About Katy

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

{ 84 comments… read them below or add one }

Pauline May 14, 2010 at 4:46 am

Hi Katy and family,

You have made a great website!
Go on like this!
Love to hear, see and read about you guys.
Hugs to Katy!

Love,
Pauline & Roeland

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Todd May 14, 2010 at 8:23 am

Thanks Pauline and Roeland! It’s always great to hear from our friends in far off places. It’s amazing how the web can bring everybody together. Trying to do a better job of keeping everybody updated on Katy’s progress! Thanks for taking the time to check in on our little girl.
-Todd

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Marcia Behr July 23, 2010 at 10:24 am

Hi Katy & family!

Great work on the website, Todd! I’ll get you some video of Katy in music therapy. She’s AWESOME…and so is her family.

Love to all,
Marcia

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Veronica August 23, 2010 at 4:18 am

Hello. I did not realize that chromosome deletions on chromosome 6 were so rare! Very interesting! My grandson actually has a deletion and duplication on 6. His Karotype is: 46, XY +6p25.3p22.2; -6q27; +9q34.4
Will definitely be reading up on your blog to learn more! Thanks for sharing!
P.S. – We’ve also been told how unique our lil guy is too!

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Todd August 23, 2010 at 9:33 am

Veronica- Thanks for checking in with us! It is definitely rare, but I wonder how many undiagnosed cases are out there. Best of luck to you, to little ‘Renzo and to the whole family!

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Phillipa Senior July 8, 2013 at 1:10 am

Hi! Our wee grandson was four months old yesterday. He has primary congenital glaucoma, aniridia (only has half the iris in his eyes), and an atrial septal defect (hole in the heart). We are waiting for results from his blood samples which have been sent overseas to determine the reason. Our two older boys have a history of glaucoma and the second one ( the father of our grandson) was a heart baby with an atrial septal defect also. The pediatrician has said that it may be a 6P deletion that has come down through my husband’s side of the family. This is the first time we have ever heard of it!

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kirsten March 26, 2014 at 5:46 pm

Your comment has me curious on your child. I’m 7 months pregnant with a baby girl that had a 6q27 deletion and 6q23 duplication. They said they have no info on there two put together. How have you handled and what is your child like?

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Todd March 28, 2014 at 10:12 am

Kirsten-
While our experience with Katy probably won’t match your little one, I would highly recommend you look into joining the Chromosome 6 Facebook group. It is invitation only. You might search for Elizabeth McPherson to make sure we get you involved. We have more than 500 members in that group all dedicated towards supporting each other with issues stemming from any problems with Chromosome 6.

Todd

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Katie Walter September 30, 2010 at 1:01 pm

Hi Todd,

My son is special needs also Im soo greatful for my son I understand what katy is going through my son doesnt walk or talk either but his neurologist said that he has brain malformation so i dont know what is really wrong with my son. Im greatful for first steps they are a wonderful program. I was wondering if you could give me any insight about anyother therapies I could try for my son. Katie Walter

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Todd October 1, 2010 at 8:03 am

Katie-
Can you let me know what therapies you are currently using – or have used – with your son? Our Katy has been through a number of different styles of therapies over the past four and a half years, but I also know there are many, many more available. Some of these we have friends who have tried, so if you’re interested in anything specific please let me know.

Thanks for visiting with us!
todd

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Rebecca October 14, 2010 at 8:41 pm

There is a website that MIGHT help bring you together with others who have the same diagnosis as your daughter. It’s called Band Back Together and a girl put it together because her daughter was diagnosed with an Encepholide (spelling?). It’s rare. Anyway, she wanted to put together a website where people with rare things can tell their stories in the hopes that they will find more people who have the same diagnosis.

You have a great website here. Thanks for telling her story.

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Todd October 14, 2010 at 9:30 pm

Rebecca-

Thanks so much for the information! We’ll check into that. The way I look at it is you can never have too big of a support system.

Thanks for visiting,

todd

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maby December 14, 2010 at 10:20 pm

hi: my daughter too have 6 but duplication and she is doing great progress with the therapies and had been told by therapist she is on the label as a normal kid but some time I dont know how will her future be and dont know other similar situation to compare any help will be greatly appreciate

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Todd January 18, 2011 at 10:21 pm

Maby-
So sorry we haven’t replied to you sooner! Please feel free to ask any questions you have.

How old is your daughter? How has her duplication affected her so far? Let me know however we can help, even if it’s just to listen. I completely understand what you mean when you say you don’t know any other similar situations to compare it to. I’m not sure there are any.

Best wishes to you and your family,

todd

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Kris September 5, 2013 at 12:41 pm

We were jsut told yesterday that our son has a duplication 6q26x3. I know these comments are older but we are looking for any info about it and anyone who has a similar diagnosis. So many questions and there is so much unknown about this.

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Todd September 20, 2013 at 2:16 pm

Kris-

We completely know what you’re feeling. The best place to get questions answered – or at least discussed – is on the Chromosome 6 group on facebook at: https://www.facebook.com/groups/chromosome6/
It is a private group that is being managed by Elizabeth McPherson. You will learn more about chromosome 6 issues there than you will from any doctor.

Todd

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orla gilmore December 31, 2010 at 5:50 pm

hi my daughter jody has chromosome 6p21.32 33367581-d 33396200 she is the only child in the world with this deletion she cant walk r talk orla

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Todd January 18, 2011 at 9:50 pm

Orla-
I’m just getting around to replying to a bunch of people who have commented on the site over the holidays. I’m so sorry it’s taken me this long to reply.

