Just by his smile, everybody knows our beautiful two year old son Aaron, or as we call him, our Ace. He’s the light of our lives (as most children are to their parents–but we like to think he’s got an unusual glow about him)! As soon as you meet him, it’s pretty easy to see he is a happy kid, one who is always quick to give a cheesy smile and ready to charm anyone almost instantly. He is unique. We didn’t realize just how unique until recently when we learned Aaron has a rare deletion on chromosome 8.

We were told that there is no one in the genome database with the same deletion as Aaron which, from what we have read, can be typical for these rare situations. We are fortunate to have doctors that have monitored a couple of things that were medically “off” when Aaron was born, even if they weren’t causing a problem (dilated right kidney and coloboma, for example).

We reached out to Early Intervention through our state when Aaron still wasn’t walking at 18 months. We are incredibly proud and incredibly thankful for the awesome team of people who support him, including family, friends and therapists. We have seen numerous doctors, including a neurologist, ENT and developmental pediatrician. Our adventure with Ace lead us to the department of genetics where they confirmed that Aaron’s chromosome deletion is the reason for his delays. Even the experts know very little, and while that can be frustrating to hear, it also helps us set no limits. As we told family and friends recently, there is no clear path, so we will just let Aaron show us the way.

My advice to other parents is to have perseverance, follow your gut and—when all else fails—let your child be your guide. If we hadn’t followed our gut and kept asking questions, we may have never found out about Aaron’s deletion. Make sure you have a supportive pediatrician that listens to your concerns. Sometimes you have to go through multiple tests and/or doctors in order to cross things OFF the list—which sometimes is more important! Answers don’t come easily in rare situations, so you have to pursue them.

My biggest piece of advice though would be to welcome any and all support from organizations/individuals that can support any special needs your child has—however big or small—then set limits for yourself. I think it’s natural to want to learn everything you possibly can about any case remotely similar to yours. It’s worth doing the research and joining the support groups because you can find another parent to connect with who just “gets it” even if he/she isn’t dealing with the exact same diagnosis. I am incredibly grateful for these people in my life!

When I focus on milestone charts, what my son should be doing or what a typical two year old is like, I lose sight of all the things that Aaron is doing and who HE is. So don’t forget to just let your kid be a kid, and allow yourself to just be Mom (or Dad). I now realize that sometimes the most important thing you can do for yourself (and your kid) is to give yourself a break now and then.

11 thoughts on “Ace’s Adventure with a Rare Deletion on Chromosome 8”

  1. Luca's mommy says:

    Hi – I just found out my son has a rare deletion on his chromosome 8 as well. I would love to talk to you and get more insight on your experiences with cutie pie Ace so far. How can I connect with you? Thanks.

  2. Tonya says:

    Hello! I have a 3 year old son who has a very large deletion on the 8q21-22 chromosome. After genetic testing, his deletion fell into a syndrome called Nablus Mask-Like Facial Syndrome, and there are only 7 known cases in the world of this syndrome. I would love to connect with you and anyone else that is in a similar situation as we are, and see what our cutie pies have in common! Thanks for sharing your story!

  3. Luca's mommy says:

    Please feel free to connect to me on my gmail talktovanessa.p@gmail.com.
    It’s such a rare anomaly and our journey has just begun. I welcome any chance to share and discover more information.

  4. Aimee Bonham says:

    There are a few facebook groups for parents with children who have deletions on the 8th chromosome. My sons deletion is 8p21.3 deletion. One group is chromosome 8p23.1- we are a part of that group even though our deletion is slightly off. There is also a new website chromosome8.org for parents and another general chromosome 8 parent and therapist facebook page. They are great to get to know how other parents are dealing with issues. Hopefully you all already know about these!

  5. Christy says:

    Thank you for that beautifully written article! I just found out 3 days ago that my 5 year old daughter has a 8p23.2-23.3 deletion. I knew something wasn’t quite right with her shortly after birth, and after lots of questions and research I got a developmental pediatrician to order a genetic test. It frustrates me a bit to think that if one of the MANY doctors and specialists we have seen would have ordered a genetic test years ago, we would have known a lot sooner! It would have saved us lots of time and money too, but I am happy that we are here now. Your message rings true that we as parents are our children’s biggest advocates and we need to keep asking questions! Now we are looking for other families who have children with chromosome 8 deletions for support, insight, and advice!

  6. Danielles mom :-) says:

    My daughter is 15 years old and she has 8p chromosomal deletion. She has gone much farther than I thought she would. Very social. They have programs out there for children like her. She does so much in the Special Olympics. It’s for kids like her. She does softball, bowling, swim, track. She may not be the best at these things but her heart is in it. Being with other children like her makes her feel like she does very well. She just started dance. I recently discovered. There are incredibly amazing people out there who give their time to these kids to take the time to allow these children the opportunity to be in dance. When she was young I discovered the beat way to reach her was thru music. Yes. She has no coordination, no balance, very little muscle strength. She still goes out there and lives to the fullest. Yes she will be with me for the rest of her life. As her mother. I wouldn’t have it any other way. These kids do have a disorder. Check around there is so, so very much out there for them now!

  7. Holly says:

    I know im not a parent but after having different issues over the years and my mum taking me to drs over the years but them telling her. That ill be ok and get by. I have been dianoised with a small deletion of Chromasome 8 at 34 years of age.

  8. Jeni says:

    Christy, i just found out that both of my boys have that same deletion, but they also have a partial trisomy 20p. I would love to know of any information you have found. My boys will soon turn 5 and 3. We’ve been doing early intervention and different therapies for years, but the whole genetics world is new to me. 🙂

  9. Stressed mum says:

    Hey there, I just got some news today that my son has a deletion of 88p 23.3 and a duplicate 12g21.33-22. The paediatrician couldn’t tell me anything else.. His father and I now need to go for genetic testing.. He’s 8 with Autism and a few other health issues. But if anyone knows anything about these could you let me know. I can’t find anything online.

  10. Stressed mum says:

    It’s just 8p23.3and 12q21.33-22 sorry iPads lol

  11. Lyn Boshier says:

    Hi my daughter Michelle is 26 and has deletion of the shortarm of chromasome 8.We have had many trials to go through ie heart surgery learning difficulties etc but even though her life is limited as in not living independently she leads a full life .I thought I would write this to all of you mums with young children wondering what the future will bring .Good luck on your journey with your children

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