First! (kind of intro)

[bdazzld]

New to this board! I was BDazzld on TB and chose to keep it here. I took a huge break from PB to deal with having a baby with special needs and was basically mobile only for anything for the last 3 1/2 months. He was diagnosed with Emanuel Syndrome while in the NICU on March 4th. 7 days after he was born.

I've never posted my birth story because I was shattered. I may as well post it as my introduction. I became a different person when my LO entered my life and I'm still discovering who I am.

We were scheduled for a C-Section on 02.25 due to my hip replacements and were all ready for our baby girl. Clothes washed, nursery done. Name painting hung that we bought at Disneyland. Totally prepared.

At 37 weeks I was diagnosed with low amniotic fluid yet no one would commit to IUGR. Everyone felt is fine for me to deliver at 39 and 2.

My spinal block was too high and I could not breathe or turn my head or lift my arms. All I could see was a blue wall in front of me and hear my doctors. I couldn't look to my DH for comfort or to see how he felt about what was happening. I at one point thought it'd be simpler to stop breathing than to fight the paralysis to lift my chest to bring in the oxygen from the mask.

While I was eagerly awaiting my husband to bring me my little girl I overheard the doctor's say, Please note infant presents with ambiguous genitalia, then the regular baby notes. Good color good APGAR I could hear the baby cry. Then I can hear my husband being confused while he follows the doctors around to the warmer clips the cord etc. They handed me my baby and could not tell me if I had a boy or a girl. But I was just so grateful the baby was alive and I could finally see my LO. Love at first sight but I knew something was wrong. My baby was beautiful, 20" and 6lbs 4oz.

They wouldn't tell us anything other than babies with AG often have conditions with blood sugar metabolic issues and they were afraid the baby might crash and would take them over to the NICU once we were out of recovery, also to make sure his anus was working correctly and some other structural things.

That night they told my husband the baby would need to stay longer but not why, the baby could poop and pee. Systems were working blood sugar was good.

Later on that day we found out the baby was having issues coordinating sucking swallowing and breathing. That they were low tone and they were concerned. They did an ultrasound and believed they found testes, found no sign of ovaries but wanted a test done to determine chromosomally what the sex was.

Turned out they also wanted to run a chromosomal abnormality test. They didn't tell us this. We had no idea they suspected a potential trisomy or damaged chromosome.

Two days before I found out LD had ES I found out he was chromosomally a boy, and I could finally name my baby.

He presented with ambiguous genitalia and a pit by his ear with a recessed chin and mild thickening on his neck and low tone in his neck and arms. I had a baby boy with a translocation of 11 and 22. Totally worlds away from what they thought they knew from my 9 ultrasounds. I was high risk due to a blood clot years ago. My pregnancy was monitored so closely yet no one knew.

My world became learning how to feed my baby so that he wouldn't aspirate. I spent about 16 hours a day at the NICU, pumping at home and at the hospital so I could feed my baby my milk. He was too weak and had a severe tongue tie which wouldn't allow him to latch. My dreams of breastfeeding died.

I then had to spend a 12 hour shift proving I could take care of my son before they'd let me bring him home.

I'm still coming to grips with it all and each day that brings new tears and new fears but it also brings great pride as my son makes tremendous strides.

We've had two hernia repairs, his tongue and lip ties repaired (he can stick his tongue out and smile!) he wears glasses to correct his mono vision and also wears bilateral hearing aids to help give him some access to sound. He is profoundly deaf in his left and severe/profound in his right ear.

We have a cadre of early start therapists and doctor's working with him and average 5 appointments a week.

He laughs and smiles, has favorite toys and babbles at his Panda. He's learning to lift his head and started teething at 4 months. He's my miracle baby and while I couldn't love him more every day it feels like my heart finds a new way to break for him. It's less now but the first few months where I was drowning in referrals and begging doctor's to do their jobs, I wasn't sure I'd make it.

But we find the strength for our kids don't we?

Thank you for reading this. I look forward to interacting with you all.

Edited to add a link to some ES info: www.emanuelsyndrome.org/ and a study I found to be very helpful regarding health problems and what is "Average" for these kids. www.ncbi.nlm.nih.gov/pmc/articles/PMC2733334/

[mrsbuttinski]

bdazzld,

HI and welcome.

[bdazzld]

Thank you

Picture of my LO to go along with the intro.

[BostonKisses]

Holy adorableness, bdazzld!