I hope Jody is doing well. We’re all kind of flying blind when it comes to these deletions. Please let me know if I can be of any help to you or to Jody.

todd

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MARIA LEON February 7, 2011 at 2:57 pm

HI IM MARIA A 20 YEAR OLD GIRL I HAD A BABY ABOUT 2 YEARS AGO HE ALSO HAS THE CHROMOSOME 6Q DILISION HE DOSENT EAT BY MOUTH HIS GROWTH IS TO SLOW.. WELL HE HAD ALREADY 3 SURGERYS AND 1 COMEING UP. IF U COULD CONTECT ME ON MY E-MAIL IS LEONMARIA1990@YAHOO.COM WILL LIKE TO TALK TO U SOMETIME….

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Todd February 15, 2011 at 2:56 pm

Maria –
I sent you an email today. Get back to me when you can.

Todd

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Anonymous November 27, 2011 at 1:31 am

Todd hi my name is India and I have a friend named Kathryn she has cerebal palsy hers is worse than your little angels she can’t talk when I first met her she could not walk good at all I would love to come meet you your wife and Katy I want to see her legs because I really don’t care what the doctors say just email me back at norwoodindia98@gmail.com so I can help I seen her video on YouTube I have 3 friends with cerebal palsy but just tell your wife about me and we can go from there

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Anonymous November 27, 2011 at 1:35 am

I want to help he walk 🙂

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claire requa May 15, 2011 at 6:29 am

Hi Todd, my heart goes out to you and your family. And the other families with similar challenges. ( have also had serious family challenges)
I came upon your site thus: I was out doing my walk yesterday, and saw a great line on a T-shirt (your line). And thought how great is that? It just reminds, reinforces and encourages me to live my life fully. I thought I am going to do a mirror product with that quote. Then I thought I better check that it’s not “out there” – and saw that it’s a Nike quote, and that you had written it. I’d like to credit you, and include information about Katys situation with my mirror product and/or make a contribution from the sale of the mirrors if that’s ok with you. Let me know what you think. best, claire

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Faye May 17, 2011 at 5:24 pm

Great going Katy: My grandson was diagnosed one year ago at age 5 months with 46, XY, deletion (6) q13q14. I’m not quite sure about the 2 at the end of Katy’s 14. My daughter is single and the two of them live with me. When Riley was born, he was perfect and as my daughter was trying to nurse him in the hospital; I felt his left jaw pop. It couldn’t be TMJ I thought. Two days later; our pediatrician had him in the office and made an appointment with a University of Missouri Cranial Facial Surgeon. Riley was immediately diagnosed with Hemifacial Microsomia. Then of course one of the causes of this deformation is a genetic disorder so with two months my daughter had the chromosome deletion diagnosis. Riley didn’t turn over until 6 months, didn’t crawl until 9 months, didn’t stand in his crib until 13 months and just started to cruise about 8 weeks ago. He doesn’t talk but he can say “mama” and he calls me “nonya”. He just started throwing bad tantrums where he will slap himself aside his head, or throw his head backwards and has even started to butt his head against any object. He was just examined again by the geneticist and Riley is starting the First Steps program in a few weeks for PT and OT. Riley will see his cranial facial surgeon in one month as the geneticist just informed us that his skull plates are fusing too soon. We are not sure what will happen there except we know there is no room for his brain to grow. Riley does have other abnormalities but none you would ever be able to see. Nobody can believe he has any problem. He’s a very happy child and is a joy to have around us. I would like to hear more about Katy since she is older than Riley who was born in November 2009. Katy sounds like a wonderful child.

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Jolene June 15, 2011 at 1:30 pm

My son was just diagnosed with Chromosome 6 deletion last week. I am still looking for information about this disorder. Would you know anywhere to turn or any support groups? Thanks.

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mike August 12, 2013 at 11:38 pm

My daughter of 2 1/2 was diagnosed with chromosome 4 and 6 having parts missing were told she is the only documented case with this the only thing I can say is she doesn’t talk or walk but is improving with theropy 5 days a week pt ot speech whatever we can get but the best thing is hippotheropy with a horse and get a walker for them one they pull from behind and never give up no matter what anyone tells you no doc knows what your child will do every one is different in there own way you will neef time for your self as it can become overwhelming dont be afraid to cry or just ask someone to talk just take one day at a time I use to work but now stay home to care for my daughter as my wife works it was easier for me to deal with everything so you do whatever it takes dont let anyone tell you different if you need to talk you can call anytime 224-243-1877

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alissa July 6, 2011 at 11:46 pm

We just learned that our son has a 6Q deletion as well, 14.2-15. Can you email me at alissahansen (at) me (dot) com. I’m looking for information and finding very little. I’d love to hear more of your personal stories and challenges, it would be very helpful.

Thanks,
Alissa

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Birgit Solheim February 4, 2012 at 4:27 am

Hello Alissa.
We were very happy to find this website. It shows us that we are not alone in the world. Your short description looks very much like our daughter.
She has Chromosome6 deletion q14 and q15. As far as we know (until now), she is the only one with this deletion.
She is almost 24 years old, and was diagnosed when she was 12. We live in Norway.
If you want to be in touch, contact us at ja-so(at)online(dot)no.
Our daughters lifehistory is complicated, but maybe you want to hear about it anyway?
We have learned that even if the deletions are similar, the result may vary very much.

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Matt Kline July 11, 2011 at 5:28 pm

Hello everyone. I am the proud parent of David, an 8 year old boy with chromosome 6q deletion 23 to ter., an issue as everyone known makes every doctor look at you as if you do not know what you are talking about because, simply, they do not know. Certainly makes us an expert in our own field, wouldn’t you say? With genetics, you can’t really tell what will happen, just be observant ant treat the symptoms as they come. Davids mother had a balanced translocation between 3 and 6. I am working on a theory that this genetic nightmare began due to the introduction of a chemical reaction from dioxin (agent orange) from Davids Grandfather in Vietnam.Curiosity, does anyone else have a similar issue? God bless n stay strong.

