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
My son was born on May5, 2009, has been diagnosed with Chromosome 6 deletion. He has had delayed milestones and has, ever since his birth needed occupational and physical therapies to develop a milestone. He can walk and run awkwardly and he does not have autism, however, ever since his birth he has had one kidney 85% functional and the other 15% functional, he is hypotonic, which means his body is in a state of abnormally low muscle tone. He attends special education is school and what we have noticed is that he has a lot of difficulty with mathematics and even planning for logical sequences. He is very social in nature, loves to take care of younger kids in pain. He is very comfortable in using gadgets like ipad, etc, he can do his school lessons if these are in ipad compatible forms, so he gets tasks from school to work on STMATH, etc. When he was diagnosed with chromosome 6 deletion at CHOC hospital about 4 years back, the genetic had mentioned that nothing can be done about it and this is something even medical science does not have much detailed research analysis on it as yet, and we could not get a convincing answer as to what future holds for him, except that nothing to worry about. Todd, would also like to thank you for putting up this first ever informative website on chrom6del…..Anurag
My Daughter has GDD and is caused due to apparent interstitial deletion in the longarm 6 From 6q13.3 to 6q22.2.
She can walk, medium fine and gross motor . Trying but frequent failure in potty training. Orally very weak. Any suggestions please.
I also have a little girl with no 6 deletion sindrome. She has a delay in speech and so i m stugling with potty train. Advice please.
My daughter has a chromosome 6q14.2-15 deletion she has had major issues from this she has SPD autism bilateral hydronephrosis. She has had 12 surgeries to correct the hydronephrosis and her eye and teeth issues. She’s been on medication since birth.
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What caused her deletion?
My daughter is 20 months, and we’ve recently received results that she has a 6p22.2 deletion among some other abnormalities. Her main issue is her hypotonia and feeding issues. Her geneticist said this exact deletion isn’t documented anywhere in his literature, so now he’s sent us to genetic counseling for a full come sequencing of the whole family. Her brain MRI showed no significant abnormalities. She’s currently in Early Steps also, receiving speech, PT, OT, behavioral therapy, and special instruction. She has a neurologist, orthopedist, developmental neurology clinic (5 specialist assessment 2 times per year), endocrinologist, geneticist, genetic counselor, ENT, and the good old pediatrician. I feel like I’m forgetting a few… She’s about to be sedated for an ABR due to some hearing loss concerns. She is walking but everyone is shocked. She does still have head lag and fatigues very quickly. She sleeps about 15-17 hours out of the day at least and has her main nutrition from Pediasures. She has difficulty chewing and swallowing. She also still drinks from a baby bottle, which I hold for her as she cannot do it herself. Feel free to email me. Thanks.
Our daughter Katie has loss of information on chromosome 6, specifically 1.6Mb within cytogenetic band 6q27 and a variant of uncertain significance in the GRID1 Gene. I have taken her to all kinds of specialist since she was a toddler but no one could really pinpoint the issue until we had genetic testing done.
Hi Michele,
I’m 36 weeks pregnant and my baby girl was just diagnosed with a 1.6MB deletion of her 6q27 chromosome. Unfortunately, the doctors don’t know much about this particular chromosomal abnormality and couldn’t give me any information as to what to expect in the future.
I would be very grateful if you could tell me more about your daughter and how the deletion has affected her.
Thanks a lot in advance!
Katya
Hi my daughter also has the same 6q27 deletion. She was born at 36 weeks 1 day by c-section weighing in at 4lbs 5 oz because the doctors were worried that she had hydrocephalus. So after loads of tests scans and a mri doctors tolds us she had 6q27 deletion. As a result of that she has a gross and slight fine motor delay she also has a partial agenesis of the cropus callosum, colpocephely. She has been doing therapy since she was 4 four months old. she is now a happy and heathly 3 year old who still goes to pt ot therapy twice a week. She also started special needs preschool this January and is loving. She has met every milestone but on a delayed schedule she walks and talks and we have been working on potty training for about a year now she is making progress. She is now 3 years 2months and is functioning at least 6 months behind normal peers. As of right now the only effects on a daily basis is she has low muscle tone and hyper-flexible joints she is extremely clumsy and has poor balance she falls often leading to lots of injuries. She has a poor immune system and gets sick easily and often sometime leading to hospitalize. Due to her flexible joints she wears ucb in her shoe to support her weak ankles which has helped to reduce her falling. If you need someone to talk to please feel free to message me thanks
Hello! I am the proud (adoptive) mother (I only clarify because I want you to know why I won’t know some answers to questions you may have) of twin girls with a 6q27 deletion. Leily and Lilly turn 15 this August. They currently attend a special school and receive speech therapy, occupational therapy, and physical therapy. We do an additional round of PT weekly to boost focus on strength and balance. The girls are sub 70 IQ but very bright and social. They can speak, but with difficulty, and they cannot read or write (other than their first names). We are, praise God, seizure free. This last year we have noticed an increase in falls and joint pain and are working with neurology and orthopedics to pinpoint the source of the concern. They are fairly independent in every day living, and we are working this summer on kitchen skills. Our girls were day potty trained at 8 and night potty trained by 10. I am happy to answer any questions.
We are just finding out about this. My grandson may have this. He is very thin, autistic. Waiting for more tests. Worried. Tried to join the Facebook group but I am a bit technology challenged.
I am 11 years old and my sister who is 12 years old was adopted from China on February 14th 2006. When she was three years old, she was delayed in various mobile activities and was so far, nonverbal. My parents were told to expect some delays because she had been in an orphanage for the first 10 months of her life. It wasn’t until she had her first seizure, that my parents visited a neurologist to get some answers. That was when she was diagnosed with Chromosome 6 Deletion. To this day she is nonverbal but is able to walk (usually with assistance), has basic hand-eye coordination, and is the best sister in the world. I have no idea what our lives would be like if she had all 46 chromosomes, but I would give my life for her happiness. I was relieved to find so many other cases of Chromosome 6 Deletion, to know that we are not alone. Thank you.
I am a teacher for families of infants with hearing loss, and one of my children was just identified with Chromosome Deletion 6p Syndrome. Th family speaks Spanish, and I am hoping you can direct meta resources in Spanish for them. Thank you very much for any help you can offer.