My daughter Amanda has a genetic deletion (monosomy) on chromosome 15 (q21.2-q22.3). When she was first diagnosed in 1999, there was very little information on her syndrome. We were given one article starting with “There have been only four reports of deletions in the more distal 15q2 region, 2-4 all involving severely handicapped infants.” Looking at the chart, two had passed away by their third birthday. Discouraging news for new parents.

Amanda not only survived her third birthday, she thrived. Although her development was delayed, she continued to grow and remain healthy. She started walking at 5 1/2. When tested at age 10, her development was on par with a typical 2-year old, causing her to be classified as “severely delayed.” Still she was progressing and, most importantly, she was healthy and happy.

However, we have been alone this entire time. We have never met anyone with a similar chromosomal deletion. There are no support groups when you are one of six known cases of a disorder. There are no marathons for financial support. No special T-shirts or car magnets. No one to talk to.

Amanda’s life has been a series of unknowns. Will she walk? Will she talk? Will she need surgery for this or that? Without a network of other families, we’ve just had to wait and see, always hoping for the best. I worry because the ages of the survivors in the paper we were given were 15 months, 14 years and 18 years old. The article came out in 1990. The oldest would now be forty. I hope they are all well, with happy and fulfilling lives. But there is no way of knowing.

Recently I’ve noticed what seems to be a slight deterioration in Amanda’s overall health. It is nothing serious, but enough to concern me. For instance, she had several clonic/tonic seizures (grand mal). I wish I had someone who had been through this before me. Someone who could say,”it’s okay- it’s just part of the syndrome sometimes.” But I don’t.

I’ve always considered Amanda one of the lucky ones because she survived infancy. I assumed that if she made it past that critical period she would be more or less fine. Now, I’m starting to wonder what to expect. I wonder how those other survivors are doing. What are their lives like? Do they have the same symptoms? Have they had the same surgeries?

I’ve been on a quest to find other survivors. I was thrilled to find two with close chromosomal deletions. One is a boy with a nearly identical deletion. Happily, he is also 13- and luckily he has far milder symptoms. He is walking, mainstreamed in school and very healthy. Encouraged, I realized that where there was one there might be another. I researched every rare chromosome group I could find on the Internet. I believe that I have located four more individuals with a similar deletion. That brings the number of documented instances of this particular chromosomal deletion to eleven!

I have no idea how old these children are or what they have been through. I’ve been able to get some contact information, so I’ve reached out to them. Hopefully they will respond. I hope I hear from the other families. I hope we can share stories and provide support for one another. I am so grateful that we are not alone anymore. Maybe we can get T-shirts or host a marathon someday.

59 thoughts on “Are We Alone? Daughter with Genetic Deletion on Chromosome 15”

  1. Alysia Bell says:

    Love this as I feel we are in a similar situation with our daughter who is six. She has a partial deletion of chromosome 15. She also has 2 other abnormalities which are rare. Praying for you and your family!

  2. angel Mcdaniel says:

    I have a son with chromosome 15 deletion he is only 5, b does not talk and has behavior problems

  3. Samantha says:

    Hello,

    Me and my father have a chromosome deletion on 15q21.2.
    I search other family’s with the same deletion, because we are the only one.
    They dont know anything about it.
    I am 33 and have 2 children.
    They dont test my children yet.
    I hope you will contact me.

  4. Samantha says:

    Hello,

    Me and my father have a chromosome deletion on 15q21.2.
    I search other family’s with the same deletion, because we are the only one.
    They don’t know anything about it yet.
    I am 33 and have 2 children.
    they don’t test my children yet.
    I hope you will contact me.

  5. Rosanna aiello says:

    I have custody of my grandson who has partial,monosomy 21 and is going to be 7 this September, has a lot of delayments and has seizures and has been diagnosed with having autism also,does not speak and just.recently started walking .any support of help out there would be greatly appreciated.

