We have an explanation. A family searches for answers.
When Dana Lange of Iowa City read about the June 21 groundbreaking ceremony for the new UI Children’s Hospital construction project, she was pleased and excited to know that young patients soon will have their own hospital dedicated to pediatric care. She also was inspired to share her family’s past experience at UI Children’s Hospital. Following is the Langes’ story, in Dana’s words:
Our youngest daughter, Victoria, was born in Iowa 15 years ago.
Having had an older daughter, we knew within three months her development was not normal. Immediately, physicians from many disciplines at UI Children’s Hospital were involved with her care at the Pediatrics Clinic—from Family Practice, Neurology, Genetics, Orthopedics, Ophthalmology, Occupational Therapy, Physical Therapy, and the Center for Disabilities and Development.
During the ages of 4 to 10 for Victoria, my husband’s career path took us to Indianapolis and Boston. So, we were able to experience two children’s hospitals and receive varying levels of care as we had no prognosis, diagnosis, or etiology as to why Victoria was severely developmentally delayed, non-verbal, and had to have all of her needs met by someone else.
Each year, a genetics appointment involved the latest and greatest of testing as genetic testing was evolving and advancing over the years. We wanted to be sure we didn’t miss anything for medical care. Also, our eldest daughter always wanted to know when she started family planning if she was a carrier in some way and may have a child similar to Victoria.
Five years ago, my husband’s career brought us back to Iowa City, and last October, we had our annual genetics appointment and more genetic testing. At that appointment they told us the panel [test] of 69 known genetic disorders they wanted to run would take quite some time to come back. We had already tested Victoria for 12 of the 69 over the years, so we figured: What’s a few more months?
Dr. Oleg Shchelochkov in Pediatric Genetics ran this panel to further help us on our journey for answers. After 15 years, I have to be honest, I was not all that hopeful—until two weeks ago when I received a voice mail message from Kim Horton, a nurse and genetics counselor, who said, “We have an explanation.”
My husband and I felt like we won the genetic lottery after calling her back and learning that the test results confirmed Victoria has Pitt-Hopkins syndrome (PHS), as there was a deletion on her chromosome 18.
I can’t tell you how grateful I am that UI Children’s Hospital has a genetics team that took that step to help us find answers. Victoria’s syndrome occurred at conception. Having this information explains so much of why she is the way she is, and how we as parents can better understand her medical needs. More good news is our older daughter has the same chance as anyone else of having a child like Victoria and is not a carrier of this syndrome. Of the 121 tested for PHS in the world, four are Iowans.
Please share with donors, colleagues, and peers our story that Iowa has the best out there for care of our children, and this new UI Children’s Hospital is extremely important to move forward with the excellence in care that we have already received.
It took us three states, two other children’s hospitals, and many doctors, but we now have answers for our precious child right back here in Iowa.
All the best to you and those involved in making UI Children’s Hospital the best success.