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Shannon August 12, 2011 at 11:39 pm

Would love to talk to you sometime, Matt. My daughter is now almost 4 months old now and has a terminal deletion beginning at 6q25.1. She feeds now by a GJ tube due to a tight upper esophogeal sphincter. So frustrating and scary to have only read so far of the TERRIBLE outcomes for 6q deletions. What a blessing at this late hour here tonight to find this website. We live in CT – where are you from?

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Matt Kline March 11, 2012 at 7:11 pm

Im sorry it took so long to respond and I can only hope you get this. Feel free to email me at chrome6q@yahoo.com.

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Natalie August 20, 2011 at 12:15 am

I stumbled across this page when researching deletion on the 6th chromosome due to my brother’s very recent diagnosis..
My older brother is 17, and he was born with a somewhat unique(nothing severe) facial features. He had noticeable but also non-severe developmental delays regarding speaking, and has seen speech therapists since a young age. He is also autistic, and this seems to worsen as time goes on. (he was originally diagnosed at age 10-12ish with Asperger’s syndrome but as his anxiety and social abnormalities worsened over the years, he was recently re-assessed and found to have high-functioning autism).
After the doctor found a heart murmur recently, he decided to test all of my brother’s chromosomes to check for genetic disorders. As it turns out, the “long arm” of his DNA was deleted from q24.2 to q25.1. Basically, this deletion is responsible for his slightly “unique” face, his heart problems, and if there is an alteration of the matching copy of his EPM2A gene (which cannot be tested for at this time), he will have a degenerative seizure disorder that will cause his brain to lose control of his muscles and ultimately shut down. The only way we will know if this alteration is present in his DNA is if he actually starts to have seizures, which would signal the end of his life, and unless that happens (God forbid it does), we will be uncertain forever as it could occur at any time as we understand.
I just want you to know that your little Katy and her website are very inspirational and I wish you the best! She is a doll and I’d love to hear more about her progress in the future.

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Jamie H. September 9, 2011 at 7:59 pm

I just wanted to tell you, don’t give up on her. I was also born with a form of chromosome 6 deletion. I was extremely tiny when I was born and face a lot of health issues along with 17 food allergies and numerous medication allergies. It took doctors 17 years to diagnose me with anything and my mom was actually told by one hospital that I was a hypochondriac and not to come back until I died on the table one day and they had no choice but to figure out what was causing all of my health problems. I had significant growth delays and was 3 foot 2 inches from the age of 2-12 and told I would be a dwarf when I finally started growing again. I also have learning disabilities and epilepsy which causes slight memory issues. I did have speech problems but they weren’t as severe as your daughters. I had a lisp and was able to learn sign language easier than I was speech. I had mobility issues but not initially. I learned to walk, then twice lost the ability and had to re learn.

The good news is that though I have health problems I don’t let that stop me. I am now 23 years old, I have been in college 4 years and actually graduated today with double honors, earning a degree in American Sign Language Interpreting and plan on graduating next quarter with an Associate of Arts degree and plan to further my education from there. I don’t have any bad habits like smoking or drinking because I don’t want to make my health any worse than it is however, others may not agree but I believe I live a relatively normal life. I drive, I visit friends, I am able to get a job as long as I make sure I get adequate sleep as well and actually got my first job at age 11. Another adjustment I have to make is for pain due to muscular skeletal abnormalities. Doctors have told me many devastating things. For example, they said that I would be in a wheelchair the rest of my life and I am not. Teachers told my mom when I was young that I would never learn to read. In the 7th grade, I began to read. You just have to live it day to day and I am doing, for the most part, just fine, I just have to make minor tweaks to my life and always keep in mind that a trip to the hospital every few months is likely but don’t give up on your daughter. If she puts her mind to it, she can do anything. I wish you the best Katy, You can do it! =)

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Veronica November 27, 2013 at 11:27 pm

Jaimie. Thanks for sharing that. You are a determined, highly spirited individual and perhaps a little light of hope for many.

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Daniela Utescher September 29, 2011 at 5:28 pm

Hi, Todd!
congratulations for the website, congratulations for your daughter… she’s wonderful!
I am a brazilian mother of a little beautiful girl with the 6q terminal deletion (6q25 -qterm). We’re doing your family’s steps: trying to discover, day by day, the best way to estimulate our dear Teodora.
I decided to leave a comment here because I wished to let you know we discovered an amazing method of fisiotherapie, called Cuevas Medek Exercises. Have you ever heard about it? Teodora spent five months in an Intensive Care Unit when she was born, she depended on oxigentherapie until now, has an gastrostomy tube – because is not able to eat -, and until 15 months couldn’t even stand her head. Then, researching, we found this method, and since she started made incredible progress in motor skills habilities. In december she will be three years old and she’s now beginning to walk.
If you can, take a look at http://www.cuevasmedek.com.
I’m sorry about my English. I don’t practice for a long, long time. I hope you could understand!

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Janelle December 2, 2011 at 8:35 pm

Thank you for creating this website. Our 10 month old son was just diagnosed with chromosome 6 deletion between q21 and q22.1. This is the first website I came across in looking for more information. I would love to hear from you if you have any more to share.

