Rare Chromosome Disorders/Syndromes? - Page 2

[Enudely]

my son has a "difference" (not a deletion) of the TBX3 gene -Ulnar Mammory Syndrome.
He was born with a hand deformity. His right pinky attaches way at the bottom of his hand and is underdeveloped. The hard thing about our diagnosis is that many of the symptoms of Ulnar Mammory don't show up until puberty. So it'll be awhile before we know how he will be affected.

[glamourpup]

I rarely post (often lurk), but my son, who's 17 months old, has a duplication of part of chromosome 15 and a deletion of part of chromosome 18. He's the only one in any literature with his particular karyotype, and I can't even find any other combinations of 15q and 18q. Needless to say, we're charting our own course!

So far he's got significant gross motor delays, he's 17 months and unable to crawl, walk, or stand on his own. He has fine motor delays too and can't feed himself well. He also has a mild hearing loss and wears hearing aids. But his therapy team thinks his cognition is fairly good and he doesn't qualify as intellectually disabled yet!

It's hard because we have no idea what to expect, and we're already battling with the preschool program he's in about accommodations. But he's funny and happy and VERY affectionate and loving. Not to mention, as I saw one parent say on the CDO listserv, he's "congenitally cute."

[Lindsay1234]

We haent seen the geneticist yet but the cardio doc says she is "Undiagnosed DiGeorge syndrome".

She has several of the markers for DiGeorge including ToF, hypocalcemia, hearing loss, kidney reflux and a couple others but the test came back negative.

The thing with her is that her face isnt symmetrical. One eyeball is larger than the other and so is one nostril. She has a characteristic DiGeorge ear fold but only on one side and not very prominent. She is hitting milestones and her motor skills are right on track. She doesnt want to eat becasue of an aversion, not because there is something malformed.

Her doc says we are going to treat her as a DiGeorge kid until we can get genetic testing (which is WAY at the bottom of her medial list!)

[momtoalexsarah]

Originally Posted by Lindsay1234

We haent seen the geneticist yet but the cardio doc says she is "Undiagnosed DiGeorge syndrome".

She has several of the markers for DiGeorge including ToF, hypocalcemia, hearing loss, kidney reflux and a couple others but the test came back negative.

The thing with her is that her face isnt symmetrical. One eyeball is larger than the other and so is one nostril. She has a characteristic DiGeorge ear fold but only on one side and not very prominent. She is hitting milestones and her motor skills are right on track. She doesnt want to eat becasue of an aversion, not because there is something malformed.

Her doc says we are going to treat her as a DiGeorge kid until we can get genetic testing (which is WAY at the bottom of her medial list!)

Megans diagnosis is a CLINICAL diagnosis of VCFS (same a DiGeoge - normally a 22Q deletion) Her test has come back negative twice - they didn't belive it the first time. Her heart defect is minor (arotic stenosis at 1 year of age and is now withing proper tolerances) so it has corrected itself. Megan though had mild PRS as an infant and has the more severe form of submucus cleft palate (grade 2 full cleft soft palate and grade 2 submucus cleft of the hard palate) she also has hypertolism, mild hypotonia and mild immune deficency. Megans ears are a little "odd" but not quite typical for VCFS - as she gets older they are starting to cup out a little. She was a little delayed in gross motor, and very delayed in speech(still is as far as articulation -even 9 months post surgury). Her fine motor and cognative are at or above average. I think that as genetic technology gets more advanced they will find other genetic deletions/duplications ect that mimic 22qdel and I firmly belive that they should still allow for a clinical diagnosis of the syndrome even without a positive genetic test. There are many doctors - and parents groups that I've found will not accept a clinical diagnosis - this is frustrating on the part of the parents because we could gain so much knowlege from others with the same symptoms. Especially when this syndrome is treated by treating the symptoms and complications.

This is going to sound like a silly question - but by any chance does your DD have blond hair and blue eyes - this seems to be very common in VCFS kids - my dd is and I personally know of 3 others - and 2 come from familys with darker hair and eyes

[2boyzmama]

Originally Posted by Lindsay1234

We haent seen the geneticist yet but the cardio doc says she is "Undiagnosed DiGeorge syndrome".

She has several of the markers for DiGeorge including ToF, hypocalcemia, hearing loss, kidney reflux and a couple others but the test came back negative.

