Ruby is a 13-year old princess with a rare genetic condition called Stromme Syndrome. It causes vision impairment, microcephaly, intestinal issues, slowed growth and developmental issues. As far as Angie knows, there are only 12 cases in the WORLD! Ruby is truly 1 in a million…or maybe a BILLION!
The day everything changed
Angie’s pregnancy was totally unplanned and the father of the baby did not support her decision to continue the pregnancy. Angie contemplated other options, but she knew that she had to bring her baby into the world to become part of her loving and supportive family, with or without the father’s support.
Ruby’s issues first became apparent when Angie was 18 weeks pregnant, during her first routine ultrasound. With her momma (and best friend in the whole world) beside her, she excitedly awaited to find out if she was going to have a boy or girl. As the ultrasound tech swished the wand back and forth on Angie’s belly, she grew quiet. “When was your due date again?” she asked with noticeable tension in her voice. The tech revealed that Ruby was measuring quite small for her due date, but she said it was probably nothing. The exciting news was that Angie was having a baby girl! She was so thrilled to be bringing a baby girl into the world but so afraid that something was wrong with her little love. Little did she know, the worst was yet to come.
When Angie arrived to work that day, she received news that changed everything: Ruby’s father had died by suicide the night before. Even though he was not supportive of the pregnancy, Angie had hoped he would come around to be in Ruby’s life. Now she had not only lost one of her best friends, but also his potential support and role in Ruby’s life. Angie was devastated and so afraid for her future.
Finding hope where there is none
The news about Ruby just kept getting worse. At each ultrasound, something new and scary was revealed. Doctors told Angie that Ruby had dilated ventricles, a small head (microcephaly), a bowel obstruction that would need surgery immediately after birth, failure to thrive, and for a really long time, they could not find her kidneys. Angie was on a nonstop rollercoaster ride of emotions. Doctors told her that Ruby might not walk or talk or do much of anything at all–if she even made it to her birth. One doctor asked Angie if she wanted to abort the pregnancy, and Angie said no. She knew she would rather have one single moment with her baby girl than to never know what her life might become, and since things kept changing on a regular basis she was having a hard time trusting her doctors.
At one appointment, Angie’s neonatologist recommended that she have an amniocentesis. The doctor said it was critical to know if Ruby had a genetic disorder that was incompatible with life. She stressed that knowing whether Ruby was going to die before or shortly after birth would determine whether they would do life-saving procedures on her, potentially risking Angie’s life. Though Angie absolutely did not want to put her pregnancy at risk, she went along with the amnio, which revealed absolutely nothing. Ruby was a mystery.
One day after a particularly scary appointment, Angie came home, crawled into bed and cried for hours. She begged God to please make Ruby OK. She pleaded that she would do absolutely anything if Ruby could just be healed and her life could be full of love and happiness. In the midst of her sobs, Angie felt peace and acceptance wash over her. She realized at that moment there was nothing more she could do but just pray that God would watch over them and help them navigate whatever challenges were to come. From that moment, Angie knew she could handle whatever the future threw at her.
A gem is born
Ruby came into this world on November 11, 2004, at 3 lbs. 9 oz., 17 inches long, with a room full of nurses and doctors to greet her. Angie was induced seven weeks early because her amniotic fluid was depleting and Ruby was showing signs of distress. Ruby’s gave out the sweetest little cries Angie had ever heard after just a few minutes of getting to hold her, she was swept away to the NICU, with her nana by her side every step of the way.
Over the next few days, Angie discovered that Ruby not only had microcephaly, she also had micropthalmia (small eyes) with clouded corneas, which likely meant that she was blind. Angie had not even considered the fact that Ruby’s vision could be affected, which was just another blow to her already wary heart. When she wasn’t at the NICU holding Ruby, Angie started doing lots of internet research, which led her to find a conditioned called, “Apple-peel intestinal atresia, ocular anomalies, and microcephaly syndrome.” The symptoms all matched up with Ruby’s perfectly. Angie brought the writeup into the NICU and Ruby’s doctors agreed that was likely Ruby’s diagnosis. However, there were no genetic tests at that time that could affirm the diagnosis because it was so rare.
On day 4 of life, Ruby had surgery to repair her bowel obstruction. She sailed through the surgery and only had to be on a respirator for a few hours. However, this was just the beginning of Ruby’s challenges in eating and going to the bathroom. Ruby did not tolerate feedings well and would vomit up most of her milk. It took a long time to get her on a regular feeding schedule and gaining weight.
Home sweet home
After 56 days in the NICU, with so many ups and downs, Ruby was finally able to come home. She was only 4 lbs 6 oz., but she was eating well and slowly gaining weight. Angie could not believe the doctors trusted her enough to take such a tiny baby home! Thankfully, her mom and sister were there to help her navigate those first exhausting nights.
That first year, Ruby had hundreds of doctors and therapy appointments to help keep her healthy and try to maximize her development. She was diagnosed with hip dysplasia and had to wear a hip harness for several weeks followed by a half body cast for 12 weeks, which was so challenging for both Ruby and Angie. BUT–they made it through that first year and Ruby was able to go to daycare so Angie could finally return to work.
12 years later
It would take a novel to document all of the ups and downs and miracles that have occurred in Ruby’s life–maybe someday Angie will get the time to write that! Throughout the last 12 years, doctors have made many predictions about Ruby’s future and she has proven them all wrong. Ruby started walking at age 3, began speaking around age 4, and she started kindergarten with her same aged peers. She has developed an amazing personality and just exudes light and love.
Ruby is currently in 6th grade at a typical middle school, where she spends most of her day in a special education classroom. She goes to lunch and choir with her typical peers and they do reverse mainstreaming where typical kids join the special ed classroom. Because Ruby has had such amazing and inclusive educational experiences, she has grown tremendously.
Some of Ruby’s favorite things include Frozen, Frozen fever, any other Disney movie, Elmo, playing Miracle League baseball, and her dog Stella (who is commonly featured in her Instagram videos) and her cat Dot. She also loves learning words in new languages and enjoys listening to Frozen’s Let it Go in 50 different languages!
A couple of years ago, one of Angie’s online friends said she had met someone with Stromme Syndrome and the symptoms sounded exactly like Ruby’s. Angie connected with the woman and found out that the syndrome had not only gotten a name over the years, but also that there are two little girls in the US with the same syndrome as Ruby!
Life has not always been easy for Angie and Ruby, but they have found that positivity really helps to keep them going on the darkest days. Angie started this blog a fews years ago and though she had the best of intentions of updating it regularly, life gets in the way. She has found that sharing videos and pictures of Ruby on Instagram is a great way to keep friends, family and amazing followers from throughout the world updated on the amazing world of Ruby! Someday, Angie and Ruby hope to tour the world and give each of their sweet followers a hug!
When she’s not managing Ruby’s budding Instagram career, Angie is a freelance marketer–aka-Jack of all trades. She offers writing, graphic design, photography and other creative services to a handful of amazing clients. Angie’s wonderful boyfriend has two adorable boys who are awesome friends to Ruby. They all enjoy playing board games & Uno, making paper airplanes, eating pizza, watching Speechless, jumping on the trampoline, throwing water balloons at each other, playing Pokemon Go, and making fun of each other–all. the. time.
Angie and Ruby are also blessed beyond measure to have support and love from their amazing family and so many wonderful friends who move heaven and earth to be there for them.