Rare Chromosome Disorders/Syndromes? - Mothering Forums
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#1 of 87 Old 08-17-2009, 03:41 PM - Thread Starter
 
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How many of us here have children with rare chromosome disorders? My DD, 6 weeks old, was recently diagnosed with a deletion on one of her chromosomes. It seems so hard to find information and support when so few people in the world share the same diagnosis. Sometimes I wish she had Down syndrome so I could at least join the support groups and meet other people in the same boat. The syndrome my DD has appears to have many of the same difficulties and potentials as Down syndrome but we can't be entirely sure as there are only 140 cases known in the world. It is such a hard adjustment to make and reality to come to terms with. Are there any other parents dealing with something similar?
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#2 of 87 Old 08-17-2009, 04:19 PM
 
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Ds,8yo, has a microdeletion in his 2nd chromosome.His geneticist feels it caused his heart defects as well as his autism.But since she knows of only one other child in the US with the same deletion,she can't be sure.She doesn't know much about that child,only that he or she has the same deletion.We're not sure how many worldwide have this either.Thankfully ds is happy and healthy right now,so I try to take it day by day and not worry too much(easier said than done of course).

Student mama to one awesome,talented and unique dd,15 and one amazing, sweet and strong ds,12(born with heart defect Tetralogy of Fallot,also on the autism spectrum),9 cats,and 2 gerbils.
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#3 of 87 Old 08-17-2009, 05:08 PM
 
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DS who is 5 now, has a deletion on chromosome 15. He was diagnosed with Angelman's Syndrome when he was 10 months old. His condition happens in 1 in 30000. When Mason was diagnosed I had a lot of thoughts, most of them about how I thought I was getting one child, but really the plan changed very quickly and I had to grieve it. My husband had a very hard time coming to grips with it and there was a lot of work that we needed to do to get past it. The next realization rocked my world, though. This child was chosen for us, and we were chosen for him. We were put in charge of protecting him, making sure he was well, and making sure he was loved. What more can you ask for?? We are Mason's voice and I think that there is something very empowering in that. Sure, some days are not so good, but it always comes around. Know that most mothers and families of children with disabilities are one huge group and are willing to offer support.
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#4 of 87 Old 08-17-2009, 05:49 PM
 
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((hugs)) for you. It's hard to get a diagnosis when your DD is so young. Congratulations on her birth!

My DD (5 years old) has a partial deletion on chromosome 9 (Alfi's syndrome). Also very rare. Have you found the chromosome disorder outreach group? If you send them the karyotype, they will look in the database for any "matches" and get you in touch with other families. They also run a Yahoo e-mail group. www.chromodisorder.org

One thing some of the experienced Moms on that mailing list emphasize is that you have a "diagnosis" but not a "prognosis." Your child will write her own book.

For example, according to the one published paper on my daughter's syndrome, she would be expected to have an "intellectual disability" (aka mental retardation), but we see no signs of that. Our DD has issues with fine and gross motor skills but all of her teachers and therapists agree that she's very bright.

Good luck to you!

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Originally Posted by angelika13 View Post
How many of us here have children with rare chromosome disorders? My DD, 6 weeks old, was recently diagnosed with a deletion on one of her chromosomes. It seems so hard to find information and support when so few people in the world share the same diagnosis. Sometimes I wish she had Down syndrome so I could at least join the support groups and meet other people in the same boat. The syndrome my DD has appears to have many of the same difficulties and potentials as Down syndrome but we can't be entirely sure as there are only 140 cases known in the world. It is such a hard adjustment to make and reality to come to terms with. Are there any other parents dealing with something similar?
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#5 of 87 Old 08-17-2009, 06:11 PM - Thread Starter
 
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((hugs)) for you. It's hard to get a diagnosis when your DD is so young. Congratulations on her birth!

My DD (5 years old) has a partial deletion on chromosome 9 (Alfi's syndrome). Also very rare. Have you found the chromosome disorder outreach group? If you send them the karyotype, they will look in the database for any "matches" and get you in touch with other families. They also run a Yahoo e-mail group. www.chromodisorder.org

One thing some of the experienced Moms on that mailing list emphasize is that you have a "diagnosis" but not a "prognosis." Your child will write her own book.

