Re: Genetic

January 8, 2003

I may be off on these numbers a bit but the should be close. Ive read

suggestions that if one parent has psor then their child has a 20% chance of

developing it at some time in their life. If both parents have it then the

chance rises to 50% In my case there is nobody in my immediate family that

has it and no cousins on either side of the family. On my dad's side they say

that my great great grandmother always wore long sleeves, long skirt and a

bonnet even in the heat of the summertime. You can imagine what that would be

like to cook for a big family in the summer totally dressed. So she very well

might have had psor. So if that is the case it looks like it skipped 5 gener

ations. I have worried about the possibility of passing this on and I dont

have any kids but I cant say that I would pass up the chance to have kids if

I could find their mother. I wont be cloning myself though, that would be

100% chance of my clone having psor right? Orin

In a message dated 1/8/03 12:43:49 PM Central Standard Time,

mystery_tome@... writes:

> JILL.

>

> HI, i've read PA to be genetic.....my 'hubby' had juvenille PA since he was

> infant. his grandfather had PA and Psor. but as you say no medical

> attention......

>

> since i've been with my b/f soon to be hubby...his PA is getting worse and

> the psor is here as well...

>

> now.our son.....he was fine..nothing showing..i didnt expect our son to get

> this........when our son turned just over the 4 months, his nails were

> showing the PA symptoms the wrynkle pitted.

>

> each day are getting worse now...

>

> so , i am to assume this being geneitc not all your kids may get it.

>

> how are we to know.......although i am reading in here often of mothers

> having more children.

>

> good luck

>

> -----------------

> moderator note: I've said this before......I am the forth of eight

> siblings. My Dad might have had mild psoriasis and my mother has none. Mom

> seems to remember an older relative in a wheelchair from a young age due to

> arthritis.

> The oldest sib (female)gets occassional " dry patches " and immediately

> treats with steroids. The second oldest (male)has mild psoriasis and no

> art. The third (female)is clear but as the forth (female)I have rip roaring

> arthritis and mild psoriasis which Enbrel has not touched. The fifth sib

> (female)has moderate psoriasis and has the symptoms of arthritis but

> refuses to acknowledge it as Pa, she says she has thyroid issues. The sixth

> sib (male)has a touch of scalp psoriasis. Number seven (female)is totally

> clear and and number eight (male)lives in dread of ever getting " it " . The

> ages range from 47 to 33 so I don't know what will happen in the future.

> The reading material I have read seem to tell people that the majority of

> PAers get symptoms in the 30s-50s age range. How could anyone ever decide

> about children? Mom says I had skin redness/rashes as a baby so she kept my

> diet simple in case it was allergies. Who knows?

> PatB

>

January 8, 2003

- There is Psoriasis in my family also. I think it comes from my

mother's side because it keeps popping up in cousins here and there on that

side. None have yet shown signs of PA though. J

[ ] genetic

JILL.

HI, i've read PA to be genetic.....my 'hubby' had juvenille PA since he was

infant. his grandfather had PA and Psor. but as you say no medical

attention......

since i've been with my b/f soon to be hubby...his PA is getting worse and the

psor is here as well...

now.our son.....he was fine..nothing showing..i didnt expect our son to get

this........when our son turned just over the 4 months, his nails were showing

the PA symptoms the wrynkle pitted.

each day are getting worse now...

so , i am to assume this being geneitc not all your kids may get it.

how are we to know.......although i am reading in here often of mothers having

more children.

good luck

-----------------

moderator note: I've said this before......I am the forth of eight siblings.

My Dad might have had mild psoriasis and my mother has none. Mom seems to

remember an older relative in a wheelchair from a young age due to arthritis.

The oldest sib (female)gets occassional " dry patches " and immediately treats

with steroids. The second oldest (male)has mild psoriasis and no art. The third

(female)is clear but as the forth (female)I have rip roaring arthritis and mild

psoriasis which Enbrel has not touched. The fifth sib (female)has moderate

psoriasis and has the symptoms of arthritis but refuses to acknowledge it as Pa,

she says she has thyroid issues. The sixth sib (male)has a touch of scalp

psoriasis. Number seven (female)is totally clear and and number eight

(male)lives in dread of ever getting " it " . The ages range from 47 to 33 so I

don't know what will happen in the future.

The reading material I have read seem to tell people that the majority of

PAers get symptoms in the 30s-50s age range. How could anyone ever decide about

children? Mom says I had skin redness/rashes as a baby so she kept my diet

simple in case it was allergies. Who knows?

PatB

Please visit our Psoriatic Arthritis Group's informational web page at:

http://www.wpunj.edu/pa/ -- created and edited by list member

aka(raharris@...).

