Re: Will

[Guest guest]

Hi ,

did Will have any physical characteristics of MDS? What exactly prompted the

doctors to suspect this? The reason I ask is because if they did just a blood

test, there is still a chance that the cells are located in his skin.

Please keep in touch with us! I wish you and Will the best of luck!

Kristy

sbarnett79109 wrote:

Hi. I wrote in earlier to gain some information regarding MDS. You

all were so nice and helpful and I really appreciate all of the

stories and information that was shared with me. We just received the

karyotype of my son yesterday and, apparently, it is normal. We just

needed to know what was going on since he has Hirschsprung's Disease

and has a serious speech delay, now diagnosed as apraxia.

Again, thank you so much for all of your help. May God bless each

and every one of you.

Barnett

Mother to Will 2 (Hirschsprung's Disease/Apraxia), Currie 11

[Guest guest]

Will had, as I previously mentioned, Hirschsprung's Disease, palmer

creases on both hands, sensory problems (tactile), gross motor

delays/myeofacial problems and speech delay. He doesn't have any

facial similarities as I have seen in the other children. I guess

they justed wanted to rule MDS out. I don't think anyone expected him

to have MDS, but we wanted to make sure. I have heard about the skin

testing (through ya'll), I'll see about that. What problems do the

kids have if the cells are in the skin?

Thank you!

[Guest guest]

I can't say that there are any specific problems compared to the skin and blood

cells because there hasn't been enough conclusive research on it yet.

Kristy

sbarnett79109 wrote:

Will had, as I previously mentioned, Hirschsprung's Disease, palmer

creases on both hands, sensory problems (tactile), gross motor

delays/myeofacial problems and speech delay. He doesn't have any

facial similarities as I have seen in the other children. I guess

they justed wanted to rule MDS out. I don't think anyone expected him

to have MDS, but we wanted to make sure. I have heard about the skin

testing (through ya'll), I'll see about that. What problems do the

kids have if the cells are in the skin?

Thank you!

[Guest guest]

Even if Will does not have MDS, I think you might want to hang around

this chat group a bit because some of the children represented here DO

have hirshprung's. And besides, this is such a nice group!

My son's first chromosomal assay came back negative but we are

pressing in and sticking to this original prognosis because I have

researched and researched and no other syndrome more closely exmplains

my son's anomalies. I'm not saying that is the case with Will, I'm

just letting you know why I'm still part of this group even though we

don't have a positive Dx yet.

Blessings to you and yours!

Jennie

[Guest guest]

Jennie -

Please don't feel excluded because you don't have a dx - many of us have

felt that way in " typical " down syndrome groups because our children don't

have all the characteristics of DS. My daughter has very few outward signs

of DS - only one person ever knew by looking at her, and she is a special ed

teacher with a brother who had DS.

I am glad you think that this is a nice group - I do too. I am still

learning things on this group and not all about MDS but other issues that

confront us as parents.

Darlene - mom to (9) and (7)

>

> Even if Will does not have MDS, I think you might want to hang around

> this chat group a bit because some of the children represented here DO

> have hirshprung's. And besides, this is such a nice group!

>

> My son's first chromosomal assay came back negative but we are

> pressing in and sticking to this original prognosis because I have

> researched and researched and no other syndrome more closely exmplains

> my son's anomalies. I'm not saying that is the case with Will, I'm

> just letting you know why I'm still part of this group even though we

> don't have a positive Dx yet.

>

> Blessings to you and yours!

> Jennie

>

>

>

[Guest guest]

Thanks! I don't feel isolated, I just feel like I'm " using " by taking

advantage of helpful, caring and precious people when it might turn

out my son doesn't have MDS afterall.

But then I know that this group still wouldn't care! Everyone is just

so helpful!

Jennie

[Guest guest]

Jennie:

Thank you so much. I sortof feel guilty too, being here without a

diagnosis, but you are right, this is such a nice group! I'm going to

stay on and learn more. Everyone is soooo helpful.

Does your child have Hirschsprung's? Does anyone have any special

tips for potty training the HD baby? Will is 2 1/2 and I've not began

yet.

>

> Thanks! I don't feel isolated, I just feel like I'm " using " by

taking

> advantage of helpful, caring and precious people when it might turn

> out my son doesn't have MDS afterall.

>

> But then I know that this group still wouldn't care! Everyone is

just

> so helpful!

>

> Jennie

>

[Guest guest]

Jennie:

What kind of anomalies does your son have? I have done so much

research also, and I keep coming back to MDS for my son.

Thanks for your help!

>

> Even if Will does not have MDS, I think you might want to hang around

> this chat group a bit because some of the children represented here

DO

> have hirshprung's. And besides, this is such a nice group!

>

> My son's first chromosomal assay came back negative but we are

> pressing in and sticking to this original prognosis because I have

> researched and researched and no other syndrome more closely

exmplains

> my son's anomalies. I'm not saying that is the case with Will, I'm

> just letting you know why I'm still part of this group even though we

> don't have a positive Dx yet.

>

> Blessings to you and yours!

> Jennie

>

[Guest guest]

has had developmental delays from the start.

Severe gas pains and sucking disorder including reflux as an infant,

continuing until 6 mos.

