility that they would not get it right on the first attempt.

Two and a half weeks went by on Liam's new ASM. On the morning of Sept 11th, at 9:10 am he stopped breathing when Mom was home alone with him. 911 was called and first responders arrived at the house. We reached out to his neurologist and increased his ASM dose. We agreed, if he had another seizure we would have to go to the emergency room. At 5:10 PM Liam stopped breathing and we took Liam to the hospital. Upon arriving he started to seize every 15-25 minutes from 8 pm to 10 pm. He had a total of 10 seizures on this day. After three more days in the PICU the doctors added a second ASM to his daily regimen and still could not find a cause. It was at this time it was suggested to do genetic testing. We wanted to help our son in any way possible so we decided to do a full genome sequencing.

On Sept 18th, just before Liam turned four months old, our family got the results from genetics and it was the worst news we had ever received. Liam has a rare genetic mutation called GNAI1 Related Neurodevelopmental Disorder. Symptoms of this mutation include, developmental delays, intellectual disabilities, neurobehavioral/ psychiatric manifestations, hypotonia, and epilepsy. In the available literature regarding GNAI1 (link posted below), there are only 26 known individuals with this mutation.

https://www.ncbi.nlm.nih.gov/books/NBK605493/

Since receiving this news, our family has been very proactive and are seeking all the possible treatments to provide Liam with the best life possible. Liam is now six months old and we have seen some delays in reaching developmental milestones. We have him in physical therapy, occupational therapy, cranial sacral therapy, and have found pediatric intensive physical therapy camps to help him in his journey. Not all of these therapies are covered under insurance and we have a long journey ahead of us. Over time we will find out how serious Liam's mutation will affect his overall quality of life. This gofundme was created to assist with all the costs associated with seeking the best medical treatments for our son.

We are quickly realizing to appreciate the small victories, all of the smiles, and special moments he brings to our family. We will never give up, we will never stop fighting for him.

Thank you to everyone who has supported us this far and in the future. We cannot do this alone and we are blessed to have unwavering support.

#HelpBabyLiam