  6. lidia mendez says:

    hello i Have a son thats 8 years old he has a deletion o chromosome 15

  7. Kumudha Ramanathan says:

    My daughter who is 33 was just diagnosed with partial deletion of 15 chromosome .
    I would love to communicate with
    Other parents

  8. Kassidy says:

    I have a 6 year old son who is nonverbal and was diagnosed with Autism at age two. We did genetic testing as well right before this. It was found that he has a deletion on chromosome 15.1.21.1.We were told that this could lead to a disorder called AGAT, but were also told this was not the case for him.The symptoms are very similar (some are exactly the same) as the characteristics of Autism.It has bothered me ever since and is always in the back of my mind. I have not been able to find anybody else with the same deletion either.

  9. Samantha says:

    I want to be in contact with above family’s. I search for family’s with deletion 15q21.2.
    Please contact me…

  10. Samantha says:

    please contact me on s.huizer@gmail.com

  11. Dale says:

    I recently found out that my 6 year old daughter and myself both have a deletion of chromosome 15. We are meeting with a genetic doctor in the next few weeks to get more information. I was thinking about starting a blog to describe what we have both gone through.

  12. Susan says:

    Has anyone looked into the CHD2 on chromosome 15 – it has been linked to epilepsy and also autism and development delays. There are children identified, more than 30 with a variant of the CHD2. If so, and you have a diagnosis of a CHD2 deletion please contact me as I am a parent of a 15 yr. daughter with a chd2 deletion – 15q26 (indicating chromosome 15) I belong to a support group you may be interesting in joining in on facebook.

  13. Susan says:

    Also just some info. on my daughter – epilepsy since age 6 (light sensitive -Jeavons syndrome), hearing imparied (both ears) learning disability, behavioural issues, scoliosis (mild), was delayed in walking (2 yrs. old) and talking (3 yrs. old), low tone truncal area, delayed in maturing (acts a lot younger).

  14. Samantha says:

    I want to be in contact with people with deletion 15q21.2. Please mail me s.huizer@gmail.com. My daughter has tested as well. We with on the results.

  15. Kumudha Ramanathan says:

    I am the mother of a daughter with 15 partial deletion. She is 33
    I would love to join the Facebook

    Page for the same

  16. Susan Murray says:

    send me an email please Kumudha at sdamjmurray@outlook.com….I will give you the info. thru e-mail…Thanks

  17. Susan Murray says:

    Hi Samantha, sorry I thought I might have had some answers for you but my daughter along with many others that have since been tested have the deletion on chromosome 15 in the q26.1, q26.2 and q26.3 (CHD2 protein). Most of the children/adults have epilepsy, behavioural with some having autism label and other issues. Wishing you luck on your journey with Amanda. If you feel you need to talk to someone who understands the challenges our kids bring please don’t hesitate to contact me Susan – here is my e-mail address sdamjmurray@outlook.com

  18. Dawn says:

    Hi, I have recently learned that my daughter has a deletion on chromosome 15q21.3-q22.31. She is 3, she has delay in speech and motor skills. She started walking at 2 and a half. She has seizures and some digestive issues. I would like to be a part of any support groups out there and learn as much as I can.

  19. Amber says:

    I just found out today the results of my sons genetic test. 15Q24. I am looking forward to connecting with those of you that are willing to share your stories and hopefully we can all learn and support one another!

  20. kathleen sand says:

    I empathize and sympathize with all you parents. My daughter endured a massive brain hemorrhage at shortly after birth. Then, blood poisoning through the umbilical cord. Major surgeries followed. She was released from a NICU 2 months later to die. Any assault on the brain can lead to seizure disorders. I had dreamed about her in a cap n gown, so, the doctors sent her home to me to ease my own mental and physical health. She recently turned 43. We went through the delayed growth problems too. With her issues, life expectancy was 2 years, more likely less. She resides in a group home, at a mental age of 8. Lots of issues with an adult who’s stuck like that. I recently met a mother with a son missing chromosome 15. He reminded me of my grandson who has Asperger’s Autism. And I cried. I am determined to help this young mother. Any way I can, even though we just met. Many Blessings upon us all during our journey with our little ones! Please remember that, GOD DOESN’T MAKE MISTAKES!

