Tell me about DiGeorge Syndrome

[Maine Mama Doula]

I posted on here recently some questions about FAS/FAE. In describing my children's behaviors and congenital defects, a number of you have spoken to me about DiGeorge Syndrome. DS has had one cystic kidney prenatally and now has only one visible, functioning kidney with minor reflux (grade 2). He had difficulty with his large motor development and now, at age 3, is requiring CDS intervention in his pre-K program.

DD2 had an aortic coarctation that was diagnosed and surgically corrected when she was 9 months old. She is now 20 months old and doing well.

One piece I left out in my prior posts was that I had an older sister with a congenital heart defect who died during her second surgery at 3 days old. I'm assuming it was an interrupted aortic arch as my mother says, "Her aorta was not attached." Apparently, it should have been surgically correctable.

My children may or may not have facial features associated with DiGeorge Syndrome. DD2 was tested for Turner's and I assume it was negative. I don't know if they did further genetic testing either. I plan to start asking lots of questions of DD2's testing and about getting DS tested. I also just recently had a miscarriage, my first.

So, who has experience with DiGeorge Syndrome and what can you tell me about it?

[askew]

I can't tell you much about diGeorge, my dd has another syndrome. I can tell you that your daughter when tested for Turners likely had a chromosome analysis and while it may turn out that with the more advanced microarray she would find something, it is likely there is not a large chromosome error. DiGeorge is just one of thousands of syndromes, some with names some not. All result from a deletion or duplication of genetic material. A lot of people with chromosome issues share similar features and symptoms, so without the test you won't know if your son has one, or which one.

[momtoalexsarah]

Hugs to you, you've had a long journy. I saw pics of your children on your other post - they are beautiful - just stunning.
DiGeorge, Also called VCFS and I number of other names is typcaly caused by a deletion at 22.11q.2 (22nd chormasone, 11th pair, Q arm 2nd position). This deletion accounts for 90% of kids presenting with a cluster of symtoms. The main ones being - 1 or 2 of the "big" ones
Heart defects
Cleft palate (the only geneticly confirmed cause of a U shaped or "syndromic cleft" either open cleft or more commonly a sub mucus or covered cleft
Kidney defects
Immune/Thymus issues

And a number of "smaller" markers
a few include
Cuped ears
hypertolism
tapered fingers
double hair whoral
larger space between large and next toe
small mouth
Recesed chin
Reflux,
and a huge number of other markers

My DD has 3 major
Cleft palete, heart and immune
and bunch of minor

BUT my DD is one of the 10% that does not have a 22q.11 deletion in the tradional sence. It is belived that hers is not missing the full 30 pairs that are tested for in the FHIS and nothing appeared in the micro array - but a mirco array is a shot in the dark as well - it dosn't catch everything.

I'm sure that mom2boyz will be here soon and she has a tonne of information as her son Connor has 22q del. I belive there are a couple other moms here as well. Also there is a little girl named VeeGee and she had been thought to have VCFS but advance genetic testing found another deletion - with the same type of symptoms.
Here are some links
http://www.vcfsef.org/about_vcfs/gen...formation.html
http://www.wikigenetics.org/index.ph...Syndrome_(VCFS)

[slylives]

You may also want to Google "India Knight". She is a British journalist with The Sunday Times and her daughter has DiGeorge Syndrome. I believe she is about 5 or 6 years old, and India Knight has written extensively about the family's journey through diagnosis and treatment. I wish you the very best of luck. I saw your post about FAS and I wanted to weep for you. (I had a number of miscarriages and had drunk a glass of wine or two early in the pregnancies.) Whatever this turns out to be, I hope you are OK.

[Maine Mama Doula]

My son seems to have trouble using straws and we thought he had a small tongue-tie that impeded his speech, but at 2 years old, a speech therapist evaluated him and said he was about right for his age, so we haven't done anything in that regard. I'm also concerned about sensory or hearing issues with him as he covers his ears with any low frequency noise like a blender or TV static. He passed his hearing exam at school, but they plan to re-test his vision. His pediatric appointment is Monday and I just have so many things I want to discuss and I don't think there will be enough time. And I tend to really downplay things. Oh yeah - eating is a real issue too. Our entire family had echoes done (since DD2's surgery) of our hearts and we were all given a clean bill of health in that regard.

