Kaitlynn will be celebrating her 2nd birthday this weekend! For many parents this is a big moment in their child’s life, but for proud parents Michaelle and Scott this is truly a blessing. At 6 months of age, Kaitlynn was diagnosed with a rare Chromosome disorder which has affected her communication, mobility and believed to be the cause of her seizures. Today, Kaitlynn is still developing these basic skills and learning to do so with constant care from her mom, dad and numerous doctors. Although she has been suppressed by these ailments, I was amazed to see just how happy this soon-to-be 2-year-old is. Kaitlynn has the most adorable smile and truly lights up a room. Happy Birthday Kaitlynn!
To learn more about Kaitlynn’s struggle please read Michaelle’s words:
Kaitlynn (as we like to call her “Little Bean”) was born on October 24, 2008 perfectly healthy (so we thought). She was full term with zero complications throughout the pregnancy and or birth. The first several months home with Kaitlynn were great. She had no real serious symptoms that gave us any clue something could be wrong with her. She had the typical projectile vomiting, acid reflux, you know baby stuff. The only thing doctors were concerned about was Kaitlynn’s weight. She was born 6 pounds 9 ounces which is a pretty normal size. However, she failed to gain any significant weight as the months went on. Doctors did protocol testing to make sure she was ok and of course all the tests came back fine. As the months went on, my concern started to grow that something may be wrong. The vomiting got worse and she was just so small for her age. Then the developmental questionnaires started to concern me. At 4 months she was a bit behind and then at 6 months she was even further behind. She was becoming more and more low tone: unable to sit up or hold her head up. I knew something was wrong but the doctors didn’t seem to be concerned yet.
Then one morning, I walked into her room to wake her and she was smiling like normal. I lifted her up and placed her on the table to change her diaper and then it happened. Kaitlynn had her first of many seizures to come. She began convulsing and clenching her body. I couldn’t believe what was happening. I placed her back in the crib and called 911. This day changed our lives forever. I couldn’t help thinking that it would all be ok, that kid’s sometimes have seizures in their lives and they are fine. That was not our case. While still in the hospital, Kaitlynn had several more seizures, they kept us for a week as they ran test after test to see what was causing our daughter to have these seizures. These events continued over the next 3 months and we basically lived in the hospital. Every test was coming up normal but it was apparent that our daughter had something wrong. By this time she had over 30 seizures and we had no answers.
Then the doctors finally called in the genetics department and lo and behold they found Kailtynn to have a rare chromosome disorder. It is called (46,X*,t(X*,2)(p11.2:p25) and so far it appears to be balanced.
We were a bit relieved that the doctors found something but in the next breath they said they cannot be 100 percent sure that this finding is causing all of Kailtynn symptoms. So we will have to wait and see what happens as she gets older. That news was devastating for us. And as you know things get worse before they get better. I was let go from my job due to all the hospital time I needed to spend with my daughter. My husband and I decided that the only way we could survive is if we packed up and moved across the country to live with family. That is exactly what we did. We moved from Denver, Colorado to Cleveland, Ohio which allowed me to stay at home with Kailtynn and provided all the therapies she needs for her condition.
Once we arrived in Cleveland we had to do the doctor thing all over again. More hospital stays and more specialists to add to her care. The good thing is that the doctors all agreed that Kaitlynn had a chromosome disorder but they too could not prove it was causing all her symptoms. They again said we need to play the wait and see game. As parents you feel so helpless with that answer. You feel like your child is a ticking time bomb and no one can help you. I prayed and prayed for GOD to send someone my way that would give me answers. Or give her doctors insight to help her. Kaitlynn is now 2 years old, cannot crawl, walk or eat. She has global developmental delays, low tone, poor eye sight, and seizures. Thankfully she has responded to seizure medication and we have those under control.
After researching the internet looking for help, I received an email from the Medical College of Georgia. They were conducting a research study on the balanced chromosome translocations to identify the causative genes and we qualified to participate in this study. I was so happy that my prayers have been answered. Finally someone was interested in our daughter’s condition and they had some answers I was longing to have.
The researcher I communicated most with was a human molecular geneticist Hyung-Goo Kim. He has been performing research on balanced chromosome translocation for over 10 years from the labs of Dr. Hans Hilger Ropers at Max-Plack-Institute of Molecuar Genetics in Berlin and Dr. James Gusella at Harvard Medical School. He made himself available to me 24/7. He even invited us to fly down and visit the lab and offered his home for us to stay in. We did just that. This trip was one of the best trips we have taken. Hyung -Goo Kim answered questions that several of Kaitlynn’s specialists would not. Hyung -Goo Kim said he is convinced that all of Kaitlynn’s symptoms are caused by a gene at one breakpoint in her balanced chromosome translocation and his goal is to uncover the exact genes that are affected. He explained that the process may take a year or two and the more people he could get involved to participate, the better the outcome will be.
This brings us up to date now with our daughter. We are now in the research phase and I ask any parent that has a child with a balanced chromosome translocation to please participate in the research that is being done at the Medical college of Georgia in Augusta Georgia. All that is requited is a blood sample. And the researchers are there for you to answer any question you may have. I want to thank Dr Laymen and his lab for giving our family hope that someday we may know exactly what is affecting our daughter.
~ Michaelle Zavoda
Oh, and did I forget to mention that Kaitlynn will soon be a big sister! To follow Kaitlynn’s story and learn more about her condition, please visit her on Facebook: