Rare Chromosome Disorders/Syndromes? - Page 3 - Mothering Forums
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#61 of 87 Old 09-09-2009, 07:38 PM
 
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: infinity + 1

(epona's original post, highlighting some other, well spoken posts)

Mom to 10yo Autistic Wonder Boy and 6yo Inquisitive Fireball Girl . December birthdays.

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#62 of 87 Old 09-10-2009, 09:39 AM
 
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Doctors suspect my daughter has some sort of genetic disorder, but it still hasn't been diagnosed yet. We go for testing every 6 months. She will be 3 in November. It is a frustrating process.
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#63 of 87 Old 09-25-2009, 02:09 AM
 
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Originally Posted by momtoalexsarah View Post
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
I didnt keep up with the board and I didnt se eyour question, sorry!!!

My dd2 has this beautiful auburn hair and brown eyes. Heres a pic and another

I think I misunderstood something in all these Digeorgeish posts. Is DiGeorge the same as 22q and VCFS? My doc said something about VCFS the other day and I had thought it was different but its not?! Clueless here.

wife. dd1 : dd2
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#64 of 87 Old 09-25-2009, 02:14 AM
 
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Originally Posted by 2boyzmama View Post

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.

.
Im just revisiting this thread to look more things up, the doc said something about VCFS in Sophia and Im just..confused with all these terms!.

Sophia looks JUST like her sister so Im a little doubtful of so many things.

I just checked your blog and I see youre "due" in a few hours!!! Whoa! Hopefully, the baby will come soon and good luck!!!

wife. dd1 : dd2
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#65 of 87 Old 10-08-2009, 03:00 PM
 
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Hi, I found this forum by doing a google search. My son is 23 months old and we recently learned that he has a microduplication of chromosome 17p13.2p13.1

He is very tiny for his age – weight is 18.5 lbs and height is 30.3 inches. He has failure to thrive. He has no interest in eating, and when he does eat it is only small amounts. He does not have any reflux or any BM issues. He has mild dysmorphic features. He has speech delay – he has no words yet, only sounds. However he can comprehend. He has mild fine/gross motor delays. He had hernia surgery at 6 months old. He has consistently had mildly elevated liver enzymes, however we are not sure this is related to his chromosome disorder – but we are still unable to determine the cause. He was originally diagnosed with Russell Silver Syndrome and my husband and I were not 100% convinced that was the right diagnosis so we got a 2nd opinion and did the chromosome testing and learned that RSS was the wrong diagnosis.

Looking for other parents out there that might have similar traits as my son so we can maybe compare notes, support each other, etc. Also wanted to post his specific mapping so if other parents in the future learn of their kids having this same disorder they can contact me. Also looking for other websites that are helpful with chromosome disorders. Thank you!
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#66 of 87 Old 10-08-2009, 05:03 PM
 
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Logan's Mom:

My DS has a microduplication on 17p11.2.

Check out the following group: familyofchromosome17disorders@yahoogroups.com

Also, check out the Unique website. If you google it, it should come up. I believe it's a group based out of Great Britain which collects data on all chromosome disorders. They just came out with a new brochure which gives a great overview on chromosome 17 disorders.
http://www.rarechromo.org/informatio...17p%20FTNW.pdf

I think it's great that you've found out so soon about his duplication because now you can get help early!

HTH,
Caroline
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#67 of 87 Old 10-08-2009, 07:09 PM
 
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Originally Posted by Lindsay1234 View Post
I didnt keep up with the board and I didnt se eyour question, sorry!!!

My dd2 has this beautiful auburn hair and brown eyes. Heres a pic and another

I think I misunderstood something in all these Digeorgeish posts. Is DiGeorge the same as 22q and VCFS? My doc said something about VCFS the other day and I had thought it was different but its not?! Clueless here.
The names are so confusing! I'm NAKing my 5 day old, so I can't find the link, but google "Dr Shprintzen and The Name Game" he wrote an article about the confusing names of genetic syndromes. 22q and VCFS are the same thing. DiGeorge Syndrome is also the same, however there is such a thing as DiGeorge Sequence which is referring to the immune deficiency and hypocalcemia. Sometimes the sequence can be seen OUTSIDE of a syndrome, meaning a child has an immune deficiency and hypcalcemia, but no other medical issues, and no chromosomal deletion.

