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#17160 - 05/08/08 11:11 PM Anyone ever hear of another baby with EHK AND Down Syndrome?
Martika Offline
Member

Registered: 04/15/05
Posts: 78
Loc: Southern California
If you saw my post in General discussions, it turns out that my little boy not only has Down Syndrome but also EHK.

Whew... We also find out saturday if he has a heart defect.

What I wonder is if there has ever been a documented case of a baby with EHK AND down syndrome???
_________________________
Mommy to TJ (EHK, T21, 8/14. VSD/ASD repair 11/4) Wife to WONDERFUL Husband and daddy Carlos, and Baby Mason Born 12/9/09

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#17161 - 05/09/08 12:30 AM Re: Anyone ever hear of another baby with EHK AND Down Syndrome?
Hearsay Offline


Member

Registered: 01/16/04
Posts: 1449
Loc: Richmond, VA, USA
If you email FIRST, they might know of one. I know of a handful of families facing multiple disorders (such as ichthyosis and cerebral palsy, but that isn't a genetic problem), but EHK is so rare - 1 in 300,000 and D/S, depending on mom's age, affects 1/40 to 1/1000ish kids. You're around 30, so it's more like 1/600 or so for you. Multiply 300,000 x 600 and you get 1 in 180,000,000, which means there might be one other in the country alive right now, and the chances that it is a young person are pretty slim since many D/S babies are now aborted when it is discovered.

I can check Medline for you and see if this combo has been reported, but I doubt I'll find anything.
_________________________
Jennifer
Ichthyosis-en-Confetti Type 2
Husband, Nathan - 10, Elliot - 7, Oliver - 4, all affected.
I also have an unaffected daughter, age 8.


email: jennifer at confettiskin dot com
facebook - find me on "ichthyosis mommy spot" or "friends of ichthyosis"

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#17162 - 05/09/08 10:55 PM Re: Anyone ever hear of another baby with EHK AND Down Syndrome?
Martika Offline
Member

Registered: 04/15/05
Posts: 78
Loc: Southern California
Thanks for your reply. Actually I'm 21. So my D/S chances were like 1/1000. I'd appreciate you checking medline.

Abortion was suggested, but I could NEVER do it... PPl are even asking my mom Karen if I'm gonna abort, it really bothers me!

Definitely, I plan on loving this baby as much as possible!
_________________________
Mommy to TJ (EHK, T21, 8/14. VSD/ASD repair 11/4) Wife to WONDERFUL Husband and daddy Carlos, and Baby Mason Born 12/9/09

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#17163 - 05/10/08 04:25 AM Re: Anyone ever hear of another baby with EHK AND Down Syndrome?
Hearsay Offline


Member

Registered: 01/16/04
Posts: 1449
Loc: Richmond, VA, USA
I checked, and no surprise, I found nothing. Even Google, the only times I found the two together were when they were listed as a series of random birth defects or medical web page indexes.
_________________________
Jennifer
Ichthyosis-en-Confetti Type 2
Husband, Nathan - 10, Elliot - 7, Oliver - 4, all affected.
I also have an unaffected daughter, age 8.


email: jennifer at confettiskin dot com
facebook - find me on "ichthyosis mommy spot" or "friends of ichthyosis"

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#17164 - 05/10/08 02:06 PM Re: Anyone ever hear of another baby with EHK AND Down Syndrome?
ericalopez Offline
Member

Registered: 12/22/07
Posts: 38
Loc: san antonio, tx
Try not to get down about what people think you should do with your baby. I am sure you have thought about all that is in store for your child and their future as an adult when he will have to care for himself if you are not around. It is a big decision for you and Im sure you are making the right one for yourself whatever your plans might be.Keep your head up.

------------------
erica lopez
lauren 11-12-07
collodion baby
_________________________
erica lopez
daughter with LI-Lauren 11-12-07

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#17165 - 05/13/08 10:27 PM Re: Anyone ever hear of another baby with EHK AND Down Syndrome?
Martika Offline
Member

Registered: 04/15/05
Posts: 78
Loc: Southern California
erica~ thanks! Yes, I'm already making plans.

We have a case manager for him regarding the D/S, as well as an OBGYN and Ped. Dermatologist for when he's born so he'll have the best care possible!

It's funny, the last week he kicks more and more each day! I'm loving it but daddy still can't feel it. [img]http://www.ichthyosis.com/ubb/frown.gif[/img]
_________________________
Mommy to TJ (EHK, T21, 8/14. VSD/ASD repair 11/4) Wife to WONDERFUL Husband and daddy Carlos, and Baby Mason Born 12/9/09

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#17166 - 05/14/08 04:48 PM Re: Anyone ever hear of another baby with EHK AND Down Syndrome?
Hearsay Offline


Member

Registered: 01/16/04
Posts: 1449
Loc: Richmond, VA, USA
It'll come soon. I'm 18 weeks now and at 17, I could feel it, but my husband couldn't. This week, if I lay on my stomach or raise my knees up and sort of squish the baby, he can feel it. By 20 weeks, you can put a remote or a plate on your stomach and watch the baby kick it off!

