Psalms 46:5 “God is within her, she will not fall.”
Sydney was born on April 19, 2021. Pregnancy and labor went smoothly— we wouldn’t have expected anything else other than a perfectly healthy baby. Within an hour after birth, Marco had noticed Sydney’s eye had some strange movements and brought his concern to the pediatrician doing rounds. She said “newborns are still trying to control their eyes so its normal for the first six to eight weeks.” Two days later, we were discharged from the hospital to rush home to introduce Sydney to her sister.
The next day, we went for Sydney’s first wellness check up and the pediatrician had noticed Sydney’s complexion appeared more yellow so we went back to the hospital for what we expected to be only 24 hours of photo-light therapy to help her jaundice. Six hours later, Sydney was admitted into the Neonatal Intensive Care Unit (NICU) for having “seizure-like activities.”
Sydney was then placed on a 24 hour video-surveillance electroencephalogram (EEG) to monitor if there were any seizure activities. The neurologist and neonatologists confirmed there were no seizure-like activities recorded but were unable to explain Sydney’s behavior. During our day stay in the NICU, Sydney had 3 MRI’s, MRI-a’s, head ultrasounds, echocardiograms, tons of blood work done, and a whole genome sequence sent out to Germany.
One by one, Sydney’s results came back normal. Relieved, we thought we would be able to go home. However, every neonatologist could not determine what was causing Sydney to show these signs of nystagmus, uncontrolled stiffness, and irritability. In the NICU, we continued to work with both the occupational therapist and physical therapist to strengthen her low muscle tone.
After 25 days and several care conferences, we were finally discharged from the NICU to go home with a diagnosis of Sandifer’s Syndrome. Sandifer’s Syndrome is a gastro-oesophogeal reflux disease which causes abnormal movements from severe acid reflux. From there, we had scheduled several follow up out-patient appointments with the geneticist, neurologist, cardiologist, pulmonologist, gastroenterologist, and the opthalmologist for them to continue to monitor Sydney.
A week and a half later, we received a call from the NICU that changed our lives forever.
The results from the whole genome sequence finally came back. It revealed Sydney had a mutation on her ATP1A3 gene and on June 1, it was confirmed Sydney has a rare diagnosis called “Alternating Hemiplegia of Childhood”.
Alternating Hemiplegia of Childhood (AHC) is a complex 1 in a million neurological disorder that presents with episodes of epilepsy, paralysis, and dystonia (stiffness in extremities), and hypotonia (low muscle tone).
These episodes are neurodegenerative and right now, there is no cure. Sydney’s episodes also include nystagmus (uncontrolled eye movements) and is often in excruciating pain during her dystonic attacks. There is no effective treatment or medication and very few options to manage her episodes. Dr. David Liu and his team of researchers at the Broad Institute of MIT and Harvard University in Cambridge, MA are dedicating their lives to investigate gene therapy as a path for a cure for AHC.
We are already so thankful for the team of specialists at the Children’s Hospital caring for Sydney and are always rooting for her to to get stronger. We know we will continue to encounter challenges with Sydney and AHC but if we have learned anything, Sydney’s perseverance over the last couple of months allow us to cling to hope and faith.
Though Sydney’s future is unknown, we are determined to give her the most beautiful life possible and help bring awareness to fund for research and the cure.
“'For I know the plans I have for you,' declares the Lord, 'plans to prosper you and not to harm you, plans to give you a hope and a future. '” — Jeremiah 29:11
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