For example, according to the one published paper on my daughter's syndrome, she would be expected to have an "intellectual disability" (aka mental retardation), but we see no signs of that. Our DD has issues with fine and gross motor skills but all of her teachers and therapists agree that she's very bright.

Good luck to you!

Davidah

My daughter has the same deletion/ syndrome. You have no idea how incredible it is to hear you say that your daughter has no "intellectual disability". Even if she is the only one, just to know that there is that potential is the best thing I have heard in weeks. I have found all the internet groups and resources, but they make me feel worse at this point, not better. Too much information, too many variables. I really wish we had had time to get to know our DD first before having all the information. However, she was a NICU baby and they did every test imaginable on her so here we sit with the diagnosis almost as soon as we met her. Pretty incredible that for as rare as their syndrome is, here we sit two on MDC.
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#6 of 87 Old 08-17-2009, 07:33 PM
 
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Originally Posted by angelika13 View Post
My daughter has the same deletion/ syndrome. You have no idea how incredible it is to hear you say that your daughter has no "intellectual disability". Even if she is the only one, just to know that there is that potential is the best thing I have heard in weeks. I have found all the internet groups and resources, but they make me feel worse at this point, not better. Too much information, too many variables. I really wish we had had time to get to know our DD first before having all the information. However, she was a NICU baby and they did every test imaginable on her so here we sit with the diagnosis almost as soon as we met her. Pretty incredible that for as rare as their syndrome is, here we sit two on MDC.
I agree that it's hard to get the diagnosis before "meeting" your DD. We didn't have DD tested until she was 3 years old and we were looking for some answers for her motor delays (and a new Dr. noticed her subtle "facial dysmorphic" features for the same time. The weird thing for me was that I refused all genetic testing during my pg -- refused the triple/quad screen blood test, refused to have an US that looked for soft markers. I said over and over "I want to know my child before having a diagnosis." So it's like I had a premonition of this. (We also have an older DD with a normal karyotype and no issues).

Feel free to PM me if you want more specifics. Our younger DD with Alfi's syndrome is definitely more challenging to raise than her older sib, but she's also a complete delight and everyone loves her. The other day she said "My bladder and my diaper (which she only uses at nighttime) both hold my pee. How are they different?" She also said "Your gums (in your mouth) are like caulk for your teeth." (referring to caulk around the bathtub. Not typical 5-year old things to say! She is incredibly verbal and makes these amazing analogies. (OTOH, her drawing skills are still at a 3-year old level. But that's hardly a major issue).

Good luck to you! Put away the Internet and just enjoy your DD!

Davidah
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#7 of 87 Old 08-17-2009, 07:44 PM
 
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I dont have any kids with chromosome disorders, but I did want to pipe in and agree-the variation in the level of problems with any given diagnosis can vary sooooo much.

This isnt the same but as an example-I had a friend in high school with downs and you'd never guess, except for his appearance and his voice being a bit off. He had a normal intelligence and was pretty cool. I felt kind of bad for him, since everyone assumed he was slow or retarded-but he was planning on having cosmetic surgery to make himself look more normal in the future. I mean, it was understandable-he DID have downs and most kids with downs do have some level of slowness (is that a word? lol), but in his case, it was very hard to deal with.

Anyway, even if your daughter has some issues to whatever degree, she's still her own person and I'm sure you'll love her no matter what! I hope you find more support and that your daughter grows up healthy and happy

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#8 of 87 Old 08-17-2009, 08:25 PM
 
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#9 of 87 Old 08-17-2009, 08:30 PM
 
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My son has a chromosome disorder, but it isn't nearly as rare. He has a micro deletion on chromosome 22, called DiGeorge Syndrome or Velocardiofacian Syndrome. It is the second most common chromosomal syndrome, second only to Down Syndrome.