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Todd December 13, 2011 at 8:08 am

Janelle-

I apologize for not getting back to you right away. Life seems to be getting in the way a lot these past few months. I hope you’ve discovered the facebook chromosome 6 group. If you haven’t let me know here and I will get you in touch with them. In the meantime, if you have any questions, please e-mail me directly at oswald.todd (at) gmail.com

Best of luck to you and your son. It has been a long journey for Katy and all of us, but it has been worth it – every minute of it.

todd

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Dimeka Cutler January 6, 2012 at 5:21 pm

I understand your pain completely. When I was pregnant with my second child, a girl, her name is Leyah. I had some bleeding complications that couldnt be diagnosed, so I was given an ultrasound that showed my unborn daughter had a brain defect called Cerebular Hypoplasia. I was around four months pregnant at this time. My husband and I were very discouraged at this point because we didnt know what to expect. At 37 weeks I had to be induced because amniotic fluid was very low. My Leyah was born June 11, 2009, it was then the pediatrician told us that Leyah had a heart murmur and also that her head was small. So within the next few weeks we saw the cardiologist and neurologist. The cardiologist diagnosed her with Tetralogy of Falot which was corrected by surgery in November 2009. The neurologist diagnosed her with Microcephaly, a small corpus colesum, and cerebular hypoplasia. About a month after heart surgery she saw a genetics doctor who gave us the answer to what caused all my daughters’ problems. They told us she had a rare chromosome disorder, which was terminal deletion of Chromosome 6. My daughter is now 2 1/2 and she is getting play, physical, and occupational therapies. She has seizures but they are well controlled with medicine. She wears eye glasses and leg braces. I have never talked to anyone who has a child with this condition and its nice to finally meet someone who has been through some of the same things.

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Todd January 10, 2012 at 1:56 pm

Dimeka-

I’m glad you found us! Hopefully, you’ve also made some other connections through the wonders of the internet and social media. Like I tell most people who have found us, there is a large (and growing larger) family of us on facebook that many of us use as our support system. It’s the Chromosome 6 group moderated by Elizabeth Preston McPherson. Please introduce yourself to her and join the group. There are many, many of us in this thing together.

Hopefully, we can help you to go from never talking to anyone with a child with the same condition to talking with hundreds!

Best wishes for you and Leyah,

todd

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Maija Annala January 8, 2012 at 2:58 pm

Oh my God..
At first, I hope you understand my not-so-good English!
I can´t stop crying. I´ve been watching those videos on Katy´s website and I can´t understand what just happened. I have a daughter, 4 years old, with chromosome 6 deletion. When she had her diagnose 1,5 years ago, I was told there is known two other children in the whole world with this deletion.

We live in Finland, far away from your home, but thanks to internet, everything is possible. 🙂
I would be more than thankful if you read this and write me back!

Best wishes,
Maija and my daughter Helmi (Helmi is a pearl in English, and she really is!)

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Todd January 10, 2012 at 1:51 pm

Maija-

Your english is great! I’m glad you found Katy’s site. I haven’t done a great job in keeping it updated lately. Life has been moving way too fast with our now almost seven-year-old little girl.

There is actually a growing presence of Chromosome 6 deletion families on facebook that I would highly recommend you look into. You, like us, were told that there was almost nothing out there for us when Katy was born. Well, we’ve got more now than we did! The facebook group is simply called “Chromosome 6.” It is a closed group but Elizabeth Preston McPherson handles most of the people entering. You can contact her as well.

We’re all facing different issues and problems; but it is nice to know there’s a whole group of people out there all looking to support each other.

All the best,

Todd

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olga January 20, 2012 at 9:18 pm

Hi there! I just found out about my daughter’s chromosome partial 6 deletion! I know nothing about this:(! and would like some more info on this please. I don’t know what will be of my little girl in her future?!
You have a great website here
Hope your little one is doing great;)

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Todd January 23, 2012 at 9:04 pm

Olga- I’m happy to help in any way that I can. (Probably won’t be much, but I can sure try!) You’ve obviously already found me on facebook. I’d encourage you to also get in touch with my wife, Michele Stika Oswald, as well as Elizabeth Preston Mcpherson. Elizabeth kind of heads up the Chromosome 6 group on facebook. It is by far the easiest way to discuss the issues that we face. There is also a great list of all the known karyotypes for all of our children.

Don’t feel bad about knowing nothing about this. None of us did before we ended up here. Most doctors don’t know anything about it either. We just all do the best we can.

Please let me know if there’s anything else I can do to help.

todd

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katherine shaw January 31, 2012 at 5:39 am

I have asked to join group on facebook, no joy as yet 🙁 How else can I contact you to chat about C.6 deletion? Many thanks.

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Todd January 31, 2012 at 6:45 am

Hi Katherine- Got your e-mail. I’ll send you a personal reply in a few minutes!

todd

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Renee Rutledge January 29, 2012 at 8:36 am

My daughter Michelle was also born with a malformed 6th chromosome. Part was deleted and part was duplicated. Not clear what part. Michelle is now 24 and lives on her own. She was born missing her right ear and canal. Middle and inner ear are fine and she has a cocleor implant. Calobomas in her eyes, her retna detached when she was 15 and now has a buckle holding it in place. She has limited vision but enough to get by. She also was missing a bone in her thumb and has joint problems. She also was born with an Ariel Septral defect in her heart which required surgery when she was 2 and 1/2. She was recently diagnosed with Celiac disease and is also Lactose intolerant. She also has severe endometriosis. I did not find out about the 6th chromosome until Michelle was 18. She has had several operations to correct the birth defects and is not completed as of yet. She did not walk until she was 4. Michelle learned to skate, ride a bike and has been downhill skiing for the last 11 years. It has been challenging but the struggles she has overcome gives me great joy. Feel free to contact me if you want more info about what you may be faced with in the years to come.