  21. Shannon says:

    My daughter is 14 years old. She has a deletion 15q 26.2-26.3
    Heart surgery age 2 (ASD)
    Eye surgery age 6 (strabismus)
    Recently diagnosed with hypothyroidism (although she is still thin build)
    She is only 5’1″ and always seemed short for our family. Her sister is 5’8″ and I believe they have both finished growing.
    Walked at 22 months
    Sign language at 14 months because she wasn’t speaking. She had less than 50 words at age 3.
    Diagnosed with ADHD.
    Not as mature as girls her age.
    Very happy and determined young lady; however, anxiety is present and becoming worse during teen years.
    Socially things have become very difficult since middle school. She has been bullied
    She is in public school and is beginning to need more and more support as the work becomes more challenging
    She so has severe high arched feet and hammer toes – no sandals fit her. Her foot is probably a kids size 3 at best but we buy a 4 to get her foot in the shoe
    She also has mild scoliosis.
    Always at a doctor for something it seems. She is going for an ultrasound tomorrow because of hardness on one breast and pain/swelling. Could be cysts, scar tissue from surgery and/or hormonal tenderness. One day at a time. Willing to share. Kevannon@gmail.com

  22. Shannon says:

    Hi Susan. I’m interested…What Facebook group? My daughter has a chromosome 15 deletion 26.2-26.3. She is 14 years old.

  23. Susan Murray says:

    Hi Shannon, the group is called CHD2 Research Group on Facebook. It is a closed group so you would have to go under administrator and send her a message to join the group. Please use my name as a referral. If you have any problems please email me again and I will get you connected.

  24. Susan Murray says:

    Hi Shannon, search for CHD2 research group in facebook. It’s a closed group. Therefore, you will have to request on the site to join the group. Melanie, the administrator may wish to contact you first before you get into the group.

  25. Amber says:

    15q24 is another closed Facebook group, but send a message to one of the admins. I’m in there: Amber Galvin.

  26. sara says:

    can someone reach me about a patient i have. his parents are foreign from iraq and the doctors seem to think their child is missing 26 chromosome. that’s all they know and i know. they’ve only been in the states less than a decade and now i’m his home health nurse and i can’t find anything about his disorder online to even research. can someone help us? he has deteriorated to almost a 4 month old’s capacity and he is 12 years old. he is on breathing tubes and a feeding pump. so many surgeries and they still are out in the dark with what to expect.

  27. Jess says:

    Hi … My son has chromosome 15 partial deletion on 15.1 , was told of his result two weeks ago . Anyone help me ?? Need advice , support , and with same deletion would be amazing to find as consultant told us his partial deletion is very rare ??
    I’m very lost right now .
    Is 16 weeks old so too young for most signs of conditions that may arise due to it yet . But id like to be prepared .
    Please if you have the same deletion or advice etc

  28. Jess says:

    Hello can you reply with more information regarding deletion please ? Is it similar to our 15.1

    Thank you

  29. Samantha says:

    Is this deletion 15q21.1?

  30. Susan says:

    Sorry you are sending email to wrong individual. My daughter has deletion on 15.26.1 to 15.26.3. Sorry I am of no assistance with the deletion on 15.1.

  31. Susan says:

    Hi Sara, can you please clarify if you are looking at deletion within chromosome 15 the genes located at 26.1 to 26.3 quadrants which is called CHD2 protein. It would be documented as eg. 15q26.1 . If so, please email me back.

  32. Amber says:

    Jess, my son also has a deletion on 15. There are support groups and Unique, which is a database for microdletions. The Facebook group is very helpful, if you should want to seek it out. It’s 15q24.
    I wish I could help you more.