What has been extremely frustrating to me is that it's supposedly so "common" (birth rate estimated at 1:2000-1:4000) yet so few of his drs have heard of it, or they've heard of it but aren't very well read in it. Many of his drs still plot him on "normal" growth curves, or want to treat his symptoms like they'd treat a "normal" child with the same symptoms (i.e. his speech issues *look* like apraxia or an oral motor dysfunction, so he's being treated for that in therapy, yet the research out there on his syndrome says that it's probably neither and may be a different issue all together; or that even if it is one of those, the therapy for it is different than what you would give a "normal" child with the same issue)

It's all so very complicated!!!

And, Connor doesn't quite fit into the box of his syndrome perfectly either, for example most kids get the diagnosis because of a specific cardiac defect--he doesn't have it. Some kids get the diagnosis because of a certain kind of seizure--to my knowledge he's never had a seizure.

So while I've SEEN the picture of his chromosomes, and I KNOW he has the syndrome, he is, as davidah said, writing his own book. And I sure wish I could read that book to the end NOW, but alas, I can't.

Mommy to BigBoy Ian (3-17-05) ; LittleBoy Connor (3-3-07) (DiGeorge/VCFS):; BabyBoy Gavin (10-3-09) x3 AngelBaby (1-7-06)
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#10 of 87 Old 08-17-2009, 08:48 PM - Thread Starter
 
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Thanks, I have actually been there. It is a great resource.
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#11 of 87 Old 08-17-2009, 09:23 PM
 
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Thanks for starting this thread! My daughter apparently has some genetic disorder, but we don't know what it is yet. All the specialists that have seen her so far have been mystified. They keep telling us she's "unique" - yeah, thanks, ALL babies are unique!

So we're in the midst of more extensive genetic testing and evaluations. It feels like a very slow process, and I hate putting her through all the tests. We have been told that it may be years before we get a diagnosis, or we may never know. I hope we learn something soon, it's hard to be patient. And if we knew what was going on, at least maybe we could find some support. It's hard being so unique!

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#12 of 87 Old 08-18-2009, 12:36 PM
 
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My son has an inversion, deletion and duplication on his 8p chromosome. It's been an interesting ride because his mutation is so rare that there are only 18ish recorded cases and there are no "standard" issues related to his condition. He's only 3 months old so we're still new to it all. Have you checked out www.rarechromo.org? There is some good information there as well.
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#13 of 87 Old 08-18-2009, 02:01 PM
 
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I was actually just coming on here to post about this myself. My son was recently diagnosed with 22q11.2 Distal Deletion. The symptoms are similar to diGeorge and VCF but it's a different part of chromosone 22 that's deleted. My son is only the 10th reported case. My son's geneticist gave me these two websites - rarechromo.org and chromodisorder.org I'd love to find some of the other 9 families who have kids with this same syndrom.

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#14 of 87 Old 08-18-2009, 04:59 PM
 
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I was actually just coming on here to post about this myself. My son was recently diagnosed with 22q11.2 Distal Deletion. The symptoms are similar to diGeorge and VCF but it's a different part of chromosone 22 that's deleted. My son is only the 10th reported case. My son's geneticist gave me these two websites - rarechromo.org and chromodisorder.org I'd love to find some of the other 9 families who have kids with this same syndrom.
I'm on a 22q yahoo group (which I actually don't like, they're WAY too medicalized on there, and no where near "crunchy", but I lurk the posts to see if there's any new research). Anyway, I *think* that's where I first heard of a distal deletion. You might look up the various 22q/DiGeorge/VCFS yahoo groups and post there.