Some people separate VCFS and DiGeorge, saying that VCFS is the syndrome, and DiGeorge is VCFS WITH absent thymus (which means severe immune deficiency, plus everything else that comes with VCFS). In my son's case, he has a verified 22q deletion, and a partial thymus, so I usually say he has VCFS and partial DiGeorge Sequence.

Confusing enough??
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Originally Posted by Lindsay1234 View Post
Im just revisiting this thread to look more things up, the doc said something about VCFS in Sophia and Im just..confused with all these terms!.

Sophia looks JUST like her sister so Im a little doubtful of so many things.

I just checked your blog and I see youre "due" in a few hours!!! Whoa! Hopefully, the baby will come soon and good luck!!!
My two (well, now three!) sons look very similar, but Connor has some subtle features that separate him. First and most noticeable is his ears, they are missing the anti-helix which gives them a "cupped" appearance. He also has canal atresia, although you have to know what you're looking for to notice that. He was born with mild Pierre Robin Sequence, but that actually is hereditary on my side of the family (I have it, my mom had it severely). His eyes are somewhat wide-spaced, but so are Ian's and mine. As Connor gets older, he's starting to develop more of the physical signs, his fingers for example are becoming noticeably tapered, his big toes are noticeably larger in comparison to his tiny tiny feet, and of course his stature is very small (23 pounds at 2.5 years old).

I know a few other 22q kids locally...one of them has very noticeably hooded eyes and has the wide nose seen in a submucous cleft palate. He also has one "crimped" ear, but otherwise looks just like his sister (who is unaffected). Another is black, and I honestly can't see any features in him, other than his small size and he has severe developmental delays that are rather extreme for 22q.

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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#68 of 87 Old 10-09-2009, 12:36 PM
 
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Logan's Mom:

My DS has a microduplication on 17p11.2.

Check out the following group: familyofchromosome17disorders@yahoogroups.com

Also, check out the Unique website. If you google it, it should come up. I believe it's a group based out of Great Britain which collects data on all chromosome disorders. They just came out with a new brochure which gives a great overview on chromosome 17 disorders.
http://www.rarechromo.org/informatio...17p%20FTNW.pdf

I think it's great that you've found out so soon about his duplication because now you can get help early!

HTH,
Caroline

Thank you so much Caroline!!
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#69 of 87 Old 10-12-2009, 04:13 AM
 
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my son has a 5q15 deletion. I can't seem to find another person with just the 5q15, they all have multiple deletions along with it.

We haven't had the diagnosis long, my son is 4. I tried for a long time to find out what was wrong with him, everyone acted like I was crazy. I knew in my heart he was not 'normal'.

The geneticist pointed out some features related to the chromosome deletion, such as webbed fingers, wide spaced eyes, nodules on one ear, and the palmar crease on one hand...and after reading fourms I discovered he has a sacrel dimple. The geneticist over looked this. When ds was an infant it was very noticeable. We used to laugh about his crooked butt crack, when all along it could have been the first sign of the deletion. It isn't all that visible now. He is bottom heavy...I wonder if that is a result of the deletion?

Anyhow, my sons major struggle is with speech. He has a large vocabulary, you just can't figure out what he is saying. He has a hard time intellectually, meaning he has a hard time remembering how to count past 5 and he can't recite his alphabet and doesn't know his shapes despite repeated schooling on the matter.

Along with the speech, he sees an OT for low muscle tone. He looks rubber band-like when he moves. He is squishy too. He was just a little late with his mile stones but the doctors didn't think anything of it.



Besides his delays, he is very smart. He can do anything. It is hard to hold him back. He knows how to load the dish washer, the way I like it loaded. He can put the soap in and start it on the right cycle. He can load the washing machine and if he could reach it I'm sure he would start it. His chores are to can clean the bathroom (toilet in a house full of boys, they all take turns), pick up his toys and then vacuum his room and make his bed. He can use sissors better than me! He can color better than his 6 yr old brother. His abilities paired with his disabilities really throw me for a loop.