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Todd January 31, 2012 at 6:44 am

Renee-

Thank you for letting me know about your daughter. Michelle sounds like an incredible young woman. I appreciate the offer to contact you! I’d also invite you to make some contact with the Chromosome 6 group on facebook at https://www.facebook.com/groups/chromosome6/

Thanks again,
todd

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Birgit Solheim February 4, 2012 at 7:58 am

Hello
Thank you very much for making this webpage. We have felt very distressed regarding our daughter Kristin’s chromosome disorder, and then suddenly we found this page with all of it’s stories.
Kristin was diagnosed at the age of 12, with chromosome 6 deletion q 14-15. We were told she was the only one in the world registered with this, and at that time it was probably true. At the same time we received a description of a family in Canada with varying rearrangements of chromosome 6. One of the women had many similarities with our daughter, but it turned out to be both translocation of chromosome 15, and deletion on chromosome 6 q 14-16. Today Kristin is almost 24 years old, but mentally she is about 1-2 years. She is the size of a 12 year old, and weighs only 36 kg.
It’s been a rough journey for her, and us. She has organ malformations on the heart, kidney and brain. In addition she is autistic, and has a bipolar disorder.
We saw one of the submitions on this page, from Alissa on the 6 of July 2011, that her son has the same disorder as our daughter, and we wish to hear more. We signed on Facebook and are looking forward to hearing more.

Best regards
Birgit and Jan Solheim

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Todd February 7, 2012 at 10:56 am

Birgit and Jan-

Thank you for letting us know about your story. I’m glad you were able to get in contact with Elizabeth on facebook and join our ever-growing group there. There are so many families that have had much tougher times than we have – and to be honest, even with all of Katy’s medical issues, we’ve had it pretty easy. The best thing about the facebook group is it does offer a support system all the way around the world.

Thank you again for posting,

todd

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Amanda Miller February 24, 2012 at 7:16 am

Hi Todd – I would love to speak with you as our daughter also has a delation in her chromosome 6 and we really do not know what this means. Any advice would be great. Our daughter is 4. Look forward to hearing from you.

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Todd February 24, 2012 at 9:54 am

Amanda- Happy to talk with you! Glad you found us. As you might be able to tell from looking through many of the comments on these pages, there is an ever-growing group of C6 families out there. Our main mode of contact at this time is on facebook with the Chromosome 6 group that you can find here: https://www.facebook.com/groups/chromosome6/ If you’re on facebook, the easiest way to gain access to this invitation-only group is to contact Elizabeth Preston Mcpherson and introduce yourself. She handles the invitations and introductions there. You can also find me and my wife on facebook as well, if you’re interested. I’m on simply as Todd Oswald and my wife is Michele Stika Oswald. If e-mail is easier for you, you can contact me at oswald.todd (@) gmail.com.

Hope this helps!

todd

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Sarah Roach September 12, 2012 at 1:43 pm

hi my name is sarah and my daughter bryleigh will be turning 6 on friday. I ave left the dr. office about an hour ago where I was just read the results of my daughters 6thy chromosome deletion. At this point i am more confused than i was when i was asked to do the chromosome array panel. at the moment i have no idea whats going on and i would love to hear more about your case.

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Todd September 12, 2012 at 3:20 pm

Sarah-

Every one of us who has left the doctor’s office with this diagnosis has had your reaction. We actually had more information than our geneticist did at the time.

There are so many variations on how these deletions affect our little ones that it can become very, very overwhelming very, very quickly. If you’re on facebook, that has become the main way for us c6 parents to support each other. The main group is here: https://www.facebook.com/groups/chromosome6/

It has become enormously helpful in a very short period of time. I highly recommend joining us there.

Elizabeth McPherson is the main moderator for the group and can make sure you’re added to it. You’ll find vastly more information, including other families that are dealing with (more than likely) the same deletion you’re facing.

I hope this helps and my family wishes your’s the very best. Please feel free to contact me at toswald (@) gmail.com with any other questions I can help answer.

todd

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Nicole September 24, 2012 at 11:46 pm