Mommy to BigBoy Ian (3-17-05) ; LittleBoy Connor (3-3-07) (DiGeorge/VCFS):; BabyBoy Gavin (10-3-09) x3 AngelBaby (1-7-06)
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#15 of 87 Old 08-18-2009, 08:47 PM - Thread Starter
 
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Feel free to PM me if you want more specifics.
Davidah
Sent you a PM, thanks!
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#16 of 87 Old 08-19-2009, 12:25 AM
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My 5 yo (officical dx of PDD-NOS) has 2 microduplications on his 2nd chromosome, and the geneticist says it isn't clear if either of them are the cause or contributing to his ASD. In terms of support, I've found that working with a really knowledgable geneticist at a large research hospital has been key - when we started on this journey, we were seeing local doctors who at first dismissed my concerns about DS's development, and then when he was diagnosed, basically dismissed him and his potential.
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#17 of 87 Old 08-19-2009, 01:52 PM
 
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My daughter has a partial deletion of chromosome 5, known as cri-du-chat syndrome. She is almost six months old now and we found out not long after she turned two months. It is pretty rare. It is tough when some of the doctors that we see know less about the syndrome than we do and have never met or worked with anyone else with the same syndrome. There are some support groups for the syndrome and that definitely helps.

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#18 of 87 Old 08-19-2009, 08:14 PM
 
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My son (5) has a microduplication on chromosome 17p.11.2. We're actually in the middle of contacting a variety of doctors/researchers because the duplication really has no name yet, although it's thought to be the cause of his delays/autism (after much discussion with doctors over a 2 year period). Although nobody is super sure, because the science has not caught up to say they are 100% positive. But I know in my heart that it's the reason for his delays.

On another note, he's a super kid and you'll never meet anyone like him! :
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#19 of 87 Old 08-20-2009, 01:42 AM
 
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Originally Posted by EarthyMamaofDaisy View Post
I was actually just coming on here to post about this myself. My son was recently diagnosed with 22q11.2 Distal Deletion. The symptoms are similar to diGeorge and VCF but it's a different part of chromosone 22 that's deleted. My son is only the 10th reported case. My son's geneticist gave me these two websites - rarechromo.org and chromodisorder.org I'd love to find some of the other 9 families who have kids with this same syndrom.
This is one of the syndroms that they are thinking they may test Megan for as if we chose to do more testing. She has a clinical diagnosis of VCFS, with a negative test for the typical 22deletion. Currently we are just going with the VCFS untill we see what happens as she gets older, she is doing well, speech is comming along pretty good after they fixed her cleft palate. Congnitavly she seems to be very bright so we may not have any/ or just minor delays there.
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#20 of 87 Old 08-22-2009, 01:41 AM
 
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My daughter has a weird situation - the disorder she has been diagnosed with is very well known, it's cystic fibrosis - except that the genetic mutation she has on the CFTR gene is extremely rare (they have just one other case on record) and that patient presented in a very unusual way. So we are tracked into all this care and all these treatments for cystic fibrosis that assume we have the classic presentation of the disease, when in fact, her clinical test results are all either normal or almost normal -- nothing about her matches classic cystic fibrosis so far. Which is good, because classic cystic fibrosis is a pretty awful diagnosis. But we join you in the terror/uncertainty/hope/mystery of her prognosis -- no one can tell me if she'll get sick or not, or if so, how. We can only watch and wait.
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#21 of 87 Old 08-26-2009, 01:12 AM
 
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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.

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#22 of 87 Old 08-26-2009, 05:39 PM
 
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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."
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#23 of 87 Old 08-26-2009, 08:38 PM
 
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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!)

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#24 of 87 Old 08-28-2009, 12:32 AM
 
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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
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#25 of 87 Old 08-28-2009, 05:52 PM
 
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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).
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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.

Mommy to BigBoy Ian (3-17-05) ; LittleBoy Connor (3-3-07) (DiGeorge/VCFS):; BabyBoy Gavin (10-3-09) x3 AngelBaby (1-7-06)
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#26 of 87 Old 08-29-2009, 01:53 AM
 
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Originally Posted by 2boyzmama View Post
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

wife. dd1 : dd2
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#27 of 87 Old 08-29-2009, 11:49 AM
 
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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
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#28 of 87 Old 08-29-2009, 03:59 PM - Thread Starter
 
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Lindsay1234- Your daughter is so cute!
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#29 of 87 Old 08-30-2009, 09:15 PM
 
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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!
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#30 of 87 Old 09-01-2009, 04:57 PM
 
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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.
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