Alexis, 11 (Anchorage, AK) | Optic Nerve Hypoplasia

ALEXIS, 11 (Anchorage, AK) | Optic Nerve Hypoplasia

written by her mother, Jennifer

photographed by Laura Stennett Photography 

I found out I was pregnant in the summer of 2004; I was nervous and excited. I thought about all of the things I would teach my daughter, and all of the things she could do. I never imagined all of the things she would teach me. I prayed for a healthy and beautiful baby.  I never dreamed how my world could be turned upside down.

When Alexis (Lexi) was born, they handed me a perfect little girl. She had a head full of curly black hair, beautiful lips and the cutest hands and feet I'd ever seen. She wasn't crying, and the hospital staff said she doesn't want to wake up, she wants to go back to sleep. Little did I know that was a sign of the journey ahead. When she finally let out a whimper, it was the most beautiful sound I've ever heard.

A few hours later we switched rooms, and the nurse turned on the light. Lexi was blue. She was rushed to the NICU, I had no idea why, and I wasn't able to see her until the next day. When I saw my little girl, she was hooked up to monitors and IVs. She had jaundice and was under UV lights, she couldn't regulate her body temperature, and her blood sugar levels were really low.

Her feet were poked for blood every three hours, and finally on day seven, she was diagnosed with low cortisol and was given cortisol replacement three times a day.  Hospital staff reassured me she would probably grow out of it and eventually be fine. Alexis was monitored for another three days before getting to come home.

I noticed she wasn't focusing on objects. At Lexi's two-month check up, the doctor shined a light in her eyes, and with a concerned look, she said I'm going to get another doctor. That doctor said, “I'm so sorry, but Alexis has no light perception, and she is blind.”

I felt my world come crashing down!  Thousands of questions flooded my mind: how did this happen, and what did I do wrong?

We were referred to a pediatric ophthalmologist, that doctor had a wait list of four months. Thankfully, they were able to see us within a month. This time she had light perception, and it was the best news. It meant she could see!

The doctor wasn't optimistic about how well her vision was "She will never be able to see color or shapes."  I didn't care; I knew there was hope! Alexis was diagnosed with Optic Nerve Hypoplasia/de Morsier syndrome. I was told she may never be able to walk or talk. Once again, I felt like I let her down.

As angry and sad as I was, I knew I had to be strong for her. No matter what, she was my little girl, and I loved every ounce of her.  We were going to get through this!

I never could have imagined how she was going to prove all of the doctors wrong! Alexis started receiving OT, PT, and services for the blind when she was three months old. Alexis has always been full of life; she is happy, loves to meet new people and loves anything that breathes, even insects! Yuck!

Lexi started to crawl when she was a year old and started to walk a few months after her third birthday. She started school when she was three, and she loved it! Lexi has hypopituitarism, which controls her growth hormone and metabolism, so she takes growth hormone replacement every night.  She is lacking thyroid hormones, and was diagnosed with adrenal insufficiency, which means she doesn't produce enough cortisol on a daily basis or in stressful situations.

Sometimes she has seizures when she gets ill due to her not producing enough cortisol. I decided I wanted to get Lexi a service dog, and with many peoples help, we were able to get Kona. She is in the process of being trained in seizure alert and cortisol detection for Lexi. It sets my mind at ease knowing I will be alerted if Alexis’ cortisol levels start to drop or if she starts to have a seizure.

Kona and Lexi are two peas in a pod. Two years ago, we found out about Camp Abilities, a summer camp for the visually impaired. Before then she didn't want to use her white cane, but once she saw everyone using one, she didn't mind using "Rosa."  At first she was scared, but by the second year, she stayed the whole week! Lexi has made many friends through camp, friends that will forever have an impact on her life.

I knew I always wanted to be a mom, but I could have never imagined just how much I needed her. She has blessed my life.  Lexi struggles everyday as much as she thrives. Life is what you make it, and everyday she makes me the proudest and happiest mom in the world. There is no cause or cure for kids with ONH. It occurs 1 in 10,000 births, and sadly is becoming the number one leading cause in childhood blindness. 

Jennifer said she has found this Facebook group for parents of children with Optic Nerve Hypoplasia to be extremely helpful in navigating their journey and finding support: https://www.facebook.com/groups/ONHSOD.parents.MAGIC/