[funchicken]

He's a cutie, bdazzld! Welcome to the board!

[spooko]

That is a seriously cute kid. Welcome!

[boymom4life]

Hi ladies! New to the board I haven't used the bump in a couple years so I don't even remember my screen name, I had my old one updated a while back because it was my actual first and last name and so I had it changed to Mom52011 or something like that. I have a 4 year old with SPD and a typical 21 month old. Looking forward to chatting with you all!

[brie]

New here, but a reg on GBCN/TN.

I have two boys. My oldest, C, is 3 years old and typically developing. My youngest, P, is almost 10 months old. He had a major left parietal stroke in utero. We discovered it randomly when at the children's hospital for croup and they thought his head shape was funny so they did a CT. He was diagnosed with multi-suture craniosynostosis (premature fusion of the skull) and the stroke.

As a result, he has a spastic right hemiplegic cerebral palsy diagnosis. He is doing really well and is super adorable but lacks almost any functional use of his right hand and arm.

[BostonKisses]

Welcome brie!

[numbbears]

Welcome brie

[mrsbuttinski]

Welcome over brie,

[brie]

Thanks everyone. Just reading through the thread, thought I'd add a little more info. We also recently got the results of P's genetic testing--he had a microarray and craniofacial panel done. He has extra material on Chromosome 10 and a variation in his MEGF8 gene, although they are of unknown significance at this point.

He sees two different PTs and OTs, a wonderful physiatrist who also has cerebral palsy himself (cool, right?), and ophthalmology (he may have some peripheral vision loss, though it's hard to tell this early). We were just discharged from regular follow-ups with neurosurgery and plastic surgery and will just see them as needed. He also has a super amazing orthotist, who we see a lot of as he has a cranial helmet, a Benik splint, and just got fitted for a DAFO. He takes Klonopin for his high muscle tone and it's been really helpful thus far.

Right now we are hoping to move him to a developmental preschool when he turns one in January, as H and I work full time and I'd feel better knowing he's in a place that is comfortable integrating therapy into everyday activities.

Here's a picture. I'm biased but he's pretty dang adorable.

[numbbears]

He's adorable!

[akafred]

He's precious!

[Deleted]

Hi. I just found this place. I didn't really post regularly on the SN board on TB. I did get told by auntie to get my oldest tested waaaay back in 2011 though.

I have a gifted 7 year old who is quirky as hell, has poor play skills, special interests, difficulty understanding social situations, and an emotional level just above that of his 5 year old sister's. He has now been evaluated twice and never met the cutoff for ASD. I am scared about how things will progress as he ages and feel ill that I hope he slips far enough behind to grab a diagnosis. He also has what feels like a visual processing problem of some kind, but it isn't exactly definable. He cannot work with pictures or puzzles at all, but is an excellent reader and can follow along with presented information. He has yearly monitoring check-ins with a developmental pedi at our regular pediatric office.

I have a 5 year old with a speech and language delay and a likely auditory processing disorder, but have been told she is too young for an official diagnosis. She is highly impulsive and manipulative, and her ability to read people and use that knowledge to her advantage fascinates me after watching her brother. We didn't catch her language delay until almost 3 because she was so skilled with jargon, gestures, and facial expressions that we thought she was just really mispronouncing words, not that she wasn't using them.

[mrsbuttinski]

Dec 17, 2015 22:38:36 GMT -5 @mightymaude said:

Hi. I just found this place. I didn't really post regularly on the SN board on TB. I did get told by auntie to get my oldest tested waaaay back in 2011 though.

Glad you found us. I changed my screen name here; at TB I was "auntie".

I have a gifted 7 year old who is quirky as hell, has poor play skills, special interests, difficulty understanding social situations, and an emotional level just above that of his 5 year old sister's. He has now been evaluated twice and never met the cutoff for ASD.

Hmm. I know a couple kids who on paper feel very Aspergerish, but don't quite get that label under DSM-IV or ASD under DSM-5. It happens. If he saw qualified clinicians and "passed" ADOS, he may be more of an autistic cousin. One would expect a bigger gap between chronological age and actual social communication and emotional maturity in ASD. For an Aspergers presentation, it would be about 1/3 even with a high IQ. Have they looked at Social Communication Disorder?

www.autismspeaks.org/what-autism/diagnosis/dsm-5-diagnostic-criteria

One of my dear young scout friends, Jack,  is one of those kids who seems ASD-ish but doesn't meet the criteria. Very quirky kid. Back when we did summer camp together we had a somewhat aggressive scout who camped with a TSS person who was getting a masters in ASD education. He knew we had another boy in the troop who had the same dx; the other mom thought it unfair because this other kid (my DS, btw) wasn't required to have a 1:1 as a condition of attending camp. For 2 years, the TSS guy assumed Jack was the one with Aspergers; DS flew below his radar. 

Jack is quirky and different, but he's more "with it" as litebright phrases it. He's been tested a number of times, but never met the criteria. His younger brother is on spectrum, so his parents are hooked up withdiscipline and intervention strategies. These days, he's working on a second masters ahead of starting a PhD program, Theoretical Physics after having completed the masters level Math Tripos at Cambridge last spring while his peers were wrapping up their BAs. He's been through a laundry list of dxs through the years- I think he's currently considered to have ADHD and GAD. 

I am scared about how things will progress as he ages and feel ill that I hope he slips far enough behind to grab a diagnosis. He also has what feels like a visual processing problem of some kind, but it isn't exactly definable. He cannot work with pictures or puzzles at all, but is an excellent reader and can follow along with presented information. He has yearly monitoring check-ins with a developmental pedi at our regular pediatric office.


You see a dev pedi at your regular PCP's office? This is a new concept to me. Has a psychologist ever done an in-school observation as part of an evaluation? What about BASC with student reporting? Vineland? TOPL-2 is a speech and language tool that can tease out ASD-related communication glitches. Does he get any supports in school or privately? Even without a dx, he would benefit from social thinking work and perhaps EF supports. 


Do you think NLD might be what you're seeing? This isn't really considered a disability but more of a learning style. It overlaps a lot with the Aspergers presentation of ASD. I bright kids, especially younger ones, it can be very subtle. I have a friend whose son is on spectrum and does have the NLD thing going on; he's super bright (perfect SAT smart) so the learning stuff is less of a thing for him but he has a lot of spatial glitches like a remarkably awful sence of direction. 

I have a 5 year old with a speech and language delay and a likely auditory processing disorder, but have been told she is too young for an official diagnosis. She is highly impulsive and manipulative, and her ability to read people and use that knowledge to her advantage fascinates me after watching her brother. We didn't catch her language delay until almost 3 because she was so skilled with jargon, gestures, and facial expressions that we thought she was just really mispronouncing words, not that she wasn't using them.


CAPD/APD is not something even considered at this age. For all children, auditory processing is an emerging skills well into puberty. This isn't something about which teachers get excited in many places, and even then, not until about age 8. There's a lot you can do to support these emerging skills at home. One of the most important things you can do is severely limit screen time of any kind because using her visual processing to compensate won't hone her auditory skills. Reading aloud and even books-on-tape are the go-tos here. If it persists into school, she might benefit from an FM sound field. TBH, all elementary kids benefit when these are used in the classroom. 

[Deleted]

OMG, I just typed huge response and it was eaten by the ether.

Suffice to say, he doesn't quite fit anywhere. NLD might be the best fit, except he is remarkably physically adept and currently receiving gifted services in math (as well as language, but that one fits the description I looked up). When he was screened for identification last year, his non-verbal cognitive skills were 17 points lower than his verbal, but still considered average to above average. I asked then if the gap was something to be concerned about and was told that it wasn't. I am uncertain about this. They will not do a full battery of identification tests until next year, when they put kids into the "official" gifted program versus what they cobbled together for the K-2 kids (understandably, b/c we live in a pushy place). I suspect he will lose the mathematics identification. They only gave it to him because part of his evaluation involved a separate math skills test, and he did well on that. However, I taught him a host of tricks only a few weeks earlier because we got bored during Spring Break (this was before I discovered that his teacher had reccomended him for evaluation). I suspect he appeared more skilled than he actually is.

The girl child is as visual and perceptive as her brother is auditory and kinesthetic. She has been beating him at matching/memory games since she was 2.5. We went to a math/science night at the elementary school (she is still in pre-K due to school cutoff) and she was able to complete five 4-piece 3D puzzles in less than five minutes. Her brother finished none. He was able to explain to a fifth grade teacher how a circuit works, and she can't answer questions. I feel like together they make one brain.

