Chromosomal Deletion Abnormality in Baby Gregory; Parents Looking for Those Who Have Been There


I’m reaching out as I’m interested to know if there is anyone out there in our shoes!

My son, Gregory, is 13 months old and such a lovable baby. This past year has been hard for me and my family. Everything is a struggle, but everyday gets better. Progress is slow, but that is okay.

Short history: I had a normal pregnancy, fairly easy. Smiles all day, where I couldn’t wait to meet my son. September 3rd,  just three weeks before Gregory’s due date, my water broke. After hours of labor, we had an emergency c section because his heart rate dropped. He was finally in our arms, and we were so happy. Day two in recovery, baby Gregory was taken for his hearing test when he was rushed down to the NICU for fast breathing. From then on, it has been a bad dream. Six weeks of testing, prodding…. Ughhhhhh..

Then we found out that my baby had a rare chromosome abnormality. We finally were able to take him home six weeks later, but he had a g tube because he wasn’t feeding properly. The winter was rough…. He constantly had fevers and his tube constantly popped out. We were in and out of the hospital throughout the winter.

Today, Gregory is great! No fevers, no tube, his VSD is closing… Now our challenge is his development. He is globally delayed. He does not sit up yet (he has hypotonia), has a real hard time during therapy, doesn’t really like to be touched a lot, doesn’t respond to his name yet or communicate, and is having issues with solids. He just got the hang of being spoon fed. With all that said, he loves to laugh and smile, which just warms my heart!

My hopes for his future is that first and foremost he is happy and healthy. I just want to help him be the best he can be…..

Any parents out there in the New York city area that have had good experiences with therapists, speech, ot, pt, aba, etc., please reach out to me. I am currently looking into alternatives and would love to hear from other parents in similar situations in the comments!

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Global Genes Comments

  1. Oh my your baby sounds like a joy and is so cute. My son has a deletion om 11p he had been a normal smart even advanced baby, but after getting his shots and entering school things went crazy. He began acting erratically, could nolonger remain in school and was hyper and defiant. He also walks on his tiptoes. Im a bit bummed because I had the prenatal genetic test but it didnt detect it. He has improved with therapy and natural remedies but he is addicted to video games and still cant read at age 6. I dont know what to expect.

    • Ashley Jones says:

      Hi my name is Ashley and my daughter has the same thing. She got her blood test done 3 weeks ago and today I just got a call back about her test results so I went out there and he said she has micro deletion too so now she has to go to speech. She just really started walking and she’s 1 and 1/2 Years Old. She also did everything late also.

  2. Melissa Silva says:

    My son Dylan has a micro-deletion in chromosome 2. It is called 2p25.3. He is globally delayed. He is 2 years old and doesn’t speak and is very clumsy. His attention span is very short. He did everyday late too. He started sitting up when he was 1. Walking almost at 2 years old. It’s been a long road but we are slowly seeing improvement. He has no health issues.

  3. Thank you for that information Takiyah!

  4. My newborn has 9p minus syndrome also called Alfi’s syndrome. The geneticist said she will be different but nobody knows how exactly. I guess only 1 in 50,000 babies get this chromosome defect and it’s just a mutation that randomly occurs during pregnancy. I pray with early intervention she won’t have too much trouble learning and keeping up with other kids her age. She has an older brother newly diagnosed with autism so I am juggling two special needs kids and 3 older kids without special needs. I started two big binders with folders and college ruled paper to help stay organized. I try to right things down in it like next appointments. God is with us all and only he knows what will happen next! I would love to exchange information and support everyone because we need each other! My daughter is 8 weeks old with two hernias hopefully those get repaired and nothing else occurs.

  5. My son Justin has had different issues since his birth, which were all treated as individual concerns although I always felt strongly they were connected. Finally at age 7 a new doctor recommended genetic testing and we discovered he has 16p deletion as well as a mosaicism on his X chromosome. This has resulted in delays in almost every area for him. His oral motor skills were so low he didn’t know how to chew food, he would just stuff his face until the saliva broke down his food. He rolled around the house instead of crawling, hit all of his milestones late, didn’t talk until age 3.5 (he did use toddler sign language which was a HUGE help to lower his frustrations!). Today he is almost 9 yo and through all of his hard work with OT, PT, Speech and family help he runs, climbs, speaks, and does alot of things “typically”. He still has a hard time with fine motor tasks like handwriting, completing tasks, etc. No one quite knows the future but we take every day as it comes and try to make it fun. There are lots of groups on Facebook and other web communities to connect with so keep researching Momma! #1-trust your instincts with him always. #2-don’t stop asking questions and demanding great medical care for him, #3-sign up for disability with SSI to get him the medical coverage he will need. Good luck Momma!

  6. Tiffany Bryant says:

    my son Tanner has a chromosome 9q deletion i have been thru a lot with him if you need to talk vent ask questions email me anytime

  7. Hello.

    Although I currently live in Maryland, I’m from NY (born and raised), and I know it can be hard to find good therapists and doctors when there are so many to choose from. My husband and I had our first child 3 years ago and, long story short, we found out that she has a chromosomal “abnormality” as well. She’s missing part of her 21st chromosome. I can relate to your struggles because she has had a host of medical problems, from severe constipation and needing to go to the ER to having a g-tube which she has had for a little over a year now. Regarding help, we used to have many different therapy appointments several times per week, but we found a program called the National Association for Child Development (NACD). I now implement all of her therapy myself, with the help of the program. We just started the program a couple of months ago but I’m seeing progress in some areas already. Of course God gets all the credit but I believe He brought the program into our lives. Sorry I don’t have many more answers for you but it’s good to connect with other parents who can relate anyway. Feel free to contact me again. Have a great day!

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