Torsten was born in June 2012, after a mostly normal pregnancy. He came a few weeks early, via emergency c-section, due to a couple of minor concerns, but was otherwise a very healthy baby. At his 4 day checkup, the doctor noticed a deep sacral dimple at the base of his back, and sent us for an ultrasound. The results were inconclusive, and we were referred for an MRI at 6 months. Those first six months were wonderful, and we had no idea that there would be any future health or developmental concerns.
The results of his MRI at 6 months showed that Torsten had a tethered spinal cord. Although serious to us, we were assured that this was a fairly simple procedure for the neurosurgeon, and that he would only take a few weeks to fully heal. She was correct - the surgery went fine and Torsten healed quickly and remained his happy self throughout the hospital stay and home recovery. Around the same time, he also had surgery on both eyes for strabismus, a stay in the hospital for what we were told were "involuntary muscle jerks" (we now believe they were seizures), and an operation on his mouth for a severely tethered tongue/feeding issues.
Aside from his mostly minor health issues, Torsten was falling behind developmentally, and the gap was widening by the month. We put him in occupational, speech and physical therapy, which continues to today. We met with geneticists and were told that he was just a little behind, but would catch up. They said that all of the medical issues were coincidental and most likely unrelated. As we watched our sweet boy fall farther behind, we weren't convinced and sought out a third geneticist, one who would be a more aggressive in their testing. Although she initially thought Torsten had another syndrome, on the second test, she got it right and we finally got the PKS diagnosis in February 2015.
Torsten's diagnosis was more of a relief than anything. Since that day, we've become linked with a wonderful network of PKS families (they're now our extended family!), have learned so much about our kid's common traits, have added some great and well-informed doctors to our network, and are better armed with knowledge of how to get our son the best care available.
Torsten is the happiest, most caring, kindhearted, loving, smiley, fun, mischievous, adorable, snuggly treasure of a child. He is just starting to talk, walks (and is starting to run!), eats like a horse, and absolutely wins the heart of everyone he meets. He is the teacher's pet and the light in our lives. He has a younger brother and a baby sister who also adore him. The three of them are just starting their adventure together, but are sure to have more stories to share in the coming years!
If you'd like to keep up with Torsten, you can visit his blog at: http://littlemistert.blogspot.com/
Natasha (Torsten's mom)