At the end of the last post, Shelly and Coby were finding a diagnosis for their daughter, Kinley. In addition, Shelly found out she was pregnant again. You can read the beginning of Shelly’s story here and Shelly’s bio here.
Our story continues…
RASopathy syndromes
Kinley was 13 months old when she went to her first geneticist visit. The geneticist thought Kinley had a rare genetic disorder known as Noonan syndrome. This was based on Kinley’s facial features and her congenital heart defect.
Noonan syndrome is one of several RASopathy syndromes which are a result of a mutation in the Ras/MAPK cell pathway. The best way to explain it is to visualize the Ras cell pathway as a long hallway. On either side of the hallway are rooms. The rooms represent the varying syndromes. Depending on where the mutation occurred determined which room you were in. Although all the syndromes are unique, the only way to find them is through this long hallway known as the Ras cell pathway.
Sharing the same hallway is not the only similarity among the RASopathy syndromes, they also exhibit some of the same physical features. As a result, misdiagnosis was easy. Especially before the genes responsible for the mutations were discovered. At that time, diagnosis was based solely on physical appearance.
Kinley’s diagnosis
Since RASopathy syndromes are rare, this was the first time Shelly was hearing about one. Kinley tested negative for Noonan syndrome. However, the genetic testing for Noonan syndrome (at the time) was imperfect. So testing negative didn’t necessarily mean Kindly didn’t have it. But Kinley’s heart defects and her appearance strongly pointed to a RASopathy syndrome. It was only a matter of finding which one. On a side note, only a geneticist would’ve been able to notice anything unique about Kinley’s appearance.
It would take several more years and a different geneticist before Kinley would get an official diagnosis. Largely because the genes responsible for the RASopathy syndromes hadn’t been discovered yet.
Kinley would be 4 years old when she got officially diagnosed with cardiofaciocutaneous (CFC) syndrome, caused by a mutation in her MEK1 pathway. On another side note, the genes responsible for the CFC mutation were discovered in 2006.
Our story continues
Getting back to our story, Shelly’s goal at the time was finding her daughter’s diagnosis. She had no idea her search would take several years.
At this point in our story, Shelly was also concerned about her pregnancy. She didn’t know if Kinley’s genetic disorder was hereditary. How could she? She didn’t even know what the syndrome was. She had no idea about the odds of having another child with the same genetic condition. For all she knew, her unborn child could have a more severe strain of the same disorder.
There were so many unanswered questions in this chapter of Shelly’s story. It was definitely a physically and mentally trying time for her.
Physical and mental challenges
Physically, Shelly was exhausted! She was already dealing with Kinley’s sleep issues. Now add pregnancy to the mix. Basically, she was either getting up to take care of Kinley or she was having trouble falling asleep herself. Either way, a good night sleep was a rare commodity in those days.
Mentally, Shelly was struggling with self-doubt and overwhelmed by her circumstances. She was in her early 20’s, still so young herself. But instead of enjoying this time in her life, she found herself thrown in the midst of a raging sea without a life preserver. It’s not hard to see why.
After all, even before she could come to terms with Kinley’s genetic condition, she was pregnant again. Without getting any closure on Kinley’s condition, she has another slew of unknowns. This time about the baby she’s carrying. This is on top of being pregnant and all that entails. It’s easy to see why it was a difficult time for Shelly.
Kami
But then, for one joyous moment, problems, fears and finding a diagnosis were all put on hold while everyone celebrated the miracle of a new life. Shelly gave birth to her second daughter, Kami. Kinley is now 18 months old.
Kami, like her older sister, was a beautiful healthy baby. Thankfully, she didn’t have any congenital heart defects. Unlike the drama after Kinley’s birth, Kami came into the world like a soft, gentle breeze. Shelly described her as ‘ the perfect baby!’ She ate and slept well. This was a huge blessing. It gave Shelly some breathing room and the energy to continue searching for Kinley’s genetic condition.
Another unexpected blessing was the fact Shelly was able to work part-time. This allowed her more flexibility to balance work and the needs of her growing family. Life was still hard and it had it’s challenges. But the fact Kami was such an easy baby and Shelly was able to work part-time, gave Shelly enough strength to make it through each day.