In August 2001 list member Jack aka(Cornishpro@...) began to

conduct extensive research which he publishes as the Psoriatic Arthritic

Research Newsletter monthly in our emails and digest format. Many thanks to

Jack. Back issues of the newsletter are stored on our PA webpage.

Also remember that the list archives comprise a tremendous amount of

information (Over two years of messages and answers).Feel free to browse them at

your convenience.

Let's hear from some of you lurkers out there! If you have a comment or

question chances are there is a person who has been around a while who can help

you out with an educated guess for an answer. If not we can at least steer you

in the right direction with a good website to go to for the answers.

Blessings and Peace,

Atwood-Stack, Founder

Alan , Web & List Editor

Jack , Newsletter Editor

Pat Bias, List Editor

Ron Dotson, List Editor

and many others who help moderate (thank you!)

January 8, 2003

I'm the lucky first person in my family to ever have PA that I know of. I have

checked as far back as grandparents, uncles, cousins, aunts, etc. on both sides

and nobody has had PA.

Weird how it started. I had just finished rebuilding a garage in my backyard (I

was 49 yrs old) and I woke up the next day with an ache in my lower back and

right knee. I thought I must have hurt myself working on the garage. We went

on vacation and it just got worse. Still thought I had injured myself on the

garage though. When it spread to both hips and shoulders and the right knee and

got so bad I could hardly walk I went to see my doctor. He couldn't figure out

what was wrong either but prescribed predisone (40 mg a day). I took them and

low and behold I was cured. No aches or pains. He kept lowering the dosage

until I was on 10 mg a day and still no pain. When I went off the predisone in a

couple of days I was in pain again. I had been reading up on arthritis and

thought it may be rheumatoid arthritis and suggested he send me to a

rheumatologist, which he did. All tests returned normal, but she made a

clinical diagnosis of Serum negative rheumatoid arthritis and began treatment.

Predisone and Plaquenil. It worked and in about a year I was off medications

and doing well. Just used Advil if I had some minor joint pain. About this

time I was backpacking in the Smokies and was checking my scalp for ticks one

evening and discovered a hard flaky patch on my scalp. It continued to grow in

size and then the joint pain came back and another patch started up on the other

side of my scalp. Back to predisone and plaquenil and thats where I still am.

I take 200 mg of plaquenil and 5 mg predisone daily and have been on this for 2

years. Don't see any side effects, but still suffer some joint pain especially

in the mornings and the day after a workout like mountain biking, surfing,

kayaking or backpacking. I am 55 now and I guess I will have to live with this

for the rest of my life.

>>> ljtexas@... 1/8/03 12:56:13 PM >>>

> - There is Psoriasis in my family also.

> I think it comes from my mother's side because

> it keeps popping up in cousins here and there

> on that side. None have yet shown signs

> of PA though. J

[Ed. Note: Not to make light of your situation Mike, but that penultimate

sentence of yours is something I feel like I should frame and hang on the wall -

LOL! Let's see now, ... I go to see my rheumatologist (or better yet an SSDI

hearing!) and say, " Doc, my problem is that at the age of 55, I have some joint

pain after I've spent the day mountain biking, surfing, kayaking and

backpacking. " (Yes, I know you said OR, but please pardon a bit of hyperbole for

effect ;-). Personally, my rheumy would be ecstatic if I told her that! In fact,

those things would probably put some of us in the morgue - LOL! Honestly, I'm

not trying to make fun of your predicament, it's just that your post vividly

illustrates the wide range of expectations and perspectives of the members of

this forum - I think that's one of the things that make it so great. Thank you

for your post. Ron]

January 9, 2003

Yep, I think you're pretty much right there, Orin. I don't know if

what I'm about to say is correct or not since genetics is a very

complicated subject and is far over my head, but I seem to recall

reading somewhere that if a gene is recessive rather than dominant (I

don't know which is the case with the gene(s) for psoriasis and/or

PA), then several generations can carry the gene without

ever " expressing " it (ie; without showing symptoms of the disease

they carry in their genes).

If at some point two spouses with the *same* recessive gene get

together however, then there is a non-zero risk (25% ?) of the gene

expressing itself in their offspring. If true, that would explain why

it sometimes seems to pop-up and appear out of nowhere. I ran across

what looks to be a simple explanation of the basics of genetic

inheritance with color pictures and everything at:

http://anthro.palomar.edu/mendel/mendel_1.htm

Could someone read it and explain it to me please? ;-)

-- Ron

>

> I may be off on these numbers a bit but the should be close.