I tried to find the India Knight blog, but the page kept coming up blank for me. Maybe my old apple iBook G4 just can't handle it

[momtoalexsarah]

How did he nurse as a baby - where there difficulties with that. My DD was unable to lastch due to a small mouth, and recessed chin. She spent 5 days in NICU because she had "wet" lungs - which we came to find out later where because she was asperating the BM that we where bottlefeeding her. She came home on a bottle of pumped milk, at 12 weeks old I fianly got her to nurse - but it was challenging. She regugitated milk out her nose, she had her first ear infection at 3 weeks old and was on antibiotics about once a month until she was 18months and they where no longer working and Tubes where put in her ears. She had chronic sinus infections until she had the cleft repair done at 32 months. She has been classed as FTT for most of her life - she fianly last that in the spring with a growth spurt - but her pead say she is still very very small - and it dose still concern him a little. At 4.5 years she is 37 inches and 35lb which is 8 inches shorter and 10lb lighter then her sister at the same age.
Her heart defect is Aortic and Pulminary stenosis. At 18months it was minor, and after a growth spurt at 2.5 she was cleared by cardiology. Unfortunatly her pead said last week that the murmur is louder and worse now so we had more cardiac testing done this week

[jennabean]

I hope we didn't scare you with our stories My son Al has 22q11 but I shared that to hopefully make you feel less worried about your children, not more so, so I hope that's not the case

I will say that it is NOT common for 22q to 'run in families' so your daughters issues and your son's and your older sister who died from heart problems... the odds of that being DiGeorge is slim from my understanding... it is almost always a random occurrence and if your children are affected either you or your husband would have to be affected, it doesn't skip a generation.

I'd be more then happy to share any and all info on Al (who has the totally random stuff that comes with this, not the heart/kidney/palate trifecta ) but I seriously doubt its DiGeorge... that being said though, if insurance will pay for it (the microarray is pricey but if you've got $2k for out of pocket, I'd think about it even then...) it does sound as if perhaps your concerns have reached the next phase, as mine had done when I started pursuing testing.... too many odd things that just didn't add up. I think for your own peace of mind and perhaps a diagnosis that helps guide your son's care, it would be well worth considering.

And again, I'll answer anything.... nothing more I love then talking about my kids! but I think the answer may lie elsewhere hugs to you through this journey...

[momtoalexsarah]

Just to add a bit to jennabeans comments - I don't think that a daignosis of 22q11 would be at all scary - I would love to have Megans "firmed up" so that when I'm talking to her doctors and teachers and such we could look to the information on it and deduce from there. BUT - I think that there are huge possiblties for kids with 22q. Megan is doing great - she is wonderful intelligent, althow she had significante delays up untill the last few months. It's not been easy and each and eavery one of these kids are unique. Megan is different from Connor, if different from another little girl we met a couple years ago with it (she had severe hypotonia and severe heart defect - where as Megan on these end was minor).
The one thing that is different with this syndrome is that no two kid with it are the same or follow the same path - they need to be treated individualy, and symptomaticly. The diagnosis is more a guide - for what to look for that you might not see (ie doing an echo on a child with a cleft, and watching for kidney issues). It also gives you the heads up to start therapy early - before speach and sensory issues arrise

[Maine Mama Doula]

momtoalexsarah - I wish you the best of luck with your cardiac testing this week.

DS went to the NICU for 2 days after he was born. They put him in there for rapid breathing, discovered a low BG, hooked him up to IV fluids with dextrose and kept all breathing monitors on him. He was a lazy nurser and still, the best of my 3. He has always measured on the small side, but just as I did with DD2, I was extremely persistent in nursing all the time because I did not want him to lose weight. Whether he was showing signs or not, I was constantly giving him the boob. Thankfully, he never entered the FTT category as DD2 did. He was only in like the 5th percentile though even though his birth weight was normal at 7lbs 15oz.

He had multiple unexplained fevers during his first year. We were on alert due to the one kidney thing. We ignorantly had him circumcised because we were scared of infections with his one kidney. The thought that the circumcision might cause an infection never even crossed my mind at the time. We were always focused on the kidney in that first year.

He did get really sick at about 4-6 months old and we had to use nebulizer treatments, for a cold.

He has had a severe double ear infection, but never required tubes. Just multiple does of antibiotics including an injection. His nephrologist wants us to keep him on probiotics for his kidney, which is kind of cool coming from an MD.

An then, of course, he couldn't sit by himself at 9 months. He would play for awhile and when he started to fall, he wouldn't try to catch himself. That's when we started physical therapy for gross motor development. He's still about 6 months behind there, but continues to be 6 months behind, so no regression.

Now he just started pre-K in the Head Start program. They're a little annoying in their involvement, but they're also an unbelievable resource. CDS will be stepping in soon because he did not pass their learning development tests for his age. I'm looking forward to their input.

[taffywelsh]

I just wanted to say, I read your other post about fetal alcohol syndrome, and the extremely insensitive comment that one person left (which really bothered me, whether or not you perceive yourself as having a dependency),
I just wanted to say you seem like a really awesome caring involved mom.
You want what's best for your boy! You are doing everything to help him in his troubles!
good luck to you
TW
ps I live in Maine too!

[2boyzmama]

HI!

As I said in your other post, my son has 22q11.2 Deletion Syndrome, Velocardiofacial Syndrome, DiGeorge Syndrome, Schprintzen Syndrome, CATCH 22, etc etc etc. There are about a dozen names for the syndrome, but they all describe the same thing, a cluster of symptoms stemming from a deletion on chromosome 22 at location q11.2.

