Katy’s Story

by Todd

Katy was diagnosed with a chromosome 6 deletion when she was three years old.

We always knew our little girl was one in a million.

We just never quite realized what that really meant.

Katy was born March 5, 2005, appearing to be in good health except that both of her hips had been dislocated due to the stress of a breech position in the womb.

On her fourth day in this world, doctors fit Katy into a Pavlick Harness in our first attempt to get her hips to work back into place naturally. Each month, we moved up to more and more significant braces with the hope of a non-surgical solution. By June, her right hip had settled into it’s socket. Her left hip had other ideas, though. In July of 2005, when she was just five month’s old, Katy underwent an open reduction procedure to repair her left hip.

After three long months in a cast that stretched from her bellybutton all the way down to her ankles, doctors expected our little girl to immediately begin to roll and crawl. None of this happened. Eventually we brought Katy in for an MRI of her spinal cord and her brain to see if there was a neurological reason for her lack of movement and development.

While we were there, it took doctors and nurses more than two hours to get an IV in our little girl that day. She has never been the same around hospital personnel since.

About a year after her surgery took place, Katy – now one-year-old – began speech, physical and occupational therapy through the First Steps program in St. Louis. She still could not sit up on her own and had no mobility. She had trouble eating, could not speak and could not pick up small items without help. We were still working under the assumption at this point that Katy was just delayed due to her surgery and the cast that kept her immobile for three months.

On March 2, 2007, however, all of that changed. Michele (Katy’s Mommy) took Katy into see her orthopedist for what we believed to be a routine check-up. It was at this appointment that the doctor, after working with Katy for a few minutes, asked Michele how she was dealing with the diagnosis of cerebral palsy. Somehow, while we were never informed of our first neurologist’s initial diagnosis for our daughter, our orthopedist was. It was a devastating day for us. Unfortunately, it was also only the beginning of a whirlwind third year of Katy’s life.

In November of that year, Katy underwent her first electroencephalography (EEG) – a test that measures and records the electrical activity of her brain. Before we were home from the hospital for even 20 minutes, our pediatrician called to inform us that Katy showed evidence of seizures and we needed to see a neurologist immediately. (We found a new one, by the way.)

Eventually we discovered that the test – while abnormal – gave no real evidence of actual seizures. As almost an afterthought, Katy’s neurologist decided we shouldn’t wait any longer to order a major blood test to determine if there was some sort of genetic deficiency. By this time, we had already seen a geneticist at Cardinal Glennon Hospital and received tests back – all negative – for a number of different genetic issues. The test Katy’s neurologist was ordering was a complete analysis of her chromosomes.

So back to the hospital for more blood tests we went. On March 8, three days after her third birthday, test results confirmed that Katy suffers from a deletion on chromosome 6. Her official karyotype is 46,xx, del (6) q13q14.2. What this means in simple terms is that a part of chromosome 6 has been wiped out between sections 13 and 14.2. What this means in terms of Katy’s future… no one really knows.

On March 25, at a meeting with genetic counselors at Cardinal Glennon Hospital in St. Louis, her official diagnosis (from cerebral palsy) was changed. After hours and hours on the computer, we are in contact with only one other living person with this exact defect. We have found evidence of possibly three others in the world right now from a number of medical journals going back to 1972. All of these articles merely report on conditions and symptoms. We know of no doctors in the world currently doing research into this deletion. In total, we know of approximately 85 cases in the world right now of deletions anywhere on chromosome 6, with 75 percent of the cases existing on the long arm of the chromosome.

In short, we know basically as much about Katy’s condition as her doctors do.

Katy is now five years old. She still can not walk or talk although she has made significant strides in the past year. Evidence suggests that her deletion affects only her voluntary muscles. Along with the physical, occupational, speech and music therapy sessions she receives at the Early Childhood Development Center, we have also found huge improvements by using swimming therapy and horse therapy on a weekly basis.

Katy’s use of music therapy has made a profound change in the way Katy communicates and in the way Katy’s teachers communicate with her. Tests have shown us that Katy focuses nearly 350% better – on almost anything – when it can be done to music. Since this was discovered, Katy’s vocalizations have improved by incredible amounts. The little girl that screeches or grunts still comes out every once in a while in frustration; but more importantly, Katy actively tries to imitate language with us now. Her teachers have taken to singing questions to Katy instead of merely asking them.  While Katy still communicates using sign language, or what we’ve always referred to as “Playing Charades with Katy,” we are now concentrating on developing her spoken language skills as much as possible.

Today, we are still in the process of discovering where Katy’s condition will lead us in the upcoming years. It’s both a blessing and a curse to have no historical basis to go on. On one hand, we have no preset ideas of what she can’t accomplish; but we also don’t know what will work best.

So she, her three brothers and one sister, will just keep working towards whatever comes our way.

Updated May 13, 2010

{ 8 comments… read them below or add one }

Tabby Searcy December 24, 2010 at 2:00 pm

Hello, my name is Tabby Searcy I was amazed and felt a little relief all at the same time when I read your story… my son was born May 18, 2010, his name is Triston Searcy, I found out through fetal maternal testing in 1992 with my first child that I myself have unbalanced translocation. that child was a still birth. Triston has a deletion of chromosome 6q partial trisomy syndrome and 18q partial monosomy syndrome, he has feeding problems, ebsteins anomaly and renal hypoplasia, vesicoureteral refux. I am very interested in talking with you guys!!! We had genetic testing on Triston when he was born, doctors say, “He is on uncharted waters”… I have so many questions for his future, he has feeding issues right now, he is 7 months old, and weighs 11lbs. Did katy weigh her recomended weight at her age? Right now docs say they dont know what he cogantively will be untill we start hitting milestones, he is in line with first steps right now to get physical therapy and occupational therapy the first of the year. We are currently just keeping close watch on his heart and kidney docs with regular checkups and monthly blood tests. Our peditrition has tried to find a support group in our area but has not been able to find anyone… will he be able to walk, talk, what will his life be like? I know these are same questions and concerns you have been through, so good to know you have a beautiful child who looks and sounds like she is progressing, thriving, your family has been blessed as mine has also. We have 6 children total Triston being the youngest. Thank you for your time, I hope your family has a Merry Christmas. God has blessed both our families!!!!

