22 q 11 distal - Real Mum story on MoM

12 Comments

I received a call 2 mornings ago as I was walking out the door to take my 19mo son to his physio/speech/OT appointments. It was his pead, calling to tell me that the results had come back from his last lot of tests and it showed a deletion of information on the long arm (q section) of his 22nd chromosome. This would explain why he is so small (about the size of an average 10-12mo), his head circ hasnt increased (and is very small but looks in proportion to his body luckily!), he was delayed in holding his head up, sitting, he doesnt crawl (became a bum shuffler at 15 months), doesnt walk or even talk. All of this is explained by the syndrome. He is now living in the third state since he was born, which they tell me has made it difficult to diagnose, but I think they are using that as an excuse, as I have always pushed as I have known something was wrong. He has also always had feeding problems among other things, but everyone has said he is just delayed. The last pead we saw (the one we are seeing now is our second opinion) said he was just lazy and would walk when he was ready, he is a baby and will develop in his own time. If you ever have someone tell you something that you dont agree with, seek a second opinion. If we hadnt, we would still have a “lazy” child and wouldnt have access to more services to help him develop. Ive taken it pretty hard, as I am pregnant with our second child and my husband is away on deployment, so Ive had to deal with all of this on my own. We have only been in this location for 4 months so I havent made any friends to help me. Luckily this posting our families are now only 4 hours away and my parents and inlaws have called after every appointment

Posted anonymously, 22nd March 2014

12 Comments

- - meimei said
  - 26 May 2014
    10:59 pm
Hope everyhing get better soon. Good luck.

- - catgrrl3 said
  - 21 May 2014
    3:54 pm
awww love and hugs to you sweet heart, I cannot imagine what you have been through

- - scottie said
  - 12 May 2014
    8:22 am
So true that you should follow your instincts!

- - arcticwynta said
  - 09 May 2014
    8:05 pm
your story each time I have read it always hits me in the heart but at least you got an answer and it would be hard for you with Hubby so far away

- - hopefullyheidi said
  - 03 May 2014
    2:32 pm
We’ll you have us here for you on the site I have found refuge here, as I’m a rather isolated person- my family live in Tasmania and far North Queensland and I live in Victoria. Thank the good lord for your mothers instincts and perseverance in getting a diagnosis. I really feel for you. It is quite astounding the paediatricians didn’t do further initial investigations and you were right to seek another opinion. We have only just found the perfect specialist for us and once you find that person it is such a relief. If you need support or some kind ears, us mums are always here. Take care in this trying period of time xxx

- - fatheroffaprincess said
  - 31 Mar 2014
    6:30 pm
i hope things get better

- - vidald79 said
  - 28 Mar 2014
    12:48 pm
How the hell can a little baby be lazy when it’s their nature to be inquisitive? Good on you for getting another opinion. It’s sad to hear that you have no one there with you right now though. Perhaps you could find more groups like this for support or even some that help with the specific needs of your child. I hope your second pregnancy ends with a happy healthy baby. Good luck.

- - jodie80 said
  - 26 Mar 2014
    1:23 pm
i guess mummy knows whats best . .

- - mummy liana said
  - 25 Mar 2014
    10:28 pm
i hope things get better, always best to know

- - arcticwynta said
  - 25 Mar 2014
    1:32 pm
well done you went with your Mummy gut and got answers

- - cinta said
  - 25 Mar 2014
    11:33 am
Its all ways best to get a second opinion, I hope things start getting a bit easier for you xx

- - yyon4699 said
  - 22 Mar 2014
    6:16 pm
It is devastating to learn about news like this… I hope things will get better and better!