Re: New Family!

April 24, 2006

OH OH!!! MY kinda family!!

Welcome... my son has Hirschsprung's AND mds.... and of course, the

Hirschsprung's was diagnosed first, and the MDS, not until he was 16 mos old.

Look forward to learning more about you and your son!!

~ANGEL~

Mom to 13, Mosaic Down Syndrome/Hirschsprung's Disease

Lance 17, Tyler 14, 11

Jaeda 9 and Shayne 3

April 25, 2006

The Hirschsprung's was an immediate problem...well..sorta... they actually

sent him home from the hospital when he was born, without having a BM! By the

middle of that night, I knew something was really wrong...still no BM, and

he was sooooooo distended and started spitting up the bile. So, his first

surgery was at 3 days old... kind of an " emergency " colostomy, and then he had

another at 4 months, and the pull thru at 6 months. (Of course, HD doesn't

end with the pull thru, as much as some doctors want to tell you it

does...hmph!)

So... time went on, I was pregnant again, and had a genetics appt about the

HD...didn't have a babysitter, so I just happened to take with me....

I could tell the geneticist was more interested in him than me...she stared

at him the entire time, and finally at the end, just outright asked if she

could do his blood work because, " he has some characteristics of a chromosome

anomaly " she said. Two weeks later, MDS!

Over that 16 mos, my husband and I agreed something else was wrong with

him... but we just could not get anyone to listen to us! The ped would say he

was just delayed on his milestones because of all the surgery... all those

doctors, all those nurses, and no one ever saw anything unusual in him

:::shrug::::

So, tell me about your son...how's the hirschsprung's....and what's leading

you towards MDS??

I'll send some pictures of to you personal email...but there is also a

page of group pictures on one of the sites, i can verify which....I remember

when was diagnosed, I didn't know what MDS was 'supposed' to look

like...

~ANGEL~

Mom to 13, Mosaic Down Syndrome/Hirschsprung's Disease

Lance 17, Tyler 14, 11

Jaeda 9 and Shayne 3

April 25, 2006

Hi! When and why did they do testing for the mds, 16 months? We've not been

diagnosed yet, for mds, but he has so many other characteristics except the

doesn't look like it! How old was your son when he had the surgery for the

Hirschsprung's? This is so new and wild for me.

S

LDSAngel77@... wrote:

OH OH!!! MY kinda family!!

Welcome... my son has Hirschsprung's AND mds.... and of course, the

Hirschsprung's was diagnosed first, and the MDS, not until he was 16 mos old.

Look forward to learning more about you and your son!!

~ANGEL~

Mom to 13, Mosaic Down Syndrome/Hirschsprung's Disease

Lance 17, Tyler 14, 11

Jaeda 9 and Shayne 3

April 25, 2006

Wow!!! What a beautiful family!!!! Your son does not look ds! You are so

brave to continue with your family, so blessed with all of your other children.

Also, pretty bizarre that the genetist was more interested in your son than

what you were there for.

Well, when Will was born in 2003, he also didn't have a BM and after many

horrible days and many fights with the nurses at the ped's office, I flew in the

door and told them to do something. We landed in the hopsital, they bungled

every thing, so we immeidately flew to Dallas to the Children's Medical

Hospital, my father-in-law is a doctor, so was able to get us in. We had a

diagnosis and stayed there for a week. When Will was 6 weeks old, we came home

and irrigated his bowels for two weeks, went back to Dallas for the pull-thru

and he has been fine ever since, on that front. We've not tried to potty train

yet, I'm sure that will be interesting!!!

He's always had feeding problems so we started speech therapy early. Also had

PT b/c he was very stiff and now we have OT b/c of a texture sensitivity and the

tremors and the stiffness. At 12 month checkup, the ped ( a new one, we fired

the first one :)referred us to a neurologist, thinking maybe he was autistic

(NOT) or cerebral palsy b/c he has tremors in his arms sometimes. The

neurologist ordered an MRI, found nothing, told us to get more physical, OT and

speech. The doctor did say, b/c of Will's history with HD and when the doc

noticed the palmer creases, he said we could do some genetic testing if we

wanted to. I still really didnt understand why and thought, well, I'm not sure

what they are looking for but we can't do anything about it, so why go there.

Now! That was a year ago, Will's speech has not progressed much, in fact, it

has regressed. I began researching speech disorders and stumbled on the MDS!