I'm glad that you've found a lot of support, since you are most likely alone with this particular combination of genetic problems. Fortunately, there is quite a bit of support in the D/S community, and of course you know what support is available among those of us with EHK or other types of ichthyosis.
_________________________
Jennifer
Ichthyosis-en-Confetti Type 2
Husband, Nathan - 10, Elliot - 7, Oliver - 4, all affected.
I also have an unaffected daughter, age 8.


email: jennifer at confettiskin dot com
facebook - find me on "ichthyosis mommy spot" or "friends of ichthyosis"

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#17167 - 06/15/08 02:33 AM Re: Anyone ever hear of another baby with EHK AND Down Syndrome?
pauline5 Offline
Member

Registered: 01/06/02
Posts: 913
Loc: Melbourne, Australia
Hi Cindie

sorry I haven't been on in ages...been very busy, and deliberately keeping off here, so I don't get distracted from study...

Listen when I did my disability degree, we studied the clinical aspects of disability, which included Down Syndrome...and I clearly remember that one of the symptoms/conditions that people who have D/S can have is ICHTHYOSIS.

I am sorry to hear that you got the double wammy...But you will be fine...with 3 generations of Ichthyosis under your belt, you will handle Downes Syndrome also...

From my experienfe of people who have Downes Syndrome...they are very loving caring people...I am not generalising here, of course everyone has unique personalities, and their moodfy, grumpy days...but I believe that the love ecpressedf is very unconditional...Get ready to have some very open arms, for the big hugs that you will/may receive...

Love Pauline...say hi to Mum...

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#17168 - 06/15/08 02:47 AM Re: Anyone ever hear of another baby with EHK AND Down Syndrome?
pauline5 Offline
Member

Registered: 01/06/02
Posts: 913
Loc: Melbourne, Australia
Cindie, I just went and got my book

Batshaw, Mark L. (1997) 4th Ed. Children with Disabilities. Paul H. Brookes Publishing. Baltimore, Maryland, USA.

"Severe skin conditions, mostly of the immune origin, are observed more frequently in individuals with Down syndrome...."

"By puberty , half or more of these individuals will experience atopic dermatitis (eczema), cheilitis (inflammation of the lips), ichthyosis (dry and scaly skin), onychomycosis (fungal infection of the nails), seborrheic dermatitis (dandruff), vitiligo (patches of depigmentation), and or xerosis (dryness of the eyes). Less commonly they have syringomas (sweat gland cysts) and alopecia areata (patchy hair loss) (Pueschel & Pueschel, 1992; Scherbehske, Benson, Rotchford, et al., 1990) in Batshaw (1997)"

Hope this is informative for you...although don't panic...about the list here...

Love Pauline
p.s. by the way there are much newer editions of this book now, but I don't have them...I did this clinical subject way back in 1999.

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#17169 - 06/15/08 02:54 AM Re: Anyone ever hear of another baby with EHK AND Down Syndrome?
Hearsay Offline


Member

Registered: 01/16/04
Posts: 1449
Loc: Richmond, VA, USA
Pauline, isn't IV the one associated with immune issues? I have to wonder if the skin issues associated with D/S are a side effect instead of the standard genetic inheritance that the majority of the members here are dealing with.

It sounds like a fascinating book. Thanks for sharing!

Jennifer
_________________________
Jennifer
Ichthyosis-en-Confetti Type 2
Husband, Nathan - 10, Elliot - 7, Oliver - 4, all affected.
I also have an unaffected daughter, age 8.


email: jennifer at confettiskin dot com
facebook - find me on "ichthyosis mommy spot" or "friends of ichthyosis"

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#17170 - 06/15/08 03:28 AM Re: Anyone ever hear of another baby with EHK AND Down Syndrome?
pauline5 Offline
Member

Registered: 01/06/02
Posts: 913
Loc: Melbourne, Australia
Oh dear, Jennifer...I am no expert on the intricacies about Ichthyosis...

It actually comes under a heading MEDICAL COMPLICATIONS in DOWN SYNDROME

and one of the subheadings are Skin conditions...

NOTE: the introduction to all the subheadings says "possible complications"...so doesn't mean that it will happen...

Hoever there is a table listing all the common complications, and skin conditions says it occurs in 50% of the people...

YEAH THIS BOOK IS GREAT...I love stuff on the human body...

PART ONE As Life Begins
1. Understanding Your Chromosomes
2. Heredity: A toss of the dice
3. Birth Defects: prenatal diagnosis, and fetal therapy
4. Growth before birth
5. Having a baby: birth process
6. The first weeks of life
7. Born too soon, Born too small

PART TWO The Developing Child
8. Substance abuse: preventable threat
9. HIV and AIDS from mother to child
10. Nutrition: good and bad
11. Vision: our window to the world
12. Hearing: sounds and silences
13. Language: a code for communicating
14. Brain and Nervous system
15. Muscles, bone and nerves: the body's framework

PART THREE Developmental Disabilities
16. Mental Retardation
17. Down Syndrome
18. Fragile X syndrome
19. PKU and other inborn errors of metabolism
20. Dual Diagnosis: Mental Retardation & Psychiatric Disorders
21. Autism: and other pervasive developmental disorders
22. ADHD
23. Learning disabilities
24. Cerebral Palsy
25. Neural Tube Defects (spina bifida)
26. Siezure Disorders
27. Traumatic Brain Injury

PART FOUR Intervention, families, and outcomes
28. Feeding
29. Dental Care - beyond brushing & flossing
30. Behaviour Management: promoting adaptive behaviour
31. Technological assistance: innovations for independence
32. Rehab Interventions: physical and Occupational therapy
33. Ethical Choices: Questions and Care...(all to do with genetics, and termination etc...)
34. Caring and Coping: The family of a child with D
35. Adulthood: What the future holds
36. Providing Health care in 21st Century

THERE YOU GO...
Love Pauline

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