When our daughter K was born, My husband, and I never expected the blessings she would give or the live lessons she would teach.
After an uneventful pregnancy, K was born via emergency c-section. We had expected her to be monitored in the NICU as a precaution, but we also expected to take home a perfectly healthy child.
Almost immediately, there were clues that there was something terribly wrong. K displayed a few unusual features such as: a flattened ribcage, low-set ears, hands that were folded and touching her arms, and long fingers. Still, she had nothing that could be compared to a syndrome in which features are prominent and/or distinguishable. Upon further examination, doctors realized that her heart was beating unusually fast and her breathing was also very fast. They also noticed that she was missing a set of ribs.
With our new beautiful daughter in the NICU, the we waited impatiently for a diagnosis while marveling at the beautiful life we had been given!
Doctors, meanwhile, were at a loss about what was going on with our little girl. They had ordered genetic testing to be done to pinpoint what the future would hold. K’s blood samples were sent to Omaha, NE, Vermillion, SD, and to Germany to run tests to find any similarities to previously diagnosed genetic disorders. None were found.
After months of waiting, geneticists discovered a duplication of a portion of one of her 12th chromosomes. Unfortunately, there has never been another documented case of this exact abnormality. We finally had an answer, but this answer meant a future full of uncertainty. We didn’t know if she would ever speak, walk, or if she would lead a full life.
The next three years involved countless trips to a variety of specialists. So far, this specific duplication has affected her mental development, fetal eye development, bone formation, muscle tone, and coordination/balance. It also caused her hips to be dislocated at birth resulting in two surgeries at the Mayo Clinic in Rochester, MN and required being in a body cast for six weeks. Her tiny heart had multiple defects, which required open heart surgery at the age of two, also performed at the Mayo Clinic.
Since K’s last surgery, she has been on a rigorous Physical, Occupational and Speech Therapy schedule to try to help her reach her potential. All of the regular milestones that healthy kids achieve are major accomplishments for her! A seemingly small success usually means a major celebration!
At the age of seven, K has endured more than most kids, but unless you saw her scars, you would never know. She is a tender-hearted little girl that loves to make everyone around her happy! She is sweet and outgoing and even the littlest things make her so genuinely excited! Although she will probably always struggle hitting her academic milestones, her progress is a display of a true miracle that no one could have predicted. K is able to hold short conversations, and she recently began riding a bike without training wheels!
She now has two little brothers to play with (G, 1 and T, 4). We have learned never take good health or the smallest achievements for granted. We feel truly blessed to have been chosen to be K’s parents and look forward to every new day.