  33. Jess says:

    Hi thank you so much I’ll have a look .
    His is 15q15.1 micro deletion he is only one in world according to database so far.
    But similar deletions would give me an understanding . We are waiting on mine and dads results to give us more …
    Would similar deletions be helpful to me or is every deletion completely different ?
    Thank you

  34. Amber says:

    I’m not exactly sure if it’s the same, but even within 15q24, I know the children are vastly different. It helps so much for support though and to know while this is extremely rare, not a lot is known, there are others that understand more.

  35. Kristine says:

    Deletion on chromosome 15 is either Angelman sydrome (if the deletion is maternal) or Prader Willi Syndrome (if it is a paternal deletion). My son has Prader Willi syndrome.

  36. Rynae says:

    Hey parents I see a lot of questions and concerns as far as child having a deletion of chromosome 15. I believe everyone one on this posting is without answers and that’s because there aren’t any. Geneticist have found no known information on this particular chromosome and they can’t link it to anything. I see everyone situation is different with children who have severe conditions than the next. My son who has deletion of chromosome 15 q25.2-25.3 has mild learning disabilities, processing issues, problem solving issues and things of that nature. Growing up he had no health issues but was delayed with little things like eating on his own and talking. However he walked early, biked early and has a great memory. Now he is 8 and has a hard time in school, he has the willingness to learn but not the ability to. I am still under going a lot of test to have him diagnosed. Often people don’t see his disability and view him as a “normal” child which makes it hard for me to get the proper services for him without putting up a fight. I hope to come to a conclusion very soon.

  37. Michelle says:

    My 6 year old daughter has a deletion on 15q21.3.
    walked at 2.5yrs, good understanding but doesnt speak.
    severe behaviour issues with severe autism and mental health

  38. Samantha says:

    Recognize very much like the sensorry problems, autism and planning problems, solving problems is a issue here to. We are in the middel of a whole genome sequincing test hopefully we get more answers…
    My oldest daughter is 8 have a hard time to and school doesnt notice the problem. They only do if the learning is really bad mostly the second part of schoolyear…i have the same issues and have a lot off diagnose wat dont fit. The problem is psychologics search for diagnoses to treath but there isnt 1 diagnose for us….so it is very very difficult…we start the aba education soon so hopefully they can help us. In the Netherlands it is not that familiar.
    If you want you can mail me at s.huizer@gmail.com

  39. Dawn says:

    Hi, my 3 year old had a deletion 15q21.3 -22.31. I’d love to talk with you. Please feel free to contact me. Dmdooley57@gmail.com

  40. Doreen Robertson says:

    You are not alone with Amanda I’m a 50 year old mom with a 6 year old daughter with the deletion we dont know what to expect but we have to hold our heads up and keep it together for our children no matter what they face its all about them and the love they deserve

  41. Doreen Robertson says:

    Has ny of your children had some kind of growth attached to the spinal cord?

  42. kendra says:

    Hi, I have a son with a rare and only one with his chromosomes. He has three chromosome 2’s, the third chromosome 2 is on the bottom of his second chromosome 15. Would love to find someone similar to his. He’s almost 8years old and he’s small. Looks like a 2yr old. Doesn’t walk, talk, or play with toys. Luckily he drinks from a sippy cup so no feeding tube but he can’t chew food so he drinks nutren jr. He also has siezures, he’s had them at 5monyhs old and they stopped until he was 13months old and has had them ever since.

  43. I have 2 children who have 15q26.3 deletion. I’m currently on the unique website which does have a few with the same deletion as my 8 yr old and 13 yr old but looking for more out there and would like to share past exsperiences

  44. Art3mis says:

    I work with a 21 year old man who has this exact deletion. He has far more serious disabilities- he is wheelchair bound, unable to talk or walk, has severe learning disabilities and requires full support with all aspects of his life. He also has complex epilepsy (Lennox gestaut). Despite all of this he is a wonderfully happy young man!

