Our little peanut, Kylie Carlson, born June 8, 1998, is now 14. She was born two weeks early because the doctor was concerned she was not thriving. Her Apgar tests were normal. However, we found out that she had not stopped growing— it was just that she was growing slowly because of her disorder.

When Kylie was not hitting her milestones, we sought help when she was nine months old. After seeing every specialist possible, a geneticist was our last hope. Although we were told by the doctor that she did not anticipate finding anything, they proceeded with genetic testing.

Two weeks later, I was called by the doctor to tell me that Kylie remarkably had chromosome 13q deletion syndrome and was missing the band of the arm of the chromosome of q14.3–q22. The internet was just beginning to be a powerhouse tool at that time. However, finding information on this disorder was almost impossible. Two years later, I started a website for chromosome 13 deletion, so that others could find us. There is strength in numbers!

For the next few years, it was all about therapy. Kylie did not ever crawl and walked at the age of two and a half years old. Not crawling ended up being a real delay for other important skills in life: Kylie did not understand gravity and could not do basic skills like skipping, jumping jacks or crossing the body midline. With her low muscle tone, we were trying everything from physical therapy, private gym classes and Karate (as she got older) for focus. A challenging part of chromosome 13 deletion is  for most of the children, they grow very slowly. Even now– Kylie is 14 and just hitting 59 pounds and 53 inches; she is just barely eligible to transfer out of a car seat.

When she was a toddler, there were always unexplained things she would do that I never understood. While playing, she would line up cars in a straight row. She would grind her teeth. She would “collect” rocks and sticks in the school yard. She would cringe at the sound of loud noises. After an evaluation with a specialist, we found out she had obsessive-compulsive disorder (OCD) and sensory issues. Most likely, her nervous system was compromised by her loss in the band of chromosome 13, which was just now re-evaluated, and we found out that she is actually missing q21.1–31.1. We have come realize, the science of determining millions of DNA is a very difficult thing to diagnose.

We are currently trying medication, in combination with therapy, to help with her OCD, but it is a struggle. Because of this disorder, she hoards everything: paper, food, toothbrushes– it is unlimited. Also, because of her nervous system being sensitive, she is overtly anxious. The way she counteracts this is by rubbing her clothes until they have holes in them. She ruins clothes daily.

Due to the medication she is on to alleviate her hoarding and to help her focus, she has trouble with eating. She is hungry all the time, which makes her hoard food. It is a never-ending cycle with no end in sight. She also has trouble reading because she is unable to track letters and words. Academics do not come easy for her either, because of all of her challenges. Her speech has a nasal sound to it– almost like a toddler. We have been to dozens of specialists, but we are still perplexed why she does this. She attends speech therapy in school.

She has an amazing sense of humor and a passion for animals. And we are very thankful that she has not shown any signs of seizures, hearing loss or many other possible medical issues.

 

41 thoughts on “14 Years Old And Barely 53 Inches, Kylie Lives With Chromosome 13 Deletion Syndrome”

  1. lisa says:

    hello ……I am Alessia Diamante uncle……she has the same problem with food…..she is 8 years old..

  2. Tina says:

    Hi, My 9 mt old baby son has the same deletion. Would like to connect with you if possible. Thanks.

  3. Linda Stephens says:

    My 3 month old grand daughter has been diagnosed with this. I don’t see any apparent physical differences between her and any other baby. She does have difficulty sucking. I am just looking for answers for something I know nothing about

  4. Kelli Ely says:

    My 7 month old daughter has a 13q deletion. I have scoured the internet looking for parents of children with the same deletion. Please contact me. I would love to talk and keep in touch.

  5. Kelli Ely says:

    Tina, I hope you receive this message. My daughter has a 13q deletion. I would love to talk with you. my email is kzoller1@gmail.com You can find me on Facebook at https://www.facebook.com/kelli.z.ely

  6. Kenja Phillip says:

    Hi my Name is Kenja in my son has this same disorder also He’s five years old. In is very small. I was looking for some support group. And also so good resources for him as well

  7. Hi my name is Kenja in my son has this same disorder He’s five years old in is very small. I was looking for some support groups about this. And also.some great resources for him as well

  8. Tina says:

    My son is 16mts and has 13q deletion (13q21.33-31.3). There is a site on facebook, Chromosome 13 family that I joined which has been a great support. http://www.facebook.com/groups/chromo13family/ Hope you can connect!

