What is Stromme Syndrome?
We receive questions every single day asking what Stromme Syndrome is and how it affects Ruby's life. I thought it was time to write a detailed post about Stromme, how we came to Ruby's diagnosis, and how it affects her life.
First things first-- What is Stromme Syndrome?
The OMIM literature goes on to say: "Stromme syndrome is an autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016)."
How does Stromme occur?
According to our genetic counselor, "We all have two copies of the CENPF gene. A carrier of one mutation in one copy of the gene has no symptoms, as their second copy of the gene is normal. If a child inherits two mutations, one from each carrier parent, then he or she would have Stromme Syndrome." So, Ruby's dad and I each carried a copy of the gene and passed it along to Ruby.
How was Ruby diagnosed with Stromme Syndrome?
Ruby's medical mystery began before she was born. At my first ultrasound at 18 weeks, the tech commented that Ruby's bones were measuring smaller than we would expect at her gestational age. She asked if I was certain of mydate of conception (I was) and assured me that it was probably no big deal. I was referred for a level 2 ultrasound to get a better look at my baby girl.
At that appointment, my worst fears were confirmed. Not only were Ruby's bones measuring small, her head was also quite tiny, they couldn't find her kidneys, and she had what was called a "double bubble" in her intestine, which meant that she had a bowel obstruction of some sort.
I was swept into a world of appointments, tests and procedures to determine what condition my baby had, whether she would live, and what would need to be done IF she did live. I had more ultrasounds than I can remember, an amnio (which I adamantly did not want and was pressured to have by a doctor), blood tests and an MRI of my stomach to better visualize Ruby's brain.
I met with several perinatologists, a geneticist, surgeons at the children's hospital. I toured the NICU and spoke with neonatologists. I was offered an abortion more than once. I was told my baby likely had Trisomy 18 or 13, which is incompatible with life. When the results of my amnio came back, I was told that she didn't have Trisomy 18 or 13, but they didn't know what she had. After all of the tests, there were no answers as to WHY my baby had all of these issues, but doctors were still pretty convinced that she was NOT going to be OK.
In early November at 33 weeks, I went in for an ultrasound and they discovered that my amniotic fluid was low. They wanted me to come into the hospital the next day to be induced as they feared Ruby's health could decline quickly . I was given steroid shots to protect Ruby's lungs.
When I arrived at the hospital, I was given medication to ripen my cervix and got to relax in bed all day while it worked its magic. The plan was to give me pitocin once I had dilated to start contractions, likely the next morning.
On November 11, I woke up with contractions (no pitocin needed!) and after a very quick labor, Ruby Lynn was born! She cried immediately and had Apgar scores of 9/9, which was such a relief! She weighed just 3 lbs 9 oz. After getting to hold her for a couple of very short minutes, Ruby was whisked away to the NICU, my mom beside her every step of the way.
Those first few hours, Ruby was subjected to more tests than any tiny baby should ever have. I was told that she was doing better than they expected, breathing normally, but not able to eat because of her bowel obstruction. That evening during my visit to the NICU, a nurse casually mentioned to me that Ruby's eyes did not develop properly, a term called microphthalmia, and she would be blind. I would later find out that in addition to microphthalmia, Ruby has a condition called Peter's anomaly, which causes her corneas to be clouded.
The 56 days that Ruby spent in the NICU were a whirlwind, a roller coaster of ups and downs. When she was only four days old, she had surgery to repair her bowel obstruction, which we found out was called "apple peel atresia" (also known as "Christmas Tree intestinal atresia") To put it very simply, Ruby's bowel is wrapped around its blood supply in a spiral formation resembling an apple peel, and part of the bowel was missing and needed to be reattached. She slowly recovered from surgery, working her way up from small tube feedings to larger bottle feedings. While I had truly wanted to breast feed, she was not able to coordinate her suck reflex effectively, so I pumped for several months to offer her the most natural nutrition to help heal her intestines.