Hi Guys,
Just wanted to wish you all the best with young Katy, she certainly has put up a fight and will continue to do so with such strong parents!
My son Xavier is about to turn 4 in a week, he was born after a lng 71hr labour and with his cord around his neck 4 times, apgars were good and he began breathing quickly, however over his first day of life he constantly vomitted mucous, refused to feed an failed to pass meconium, he also has a noticable facial palsy on the left side, long story short he was diagnosed with Hirschsprung’s disease (bowel) and eventually a 7th cranial nerve facial palsy (making breast, bottle and solid feeding all an impossible to painful task) and a heart murmur. Xavier had major bowel surgery at 5 weeks of age, he was due to have it at 3 months but the lack of weightgain brought the surgery forward, and instead of the planned 2-part procedure (one to biopsy and remove diseased bowel and give a stoma, the second to close stoma and reattach anus to rectum at 2-3years of age), he had one single surgery to remove his bowel and give him a new bottom. Everything went well and Xavier didn’t require the expected week in ICU afterward, though in excruciuating pain as you can imagine. He gained full use of his bowel and aside from 6 months of painful special cares he was fine. Xavier went through infancy without any major issues aside from blinding colic and some aspiration issues alongside asthma and constant bronchial infections. As time progressed Xavier began to hit milestones but always stuck out as being ‘different’ to other children, especially with three cousins born within two months of each other there was obviously something ‘slow’ about Xavier. He didn’t stand or walk until 19 months of age, and over the next year it was becomming increasingly apparent something was going on. Eventually Xavier was diagnosed autistic and intellectually impaired, being mentally 12-18 months when he was 3.5years old. He had hearing loss and severe sleep apnoea, had his tonsils and adenoids removed as well as grommets put in. He has very poor vision so wears strong glasses and we also put distortion drops in one eye in lieu of patching (sensory issues) to try to avoid more surgery for his turning eye. Xavier has unfortunately had zero bowel control and a leaky gut, meaning he goes 4-12 times a day with no mental ability to tell me he has gone. He has very low muscle tone and mobility issues, as well as no spacial awareness and major sensory issues, so he stims a lot and is also very clumsy. In the last 8 months he has gone from being nonverbal to speaking about 120 words. He also has what I believed were “absence seizures”, 10-20second periods where essentially the lights are on but nobody is home, so underwend an EEG, not epilepsy but some funny brain waves associated in some way with his developmental delay, though of course I never had it explained to me. He has also had another round of exploratory bowel surgery as well as 2 MRIs, one for the diagnosis of the facial palsy and a second to see what is going on in his brain, the second was 4 months ago and still I am waiting to speak to the neurologist, though the paediatrician tells me nothing was found, I have trouble trusting her understandably after years of ignorance and disappointments! Howver a couple of months ago we underwent a second round of genetic testing after initial testing in infancy showed no geneitc markers for his conditions back then. The results we have for his test are a 6p21 deletion, though of course I can find no information on, and what I do find seems to read as a book of his fathers’ family medical history, though we are still waiting for mine and his fathers blood to come back from the lab. So we are at the beginning stages of a definitive diagnosis, and with four years of battling frustrating doctors we may finally have some answers, though I know they won’t tell us much… The red flags for 6p21 that I am aware of are kidney and heart disease, muscle issues, cancers, reproductive issues, ear and eye issues, mental impairment and associated disorders as well as a bunch I can’t quite recall, but apparently the likelihood of puberty is quite slim. But so far so good, Xavier attends the special school one day a week and has weekly speech, physio and OT, and I also take him to the naturopath, of which we are about to start the GAPS diet on top of his current elimination of egg, dairy, wheat and soy.
I know no one ever knows what the future holds, and as you say 6th chromosome issues are proving to be extremely rare, so it is, for lack of a better word, nice to relate to another family, and it is absolutely wonderful that you have shared yours and Katy’s story, it really is appreciated to have a glimpse into your lives as well as relating to your experiences and, as we special needs parents do, bounce ideas off of each other. I wish you and your family all the best now and in the future, and a life of happiness and blessings for Katy.
Thanks again,
Nicole.

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Anonymous January 2, 2014 at 6:57 am

Hi,
Our son Declan was born with very little skull bone and various other issues. We initially received several different diagnosis all of which were outcomes we’re not expected to be good. They did. It expect Declan to live as they initially thought his bones were going to collapse and crush his organs. However he has amazed us all and is now 12yrs old. When he was around 7yrs old we got the diagnosis of deletion of gene 6p21. Although it was good to get a diagnosis confirmed it doesn’t really mean much to us as his condition is still largely undiagnosed and very little is known of what to expect for Declan. Doctors can only say that we must look to Declan for diagnosis then as he develops conditions we point it back the way to the deletion. The deletion appears to be something that has just happened and there is no history from my husband or I. Declan is doing way better than we could ever have hoped for and has made great progress over the years although I do know that as he reaches puberty we could be expecting more problems. He is a happy boy, he has learning difficulties, autism, wears hearing aid, has problems with muscles in his legs, a heart murmur and is short stature. He still has a large gap in skull bone on the top of his head but it has grown considerably. We haven’t used any medicines or had any operations (although that may change soon), our consultant didn’t want to try things when we didn’t know what we were dealing with and we so appreciate his advice as others wanted to try all sorts. We chose not to wear a helmet on Declan which made it a bit more difficult for us to protect his brain but it allowed the skull bone to grow and not be restricted. We turned him three hourly through the night packed either side so the bone would grow evenly and he had to be fed through a special bottle then anyway. Declan walks and talks fine but is mentally very young and vurnable, he does however have a great personality and makes me smile every day (makes me cry sometimes too). It is all still very much unknown for Declan but as the doctors say, we used to have to take each day as it came, then it was each month and now it’s each year. We are very lucky to have him. We went on to have his sister and she is in perfect health and although she is a couple of years younger than Declan she is very much the big sister both physically and mentally. She adores him though. We have too beautiful, wonderful kids. I hope things progress as well for you as they have for us.

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Josie Gallienne September 29, 2012 at 6:27 am

Hi,
My son also has a chromosome 6 deletion (6q16.1-21), and a few health professionals are now querying a diagnosis of cerebral palsy. Did Katy have an MRI to doagnose this, or was it based on clinical observations alone. Is a clinical presentation of cerebral palsy linked in any way to a chromosme 6 deletion? Thanks for sharing
Josie

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Cheryl Olver October 10, 2012 at 5:43 pm

Hi,
I would just like to applaud you on helping to bring everyone together like this, I never would have imagined it possible when my daughter was born 21 years ago. My daughter Kirbie also has a deletion on 6q, however, information is limited, as analysis/diagnosis was not as advanced at the time of investigation. I intend to find out more now having read these comments. I would also like to communicate with others who have 6q deletion familiarity

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Mélisa January 8, 2013 at 9:37 am

Hello, I live in France, my 4 year old son also has a deletion 6q14
good luck

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Mindy Hubert January 27, 2013 at 1:59 pm

Hello,
My 6 year old daughter also has 6q deletion syndrome. We live in Ohio. Like you we have very little information. Our daughter was diagnosed when she was 9 months old.
Today, our daughter has severe multi handicapps, including cognitive and physical. She also has a feeding tube, failure to thrive, extremely poor tone causing her to rely on a wheelchair. About every year she continues to decline in health. Recently our team of doctors has referred her paliative care,( like hospice).
Like you, we have very little info. Our research indicates there are 22 others in the world,(not necessarily the exact break) but on chromomsome 6. It seems most of the other patients are located in Brazil and a few in Italy. I believe our special girls are the ones in the U.S.
I am very curious to know how your daughter is progressing. When you have time, I hope to hear back so perhaps we can compare how close our girls’s symptoms are.
Much Hope to you,
Mindy

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Denise Braxton January 29, 2013 at 4:09 pm

hi I came across your story whilst again searching for information relating to my niece who also has a rare chrom 7 deletion ! Bobbie is now nearly 4 years old and weighs 14 pound (very scary) . We as you say feel pleased at times we dont know what the future hold but at times like this when we feel desperate we crave answers. If anyone reads this and knows of a place or person anywhere in the world that can help us please contact.