    Tina

  9. Leslie says:

    My son has 13q21.3 involving a gene known as KLF 12. He was born at 26 weeks gestation.. He is 10 and just hit 50 pounds… He has difficulty with textures of food.. And never wants to throw anything away..

  10. 1Brittani says:

    My niece has the same disorder. Please contact us we would love for her to meet kids that are just as perfect as she is.. Plus. We have lots of funny stories . She is 1

  11. Brittani says:

    Correction … She is now 11 years old

  12. brooke says:

    my son is two and has partial deletion of chromosome 13. email me please bfeagin91@gmail.com

  13. brooke says:

    my son also has this. please email me bgeagin91@gmail.com

  14. brooke says:

    please contact me bfeagin91@gmail.com

  15. Michele Schubert says:

    Oops! I posted to FB by accident!
    I stumbled onto this page, and it is awesome! My son also has this disorder, and at 19 years old, stands 63 inches tall, and weighs 89 lbs. He is non-verbal, but communicates very well with an Ipad and Proloquo… He also has epilepsy and an autoimmune disorder. He is ambulatory, but has had alot of surgery on his legs and hips to keep him on his feet. In spite of it all, he is the happiest person I have ever known! I would love to swap stories or answer questions for any of you that wish to contact me. You can reach me via email at: Scrap-spaz@sbcglobal.net

  16. Gemma Monday says:

    Hi just come across this site my 5 year old has 13q deletion 33.2 -34. He had intellectual disability and has difficult behaviour. Im interested in sharing experience with othet 13q parents

  17. hanna says:

    Hi I am an ei therapist. One of my clients I work with was just diagnosed. I don’t know much about it but curious if you could give me some tips and ideas of stuff to do with my client to helpt him. He is 12 months. We do a lot of sensory activities but if you have more ideas would love the help. Thanks

  18. Monique says:

    Hello,

    My son has just been diagnosed with 13q Deletion (31.1-32.1) he is 2.5 years old, and just hit 21 lbs. Just looking for other families that have experience with this.

  19. kathy says:

    hi I have a beautiful grandson born with 13q deletion.He is missing band 32-34
    He is now 7 has been walking for about 12 months., hasn’t used he’s wheel chair for about the last 4 months. He is non verbal but can understand everything that he hears .He communicates by some sign language and his ipad and he has a talking device he is learning. He goes to normal school. He has no behaveral problems. He also has CP

  20. Denise Davis says:

    This is my third child… My doctor told me yesterday one of my tests come back as defect as this disorder ask for further testing when I did my research I couldn’t do nothing but cry.. I’m a single parent and I am only 32weeks this is ready tough… What my child life would be like???

  21. Monique says:

    Your child will be so very happy to have you as their mother, and 2 other siblings to love! My son has a chromosome 13 deletion. He may have a different path then his sister, but he is truly and amazing little guy! He is very calm, down to earth, and easy going. He does have other health conditions such as Kidney failure. And isnt much in for verbal communication. He is very small, and has this weird thing with food. I see you posted this comment in November, and hope all is well with you and baby.

  22. Nicole says:

    Hello. I’m Australian both me and my son have chromosome 13. I’m fine except for some facial defects. And my son has chromosome 13 as well. He has a heart defect with his chromosome13 but we’re both doing well. All though my son a a few more problems then me. He has speech delay. And has bad behaviour.

  23. Linda Stephens says:

    What deletion do you have. My grand daughter has 13qdeletion. What heart defect does your son have. When did your parents know you had this syndrome? Did you have delayed development? I have too many questions!!

  24. Randi says:

    My daughter has the same deletion. She is 15 and it sounds like she is a lot like Kylie in many ways. She is not hitting puberty and now gets her period. It is so difficult to deal with because she doesn’t understand why she is bleeding. And sometimes refuses to wear a pad. She doesn’t get cramps because she doesn’t actually purduce eggs. I’m not sure how old Kylie is now or if she has a period but if she does do you have any advice on how to deal with it?