Every day, a different doctor came to the hospital to take a peek at Ruby: ophthalmologists, cornea specialists, gastroenterologists, pulmonologists, nephrologists, surgeons, neurologists, geneticists, orthopedists...the list goes on. I was overwhelmed with information and the pessimism that doctors so often seemed to exhibit.
I continued doing my own internet research and found a very rare syndrome that seemed to line up with Ruby's symptoms. It was called "Apple-peel" intestinal atresia, ocular anomalies, and microcephaly syndrome. At the time, there were less than 12 cases of it documented. I printed it out and brought it to the NICU. Her doctors clinically diagnosed her with this syndrome, though there was no test to confirm at the time because they had not yet discovered the genetic cause.
On January 8, 2005, Ruby was finally able to come home from the hospital at just 4 lbs 6 oz. Ruby struggled with reflux, she had hip dysplasia that required bracing and eventually a cast for 6 weeks, she had sleep apnea issues, high blood pressure, and lots of other things going on, not to mention the typical sicknesses that affect babies but could be potentially fatal in a preemie. She had at least 200 doctors appointments that first year. I eventually went back to work part-time when she was 9 months old.
Somehow, despite all of the challenges that she faced, Ruby continued to develop and grow. She sat up and crawled, laughed and ate solid foods. She walked just before her 3rd birthday and began talking around age four while going through applied behavior analysis. We discovered that she could see colors when I discovered her matching colored shapes together. She went to pre-school for part of the day and began kindergarten on time. As the years went by, her personality blossomed and she became more outgoing and social.
We saw a geneticist for a few years, but nothing new was coming to light about her syndrome, so eventually I stopped scheduling those appointments.
In 2015, I received a message from a friend I had met online several years before in a special needs support group. She told me that she had connected with a woman who had two daughters with "Stromme Syndrome," and it sounded a lot like what Ruby has. I did a quick internet search and discovered that the super rare ""Apple-peel" intestinal atresia, ocular anomalies, and microcephaly syndrome" had now gotten an easy-to-say name: "Stromme Syndrome" (named after the first doctor to study it). They had determined that the syndrome was caused by compound heterozygous mutation in the CENPF gene on chromosome 1q41. There was finally a test that could be done to diagnose the syndrome.
I thought "that's cool, now I can just tell people that Ruby has Stromme Syndrome -- it's a lot easier to say!" But I wasn't in any rush to get genetic testing done. Honestly, I never worried about Ruby's diagnosis. To me, Ruby was just Ruby and a label or diagnosis didn't change the way I treated her.
Then in 2017, we were thrust into the public spotlight when Ruby's video went viral. Overnight, Ruby became a spokesperson for Stromme Syndrome. At that point, I felt it was important to have genetic testing done to confirm the clinical diagnosis.
Of course, the results came back positive. While the test confirmed what I already knew, it gave me something that I hadn't expected: much needed closure. For so many years, Ruby's diagnosis was still such a mystery because of it's rareness and lack of a concrete genetic cause. Part of me always worried that maybe I did something wrong during my pregnancy to cause this to happen to her. Now, I knew without a shred of doubt that it was simply caused by a gene that I would have never known Ruby's dad or I possessed.
How many cases of Stromme Syndrome are there?
This question is impossible to answer because new cases are coming to light all the time now that there is a genetic test available. I'm sure there are also many that cases that are still undiagnosed. I personally know seven families who have children with Stromme Syndrome. And a baby girl was just born three months ago who has Stromme (and looks strikingly similar to Ruby as a baby!). So, while I was originally told there were just 12 cases, our genetic counselor told me she would feel comfortable saying that there are less than 50. That said, Stromme is extremely rare! With a world population of 7 billion, Ruby is one in 140 million!
What is Ruby's prognosis?
Given that Stromme Syndrome is so very rare and there is limited clinical documentation available, it's impossible to predict Ruby's future based on her Stromme Syndrome diagnosis. But I will always be a fierce advocate to help her be as healthy and happy as possible. And I plan to use Ruby's platform to continue to spread awareness and hopefully locate more families who have a Stromme (or suspected) diagnosis so we can learn more about it.
If you have other questions, check out our Frequently Asked Questions page!