I apologize for the lack of updates. Life has finally slowed down after the hustle and bustle of traveling, moving back to Tacoma, and the holidays. Shirley has officially learned to crawl, albeit quite begrudgingly… she still prefers to scoot when she is on the floor. She is now a professional cruiser and has taken as many as NINE unassisted walking steps in a row. We are so proud of her!
The following portion of the post is information dense. So, if you’re just here for the photos, you can scroll to the end.
In my last post I wrote about how we were scheduled to see the Mary Bridge Genetics clinic in September. I gave a short update a couple months ago on Instagram, but I figure I should include the whole story here, as well. At our first appointment, our geneticist agreed that there seemed to be something more going on with Shirley’s development. She suggested a test for Noonan Syndrome (something Joseph and I had already been considering after much research), the test came back negative.
We decided to move forward with a full exome sequencing test. They warned us that the test could come back inconclusive, which wouldn’t necessarily rule out the possibility of a genetic cause for Shirley’s heart anomaly and developmental delays, it just means they couldn’t definitively connect the dots. In order to complete the test, Joseph and I had to get our blood drawn as well. They would compare Shirley’s DNA with ours in order to gather as much information as possible.
We gave our blood samples at the end of November. On December 28th I received a call from genetics informing us that there was a “finding” that can explain a lot of what is going on. Shirley has a mutation on the PUF60 gene on her 8th Chromosome. It’s called Verheij Syndrome. It is, as of now, extremely rare. Partly because it is a newly discovered/researched syndrome (within the last 5 years) and it takes extensive genetic testing in order to diagnose. The geneticist who called me had to spell it out for me. He wasn’t even quite sure how to pronounce it himself!
We went back in to the clinic for a follow-up appointment last week. We learned that there are two variants of Verheij syndrome. One is a point mutation, essentially a misspelling, on the PUF60 gene (Shirley has the point mutation) and the other is a deletion of the PUF60 gene and sometimes pieces of surrounding genes. The point mutation is significantly less common. Our geneticist said she only found 18 other confirmed cases in her worldwide database. Additionally, Shirley is the first one to be recorded with her specific mutation (misspelling), all the other people who have the point mutation have it on different locations on the PUF60 gene.
The origin of Shirley’s mutation is something they call “De Novo,” which means it occurred spontaneously with her. Neither parent carries it. It is an also autosomal dominant, so if/when Shirley would like to have children, there is a 50/50 chance of her passing it on.
Verheij Syndrome has been linked to Cardiac anomalies (Specifically septal defects – Shirley has both a ventricular septal defect and an atrial septal defect), Joint laxity, Feeding difficulties, growth delays, developmental delays, Skeletal abnormalities, certain facial/physical features, kidney, eye, and hearing issues. Just like any other Genetic disorder, there is a range of severity in all of these areas. In most of the studies, the deletion variant seems to present more severely than the point mutation.
Our Geneticist suggested Shirley get a spinal x-ray, kidney ultrasound, and be seen by both an ophthalmologist and audiologist. Since Shirley has several chest x-rays on file (due to her surgery and pneumonia), and she received a kidney ultrasound while inpatient at Seattle Children’s (due to her UTI), our geneticist said she would have those looked over before ordering another x-ray or ultrasound. Furthermore, Shirley is already seeing both an ophthalmologist and audiologist. So, we haven’t added anything to her plan of care – for now.
I hope I explained everything in a somewhat coherent manner. It’s a lot of information, and we’re still digesting it. One thing we are sure of is this: Shirley is fearfully and wonderfully made. She is God’s beautiful handiwork, and we are so very blessed to be her parents.
Below are some photos from the last couple months.