The thing with her is that her face isnt symmetrical. One eyeball is larger than the other and so is one nostril. She has a characteristic DiGeorge ear fold but only on one side and not very prominent. She is hitting milestones and her motor skills are right on track. She doesnt want to eat becasue of an aversion, not because there is something malformed.

Her doc says we are going to treat her as a DiGeorge kid until we can get genetic testing (which is WAY at the bottom of her medial list!)

Connor has facial asymmetry, external and internal (and he has verified DiGeorge/VCFS/22q). His left side is smaller than his right, including his ear, nasal passageway (they thought he had choanal atresia at one point), his ear canal, his ear drum, his lower jaw (he had mild Pierre Robin Sequence), and even his larynx. I don't know if his left eye is smaller, but it is definitely different than his right. He doesn't have characteristic 22q eyes yet, his eyes are big and round, not too almond shaped or hooded (although sometimes I snap a picture of him at just the right angle and they look almond and hooded).

Have you looked into Stickler's or Hemifacial Microsomia? Or CHARGE? Those are other syndromes that come to mind that have facial asymmetry. It's been a while since I've research those, though.

22q has HUGE variability in its presentation, for example Connor has no cardiac involvement (a minor murmur found at 11 months), never had hypocalcemia (that we know of, although we didn't test for it until his diagnosis at 11 months, and sometimes they grow out of that).

Originally Posted by momtoalexsarah

Megans diagnosis is a CLINICAL diagnosis of VCFS (same a DiGeoge - normally a 22Q deletion) Her test has come back negative twice - they didn't belive it the first time. Her heart defect is minor (arotic stenosis at 1 year of age and is now withing proper tolerances) so it has corrected itself. Megan though had mild PRS as an infant and has the more severe form of submucus cleft palate (grade 2 full cleft soft palate and grade 2 submucus cleft of the hard palate) she also has hypertolism, mild hypotonia and mild immune deficency. Megans ears are a little "odd" but not quite typical for VCFS - as she gets older they are starting to cup out a little. She was a little delayed in gross motor, and very delayed in speech(still is as far as articulation -even 9 months post surgury). Her fine motor and cognative are at or above average. I think that as genetic technology gets more advanced they will find other genetic deletions/duplications ect that mimic 22qdel and I firmly belive that they should still allow for a clinical diagnosis of the syndrome even without a positive genetic test. There are many doctors - and parents groups that I've found will not accept a clinical diagnosis - this is frustrating on the part of the parents because we could gain so much knowlege from others with the same symptoms. Especially when this syndrome is treated by treating the symptoms and complications.

This is going to sound like a silly question - but by any chance does your DD have blond hair and blue eyes - this seems to be very common in VCFS kids - my dd is and I personally know of 3 others - and 2 come from familys with darker hair and eyes

Well, you know what Connor looks like...light hair (not quite blonde) and BLUE BLUE eyes, but that comes from me. I know two other 22q kids locally, one is black, one is Lebanese. Both look like their parents, no more fair. All the "official" research claims that heritage means nothing for increasing the chances of the deletion, and that you can be of any race and have it, but I wonder if they'll eventually find that it's more common with certain gene combinations (i.e. if a child picks up a recessive light-skinned gene from both parents, are they more likely to pick up an instability on the 22nd chromosome??) Having said that, though, Connor looks just like my older son, and although we haven't tested our older son, there's no signs of any issues that would prompt us to test.

I'm pretty sure I"m going to have this new baby tested right away, though, because I don't think I'll be calm enough to sleep deeply until I know he's healthy. Connor's newborn stage and infant months were so hard on me, I want to have a picture of this baby's complete chromosomes as soon as possible.

[Lindsay1234]

Originally Posted by 2boyzmama

Connor has facial asymmetry, external and internal (and he has verified DiGeorge/VCFS/22q). His left side is smaller than his right, including his ear, nasal passageway (they thought he had choanal atresia at one point), his ear canal, his ear drum, his lower jaw (he had mild Pierre Robin Sequence), and even his larynx. I don't know if his left eye is smaller, but it is definitely different than his right. He doesn't have characteristic 22q eyes yet, his eyes are big and round, not too almond shaped or hooded (although sometimes I snap a picture of him at just the right angle and they look almond and hooded).

Have you looked into Stickler's or Hemifacial Microsomia? Or CHARGE? Those are other syndromes that come to mind that have facial asymmetry. It's been a while since I've research those, though.