  45. Sarah Yeaman says:

    Hi Amanda, my daughter has 15q25.2 Deletion! I have a page on FB under 15q Deletion where you will find many other 15q families! You are definitely not alone! 🙂

  46. Deisy Nava says:

    My little sister was diagnosed with Chromosome 15 deletion. & we still haven’t yet found someone that has the same. & willing to meet others on what our family goes through as well with my sister. She turned five & taking her to therapy every week. Please feel free to email me. I’d love to be added to these groups & my little sister make new friends!

  47. Taylor More says:

    Henry has 15q 22.3-24 interstitial deletion. Also told no other cases the same. He is 6 now. Please contact me 🙂

  48. Dawn Dooley Stevens says:

    Hi Deisy,

    My daughter has a 15q deletion. Please feel free to contact me. dmdooley57@gmail.com

    -Dawn

  49. Cheryl Berardi says:

    My name is Cheryl & I have 4 children with a chromosome 16p13.11 deletion. They are all affected with learing disabilities, social & behavioral issues as well as developmental delays. I know with the right supports being put into place, they are thriving & working to their potential & that is all I can ask for. I know sometimes it can be overwhelming & disappointing at times, but they are all “unique” & special in their own way!! Stay encouraged & always remain positive!!!!❤

  50. Deanna Bajtka says:

    My son also missing # 15. Your not alone.

  51. RAJEEV KUMAR says:

    My dautger has 15q11.2 deletion please contact rajeev1277@gmail.com

  52. Brenda Wright says:

    Hi Amanda, I have a granddaughter that has the 15q missing she will be 4 in July. She is just starting to walk,she does make sounds but no talking yet. When she was born she had a twin but died after 5 days of birth.her mother and I have started sign language with her it seems she understands but no movement with her hands yet. We also wonder is she will ever talk.She is on medicine for seizures, and just had her tube pulled from having to be tube feed, so she is eating , she has to be feed still can not hold her spoon. But on a happy note she did use her potty chair for the first time yesterday so we are so excited.

  53. John Mckenna says:

    Am 37 year old man and have chromosome 15 deletion . Just been told I have it along with my son who is 5 months old we have no idea what to expect or what is going to happen any advice would be helpful thanks j-mckenna31@live.co.uk

  54. Big mama says:

    Hi my son whose 9 yrs old was diognised with delition 15 in September last year we are going to see a genetic dr nxt wk does any1 know what they will do when we get there please any help would be greatly appreciated

  55. I have an 18 year old son with deletions on #1 and #15. Many challenges through the years but I’m blessed to report he is a senior in high school and will be getting a diploma. He also has PVL ( a brain injury from birth). I’m not well liked in the school system because of the constant advocating on his behalf. It would be very easy to give up but I want to encourage eachother to keep challenging these kids and supporting them. They are gifts that should be treasured. Not sure at this date and time where my son’s life will end up, but I would never forgive myself if all avenues weren’t explored and attempted. Love and support to all of you!

  56. Just got told today my grand daughter has delition 15. Her development had been slow but she is only 19months! First time I had heard of this we have a meeting on the 3rd if July

  57. Caitlin says:

    I was born in 1999. I was born with microtia and facial bells palsy. I had slow development physically. Over the last few years I was diagnosed with scoliosis and different sized kidneys. I was later went to see a geneticist who ran many blood tests to find out I had many parts of chromosome 15 missing. They still haven’t put a named condition to it because none of my “symptoms” fall into one condition and sometimes contradict each other. I am now finishing off my A levels and done quite well academically so don’t worry, your child will develop over time and make up for the slowed time. I wish you all the best in the future because it will all be okay eventually just don’t giv3 up

  58. Crystal Yvette Lindenbach says:

    I have a cousin with deletion 15 she is 36 years old. Mental age is 3 years. She is a beautiful soul.

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