where parents of kids with special needs connect
Intro
My name is Lisa and I have a daughter named Hailey, who will be four in May. I found out about this site whe n a new facebook friend posted an article from this site. Hailey has a chromosome 6 deletion q13-q14. As far as we know, there are no documented cases of her exact deletion, but recently we found someone with almost the exact same deletion! q13-q14.2! We got her diagnosis when she was 11 months old. We live in Southern California. I am looking to find people that understand and can relate to what we have gone/are going through.
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Replies to This Discussion
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Permalink Reply by cms8741 on -
Hi Lisa! Thanks so much for introducing yourself. My son also has a chromosomal abnormality, though they haven't been able to pinpoint what's happening yet. They tell us to get him tested every year and as technology improves, they might be able to do a better job isolating what's going on. Since you're the only documented case of that abnormality so far, I'm guessing that means there hasn't been any research done on that particular abnormality? What are the symptoms? And is there anything else going on aside from the abnormality? My son has severe mental health issues, which of course the geneticist is SURE is due to the abnormality. But since they can't isolate it yet, we just have to wait.
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Permalink Reply by Andrea Enga on -
Lisa, thank you for posting. I am also new to Hopeful Parents. Reading your entry I was all familiar with what you are going through. My daughter now almost 13 (ugh!) also has a chromosome abnormality. Haven (my daughter) at age 7 was finally diagnosed with this after many tests and assumptions. The test revealed, a derivative chromosome 2, apparently from a reciprocal translocation involving the short arm of one chromosome 2 and the long arm of one chromosome 9. So in non medical terms she is missing a small part of 2 and 9 is longer. There are no other cases out there matching hers. We have been to a very Big hospital in our state and they were confused. Suggested too we continue to come back and do more and more testing or see if anything else pops up….I haven’t gone back, I work with her and her school and take one day at a time and enjoy her so much.
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Permalink Reply by Lisa Jurek on -
It is amazing how many similarities there are, yet some signifucant differences at the same time. But the constant is the uncertainty that we all have. The doctors can make an educated guess, but they really can't give absolutes. That is why this site and others like it are so great. Maybe those of us that are going through it can help others that may not be as far and give eachother support. It is nice to find people that can relate to whay you are going through. Have you seen Chromosome disorder outreach? Another wonderful site to connect with others that have children with chromosome disorders. www.chromodisorder.org/
I'm with you on the excessive testing. We stopped that with the neurologist that wanted to test Hailey for everything under the sun. No thanks!
Our children are wonderful gifts. I don't regret any day that I have been Hailey's mother. I wouldn't give it up for anything in the world. Not even the hardest days.
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Permalink Reply by Lisa Jurek on
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Hailey has had several things going on, and they attribute it all to her deletion, but since there are no documented cases of her deletion, it is not 100%. I have in recent weeks, found other parents of children with deletions on chromosome 6 on facebook and the similarites are amazing! Her biggest issue has been with her kidneys, ureters and bladder and it started with her first urinary tract infection at 3 months old. She had Grade 5 reflux, the most severe type, where the urine does not stay in the bladder and empty, but goes back up into the kidneys, causing urinary tract infections and enlarged kidneys. hailey has had over 30 urinary tract infections, many hospital stays, and 3 surgeries. The second surgery was to "fix" the problem and a complication that came after was urine retention. Hailey now has a vesicostomy, a hole under her belly button that drains her bladder and alleviates the pressure on her kidneys. Recently we found out that the reflux has returned one side, and right now are just kinda waiting, nothing has been decided.
Hailey was born with pulmonary hypertension and was in the NICU for 10 days. It had resolved itself before she went home. After that she had torticollis and could turn her head to the left. She had hyp dysplasia, where her left hip dislocated. She was in a pavlic harness from 3-7 months to correct that, which it did. She has developmental delay and did not sit up independently until 13 months, did not crawl until 17 months and started walking without the aid of a walker at 2 yrs 7 months.She has speech delays and says probably ten words, but attempts much more. She know many signs as well. She has been in feeding therapy since she was 16 months old. If I could give an overall, the thing I would say is that things don't come naturally to her. She had to be shown step by step how to do something, over and over before she can do it. She has sensory issues, though has not been diagnosed with SPD. She doesn't like loud noise, music, talking toys, crowds, sand, stopping in a car or cart, to name a few.
Hailey is the light of my life. She is such a joy and I feel so blessed to be her mother. I can't imagine life without her. She touches the hearts of everyone she comes in contact with. She has touch me so much and even though she has been through a lot, she is a happy girl.
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