22q has HUGE variability in its presentation, for example Connor has no cardiac involvement (a minor murmur found at 11 months), never had hypocalcemia (that we know of, although we didn't test for it until his diagnosis at 11 months, and sometimes they grow out of that).

Thank you for that info. I doubt its CHARGE or HM but Sticklers might be an option. Here s few pics of my babe. If you can see it, her left iris is much larger than the right and her right nostril is a little smaller than the left. Her right ear also is a tiny bit...smushed.

The thing is, not many of the features Im talking about are really THAT prominent. DH says because she was such a huge baby (11.5lbs) she was just smushed in utero and thats the result. The side that her smushed ear is on, the nose is smushed.

I just wonder if some of her red flags might not be red flags?

http://i40.photobucket.com/albums/e2...ywalsh/638.jpg
http://i40.photobucket.com/albums/e2...ywalsh/490.jpg
http://i40.photobucket.com/albums/e2...ywalsh/655.jpg

[peacetoyou77]

My 2-year-old son has a duplication on the 15th chromosome called dup15q syndrome. It happens about 1 in 20K births. He is autistic, has significant gross motor and fine motor issues, dev delays in all areas, and multiple allergies and gut issues.

I have had the exact same thought as you: if it were Down's, I could find local people in my community. (Also, people would know just by looking at him and I wouldn't have to hear ignorant remarks about his behavior--another topic entirely). Nobody has heard of this syndrome unless their kid has it.

We grieve, which is never a neat and tidy process. But I try to remind myself of the great comfort and relief I found with my son's diagnosis when we finally got it after a year of searching for answers. At least now we know what we are facing. There are so many kids with autism and undiscovered syndromes. They go undiagnosed--and remain that way--and their parents wait and wonder and worry about what caused their children to suffer. I'm actually grateful for our diagnosis, and I pray that all parents of special needs kids with undiagnosed syndromes find their answers.

Jean

[askew]

Lindsay1234- Your daughter is so cute!

[pimms]

I defintiely understand feeling like you wish it were just something more "common". My DH and I felt so alone for so long. My son has CHARGE Syndrome, which has been mentioned here a few times. When he was born over 6 years ago, there wasn't any information for parents in terms of support. Navigating the medical portion was very intense in the beginning, he has a number of the congenital defects as well as global developmental delays. I did have an amnio after his ultrasound showed 4 soft markers, and they ran the entire test TWICE after he was born. They thought for sure he had DiGeorge's or another one called Dandy Walker. But the chromosomes they test came back normal each time.

I did meat a Mom of a little girl who has Marfan's Syndrome, while our kids were in the CICU together. We had these two little couple month olds, our first babies with somewhat rare conditions and all we could do was shrug our shoulders at each other. We knew we were in for a long haul, but had no idea what that meant.

I can't say I have found a lot of solace in the diagnosis, each kid is so different and has a unique set of challenges. THere is such a broad range of defects with CHARGE, as many of these more rare conditions. And I often think I am too late being here on this board, we've made it through so many of these challenges. But I want to be here for someone who does have that new baby with CHARGE and needs a hand to hold hers.

Congratulations on the birth of your baby!

[ainh]

ack...my long post was eaten by the computer i think?

anyway. we just got a referral to geneticist for my 8 month old son. neonatally they discovered he had a pelvic kidney, but no one mentioned a geneticist at that time (???). anyway. now it's clear that one of his eyes is smaller and that he has ears that stick out and some of his fingers are very pointy. his weight at birth was 9 pounds (at 41 weeks), but he has dropped to 20th for weight and 60th for height. he's not a big eater or nurser, but he has a SEVERE wheat allergy (hives on contact and chronic eczema on his ankles).

developmentally he seems pretty average. smiles and razzes and babbles a little bit. almost crawling and sitting unsupported at 6 months. also good fine motor. not into eating food -- only leaves and paper

anyway. i just feel crappy. i feel like "has everyone been seeing this but me?", you know? doesn't help that we can't get into to see the geneticist for SIX MONTHS! is there any testing that my pediatrician could get done/ordered before then? i have become a master of life threatening food allergies and know more than half the allergists we've seen...but now i feel like i'm starting all over again. and i worry for my boy.

[askew]

Originally Posted by ainh

is there any testing that my pediatrician could get done/ordered before then?