ETA: Specific examples of his social behavior at his current age:

He has spent a year pretending to be a cat and meowing at peers. He thinks he is adorable. The girls do too. The boys did, but are tired of it. He doesn't recognize it when they call him cat boy in a pejorative tone. We have been trying, with limited success, to get him to chill with the cat thing. It definitely appears most often when he is feeling uncomfortable. If he doesn't know what to do, he'll bat his eyes, mew pitifully, and rub his head on your arm. He is actually highly social, which was a shock to discover, because as a 3-4 he and I did extensive social story/role playing work to get him to even allow a peer within 5 ft in any direction, let alone speak to one. He recieves no services other than what I have taught myself to teach him. I got tired. He hit K, suddenly was making a bunch of friends instead of screaming/growling when kids talked to him, was able to transition well, and I relaxed. It's catching up to him.

[scoutkate]

Hello, I recognize some SNs from TB! I was scoutkate there as well and posted regularly but haven't been as active on TCF.

My daughter Betsy is five and we're still working on identifying all of her issues. She's being treated for severe anxiety and has also shown signs of depression including suicidal thoughts at age 4. She has tested as highly gifted and has a lot of the standard difficulties that go along with that like extreme perfectionism, obsessive-compulsive behaviors and thought patterns, etc. She has very low self-esteem and reacts very, very badly to any sort of negative feedback. She also has SPD, particularly in regards to tactile and auditory stimulants. Kindergarten has been a disaster--we've withdrawn her from one school and been asked to leave another, all since September.

On top of all of that, she was just diagnosed with celiac disease on Friday so we're in the midst of a huge lifestyle change with the whole family going GF immediately. The diagnosis explains a lot from a physical standpoint--she has always been very small--and I'm holding out a small amount of hope that the switch to GF may have a positive effect on the psychological/behavioral issues as well.

[mrsbuttinski]

Dec 20, 2015 13:28:54 GMT -5 scoutkate said:

Hello, I recognize some SNs from TB! I was scoutkate there as well and posted regularly but haven't been as active on TCF.

I'm glad you found us. I changed names when I came over after the second migration. I used to be *auntie*.

My daughter Betsy is five and we're still working on identifying all of her issues. She's being treated for severe anxiety and has also shown signs of depression including suicidal thoughts at age 4. She has tested as highly gifted and has a lot of the standard difficulties that go along with that like extreme perfectionism, obsessive-compulsive behaviors and thought patterns, etc. She has very low self-esteem and reacts very, very badly to any sort of negative feedback. She also has SPD, particularly in regards to tactile and auditory stimulants. Kindergarten has been a disaster--we've withdrawn her from one school and been asked to leave another, all since September.

Kudos to you for sticking with this to get all the answers. It's difficult to deal with that level of depression as a parent; it is so tempting to stay under the covers and pretend it's not happening. 

Has she been seen by a dev pedi or just psychologist/psychiatrist? Has she been evaluated by your local school district (if you're in the U.S.?) A lot of your thumbnail description sounds very kindie version of Aspergers- anxiety/depression, SPD, they often are initially dxd with OCD because of their rigidity of thought and behavior. The issue with any criticism is tough for them because of their binary thinking. And being asked to leave schools typically goes with the territory as well. 

How did they identify her as "highly gifted"? Most clinicians won't go out on that limb until closer to 7 when a child can sit the WISC which is a bit more robust than WPPSI. This is also common among an Asperger type ASD- depth of knowledge, strong verbal skills (Typically a higher VIQ than PIQ- often by several std devs) 

Has anyone run ADOS on her yet? How about GADS or ADI? 

On top of all of that, she was just diagnosed with celiac disease on Friday so we're in the midst of a huge lifestyle change with the whole family going GF immediately. The diagnosis explains a lot from a physical standpoint--she has always been very small--and I'm holding out a small amount of hope that the switch to GF may have a positive effect on the psychological/behavioral issues as well.

GF is getting to be a whole lot easier these days. Dining out can be a challenge, but the diet at home is more doable than ever unless you have a very rigid eater who lives on chicken nuggets and mac'n'cheese and who is picky about which brands are acceptable.

My cousin's son has celiac; it drove her to start her own commercial GF bakery. Now that's she's used to it, it's not that big a deal. Her son's physical health is better; he had a sound growth spurt about 6 months after switching his diet but he was never a challenging kid behaviorally. I hope you have a positive result with the 

[numbbears]

Welcome scoutkate and @mightymaude

[funchicken]

Welcome to the board @mightymaude and scoutkate!