All the other children I come across that have a 5q deletion have much more severe delays/conditions. What makes my son different? Is there something that is going to show up later? I'm terrified about his future. I want my children to be successful as does every other mother. The uncertainty of his condition drives me mad.

I wonder if his deletion has anything to do with the fact he hasn't slept all night since his birth? Well, maybe a few times.
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#70 of 87 Old 10-14-2009, 05:11 PM
 
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Rose was born via repeat C Section at 39 weeks in March of 2006. It took her a little time to start crying, but she did. Later that day, while the nurses were checking on her and cleaning her up, she started to turn blue. For the first few days, she had a handful of “blue episodes”. She had to be put on oxygen and the nurses had to stimulate her to get her to breathe again. Rose was also born with an extra finger and 2 sets of 2 fingers fused together. Both of her hips were very shallow, and could easily pop out of socket (hip dysplacia). Rose had 2 holes in her heart, a PDA and a PFO, both of which are minimal and a VSD. She also has GERD. She was also diagnosed with complex seizures. Some of her abnormal features, all of which are mild include: wide spaced nipples, low set ears, small nose with a wide flat bridge. She also has lazy eyes. When she was born, they sent a sample of her blood, along with ours, for genetic testing to the Mayo Clinic. After being home for only 2 ½ days, Rose turned blue 2 times in 20 minutes. We went straight to the ER where they started to run blood tests, a spinal tap ect. They felt they would not be suited to take care of Rose, so she was transferred to another hospital that has a high level intensive care unit for babies (Central DuPage Hospital). After 12 days in the intensive care unit and many tests, (blood work, urinalysis, Spinal Tap, MRI, ultrasounds, sleep study, CT’s pnuemograms, EEG’s, EKG’s, 2-D cardio echo’s, renal ultrasounds, upper GI, and a swallow study.) it was determined that Rose also had central and obstructive apnea. She was prescribed caffeine to take every morning, which was equivalent to 8 cups of coffee for someone her size. Before leaving we were taught how to use a heart/lung monitor that she wears 24/7.

Fast Forward 3 1/2 years to where we are today at just over 36 months.
She had infantile spasms and has outgrown them. She had the mis-shapened head which she wore a helmet for, and now is pretty good to go. She has a weakened immune system due to steriod treatments from her spasms.

Rose's receptive language is around 18-24 months. Her expressive language is close to 12 months. She can say the word hi and ta ta. She is still on baby food and formula due to poor muscle control and coordination and a few sensory issues. She has just learned how to walk. She still has complex seizures, and is prone to colds and pnuemonia, structually she is abnormal with her trachea, esophagus, and other inside parts..., she still has hypotonia, gerd, a higher than normal pain threshold and more.

She is honestly one of the most happy little kids that you will ever meet. Because of her disorder being so rare, there is not really any support groups around nor is there any help from the government with exception of her getting her therapies in preschool.

I look forward to meeting and talking with you all.

Jen
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#71 of 87 Old 11-22-2009, 01:06 AM
 
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Hi to all... My wife and i have a beautifull little 3 and a Half yr old girl diagnosed with Chromosome 4 Ring Syndrome. Im looking for anyone that has or knows someone that also has C4RS as i call it. So far we have been told she is 1 of about 30 in the world,,,which came as a shock to us. That roughly translates to 1:330million. As far as we are aware there is only 1 other in Australia. We have no idea on what her future holds, how tall she'll grow (she's the height of a 16mnth old), and she's a bit behind in her developement. So if anyone can help,,,or wants a chat with something similar please dont hesitate to drop a line.
Take Care.
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#72 of 87 Old 11-22-2009, 04:17 PM
 
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Originally Posted by muldey View Post
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).
I hope you see this...