My speech therapist says, that he'll talk, don't worry, etc. I just though,

wow, that's wild. Never heard of MDS and never in my wildest dreams would have

thought about it. LIke your son, Will doesn't look like it and he seems very

smart b/c since he cannot talk very well, he signs and even makes up his own

signs. He can do anything you ask him, so his receptive speech is great. I

want to have him tested, just to know and find out what we are dealing with.

Thank you so much for writing me, as you can tell, I'm very new to this and

appreciate anything you can tell me.

Hope I didn't give you tmi! I'm working today, so I can't send a picture, but

I'll try and send one when I get home so you can see what I'm talking about.

LDSAngel77@... wrote:

The Hirschsprung's was an immediate problem...well..sorta... they actually

sent him home from the hospital when he was born, without having a BM! By the

middle of that night, I knew something was really wrong...still no BM, and

he was sooooooo distended and started spitting up the bile. So, his first

surgery was at 3 days old... kind of an " emergency " colostomy, and then he had

another at 4 months, and the pull thru at 6 months. (Of course, HD doesn't

end with the pull thru, as much as some doctors want to tell you it

does...hmph!)

So... time went on, I was pregnant again, and had a genetics appt about the

HD...didn't have a babysitter, so I just happened to take with me....

I could tell the geneticist was more interested in him than me...she stared

at him the entire time, and finally at the end, just outright asked if she

could do his blood work because, " he has some characteristics of a chromosome

anomaly " she said. Two weeks later, MDS!

Over that 16 mos, my husband and I agreed something else was wrong with

him... but we just could not get anyone to listen to us! The ped would say he

was just delayed on his milestones because of all the surgery... all those

doctors, all those nurses, and no one ever saw anything unusual in him

:::shrug::::

So, tell me about your son...how's the hirschsprung's....and what's leading

you towards MDS??

I'll send some pictures of to you personal email...but there is also a

page of group pictures on one of the sites, i can verify which....I remember

when was diagnosed, I didn't know what MDS was 'supposed' to look

like...

~ANGEL~

Mom to 13, Mosaic Down Syndrome/Hirschsprung's Disease

Lance 17, Tyler 14, 11

Jaeda 9 and Shayne 3

April 25, 2006

So, did Will have a colostomy? or were they able to bypass having one?? I

think when was a baby, colostomy was standard, but I understand there

are some new " one step " procedures now!

So, has someone explained to you then that there is some kind of genetic

link to HD and Down syndrome? Apparently, the first person ever diagnosed with

HD was a child with down syndrome. It seems like a small correlation to me,

2-3% if I remember properly, but apparently that's enough to make the medical

community take notice. I know of a couple other people, online, who's

children have HD and DS...but NO ONE else that has HD and MDS!

And yes, that single crease is another sign of Down syndrome...but I've

heard of people who have it, and don't have Down's...so, I guess that's not a

fool proof sign! does not have the single palmar crease.

So, has the blood work been done, and you're just waiting on the results

now?

~ANGEL~

Mom to 13, Mosaic Down Syndrome/Hirschsprung's Disease

Lance 17, Tyler 14, 11

Jaeda 9 and Shayne 3

April 26, 2006

Well ...I'm glad you found the group here... and look forward to

getting to know more about Will and your family.... Keep us posted on his

testing! And of course, if you have any questions...this is a great group of

people, with so many interesting and wonderful experiences!!

~ANGEL~

Mom to 13, Mosaic Down Syndrome/Hirschsprung's Disease

Lance 17, Tyler 14, 11

Jaeda 9 and Shayne 3

April 26, 2006

Hi! No, Will did not have to have a colostomy. They were able to do it in one

step, thankfully! Yes, I was aware of the link between HD and DS, but really

never thought much about it. Then the palmer crease thing was related to me,

still didn't think too much. Our neurologist asked us if we wanted to do some

genetic testing, (this was last summer) but we declined b/c we didn't think

there was a need. I didn't know about MDS then. Now, however, since his speech

is reallly delayed along with the other characteristics and he has gross motor

delays and sensory problems, I want to find out about the MDS. It is such a

" coincidence " that he has so many things, I'm just really curious. I never

thought much about anything being too wrong until I began writing things down

that we've been dealing with over the past 2 years and working with OT and ST

for. LIke you, everyone keeps and kept saying, " oh, he's just delayed b/c of

the surgery early in life. " And, that may be, but

I need to know for sure what is going on so we can be prepared and give him the

best care and opportunity. As we would any child!

The blood work has not been done. We are going to the ped in 3 weeks and I'm

going to insist that we begin genetic testing.

Ok, thank you so much for your interest and kindness.

,

Mother of Will 2 and Currie 11