I know your story was written some time ago and I do hope your darling had improved and keeps well !

Regards Denise Braxton

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tammy February 8, 2013 at 1:39 pm

Hello, my grand daughter also has a q6 deletion , she is such a wonderful little girl she has a problem with her muscle tone and her looks are affected though she is beautiful
… her eyes hearing and her lungs …so far. as she is only two yrs old ….I had never heard of this before . I am glad to know there are people out here who care enough to say what there children are going through!!! it helps people like my self who don’t have a clue!!! so thank you . and I hope your little girl is doing well . tammy

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Mia and Luke February 11, 2013 at 9:12 pm

Hi, we are about to have our first baby and just yesterday at 28 weeks + 2 days we were told that the amniocentesis results showed that chromosome 6 and 20 were abnormal. Baby also has a small cerebellum which now has stopped growing and large amounts of fluid in the brain. We are both so scared and have no idea what the future holds.
It’s nice to read these stories and hold onto some hope.
Thank you

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Adrienne March 15, 2013 at 3:55 am

I am keeping Katy & your family in my prayers. My son will be two years old in April & we were given the news of his chromosome #6 & #10 in December 2012. He has made progress because he too had low muscle tone or muscle control. He too just last February was diagnosed with myoclonic seizures. Prayer & loving family support will get us through whatever he needs. But if you ever wanna talk just send me an e-mail for more contact info. It helps to know people who are going through the same thing. 😉

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Wole March 16, 2013 at 5:50 pm

Thanks to everyone comment on this, I have a girl of 2 month now with the same problem. Iam afraid of what will happen in future.

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amber May 27, 2013 at 1:05 pm

I understand completley. my sons chromosome 6 deletion is very large. we found it early but since no one knows how it will affect your child finding it early means nothing. my son couldn’t smile for over a year and just started laughing at almost 2.

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Todd June 10, 2013 at 12:12 pm

Thanks for your comments, Amber. I haven’t posted on here for a while, but Katy has made some amazing advancements this past year. Hope the best for your little one.

Todd

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Diane July 16, 2013 at 8:23 pm

We are just starting the process with our granddaughter Angie who is 2 1/2. She has chromosome 9 deficiency. We have been told what she has, but not what to expect or how we can deal with it. It seems like the blind leading the blind, but we are all pushing hard for answers. Angie has very low muscle tone and cannot speak, after intensive physiotherapy at 2 1/2 she can now sit up and is starting to crawl. We are managing to teach her sign and if I say lift up your foot to put on a shoe then up comes the foot, so I feel there is something there, she is a beautiful child and so happy – we just want to know what is in store for her, but no-one will tell us, so we are treasuring every moment we have.

Diane

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Todd August 2, 2013 at 12:39 pm

Diane-

I wish more information was available for all chromosome deletions. As far as the blind leading the blind, you’re pretty much correct. It’s been the hardest thing for my family to deal with over Katy’s earlier years. The “not knowing” what to expect. We still don’t have a great idea of what the future holds for Katy, but she’s made improvements far beyond what we ever thought would be possible for her after our early years.

We’ve tried to make sure that we balance therapies and play as much as we could at all times. I won’t say we completely succeeded – sometimes things worked and sometimes they didn’t – but on the balance, I think that has made all the difference in the world.

todd

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marie August 6, 2013 at 2:32 am

hi,
our little 2 year old foster child has just had a diagnosis of deletion of long arm chromosome 6, he sounds a lot like your little girl, we are waiting to speak to genetics so haven’t much info yet but he loves music and hums certain tunes over and over, speech is limited to 3 words- that we can understand we are hoping it wont affect his adoption and that someone out there will love him as much as we do (cant adopt him ourselves )

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mike August 12, 2013 at 11:42 pm

My daughter of 2 1/2 was diagnosed with chromosome 4 and 6 having parts missing were told she is the only documented case with this the only thing I can say is she doesn’t talk or walk but is improving with theropy 5 days a week pt ot speech whatever we can get but the best thing is hippotheropy with a horse and get a walker for them one they pull from behind and never give up no matter what anyone tells you no doc knows what your child will do every one is different in there own way you will neef time for your self as it can become overwhelming dont be afraid to cry or just ask someone to talk just take one day at a time I use to work but now stay home to care for my daughter as my wife works it was easier for me to deal with everything so you do whatever it takes dont let anyone tell you different if you need to talk you can call anytime 224-243-1877

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Lisa August 21, 2013 at 12:53 am

We have been going through genetic testing for my soon to be 17 yr old and found the he has a partial deletion of his 6 chromosone. We still don’t know if his delays are attributed to these deletion, but we do know it was maternally inheritted and test has started on my 11 yr old son today. His issues are not like his brother but they are half siblings through me. So frustrated that this is an under investigated issue and I pray for some sort of normal life for my son.

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Andrea September 12, 2013 at 8:25 pm

Hello! My little cousin is 4 years old and was diagnosed yesterday with chromosome 6 deletion. I was so happy to find your website! I am trying to learn as much about this as possible.