My 8 year old daughter was just diagnosed with 2q37.3 deletion, deletion of the 3rd tiny section at the end of chromosome 2. We go to Stanford next month to see a geneticist. It is believed to be a marker for Autism and she has PDD-NOS, amongst LOTS of other things. We also just found out she got it from dh. He has the same deletion.

feel free to email me if you like,m take out the spaces

cocopop @ clearwire . net
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#73 of 87 Old 11-25-2009, 06:30 AM
 
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Hi CoCoPop, I feel for you, its hard knowing that you may have 1 of X amount in your country but cant seem to find anyone else.Like us, we hope to find like wise Parents/ Children. With my wife pregnant with our 3rd child we had a slight scare when the Dr said our unborn was under weight. But,,,id never say no to another child like our little girl! But would it be the same??? Keep in touch mate.
Mike n Kerri
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#74 of 87 Old 11-25-2009, 07:54 AM
 
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While this is bumped, I'll add us to the list. DD was just diagnosed with a 16p11.2 microdeletion. She has some odd medical problems that aren't typical for her deletion so far as I've found. We're waiting on more from the geneticist once our blood tests are back to determine whether it was de novo or not.
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#75 of 87 Old 03-01-2010, 04:43 PM
 
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I brought my 14 month old DS2 to the geneticist on Friday. No info. She seemed very unconcerned with DS and, to be honest, he was unusually "good". At the very end I mentioned on more 'odd thing' and she said something about "bringing him back if he gets more skin abnormalities or has seizures". I pressed her and she said that it could be tuberous sclerosis (http://en.wikipedia.org/wiki/Tuberous_sclerosis). Of course, I didn't have wikipedia at the moment, so I didn't get to look it over until I got home. He does have a little acne on his nose, but not a ton.

I feel rather convinced that there is something up with DS. He had one misplaced (pelvic) kidney, his eyes are different shapes, his ears stick out (people always comment on them) and he bangs his head a lot (to the point of bruising, but mostly it happens if you tell him "no" or if he's tired). Also, it seems like he had a big cognitive set back somewhere in the 10-12 month range and that's when he head banging started. Also, his hearing or understanding/memory seems compromised. And he's quite small for his age (especially compared to his big brother).

I wish I could just have him tested, but I know that even then I wouldn't have all the answers. For tuberous sclerosis, for example, there is a huge range of 'affectedness'. It's so hard to feel like something is wrong and all the doctors say "let's wait until it's MORE wrong".
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#76 of 87 Old 03-02-2010, 05:12 PM
 
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My Dd has an unbalanced translocation resulting in a duplicatin of 3p24.3-3pter and a deletion of 18q23. She's in integrated preschool, says and signs about 250 words, finally started walking last year at 3.5 yrs old, and gets growth hormone for the 18q- syndrome. She had a cleft palate when she was born, other than that, she's been very healthy, thank God.

DD1 7/13/05 DD2 9/20/10
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#77 of 87 Old 07-17-2010, 02:22 PM
 
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My dd's story is very similar. She has a rare chromosome disorder. We were told we were unlikely to find anyone else with the same disorder. I've searched the internet but have not found any further information on her particular condition.

Shortly after birth, dd went blue ten times before being transferred to the children's hospital. She went blue many more times during her stay in the NICU. She was also seen by every specialist in the hospital (cardiology, neurology, genetics, metabolic diseases, etc.). On day 1 we were told that dd was having seizures, on day 2 we were told that she had a heart murmur and they would further investigate, on day 3 we were told that she would have to undergo open heart surgery to repair a large VSD, sometime during week one and two, we were told that she had a chromosome disorder. When we finally received the final diagnosis for her chromosome disorder, the hospital asked us if we wanted to forgo the heart surgery and just take her home and let her be comfortable. We declined and opted for the surgery. At six weeks, our dd underwent open heart surgery to repair the VSD. After the surgery, the surgeon came to talk to dh and me. He advised that when they went in to repair the VSD, they also discovered an ASD as well as a PDA. They made all 3 repairs.

