Post your childs diagnosis!!

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Hi guys, I was just thinging it would be super helpful if we all got familiar with each other and our children. If everyone would post their childs diagnosis maybe it will be easier to find each other!! There may eve be someone here with the same problems to chat with, never know.

Ok i'll start! My daughter is 22 months old and has a chromosome deletion. Her diagnosis is 1p-36.23terminal deletion.

[Goldiemom]

I like the idea of getting to know the people and their children here. It would be very nice to be able to talk to other mom's who have children like my ds.

Adam is almost 4 1/2 and in Nov he was dx'd with moderate/severe autism. He can speak but he is very very echolalic. Developementally he is verbally at the 24 month level, and generally at the 30 month level. He is the sweetest most loving little boy. He likes hugs and kisses, even if it is on HIS terms. He is some sensory issues when it comes to clothes {i.e. he doesn't like to wear them} and in order to have sheets on his bed he has to have very high thread count soft sheets. Otherwise it is bare mattress. He can be very aggressive {i.e. hitting, biting, throwing things} he throws fits in order to communicate distress and frustration, and pure and simple rebelion of course. Adam also has severe lazy eye that we are working to correct.

I guess that is enough info for people to be able to relate to. I look forward to sharing experiences with others who know.

[wendygrace]

Great idea!

Ds was born with an Omphalocele and has developed cerebral atrophy with communicating hydrocephalus, liver and kidney disease, astigmatism and strabismus, asthma/chronic lung disease, restrictive lung disease, pulmonary hypertension, regular hypertension and has gone from a diagnosis of overgrowth syndrome to failure to thrive. He also has oral aversion due to being ventilated for about 5 months and had an NG tube for over a year. He also was on Oxygen by nasal canula for about one year and still uses it during colds and when he encounters eggs (which he's allergic to). His allergies include egg, peanuts and soy.

[CaliMommie]

Colby is 7.5 months old. At 2 months old he was given a partial diagnosis of Severe Exocrine Pancreatic Insufficiency. His body does not roduce any of the enzymes necessary for fat digestion. So far the only issues we've had are very low weight gain (he is 14 lbs, 6 oz; was 9 lbs, 15 oz at birth) & he cannot breastfeed b/c he needs medium chain fats (BM has long-chain fats). We have yet to get a full diagnosis, b/c the doctors at Stanford are stumped.

to all of the mamas who post her. I've often felt (at the hospital or Ronald McDonald House and now here) that it's like we are all part of this secret club that no-one knows about & no-one really wants to be a member, but by the time you find out about it you are already a member & it's too late! Not that we don't love our kids or would change them, it's just a difficult place to be sometimes.

AmiBeth

[CaliMommie]

Forgot to add: Colby is still considered Severe Failure to Thrive as well.

[mommy2three]

Great idea- I've been searching for another family with what my son has but haven't been able to fine one (I ever contacted NORD- Nat.Org. of Rare diseases and they don't have any families with this disease)

Anyway, my 22 month old was just diagnosed with a rare X-linked genetic disease called Familial Hypophosphatamia. It's the genetic form of Vit. D resistant rickets. His kidneys are not capable of absolrbing phosphates, calcium, Vit. D, etc which causes failure to thrive, problems with bones and teeth, etc. We've caught it early enough where only his left leg is bowing but both knees are fairly bad. He walked later, presumebly, because it was painful to walk but walks like an adorable toddler now

We're still figuring out a lot so don't have a treatment yet or even know the severity. Other than that and severe food alergies (alergic to dairy, soy, egg, peanuts...) he's the sweetest little guy. He was huge in his first year (off the charts in weight and height) largely due to being exclusevely nursed for the first year but is now down to 10%- he is still nursed but eats regular food as well (only nurses to sleep and when hurt, or bored, etc).

Ok, enough from me for now Hugs to all of you great mamas and your kiddos!!!!!

[iris0110]

Alright Kearnan will be three on August fourth, and right now the only standing diagnosis is expresive speach delay. We have been seeing all kinds of Dr's, but no luck on any further diagnosis. He was perfectly normal until he had the MMR vaccine at 18 months With in 30 days he had quit speaking. He is still pretty normal in every other way. He is a very intense child and quite willful, but he gets that from me, infact temperament wise he is my double. He does tend to have alot of fits, which can get violent, but they all seem to stem from an inability to express his needs. I would get mad if I kept trying to tell some one something and they didn't understand me, infact I think that is why I keep fighting with Dr's. Right now we get services from ECI for speech therapy, behavioral therapy, and we added Ocupational therapy to get him ready for when he has to move into the schools speach therapy program in a few months. I am really leary of moving him into the school's program because as of now I am really uncomfortable with them. I am hoping to get a better diagnosis so I can see about other options. We just finished testing with a pediatric nuerologist. We had an EEG, MRI, ABR, and a full blood and urine panel. Physically he is completely normal and all of the tests proved that. The pediatric nuerologist now reffered us to a neuro psycologist for further testing. I don't even know what a neuro psycologist is. all of this is really at the point of driving me crazy. But that is a completely different post. So as I said as of right now he is really just diagnosed as expresive speach delayed. Though there has been suggestions that maybe his problem is auditory integration, so we are looking more into that.