Rolled over @ 4 mos.

Sit up on own @ 10 mos.

Crawled (without using his legs, just his arms) @ 14 mos.

Walked on his own @ 20 mos.

Speech delay, with babbling at 2 yrs and clear words/sentences at 3

but even now, at 5 his speech is so jumbled that I am often his

translator!

Toe-walking at the onset of walking

Delay in fine-motor skill development in his hands

Delay in potty training (we're still battling this at 5)

Tongue protrusion

Eyelid formation (I cannot remember the technical term for it, but

he's got the same typical eyelid problems most DS kids have)

Turned up nose and low ear placement

Short stature (he's been at 15-25% height on the growth chart since

birth)

Cognitive disability

Auditory and visual processing errors

Low IQ without modifications to learning (it borderlines mental

retardation and in auditory processing alone, it is in mental

retardation range but ALL scores soar into " above normal " when

modifications are made)

ADHD

Generalized sensory hypersensitivity

Seizure-like symptoms (although his first EEG came back normal)

Outbursts and tantrums

Autistic like behaviors including shrieking and difficulties in

social settings (although he doesn't really fit the bill for autism

or asperger's)

PHEW! That's quite a list, isn't it? And although he still doesn't

exactly fit the bill for MDS, his birthfather had MDS and no other

genetic syndrome seems to come close to explaining his anomalies.

Our team of doctors, without a positive Dx have at least agreed on

one thing, it's genetic and neurological, it looks like MDS, it will

definitely be a life-long disability that will affect his

functionality in society as an adult. All three have recommended

applying for disability.

What about Will? What kinds of things does he have trouble with?

Jennie

mom to Jessics (6), (5-MDS?), Maren (2)

[Guest guest]

Jennie:

Hi, thanks for responding. I think that it is astounding that 's

birthfather has MDS! It is so rare. You are blessed to have such a special

little guy.

Will has had developmental delays also.

1. Most of the doctors think that is because he was born with Hirschsprung's

Disease. He had surgery at 8 weeks at Children's Hospital in Dallas.

Apparently, because of this surgery/illness, he has/had:

2. Sensory problems, hypersensitivity. Grooming is always a problem!

3. Gagging on certain food (see above), therefore, doesn't eat much, very

picky. Always had feeding problems.

4. Gross motor problems. Tremors in arms, lack of balance (walked at 16

months). Still doesn't use both hands to do things and is rather unsteady with

himself. Had MRI to rule out Cerebral Palsy. Seemed normal at the time. That

was the first question the doctors had. Had OT twice a week.

5. Speech delays, now being diagnosed as apraxia. Babbles, but only a few

real words. He's 2 1/2. Certainly has his own language. Has ST twice a week.

6. For what this is worth, Will if fascinated with things that plug in!!!

Does anyone else have that problem!!!???

Will doesn't have any facial features of MDS, that I can see. The only

physical features are the Hirschsprung's and palmer creases on both hands. I

know that these features also occur in people without DS, but they add into the

mix.

Will does not show any signs of cognitive delay, yet. He's rather sharp but

just cannot speak! Isn't is such a mystery waiting to see what each day/month

brings!?

Ok, thank you for your response and information. I hope that you are able to

qualify for disability. I used to work for an attorney that did disability work

and I know that it takes a very long time, so you might go ahead and get started

on the process.

Wishing you all the best.

Mom to Will, 2 1/2, Currie 11

Jennie wrote:

has had developmental delays from the start.

Severe gas pains and sucking disorder including reflux as an infant,

continuing until 6 mos.

Rolled over @ 4 mos.

Sit up on own @ 10 mos.

Crawled (without using his legs, just his arms) @ 14 mos.

Walked on his own @ 20 mos.

Speech delay, with babbling at 2 yrs and clear words/sentences at 3

but even now, at 5 his speech is so jumbled that I am often his

translator!

Toe-walking at the onset of walking

Delay in fine-motor skill development in his hands

Delay in potty training (we're still battling this at 5)

Tongue protrusion

Eyelid formation (I cannot remember the technical term for it, but

he's got the same typical eyelid problems most DS kids have)

Turned up nose and low ear placement

Short stature (he's been at 15-25% height on the growth chart since

birth)

Cognitive disability

Auditory and visual processing errors

Low IQ without modifications to learning (it borderlines mental

retardation and in auditory processing alone, it is in mental

retardation range but ALL scores soar into " above normal " when

modifications are made)

ADHD

Generalized sensory hypersensitivity

Seizure-like symptoms (although his first EEG came back normal)

Outbursts and tantrums

Autistic like behaviors including shrieking and difficulties in

social settings (although he doesn't really fit the bill for autism

or asperger's)

PHEW! That's quite a list, isn't it? And although he still doesn't

exactly fit the bill for MDS, his birthfather had MDS and no other

genetic syndrome seems to come close to explaining his anomalies.

Our team of doctors, without a positive Dx have at least agreed on

one thing, it's genetic and neurological, it looks like MDS, it will

definitely be a life-long disability that will affect his

functionality in society as an adult. All three have recommended

applying for disability.

What about Will? What kinds of things does he have trouble with?

Jennie

mom to Jessics (6), (5-MDS?), Maren (2)