Before I go any further into describing 22q, note that the symptoms overlap many other chromosomal syndromes, as MomToAlexSarah said, her daughter has a clinical diagnosis (FISH test has been negative for 22q deletion), AndVeeGeeMakesThree's daughter was thought to have 22q but turns out she actually has a novel partial trisomy (she's the only recorded case in the world right now), and like I said in my other post, a cousin of mine has similar symptoms and turns out she has SEVEN chromosome abnormalities.

So, while several of us mentioned 22q to you, it's still very possible that your son/daughter have a different chromosome issue, or no chromosome issue at all. I just wanted to show you that FAS/FAE was not the only possibility.

22q is usually DeNovo, meaning that it was not inherited from a parent. However, if a parent has the deletion, they have a 50% chance of having a child with the deletion. It can not "skip" a generation, so if it was inherited, it came from either you or your husband. Let's say that your sister had 22q which caused her heart defect, then you would also have to have it in order for your children to have it. The symptoms can be very mild and the syndrome can go unnoticed for generations. Example...a child at our hospital was born with a severe heart defect. Genetic testing found 22q. They started testing family member and made it back 5 generations with positive tests. No one had known! There were some mild learning disabilities in the family, but who thinks genetic syndrome just because of learning disabilities? No one. Similar story in my son's Ped office. Little boy born with severe heart defect, testing found 22q. Turns out the mom had it too! Her only symptom was delayed speech as a child and some mild gross and fine motor issues that she overcame on her own.

In our case, our son Connor was born and something was *obviously* wrong. Immediate breathing issues, severe feeding issues, he looked "off" with very strange ears, his lower jaw was very recessed, he actually looked Down Syndrome to me initially with wide spaced eyes, flat nose, smooth upper lip. We were so focussed on the immediate issues of feeding, weight gain, breathing (turns out he has a significant airway malformation), and reflux, that several months went by before we could start trying to figure out the root cause of his issues. He was 11 months old before we got the right genetic testing done (by "right" testing I mean the Microarray, first they did a chromosome analysis which did not find his deletion)

Connor does not have a typical cleft palate, but he does have a lot of palate issues. He does not have a known heart defect (although suddenly we're hearing a murmur again, he had an echo that was clear). He likely had some urinary reflux (had a UTI at 9 weeks old) but his VCUG was clear a few months later. He does have not the calcium issues common in the syndrome.

He does struggle a lot with immune system issues. Speech is severely effected. Growth is severely effected (3.5 years old, 26lbs, 36in). Significant fine motor issues. Airway malformation. Food allergies. Hearing loss. He has overcome all of his feeding and GI issues (with the exception of the food allergies remaining) He is definitely cognitively behind where his brother was, but some of that may be related to speech and hearing.

I need to get off the computer, but I'll be back to talk to you more.

[Maine Mama Doula]

DS's appointment is today and I already feel like I am downplaying things in my mind. I think I might be overreacting to a lot of things...yes, he has one kidney. Yes, he had trouble with gross motor development. Yes, I got a call from CDS today to set up an evaluation because he failed his learning screening at pre-K. And yes, he's sick again - he always seems to have a cold and/or fever. I'm going to ask a lot of questions and mention the microarray, but I really hope I don't get blown off...

I think DD2 might have been missed too. If I'm interpreting things right, the genetic screening they did for Turners would have just been a chromosome analysis looking for a complete deletion of X. They could have missed DiGeorge. I don't know. Here we go...

[Maine Mama Doula]

Update

I sent DH with DS and all my notes on a piece of paper. I KNOW I would downplay everything. My ped agreed that we should consult with a geneticist. He is more concerned about DD2 (obviously because her CHD was life-threatening at the point of diagnosis), and he gave us a number to call and schedule both children to see a geneticist. He did say DS has a high, narrow palate as well. Since I finally got confirmation from my mother about my sister as of her diagnosis of an interrupted aortic arch, he definitely was 100% on board with us seeking further consultation. I'll update more later.

[jennabean]

congrats and I do hope you get some answers soon!

[2boyzmama]

I'm so glad the Ped quickly agreed to a referral! HOpefully you don't have too long of a wait. But during this wait, you need to start gathering pertinent medical info about the entire family. Every living family member should be contacted and questioned about their medical history. The Geneticist will draw a family tree and take note of any trends in medical history. Ask your living relatives about any deceased relatives that they may know about. Write it all down, and if you have the time and inclination, make it into a tree for the geneticist.

Also write down every concern you have, no matter how seemingly trivial. There are some odd symptoms, for example the big toe is often really big in people with 22q. That's not usually clinically significant, but it's the kind of thing that the Geneticist should be looking for.

If you don't get this done before the appt, don't worry, you can still go to the appt and still get the testing done. But it might go more quickly and smoothly if you go in prepared.

Good luck!!!

[Lois1976]

I'm a 34 year old single mother who has the Digeorge Syndrome and I have a nine year old daugher who has it as well as my son who seven has it.

Between the the 3 of us we deal with alot of doctor's. We have some of the same problem's and some that are not the same kinda weird in away but it happen's.