  25. Melanie Tustin says:

    My son was born 2 days before kylie and has a deletion of 13 as well sensory and speech are problems also caused a brain malformation. Would love to be in contact with people with children that are affected.

  26. Monique says:

    My son has deletion on chromosome 13 Q31.1-32.1.

    What deletion does your son have?

  27. Nicole says:

    I’m not sure what delegation of chromosome 13 he has got. But he has now just been accepted into a special needs school

  28. Betty Morlan says:

    My daughter has 13q-syndrome she will be 39 years old in January. She problems with behavior. It kills me to see her this way,because we had to place her in a home. I cared for Dawn for 34 years at home till the family became worried about the safety issues. We get her home as often as we can.

  29. nicole says:

    My Best Friend’s daughter has the same issue dealing with her period, so they decided to put her on birth control. She gets a shot every couple months and typically doesn’t get her period. The only negative is she has put on a lot of weight and they are starting to become concerned.

  30. Jody jenkin says:

    Hi my daughter is 17 and has been diagnosed 3 years ago with chromosome 13q12.3q14.11 deletion still very new to us would like to hear more from other families with similar story just looking for information and support.
    Thanks Jody

  31. I have twin Daughters both with the deletion as well as RB. Your Kylie is identical to my Kylee. Her twins name is Kaylee (lol). As they get older I’m am seeing more and more struggles that they will be facing for the rest of there life. I would love to talk more about our unique however very similar stories. My twins are 11.

  32. Jody jenkin says:

    Hi my daughter Maddy is nearly 18 and I also worry about the future for her. Her diagnosis is autism and we only found out three years ago about her true diagnosis and would love to be in contact with parents going through similar things just wanting to know more. We are waiting for a review appointment with the genetic s department as we are seeing more issues with her health and just looking for knowledge.
    Hopefully we will talk soon
    Jody

  33. Hi we are bringing up my niece, Leanne is almost 13 and we have Just been told she has 13q21.1, we were initially told that she had Vater syndrome and have been fighting for answers for year’s, now we have the answer I’m not sure what to do with it. It would be great to talk to anyone who can shed some light on what this means and maybe someone out there has the same deletion.

  34. Hi all! I am the Mom to Kylie and she is now 18. I have a parents ONLY support group on Facebook if you would like to join! https://www.facebook.com/groups/cwcarlson/. I also have a page on Facebook if you would like to follow…https://www.facebook.com/Chromosome-13-Deletion-279388602133486/

  35. Hi I am the Mom to Kylie and she is now 18. I have a parents ONLY support group on Facebook if you would like to join! https://www.facebook.com/groups/cwcarlson/. I also have a page on Facebook if you would like to follow…https://www.facebook.com/Chromosome-13-Deletion-279388602133486/

  36. Hi I am the Mom to Kylie and she is now 18. I have a parents ONLY support group on Facebook if you would like to join! https://www.facebook.com/groups/cwcarlson/. I also have a page on Facebook if you would like to follow…https://www.facebook.com/Chromosome-13-Deletion-279388602133486/

  37. Hi all! I am the Mom to Kylie and she is now 18. I have a parents ONLY support group on Facebook if you would like to join! https://www.facebook.com/groups/cwcarlson/. I also have a page on Facebook if you would like to follow…https://www.facebook.com/Chromosome-13-Deletion-279388602133486/

  38. L.Hickey says:

    Hello! There is a facebook group for CD13 kiddos … some are older, some are younger:

    https://www.facebook.com/Chromosome-13-Deletion-279388602133486/?fref=ts

  39. Jody – I saw your request to join the group. However, I need to talk to you first. I tried to friend you on Facebook but you are not responding. Here is my profile…
    https://www.facebook.com/profile.php?id=100011429721815

  40. Hi all! I am the Mom to Kylie and she is now 18. I have a parents ONLY support group on Facebook if you would like to join! Please friend me on my profile for approval. https://www.facebook.com/profile.php?id=100011429721815

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