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Todd September 20, 2013 at 2:15 pm

Andrea-

Glad you found this. As you can tell, we haven’t updated here in awhlie – not because nothing has happened. In fact, just the opposite. Katy’s improvements have left us little time to devote to writing!

For the most up to date chromosome 6 related information, please look into joining the Chromosome 6 group on facebook at: https://www.facebook.com/groups/chromosome6/
It is a private group that is being managed by Elizabeth McPherson.

Todd

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What host are you using? Can I get your affiliate link to your host?
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Kerri October 14, 2013 at 11:03 am

Hi, my son was diagnosed in May 2013, with a c6 deletion, actually 6q22.1q22.31. He just turned 2 & of course this road is a scary one to be on. But I have joined a few groups on Facebook & they do seem to help out with some of the questions I have. And just to hear from others how this has affected their child. I know it affects each child so differently, but it still gives some glimpse of the future. I first seen your website back in May when we first found out, so Thanks to you for sharing Katy’s story, it has been a big help. I also joined “Unique” based out of the UK, they take donations & such for research, which I have donated already, as this is something we all need to do to help all our blessed little ones.
Thanks again Todd for your information you have shared. And best wishes & prayers to your family & little Katy.
Thanks,
Kerri

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lizzie November 3, 2013 at 5:03 pm

hey its lizzie this is a awesome website see ya soon

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Veronica November 27, 2013 at 11:12 pm

Thank you for this. My 1 year old has microdeletions on 6q22.31, 7q31.31and10q11.21. Global delay and many similar things as your daughter.he is our fourth and although he has bee thru endless tests I think he has rare disorder as well. Thanks.

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Margaret February 16, 2014 at 4:23 am

My son Marcus has a deletion of chromosome 6. Can’t remember the karyotype is though. He will be 11 in April. He has a number of health problems and a mild to moderate developmental delay. He has improved so much. Last year he was luckily enough to dance over in Disneyland with his dance school. The hardest part with him is not knowing what to expect. Marcus is on growth hormones due to his short stature and has finally started growing. We are pretty fortunate that he is only mild and it has been just over a year that we haven’t had any real issues with his health.

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Anonymous March 27, 2014 at 1:25 pm

my daughter Emma has an extra 6th chromosome she is 4 years old and will be 5 in july. She is unable to walk on her own but she is a supported walker she walks with a walker. she too also has a speech delayment but we haven’t gaven up hope on her she also receives ot, speech and physical therapies and is in school now it has helped her a great deal prayers to your family from mine.

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Todd March 28, 2014 at 10:15 am

All of our best to Emma!

Katy walked with the help of a walker for a long time. I believe it was essential for her to develop the leg strength that way before she could do it on her own. However, she still will ask for her walker if she’s going to be walking in areas without places for her to grab on to for long periods of time.

Don’t forget, Katy really didn’t walk or talk until she was seven years old. Then, it was like things just clicked for her. I hope the same for Emma!

Todd

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Raquel Murillo April 22, 2016 at 2:10 pm

My daughter is 22yrs. old and just 2yrs.ago DX:With q22..deletion syndrome n duplication syndrome.. She has several repetetive duplications..she was tested by several Geneticist and put in medical journal under anonymous name her choice..according to them she is longest living person with both syndrome..She is also verbal has autism ADHD very mildly retarded and several other problems immune system etc .She was walking with crutches n loss of balance but last year had stem cell therapy on her brain.. Very blessed she can now walk without crutches or cane.She recently started having angina n is getting treated for that.I wish n pray that more doctors can be educated on these syndromes n research and mandatory DNA testing on everybody will be done.I can’t afford to be tested n am pretty sure it came from me due to fact both my Mom n Dad had DNA mutations also I have 3 other kids who have never been tested they all have severe allergies..my daughter also has epilepsy as do I and another son was born with seizures but after 3 mos.on anti seizure med. Was seizure free..my kid’s age from 28yrs.old 27 22 n 18 yrs.I believe if we were all tested it would benefit every family living with deletion n duplication syndrome.I believe there is so much that can be learned to help all of you and your loved ones thru research and knowledge..just like ignorance about epilepsy continues so does ignorance about these DNA syndromes if my daughter goes to Emergency room 2 things happen they have to go n look it up bcuz they never heard of the DNA syndrome or she gets the poor child you are dying pity look.Also mentally all the labels people assume things such as a GP who told me so Your daughter is retarded..yes but what’s your excuse! Can you install stereo n set up DVD..are you an artist..can you hack into computers.. Can you win prize for shooting marksmanship.. Can you drive a race car n win?Now she is studying to design video games n is a great photographer…Well..guess what my 22yr.old daughter ..can..so have faith..hope.n remember everyone’s body is different..don’t let doctors try n fit your child into cookie cutter of what is normal?Challenge them..and never stop fighting for more answers and solutions to them..God Bless you All..Fight the Good Fight In my Prayers and In My Heart..My daughter’s middle name is “Angel” She is a Fighter

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Raquel Murillo June 27, 2016 at 4:34 pm

Just curious my daughter just turned 23yrs.old is and has always been very verbal was diagnosed with both deletion and duplication syndrome..just this year had brain stem cell therapy which helped a lot even though her immune system still building up.She has 3 other siblings never been tested or myself or exspouse..believe this could help other families also Good bless Katy n pray for continued research

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Leida July 11, 2016 at 7:49 pm

i just found out my son is missing Part of Chromosome Number 6 But its a Tiny Pice , today me and The doctor talked he explain Everything So well I Feel a Little Relief, The next Step is Test my Fist son Who has Autism To see From who My Baby Inherited The Gene.

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Vittore Massaro July 27, 2016 at 4:06 am

Me and my son have a quarter addition to chromosome 6. I have no major issues but he sadly has autism and is extremely aggressive. I hope you find a cure one day.

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