I think your Ped could order a chromosome analysis. They do a blood draw at a lab. I know that my husband and I are having our blood draws for chromosome analysis at the same lab I had all my pregnancy lab work done. The genetics department wrote us an order and we can go to any lab. I think in order to get the super expensive micro-array you need to see the geneticist, but I bet your ped could just order the simple test. Just know that those can sometimes miss things so if it is negative you might want to still follow up.

[ainh]

Thanks for the info angelika. I am feeling a tad less stressed as the days go by. I almost wish that they hadn't noticed all his asymmetries and pelvic kidney so early. It really is hard to just look at him without wondering. Like when he cries-- I'm trying to note if his facial muscles are working differently on both sides instead of simply comforting him immediately. Ugh. Thanks for reading. I know our situation isn't terrible, but I was just shocked at the geneticist referral.

[Raene]

I am so thankful this post was started. We just had our baby 8 days ago and she has a problem with Chromosome 15. Part is missing and something else has been added, though what is missing and what's added is yet to be concluded. We wait and wait for test results while our baby suffers at the hands of uncaring medical people. They won't let us bring her home from the NICU and they continue to torture her. We are afraid she's going to turn into their lab rat since the condition she has, according to the geneticist, we will be LUCKY to find a half dozen others with.

How do you cope with this? I'm an attachment parent and I'm not even allowed to hold my daughter (right now her bili levels are low). She's at a hospital over an hour away and we can't spend all of our time there b/c we have a 5 1/2 yr old to take care of too (who isn't allowed in the hospital).

I don't know how to get through this. The doctor even told us we're not ALLOWED to take her home. Where have our rights gone as parents? I feel so helpless and cry every hour for my poor DD.

[felix23]

Originally Posted by Raene

I am so thankful this post was started. We just had our baby 8 days ago and she has a problem with Chromosome 15. Part is missing and something else has been added, though what is missing and what's added is yet to be concluded. We wait and wait for test results while our baby suffers at the hands of uncaring medical people. They won't let us bring her home from the NICU and they continue to torture her. We are afraid she's going to turn into their lab rat since the condition she has, according to the geneticist, we will be LUCKY to find a half dozen others with.

How do you cope with this? I'm an attachment parent and I'm not even allowed to hold my daughter (right now her bili levels are low). She's at a hospital over an hour away and we can't spend all of our time there b/c we have a 5 1/2 yr old to take care of too (who isn't allowed in the hospital).

I don't know how to get through this. The doctor even told us we're not ALLOWED to take her home. Where have our rights gone as parents? I feel so helpless and cry every hour for my poor DD.

Raene, I have been following Cedar's story from your ddc, and I'm just heartbroken for both of you. I don't have any advice about the chromosome disorder, but as a mom of a former preemie, I encourage you to check out the preemie/NICU parenting section here at mothering. There is a lot of great advice and support on how to deal with the NICU.

You can still be an attached parent when you can't hold your baby. Just touching and talking to her will make her feel more secure.

[preemiemamarach]

Raene- as someone who has btdt (both as the mother of a medically fragile child *and* as a former peds nurse), I can promise you that the doctors and nurses are not uncaring, nor do they see her as their guinea pig. They are working hard to help her! Nicu/picu is a very emotionally draining specialty, and we don't go into it to hurt kids.

If she is under continuous lights (I assume that's why they won't let you hold her), it means her bilirubin is quite elevated and the more time she spends away from them, the harder it will be to get her levels down. When my son was in the nicu, he had to go through four rounds, several days each, of double bili lights- every time I tried to spend time holding him (even with the bili blanket) his levels would shoot up again.

It's extremely hard to deal with having a child with an unknown prognosis- my son is 26 months old and we still have no diagnosis for him. I encourage you to take advantage of any services the hospital has- I still contact the social worker each time my son is admitted (we've done 11 admissions in the last year) to have someone to support me. I have also called the chaplain, even though I am not religious. I also routinely sit down with the charge nurse or the attending to review the plan of care and ask questions- I always have plenty of questions, and I went to school for this stuff!

Is there a reason you want to take her home, besides the obvious desire we *all* have to have our children healthy enough to go home? If she is undergoing continuous phototherapy for jaundice, it sounds like the nicu is the best place for her right now.

Also- I am a very attached parent; many of my son's doctors have commented on how happy and secure he is, in spite of what he's endured. You can be attached while your child is in the hospital! It's harder, for sure, but attachment parenting is about doing everything you can to meet the needs of your child. My son was unable to nurse because of poor oral muscle tone, so I EP'd for him until he could no longer digest breastmilk at 12 months. Even though we couldn't have a typical nursing relationship, this was one way I *could* respond to his needs.

