24 Jan Tammi Creed
When people meet our daughter Kaci, they politely ask, “What is her diagnosis?”. I always respond with “Well, that is a really good question that we do not have an answer to”. I then proceed to spew off some of her main challenges, such as epilepsy, severe generalized developmental and cognitive delays, hypotonia, oral dysphagia, reflux, and sialorrhea. I try to explain to them that she affects every aspect of our life, such as the house we buy, the school districts we choose, our vacations, our meal planning, and our sleep schedule.
You see, without a diagnosis, our child, our life, cannot be understood by most people. I am not able to reply that my child has a diagnosis such as Down Syndrome, Cystic Fibrosis, Cerebral Palsy, or Autism. There is no concept that can be formed by others or a specific condition they can research. Only our immediate family and friends who have spent time with Kaci have a general understanding of the challenges in our life. Some people we meet do not even know we have a fourth child. We often leave her at home because she cannot cope with loud environments, unfavorable weather conditions, and unsafe places. Most of the time my husband and I have to divide and conquer to make sure one of us makes it to our other kids’ activities and appointments.
When you are constantly tired because of the lack of sleep, appointments, therapies, paperwork, insurance fights, medical supplies, and special food challenges, you tend to accept the fact that your child is undiagnosed. Then there are times when you get frustrated and cannot fathom why in today’s world of modern medicine, they cannot give us a reason for all her challenges. In the beginning, we just tried to keep from drowning. We moved a lot because of my husband’s job. We had an F4 tornado go through our town and our home. We have 3 other children and my husband is an executive that works long hours and travels a lot. At some point in the midst of all our chaos, one of Kaci’s doctors casually mentioned the Undiagnosed Diseases Network (UDN). They knew we were getting ready to move from Chicago to Houston and things were busy for us. I immediately did some research and found that Baylor College of Medicine (BCM) in Houston is one of the UDN sites. I called that doctor back and asked her to write a study recommendation letter because we wanted to start the process immediately.
The process of applying to the UDN is an overwhelming effort and provides hope that could quickly be diminished by getting denied. After submitting the application, letter of recommendation, and records from the seven different facilities that Kaci had been seen at, we prayed. For any family in our situation, you can always hope. Life is hard and very depressing at times with a child with special needs. It can cause you to be a pessimist so I have learned to not set expectations at times. However, life with Kaci can also be very rewarding and enlightening. We know that without a diagnosis and therefore no expectations, there is also no limit to her capabilities or her life. No matter what, we always hope she will make progress.
We were fortunate that Dr. Hsiao-Tuan Chao at BCM took an interest in Kaci’s case. We met with the team back in February of 2020. After seeing a few doctors and running several tests, we left there without a diagnosis and they said they would continue to work on diagnosing Kaci. At this time they still have no specific information to give us. They continue to research her genes and her conditions to find a diagnosis. We will never give up hope. We hope that someday we can find a word or phrase that could help describe Kaci to others. We hope that it will be something you can look up on a computer and better understand. We hope that we have a community of others with the same diagnosis so that we can support each other. We hope to be able to help and mentor the new parents with a recently diagnosed child. We hope for someone with a child older than Kaci, to tell us what our future with her might look like. The unknown is scary all the time but it is our life. What we do know is that she needs a lot of help and care. We are grateful for everyone we have met along the way in her life. We will continue to always hope they can find a diagnosis.