Today she is 24 months old. She is developmentally delayed. She learned to sit unassisted at about 18 months of age, she is able to get around by rolling repeatedly and is very good at positioning herself so that she makes it to her intended target, she can not feed herself but we are working with an OT to get her there, she eats mostly pureed foods but loves her cookies and snacks, she isn't speaking yet but it is very apparent that she understands the spoken language, we are working with her pt and dd will soon be using a stander, we are getting her into AFOs as well to strengthen her upper legs as she has hypotonia, she was also diagnosed with hip dysplasia which has all but been corrected, she also seems to have developed a talent for moving her eyes independently (it's a game to her), still we will take her to see the opthamologist just to make sure that there isn't an issue with her vision, she also has a high pain threshold ... even with all of this, she is the sweetest, happiest little girl.

I know that many people never thought she would make it this far. We saw something in her. We knew she was a fighter!

Question: wondering if anyone else has had issues/concerns about brittle, malformed, or thick toenails, nails?
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#78 of 87 Old 07-18-2010, 12:00 AM
 
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Originally Posted by moomy View Post
My dd's story is very similar. She has a rare chromosome disorder. We were told we were unlikely to find anyone else with the same disorder. I've searched the internet but have not found any further information on her particular condition.

Shortly after birth, dd went blue ten times before being transferred to the children's hospital. She went blue many more times during her stay in the NICU. She was also seen by every specialist in the hospital (cardiology, neurology, genetics, metabolic diseases, etc.). On day 1 we were told that dd was having seizures, on day 2 we were told that she had a heart murmur and they would further investigate, on day 3 we were told that she would have to undergo open heart surgery to repair a large VSD, sometime during week one and two, we were told that she had a chromosome disorder. When we finally received the final diagnosis for her chromosome disorder, the hospital asked us if we wanted to forgo the heart surgery and just take her home and let her be comfortable. We declined and opted for the surgery. At six weeks, our dd underwent open heart surgery to repair the VSD. After the surgery, the surgeon came to talk to dh and me. He advised that when they went in to repair the VSD, they also discovered an ASD as well as a PDA. They made all 3 repairs.

Today she is 24 months old. She is developmentally delayed. She learned to sit unassisted at about 18 months of age, she is able to get around by rolling repeatedly and is very good at positioning herself so that she makes it to her intended target, she can not feed herself but we are working with an OT to get her there, she eats mostly pureed foods but loves her cookies and snacks, she isn't speaking yet but it is very apparent that she understands the spoken language, we are working with her pt and dd will soon be using a stander, we are getting her into AFOs as well to strengthen her upper legs as she has hypotonia, she was also diagnosed with hip dysplasia which has all but been corrected, she also seems to have developed a talent for moving her eyes independently (it's a game to her), still we will take her to see the opthamologist just to make sure that there isn't an issue with her vision, she also has a high pain threshold ... even with all of this, she is the sweetest, happiest little girl.

I know that many people never thought she would make it this far. We saw something in her. We knew she was a fighter!

Question: wondering if anyone else has had issues/concerns about brittle, malformed, or thick toenails, nails?
Hi Moomy! Welcome to MDC

Do you mind sharing what your daughter's karyotype is? You said her chromosome disorder was rare, that she might be the only one...what is it?

My son's disorder is rather common as far as chromosome disorders go (he has 22q11.2 deletion) but I have a cousin who has 7 chromosome abnormalities, a truly unique combination that's never been seen before. From posting on message boards like this we've found a few other people who have some similarities, but no one who has all 7 abnormalities she has.

I'm so happy that your daughter is doing so well!!!

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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#79 of 87 Old 04-17-2011, 06:52 PM
 
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My son has a chromosome 2q32.1 deletion.  He is diagnosed with CP and autism.  His geneticist said that he was the only known case he knew of here (plus we know dad has the same now but functions fine).  We live in Florida.  He is going to be 6 in June. 