Again, please try to remember that the personnel at the hospital are NOT out to torture your baby- they are there to help her be as healthy as she can be.

[Epona]

♥

[BookGoddess]

Originally Posted by Raene

I am so thankful this post was started. We just had our baby 8 days ago and she has a problem with Chromosome 15. Part is missing and something else has been added, though what is missing and what's added is yet to be concluded. We wait and wait for test results while our baby suffers at the hands of uncaring medical people. They won't let us bring her home from the NICU and they continue to torture her. We are afraid she's going to turn into their lab rat since the condition she has, according to the geneticist, we will be LUCKY to find a half dozen others with.

How do you cope with this? I'm an attachment parent and I'm not even allowed to hold my daughter (right now her bili levels are low). She's at a hospital over an hour away and we can't spend all of our time there b/c we have a 5 1/2 yr old to take care of too (who isn't allowed in the hospital).

I don't know how to get through this. The doctor even told us we're not ALLOWED to take her home. Where have our rights gone as parents? I feel so helpless and cry every hour for my poor DD.

My daughter was born not breathing. She coded and we're lucky that she's even here today. Everyone thought she was not going to make it. I still won't forget the touch and go moments of her birth when we weren't sure if the hospital staff could resucitate her. I will be forever grateful to the help we got at the hospital. My daughter spend some time in the NICU. I can tell you the doctors and nurses in the NICU are not uncaring people torturing your baby. I promise you that. These people aren't taking any pleasure from doing lab tests on very young babies. They do it because they want to help. The tests and procedures they are doing may not be to your liking but those things are being done so they and you learn more about Cedar's condition.

If it were me I would want to know as much information about the condition as possible. I wouldn't even want to bring my child home before all the tests had been done. I'm not sure why you would want to take her home right now. The more informed you are the better your ability to take care of her and help her to grow and function. I've read your other posts and from what I can tell Chromosome 15 is not a fatal/terminal condition. It doesn't seem to be incompatible with life. There is no reason to think that your daughter will die. If anything she will get better from the jaundice soon. After that you will have to learn to take of her. It's not easy to be the parents of a SN child. None of us in this forum expected it. But guess what? Life happens. No one plans on having a SN child. We have to deal with what happens and move on. And you will find the strength within you to do the same, I hope.

Couldn't you and your partner take turns going to the hospital? Do you have family or friends who could watch your older child? It is so important that Cedar get to see you and hear you every day. You could read to her. You could sing to her. You could just be there next to her. AP doesn't mean you have to hold her to be an AP parent.

[KatWrangler]

Mama,

Get yourself to the hospital to take care of this baby! Let your partner take care of your other children.

You need to get a Social Worker involved. You NEED HELP!

[Epona]

♥

[simonee]

Raene, I just read about your whole ordeal. I'm so sorry this happened. Having 'seen' you around here during your pregnancy, something seems to have broken in you. I really believe you could be such an example to other SN parents, you are intelligent and stand behind your choices. You didn't give up when things were hard during pregnancy, you can't give up on your baby!

We're all looking at you to show yourself, us, the people in the hospital, but most of all your precious Cedar what a strong mama bear you are, how you can overcome all these odds that seem stacked against you know but that will collapse like a card house once you come roaring at your full strength.

Chromosomal 'deviations' are very hard to diagnose, often go undiagnosed. Likely you or Cedar's father is a carrier. It happened at or before conception, it's nothing you could have influenced. Many people live long, happy, fulfilled lives.

It sounds like your hormones and the shock have taken you on a wild ride, and your current feelings and ideas are flying around you like long hair on a rollercoaster, but your baby deserves a chance to live with such a great mama, to have a mama who fights harder for her than the rest of the world combined.

The people in the hospital don't choose their work becuase they're mean and want to hurt babies; they want to help. But they're under massive stress too. Cedar might be one of their 'easier' cases, as she seems generally healthy and is already able to drink! It hurts to see a baby hurt, but it will hurt more if you never gave her a chance and there won't be another one. She needs you to fight for her; you can't expect a baby in NICU to do all the fighting by herself. And if you are unable to fight for your baby, you should really seek help or wonder if you really want a baby or whether you have a need for 'perfection' that no person, no matter how small and how perfectly born, can ever be expected to fulfill.

Hugs to you mama.