[chrfath]

I'll go next...

Our little Veronica is 13 months old and has Down syndrome. She is developmentally around 6-9 months. She was born with a complete AV canal which required open heart surgery at 3 months old. She now has a cleft mitral valve which is causing reguritation and heart enlargement. She is going to need another open heart surgery.

Thankfully with a lot of hard work she had been breastfeeding well. She has stopped growing again due to her heart but is doing pretty well otherwise.

I know exactly what you mean about finding people. It can be really hard sometimes. I have some supportive friends but they really don't understand. I feel lucky sometimes, at least we know what we are dealing with.

Hugs to all you mamas and your families.

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Wonderful to meet you all!!

[khrisday]

I have an 8 yr old son with Asperger's- lots of OCD/tics/pragmatics issues/sensory issues/ODD/behavior issues, and a 5 yr old dd who is an ECMO survivor with (undiagnosed) SID and PTSD.

[Xmamato3]

Hi, I am new to Mothering and this forum! My daughter Abigail has a diagnosis of Apraxia of Speech--with minimal oral motor weakness. Apraxia is a neurological disorder is where a person knows what they want to say, but the brain is unable to communicate the message to the muscles of the mouth. Apraxia can be developmental or aquired. Aquired apraxia is what would happen to someone who had a stroke or traumatic brain trauma. When Apraxia is developmental there is no known cause--they aren't even sure if it happens in utero or post birth.

Approxiamtely 1% of all children have Apraxia--but Apraxia is hard to diagnosed and very often "hides" in umbrella disorders such as autism.--so that figure is by no means accurate.

Abigail is currently 5, she got diagnosed when she was 3 by one of the lead authorities on Apraxia, Nancy Kaufmann, in W. Bloomfield, MI(right outside of Detroit). We spent 5 weeks at her clinic for intensive speech therapy and it was so neat to meet other parents from all over the country(NY,CT,VA,FL, CA) who were dealing with Apraxia also!

We were blessed to have another speech therapist through the school district continue with the Kaufmann method of treatment. Finding a school district to do the one-on-one therapy can be very hard--and private therapy is so expensive(ie 150 per 1/2 hr) and getting insurance to pay can be a nightmare(as I am sure you can all relate!).

Abigial is doing very well--she just finished a year of OT due to upper body weakness(typical of apraxic children)--we have years of therapy ahead and no idea how well her speech will or will not progress. When your dealing with the brain anything is possible. I am glad that we got her diagnosed so young and that she has had these 2 years of therapy before entering kindergarten this fall.

So, that's our story! Nice to meet all of you!

[txmama]

Hi all! So glad to have found this board. I've been struggling lately to find other moms with special needs kids. I've got lots of friends with kids that are really sweet and supportive but they really don't know what it is like and have a hard time relating.

My son doesn't really have a diagnosis yet. He was born by emergency c-section at 34 weeks due to lack of movement. It is believed that something happened with his oxygen in utero. He spent 5 weeks in the NICU and had hypotonia and seizures. Now he is 9 months. The seizures are gone and he now has hyperextensive tone. He also has no oral skills so he has a nissen and g-tube. Developmentally he is at a 3-4 month level. Recently we have found that due to his poor oral motor skills he is unable to swallow his secretions and has been slowly asperating on them so now he is on oxygen.

I am looking forward to getting to know everyone better here!

[snuggly mama]

My youngest daughter is 3 yrs. old and is diagnosed with Senior-Loken Syndrome, a very rare genetic disorder. Because of the syndrome, she was born blind, needed a kidney transplant @ 16 months, and has multiple other medical issues. She's had a g-tube for a while, though she does eat very well. I always tell people that she looks like a train wreck on paper, but she's really a sweet, adorable, bright little girl. I'm glad to know there are other moms like me out there, though I wish none of us had to deal with these issues.

[CerridwenLorelei]

My son is now 7

Has PPDNOS ( autism spectrum) SID and asthma
I am beginning to suspect a very light case of OCD in his little brother

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Originally Posted by txmama

Hi all! So glad to have found this board. I've been struggling lately to find other moms with special needs kids. I've got lots of friends with kids that are really sweet and supportive but they really don't know what it is like and have a hard time relating.