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#80 of 87 Old 04-17-2011, 07:18 PM
 
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You may want to check out an organization called NORD (National Organization for Rare Diseases).  If they can't help you directly, perhaps they could steer you towards another resources.  Best of luck...now go kiss that sweet child.


 sleepytime.gif I got tired of my signature, but I still love my children and husband and miss my little brotherkid.gif

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#81 of 87 Old 12-01-2011, 06:27 PM
 
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we have just found out that my niece has a rare chromosome disorder she is now 12 and was told she had retts for the past 10 years

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#82 of 87 Old 12-02-2011, 07:14 AM
 
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Quote:
Originally Posted by RoadWorkAhead View Post

While this is bumped, I'll add us to the list. DD was just diagnosed with a 16p11.2 microdeletion. She has some odd medical problems that aren't typical for her deletion so far as I've found. We're waiting on more from the geneticist once our blood tests are back to determine whether it was de novo or not.

 

 

My son also has 16p11.2 microdeletion.  You should check out Simons VIP.  They have a fantastic study going.  We participated this summer and it was a wonderful experience simonsvipconnect.org

 


Feel free to PM me if you have any questions.


Walking to raise money for Apraxia - feel free to join me if you are in the area or donate http://www.apraxia-kids.org/southjerseywalk/juliefoxx
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#83 of 87 Old 12-11-2012, 05:53 PM
 
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Hi everyone,I am new to mothering,i hope one of the members can relate or know anything about the duplication of the 2q33.1,,my bg was 9wks prem has many many heart and cardiac defects already has had one open heart another one after christmas,she also has extensive brain injury significant with hypoxic ischaemic injury,white matter damage,interventricular hemorrhages,second mri is tuesday,this should give all relevant details and information regarding the severity of the damage and where damage occured and any changes,any info would be appreicaited,teenx

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#84 of 87 Old 05-19-2014, 02:15 PM
 
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Hello Logan's_Mommy,

My daughter, too, was diagnosed with 17p13.2p13.1, in May 2013. I was researching her chromosomal anomaly and came across your post. Her lab work states that "a 128 kb gain at 17p contains part of one gene, TEKT2, which has testis-specific expression. This change is predicted to be benign." According to this report, it is not likely that her anomaly is causing her other diagnoses, but I am still not convinced. She has also been diagnosed with: 1. Developmental delay, gross motor; 2. Speech and language disorder; 3. Ligament laxity; 4. Hypotonia, mild; 5. Static encephalopathy; 6. Ehlers-Danlos syndrome, hypermobility (possibly). I would very much like to talk with you about your son. Please reply if you would like to as well.

Thank you,
Elizabeth
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#85 of 87 Old 05-20-2014, 11:18 AM
 
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Hello Logan's_Mommy,

My daughter, too, was diagnosed with 17p13.2p13.1, in May 2013. I was researching her chromosomal anomaly and came across your post. Her lab work states that "a 128 kb gain at 17p contains part of one gene, TEKT2, which has testis-specific expression. This change is predicted to be benign." According to this report, it is not likely that her anomaly is causing her other diagnoses, but I am still not convinced. She has also been diagnosed with: 1. Developmental delay, gross motor; 2. Speech and language disorder; 3. Ligament laxity; 4. Hypotonia, mild; 5. Static encephalopathy; 6. Ehlers-Danlos syndrome, hypermobility (possibly). I would very much like to talk with you about your son. Please reply if you would like to as well.
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#86 of 87 Old 05-20-2014, 01:22 PM
 
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Hello Logan's_Mommy,

My daughter, too, was diagnosed with 17p13.2p13.1, in May 2013. I was researching her chromosomal anomaly and came across your post. Her lab work states that "a 128 kb gain at 17p contains part of one gene, TEKT2, which has testis-specific expression. This change is predicted to be benign." According to this report, it is not likely that her anomaly is causing her other diagnoses, but I am still not convinced. She has also been diagnosed with: 1. Developmental delay, gross motor; 2. Speech and language disorder; 3. Ligament laxity; 4. Hypotonia, mild; 5. Static encephalopathy; 6. Ehlers-Danlos syndrome, hypermobility (possibly). I would very much like to talk with you about your son. Please reply if you would like to as well.

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#87 of 87 Old 05-20-2014, 01:42 PM
 
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Hi!   Yes absolutely!  Can you send me an email:  steph1077@gmail.com  

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