Newly diagnosed - any advice appreciated!!!

[LittleMissIlana]

I recieved a phone call from my daughters new paediatrician this afternoon where he mentioned Ilana having 22 Q 11 deletion. I have only started seeing him this week as the one she was allocated to when she was 1 mth old was useless. He thought i already knew about this and was really sorry to be talking about it over the phone.

So now my head is spinning!

A bit of background:

Ilana was born @ 36wks weighing 1.5kg. She had multiple vsd's - her heart was initially failing. By some miracle, these have closed and the surgery that was scheduled was no longer needed. She has a diaphragmatic eventration, dextra cardia (her hearts on the right & is like a mirror image), double cervix and 2 uteruses, feeding & growth issues. She is now 9 mths and weighs 5.6kg, never took to a bottle/breast and gags on her solids.

So i know each child is different, but i would greatly appreciate any advice of things which may lay ahead for us.

Thank-you Xx

[Mom_2_Boyz]

Well, for me, once I got to mourn the loss of having a "normal" child, it was just really great knowing there was a reason all this was going on!  And it was nice to know what things we should be watching for and looking for.  22q11 is really hard as far as giving advice because there are 180+ associated symptoms!!!  So, it is totally insane.  There do seem to be some things that do hold true for most kids.  It is so awesome that the VSDs closed on their own!  My son had a pretty large ASD, but it also closed on its own.  That was a huge relief. 

I think the best advice I could give right now is to get ready for the long haul.  Every doctors visit brings a new list of "to do"s.  Every stage brings a new challenge.  As an example, we went to the orthodontist and got x-rays to prepare for a bone graft to the jaw.  In these x-rays, the neck was visible.  The orthodontist said that having seen 1000s of these, he just felt that my son's neck looked different.  2 1/2 years later, we finally got things worked through and saw a neurosurgeon who told us that every bone in our son's neck was malformed in some way- most significantly, the 1st vertebrae was not a ring, but just two pieces.  His neck was highly unstable and needed to be fused to his head.  This is the kind of unexpected I suggest you prepare for.  A simple dental x-ray led to a week in the hospital and a fused neck! 

The only other adivce I have is the the more I talk to other parents it seems that 22q11 kids have a very willful nature.  I don't think they are trying to be insolent or disobedient.  I think it is hard for them to bend their will to others, to change thier thinking once their mind is set.  They have difficulty with abstract thinking.  This can make parenting VERY hard.  Establish early a pattern of consistency, a pattern that you are in charge, but a pattern of trust anc cooperation.  We try really hard to involve Drew in his medical decisions and care (as appropriate) as well as in his self-help and daily living decisions.  I think this allows him some control and avoids some of the power struggles that are daily life with a 22q kid.

Good luck!  Hang in there and come to us with questions!  Also- my 22q11 child did not have a lot of feeding issues, even with a very severe complete bilateral cleft lip and palate.  However, I have an 8 month old right now that has decreased white matter in his brain as the result of some thing that happened in utero and he has had NJ tubes, NG tubes (current method of feeding), thickened liquids and will be getting a G-tube on July 1st.  So I have some experience there too!

[grammiechelle]

I have done countless hours of research on this syndrome. If I can help you in anyway, please feel free to contact me. I have two informational sites with many other connections available. www.elijahslegacy.blogspot.com/ and www.elijahslegacy.ning.com/

I promise you my research is valid and I will help you.

This is the road less traveled and very misunderstood by many docs.

Grammiechelle(M.Greggs)

[grammiechelle]

You seem to be a very strong woman! I don't understand why we have to go through these things. The why doesn't really matter though- does it? It's just the 'doing'  that matters and moms like you (us) always find a way. As a fellow mom of a VCFS/HEART baby and Grammie of a very special DGS baby I can sympathize w/you and be a cheerleader for you if need be.

Visit us at www.elijahslegacy.ning.com/

where we are trying to help find the answers for everyone. Any suggestions and input would be greatly appreciated. I have researched until it is all I think about, but that doesn't mean I haven't left something out. You have unique experinces that could be helpful to others. Please visit.

Grammiechelle(M.Greggs)