Meet Savannah. Savannah is my beautiful rare gem who inspires me daily. She’s truly one of a kind. We are a family of three. Savannah is our only child and she lives at home with Mark and me (Lacey) in Salem, Massachusetts.
Savannah was diagnosed with Ogden Syndrome in March of 2015 through whole-exome sequencing. Savannah has a complex history from the moment she entered the world. She suffered a stroke and brain bleed during birth leading to hydrocephalus. Savannah consequently required a brain surgery to place a VP shunt resulting in a six week NICU stay. Her stay was also complicated by feeding difficulties. During her NICU stay, her skin was very mottled, her cry was weak, but throughout she demonstrated her warrior attitude. Savannah is a tough little girl who has endured so much, smiling through most days. She is pure, strong, brave, beautiful, happy, hard-working, funny, resilient and the biggest blessing in my life. She’s my rare gem.
Initially when Savannah was diagnosed, I honestly thought it was amazing that she was so rare. We were told 1/6 in the world. Then everything set in. How would I get answers? Would she live long? What would her future look like? Thankfully we immediately connected with two US families sharing pictures, stories, and a Facebook group was started. It was crazy to learn some of their similarities. Our group has grown so much and has given me so much hope that there are girls near my age living with her same mutation. This was one of my biggest fears early on.
Following the diagnosis, we set up an appointment with cardiology because of the risks for heart arrhythmias and that Savannah carries another heart mutation (independent of her NAA10 mutation) that was discovered with genetic testing. We already had every specialist under the sun and adding cardiology was a little scary.
Savannah is 100 percent dependent on us for her daily living skills. Some of our biggest challenges were not early on but have emerged as she has grown and different challenges were added, including epilepsy. Savannah is nonverbal, non-ambulatory, and legally blind due to her cortical/cerebral visual impairment diagnosis. This presents many challenges, but loving her is so easy. She truly gives me strength every day.
I find some of life’s biggest challenges to not really be my biggest concerns although sometimes they are very frustrating. We are constantly fighting and advocating for what she needs whether it’s with insurance, school, or anyone who doesn’t understand the complexities of raising such a unique child. In addition, trying to figure out financially how we will support her needs including a one-level house, a wheelchair-accessible vehicle, and any supports that are not covered through insurance that she needs. This can be mentally draining when you’re in the thick of it and trying to remain focused for your child, but we always move forward and conquer our next obstacle.
I have found connecting with other families of children with special needs to be so helpful. When Savannah was two, I joined an infant-toddler group at Perkins School for the Blind where I connected with families raising medically complex children with special needs.
Connecting with others via social media has also given me strength along this journey. In learning to open up and share our own journey, I have also opened up to community events for children with special needs including: adaptive hockey, adaptive surfing, Team Hoyt racing, adaptive skiing, biking, horse therapy, and more. Always seeing the ability in disability. It’s truly rewarding. Above all, our Naa10 family is strong, full of different ideas and recommendations and a more intimate place to share your journey, ask questions, express concerns, and connect to other families.
I hope any family living with NAA10 knows that immediately they become a big family of Naa10 supporters. It’s truly amazing to not know many of the families but to feel so connected. I also want anyone with a new diagnosis to know that it’s going to be OK. There will be tough days but those days will only make you stronger. You will see the warrior spirit and want to fight as hard as your child will fight in their daily life. You will be inspired by this amazing group of children and families. You will grow tremendously from this journey and when the days are tough, know that we are here and we are your NAA10 family.