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Todd January 18, 2011 at 9:48 pm

Tabby-
I’m so sorry we haven’t gotten back to you before this! Answers to your questions above: Katy was a little small at birth and remained under the 10th percentile in both weight and head circumference for about the first four years of her life. After that time, she has moved more to the norm, but we still have problems with keeping her weight up. Katy has always had feeding issues. Right now, we’re at a point where she can feed herself, but we have to be very careful because she will simply start putting food in her mouth with no thought to how big it is. We constantly worry about choking with her.

Katy has had kidney reflux and has had to have surgery to keep urine flowing back from her bladder into her kidneys. She has regular heart exams, as well as brain EEG’s too.

Unfortunately, I don’t have any answers I can give you with little Triston; but I do know that Katy has been unbelievably special to everyone she has come across in her short life. I truly believe a big part of our ability to thrive as a family has been because of our large family. I hope that holds true for you as well.

All the best to you and your family. And again, I’m so sorry it’s taken me this long to get back to you.

todd

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Tabby Searcy December 24, 2010 at 2:02 pm

p.s. I know your family is busy, but my husband and I would like to leave our cell no, 660-973-2029, thanks!!

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Katy August 17, 2011 at 5:30 pm

Please visit the King Institute at http://www.kinginstitute.org They may be able to help. Blessings, Katy Vega

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Kristina Bentley June 15, 2012 at 5:33 pm

Dear beautifull Katy and family,
My name is Kristina, my husband is Sebastian and we live in Tenerife.
On dic 1st 2010 our little girl Lucia was born. She came allong a month early so was only 2.475 KG on birth and had to wear a type of harness for 3 months because her hips were not mature. During her first week of life, I was breastfeeding her, she lost weight, to our fright became dehidrated and we very nearly lost her. I lost my Mom 4 years ago and had no one to really advise me. In the hospital, the pediatrition noticed she had very long, thin fingers, slightly allmond shaped eyes, and varios others that made them think that there was something not quite right. It turned out that she has a karyotype 46,xx, del (6) q13q15. Nearly the same as your little girl. As for medical assistance it´s quite difficult here on the Island. We take her every Tuesday to the capital city where she receives 1 sesion of ocupasional therapy and 1 sesion of phyisio therapy. The rest of the week I take her to a private centre closer to where we live where she has 1 physio, 2 ocupational therapy and we have now started with speach therapy. She is now 18 months and can sit herself up since last month. Now she is happy swivelling around in a circle on her bottom without colapsing. Slowly slowly we are seeing progress. She can´t yet crawl but she does a comando style pull herself allong a little bit. We are working on the crawling. As for speach, she is making noises and says mama at everything or tatata. Not much more at the moment. As for her feeding this has always been vey difficult. When she was 3 moths old we ended up in hospital again because she just wouldn´t feed. She would just cry. I was expressing milk because she couldn´t manage to suckle. It seemed she just didn´t want the bottle in her mouth. We now had a tube in her nose for the next 3 months. After this they said it would have to be a tube into her stomach. We have managed to get her to feed off the spoon and avoid this but, every feeding time can be a struggle. She will only take smooth food, if she gets a lump this will make her be sick. She is so sensitive, she can touch something lake a banana and be sick. I am so glad to have found your story.
I would love to hear more about Katy and how you are all getting on.

Sending you very kind regards from Tenerife.
Kristina, Sebastian and Lucía

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Jagoda November 25, 2012 at 12:25 pm

Mieszkam w Polsce. Moja córka urodziła się z del(6)(q13q15). Chciałabym o tym z kimś porozmawiać. Pozdrawiam.

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Hershal Byrd, Jr. February 26, 2013 at 2:42 pm

Dear Katy and family,
When I read the story of what happened to Katy, it has strongly inspired me. I really never heard of Chromosome 6 Deletion. When I read about Katy, It reminded me of how I got diabetes, type one and autism. I received a ruebella vaccination back in 1971, which was the main cause of many babies getting diabetes and autism. At the age of two, autism began. The vaccination was said to have killed many brain cells affecting our social development in being able to reason with people and understand them, too. At the age of three, type one diabetes began. The vaccination was also responsible for killing ninety percent of the beta cells, which are responsible for making insulin.
My name is Hershal, I am forty-two years old and live in Fredericksburg, Texas. I have lived with Diabetes for thirty-nine years and autism for forty years. I am very independent and take a very serious interest in people with autism and similar disorders like Katy’s Chromosome 6 Deletion. I have a great deal to learn about this disorder and am grateful if I can be of any help to answer any questions about autism or how it affects people since both disorders are similar to each other.

Sincerely,

Hershal Byrd

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Rebecca March 13, 2016 at 5:36 am

Hello, I am the mother of a very special little boy named Houston. We just got our microarray back last week and he has 2 deletions, a duplication and an AOH. One of his deletions is 6p25.3. When I found the unique article the first picture and several in the article look identical to my son, and he has all of the main features of 6p deletion syndrome, including dandy walker. We are hoping to see genetics this week for an official diagnosis, but we would LOVE to connect with anyone else dealing with this!

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