New Here. Chromosome 1 deletion

Hi! My name is Audrey and my son's name is Keaton.  He was diagnosed with chromosome 1q42-1q44 deletion about 1 yr. ago.  So far, that means that we have a diagnosis,but don't know a whole lot about it or whats going to happen in the future. I am in desperate need of finding someone in my situation. Keaton is in the hospital right now, and it's been a rough ride.........too many questions and not enough answers. Is there anyone out there that also has "Keaton syndrome"?
Audrey

[mommyofnathan]

I don't have advice or information but good luck.  My prayers are with you and your family.  I know the hospital runs only to well, it's not fun and games.  

[keatonsmom]

Thank you for your prayers.  I wanted to make a suggestion about the sleeping thru the night...Is waking up in the middle of the night or not going to sleep till super late?  Have you tried vibrating pillows? I got one for my son Keaton at walmart ( do u have walmarts in s. africa??) It's really cute, a green pillow with a frogs heads, super cute and comfy. You push one of its feet (onthe 4 corners of pillow) and he vibrates..I put it on his back...or his tummy if its hurting...off to dreamland. If he's not breathing well and thats waking him up in the middle of night I prop him up with pillows or I have a "little person" husband...mini half arm chair pillow if that makes sense..he breath therefor he can sleep hmmmm...I think on it and see if I have any more tips good luck

[mommyof3boyss]

My son has chromosone 1 deletion (q42.3)!!! I've been looking for some1 to relate to myself!! Its very rare and not many kids have lived with it.  He is 20 months old! Very tiny! He's 17lbs and has very poor motor skills! He has a list of complications! Plz get back to me so we can chat!

[houria]

Hello, I am wholeheartedly with you, my baby is born with a deletion of chromosome 1 and has not survived. He had a series of defects: the heart, kidneys, liver, ears .. COURAGE TO YOUR CHILDREN AND FOR YOU.

[crystalburger]

Ladies, please message me!!  My daughter has 1q44 delection disorder and she is 4 years old.  We just found out what has been going on with her all her life.  I would love to know more about your children!!  houria, I am sorry for your loss.

[emma912]

hello my daughter Aaliyah has 1q44 deletion and 1q42-44 duplication she is 5 years old and has global developmental delay she can walk but her talking isn't very good however that doesn't stop her from letting us know what she wants. She is a happy independant little girl who we love to bits xxx

[TannersMommy0305]

Would love to know more about all your children I have a precious little boy who is seven and has 1q44microdeletion,  

[Cloggsey]

Hi All,
Are any of you members of the 1Q4 Facebook group? there are 84 members now with children who have 1Q41 through to 44 deletion. Emma912 I'd love to hear more from you with regards to your daughters speech.
Thanks
Claire

[cooperpaige5]

My name is Lynn and I have a 13 year old daughter with 1q44 deletion.  I was told 3 years ago when it was discovered that because her father had this same deletion that it meant nothing until a couple of days ago another doctor said that 1q44 deletion was actually a syndrome that affects everyone differently. Some may only have a small head like my husband and others may have numerous issues.  Last year my daughter went through open heart surgery to repair 2 atrial septal defects and repair the pulmonary valve.  She also has 1 kidney, scoliosis, low tone, developmental delays, learning disabilites, and numerous other medical issues.  You would never know any of this by looking at her - she is an amazing young lady with a great personality.  I am eager to hear more about this 1q44 deletion - it may be the missing piece of the puzzle to figure out what caused all of her issues.  
Thanks,
Lynn

[Obimiki]

I too have a 13 year old daughter with 1q44 deletion. We found out yesterday from our geneticist and my husband and I are going to have blood tests to see if we have it too. Her 2 brothers and younger sister are all healthy. Kate was diagnosed with hydrocephalus in utero and had a VP shunt inserted at 4 weeks. At 12 days of age, drs found 2 holes in her heart(ASD/VSD) which she had repaired at 5 months. She had her first seizure at 11 months and had a gastrostomy at 3 years due to low muscle tone and aspiration pneumonia.This was a big turning point for her as she stopped getting pneumonia and over the years her health has improved. Kate doesn't take weight and uses a wheelchair. She can communicate with words and phrases and loves music and singing. She attends a special school for chn with physical/intellectual disabilities. Now... Kate is a beautiful girl who is happy, has a great sense of humour and is so loved by all. She requires 24/7 care but has quality of life. I would love to hear from people in a similar situation to share stories. Lizzie.