Maude, my oldest is one of those quirky but still flying under the radar kids. DD1 is 7, and she has an ADHD and SPD diagnosis. She also has significant anxiety, but she doesn't have a diagnosis. I feel like NLD fits DD1 pretty well, but our Dev Pedi kind of brushed it off when I brought it up. I have 2 younger DDs who seem to be NT, and I see such a difference in flexibility and intensity level between the younger two and DD1. She doesn't receive any services either, so DH and I work with her a lot at home.

[squeakyduck]

Hi there, I thought I'd go ahead and take the plunge and intro here, since I've been lurking a bit.
My son had a prenatal stroke that affected his right brain. Right now, he's only two months old, so there's so much uncertainty as to what kind of needs we'll be dealing with in the future. Right now, he has some weakness on his left side, but they can't really tell us what to expect. It's been very frustrating. I'm a major planner, so I'm trying to learn what I can to be prepared for the future. Thanks!

[mrsbuttinski]

Hi squeakyduck,

Welcome to the board.

[numbbears]

Welcome squeakyduck.

[funchicken]

Welcome, squeakyduck!

[brie]

Jan 15, 2016 10:33:07 GMT -5 squeakyduck said:

Hi there, I thought I'd go ahead and take the plunge and intro here, since I've been lurking a bit.
My son had a prenatal stroke that affected his right brain. Right now, he's only two months old, so there's so much uncertainty as to what kind of needs we'll be dealing with in the future. Right now, he has some weakness on his left side, but they can't really tell us what to expect. It's been very frustrating. I'm a major planner, so I'm trying to learn what I can to be prepared for the future. Thanks!

Welcome. My son had a left parietal stroke in utero and is right hemiplegic as a result. He turns one on Friday and is totally adorable and doing awesome. If you have any questions please reach out! I also highly recommend CHASA.org as a resource, and the CHASA Facebook group as well.

[yummmy]

I've been lurking for a little bit, so I thought I would jump in and introduce myself.
My son Levi is 19 months old. At 8 days old he was diagnosed with congenital hypothyroidism. We have managed that fairly well and for the most part besides a slight delay in walking and never crawling he has done fine with it. On New Years Eve he was diagnosed with Upshaw-Schulman Syndrome, a very rare genetic blood disorder. Last week he was hospitalized for the first time and received his first 3 plasma infusions. He had a port placed on Friday to help with future infusions and blood draws. Right now we are in the careful monitor phase to try to get a cycle down for him. His hematologist is hoping we can do infusions every 3 weeks, but it might need to be more frequent then that, so we are doing twice weekly cbc draws. If his platelet count drops below 150 we are headed in for a plasma infusion. He had an MRI on Thursday, and thankfully he has had no mini-strokes to date. But we are carefully monitoring both his brain and his kidneys for loss of function.
Our world has totally changed and I am struggling to handle everything. I have no idea what the future holds and frankly that scares the shit out of me. The doctors are giving us all the information they can, but since there is only about 150 cases of USS world wide they just don't have a lot of information. The main research is being performed in Switzerland, so we are trying to get all the information we can from them.
Thanks! And I look forward to getting to know you guys.

[numbbears]

Welcome, yummmy. I've heard of TTP, but never Upshaw-Schulman Syndrome and now I'm reading all about it. Hugs. I hope the researchers in Switzerland are able to make some positive progress with their findings.

[mrsbuttinski]

Welcome yummmy,

I love your son's name.

[littlemissmagic]

Hello all. I was on TB many years ago but left for GBCN.

I have a 5 year old kindergarten boy who was dx'd at age 3 with ASD, he's high functioning and too smart for his own good. The school district had royally messed up and left of his dx from his IEP. He has both a medical dx and an education based dx (both at 3). He has speech and OT through the school and also private therapy. He has a TSS all day at school which she has been with him for a over a year and at least she's been his constant in all the transitions he's been through.

I also have a 3 year old little girl who gets speech and an Itinerant teacher. We are currently awaiting results from her latest evaluation. She doesn't want to be around her peers and won't speak if they are around (in contrast he's social now-he looked to her for cues to go up to people), she loves adults and seeks them out. She will play with her brother.

We also have a high energy dog (Brittany) who suffers from severe separation anxiety but he loves his little people. My H and I celebrate our 12th wedding anniversary next week. In March, my son turns 6 and two weeks later the dog celebrates his 5 year anniversary on my daughter's 4th birthday.