My son doesn't really have a diagnosis yet. He was born by emergency c-section at 34 weeks due to lack of movement. It is believed that something happened with his oxygen in utero. He spent 5 weeks in the NICU and had hypotonia and seizures. Now he is 9 months. The seizures are gone and he now has hyperextensive tone. He also has no oral skills so he has a nissen and g-tube. Developmentally he is at a 3-4 month level. Recently we have found that due to his poor oral motor skills he is unable to swallow his secretions and has been slowly asperating on them so now he is on oxygen.

I am looking forward to getting to know everyone better here!

Hi, Just curious what sort of genetic testing you have had done? Your child sounds alot like mine and the deletion she has is not usually looked for an chromosome analysis. BUT it's now believed to be the most common of terminal deletions and as common as 1/5000. That's not all that uncommon really! I can't imagine how hard it is not to have a diagnosis. You deserve that and it's always helpful... Good LUck!

[thoesly]

Hi! I've got three with special needs. This is actually a good thing for our family. I know a few families with only one child with special needs, and the parents have to work exceptionally hard to make certain the typical kids don't get forgotten or overshadowed by the sibling's needs. In our house, everyone has special attention automatically.

My oldest is five. He has autism and the sensory issues, allergies/asthma, and feeding and sleep issues that often go with that.

My daughter is three. She has sensory issues, anxiety issues, dyspraxia, and auditory processing issues. Everything is called an "issue" at this stage simply because most of the tests for things like auditory processing disorder aren't considered valid until age six. Thank goodness we live in a school district that has common sense -- she receives services for these things now instead of having to wait another lifetime.

My youngest is one. He has motor delays, speech delays, and sensory issues. Again, that's what we've determined so far -- more will probably appear with time.

This was a good idea -- I do love this board.

Tara

[CarolynnMarilynn]

My son

My turn. My son, Kai, is 6 and has neurofibromatosis. nf.com is a good website for more information on nf. He has some gross motor and fine motor delays. He has many cafe au lait spots and inguinal freckling, many little fibromas (little tumours), two small plexiform fibromas (little tumours that can grow to large proportions), and an optic nerve glioma that is followed by MRIs annually.

He is one of my greatest joys. My other greatest joy is my dd Taryn who is 4.

Carolynn

[mommy2three]

TXMAMA-

I wanted to ask you if your son has ever been tested for Cerebral Palsey? (I don't have enough to go on by your post to actual suggest him having it, so don't panic ) I posted above about my 22 month old because we are currently dealing with his prognosis but I also have an amazing almost 5 year old boy who has mild Cerebral palsey. His beginning was very much like what you discribed- Jack was born (with his twin) by emergency section at 31 weeks due to lack of movement and Jack's heartrate flatlined. Because it took them a bit too long to get him out he was deprived of oxygen and I think this is why he has CP. Anyway, he had severe hypotonia for the first year, was fed by tube feedings for 8 months, etc. He couldn't hold his head up until a year or sit up either. However, now with extensive therapies (and luck) he can walk completely unaided and is very into sports He will always have special therapies and possibly be in special ed.

Forgive me if you already said this- but have you contacted birth to three programs? Almost every state has one

PS. Jack was also on a breathing and heart machine until 8 months old because he would also start to choke and aspirate on his saliva. He still drools a lot now but he doesn't choke on it anymore

[sparklemama]

My son is 22 months and does not have a formal diagnosis yet, however he just had the ADOS (Autism Diagnostic Observation Schedule) and they said that he is definitely showing signs of autism however they want to wait until he's around 3 to be sure.

His communication skills are at the 9 month level (expressive=8 mos., receptive=10 mos.), socialization skills at 12 months and motor skills at avg. 18 months (fine at 12 mos., gross at 24 mos.) Mental scale (Bayley) says he's at the 11 month level. He also has some sensory issues, problems with eating/chewing, likes rough play and will not touch soft, squishy objects (such as much of his food).

He's the most loving, happy, affectionate child and has virtually no problems with eye contact or physical contact so this confuses most of his evaluators. The more I read about Fragile X the more it sounds like Zack. We'll be getting genetic testing done soon.

He, too, saw a somewhat significant regression right after his MMR shot at 13 months.

Edited to add:

Wow, this was written a while ago! My son is 4 now and did receive an official diagnosis of autism. We never did to genetic testing and probably won't. He's doing great. Yet he still has some difficulties with speech. We are all thinking he has Apraxia in addition to autism, though one ST mentioned a "severe phonological disorder" vs. the apraxia which I don't find to fit him well. I also find myself wondering if he has Hyperlexia instead of autism (he fits that description to a 'T' but apparently it's not a diagnosis they like to give out very often). Anyway that's about it!

[Goldiemom]

Now that you mention it, when Adam had his MMR shot at around 24 months is when he showed the most significant regression. And yet the doctors say that there is no correlation between the MMR shot and autism? I think they just don't want the public to think that the MMR isn't safe. I mean the government wouldn't want to be faced with a big lawsuit or anything from us parents whose kids are autistic. {insert massive sarcasm}