> Ive read suggestions that if one parent has psor then their

> child has a 20% chance of developing it at some time in their

> life. If both parents have it then the chance rises to 50% In

> my case there is nobody in my immediate family that has it

> and no cousins on either side of the family. On my dad's side

> they say that my great great grandmother always wore long

> sleeves, long skirt and a bonnet even in the heat of the

> summertime. You can imagine what that would be like to cook

> for a big family in the summer totally dressed. So she very

> well might have had psor. So if that is the case it looks

> like it skipped 5 gener ations. I have worried about the

> possibility of passing this on and I dont have any kids but I

> cant say that I would pass up the chance to have kids if I

> could find their mother. I wont be cloning myself though, that

> would be 100% chance of my clone having psor right? Orin

>

January 9, 2003

Ok you are into computers right? Hopefully you understand a bit of Basic

and this will make sense. If not, dammit I have just further confused you.

ha ha

Well dominant and submissive genes work in sort of a boolean OR manner. In

this example I dont know if the blue/brown logic is correct but the example

is how it works.

An allele can be thought of as a single binary bit, each allele can be

either a 1 or a 0

2 alleles make up a gene which could be thought of as a 2 bit byte.

allele1 comes from mother, allele2 comes from father

If allele1 OR allele2 =1 Then GeneEyecolor= Browneyes ELSE GeneEyecolor=

Blueeyes

In that program statement Browneyes would be a dominant trait, Blueeyes

would be submissive trait.

The only way that program could make Gene =Blueeyes would be if Allele1=0 AND

Allele2=0 Any other combination will produce Gene= Browneyes.

So the statistical probablility, which is what this page about Mendel talks

about, of the offspring of a pairing will follow the patterns described on

that page. Now that doesnt necessarily mean that if Mother1 and Father1

have 16 kids that each possible combination will present itself. "

> According to the principle of segregation, for any particular trait, the

> pair of alleles of each parent separate and only one allele passes from

> each parent on to an offspring. Which allele in a parent's pair of alleles

> is inherited is a matter of chance

but if you had enough repititions of the Mother1 and Father1 pairing the

resultant offspring group should average out to reflect the charts on the

Mendel page.

I hope this helps to clarify the situation. Maybe I should be able to

explain it better I had a 104 average in biology my sophomore year when we

studied this. Orin

________________________________________________

Ed. Note: Well said Orin. Yes, I think I understand that. I've always thought of

it sort of like a transparent pane of glass and an opaque (black) pane of light

absorbing material. Each parent gets a gene (there are many different genes of

course), consisting of one transparent pane of glass and one opaque pane of

light absorbing material. The transparent pane is the recessive " allele " (?), and

the opaque pane is the dominant allele.

Each time a child is born, mother nature picks one " allele " (either a

transparent pane of glass or an opaque pane of light absorbing material) from

the mothers side, and one of the two from the fathers side. There are four

possible outcomes with equal probabilities of 25% each:

1. An opaque pane is chosen from the mothers side, and an opaque pane is chosen

from the fathers side. In this case when these two " alleles " are placed on top

of each other in front of a sunlit window, no light gets through. The opaque

panes have " dominated " .

2. An opaque pane is chosen from the mothers side, but a transparent glass pane

is chosen from the fathers side. In this case when these two " alleles " are

placed on top of each other in front of a sunlit window, no light gets through

because the mother's opaque pane has " dominated " the father's transparent glass

pane.

3. A transparent glass pane is chosen from the mothers side, but an opaque pane

is chosen from the fathers side. In this case when these two " alleles " are

placed on top of each other in front of a sunlit window, no light gets through

because the father's opaque pane has " dominated " the mother's transparent glass

pane.

4. A transparent glass pane is chosen from the mothers side, and a transparent

glass pane is also chosen from the fathers side. In this case when these two

" alleles " are placed on top of each other in front of a sunlit window, light

DOES gets through the window because there's nothing to block the light. The

transparent panes have finally " expressed " themselves - and then they begin to

itch! ;-)

Note that of all four possibilities, the situation in which light manages to get

through the window only occurs 1/4 of the time, even though the transparent

glass pane has the same 50% probability as the opaque pane of being picked from

the mother and from the fathers pairs of transparent and opaque panes (alleles).

The opaque allele " dominates " the transparency allele.

Each time a new child is born, everything is replaced in it's original position

and the wheel of chance is spun once again, so the next outcome is completely

independent of all prior outcomes.

Congratulations on the 104 in biology Orin (I assume 104 is good?). To be honest

though, I have no idea what a 104 means, because my own high school used letter

grades (A-F).

-- Ron

January 10, 2003

100 is an A+ normally the highest score you can achieve but that particular

teacher graded on a curve meaning that the highest score in the class on a

given test determined the breakdown of what percentage of correct/incorrect

answers correlated to what letter grade. In other words if the highest score

in the class on a test was 80% then 80% would be an A+ allowing the lowest

passing score to be 40% I think I dont remember exacly how it worked. We

had a test each week and all but 3 times I set the curve in that class and

got some serious threats from some other students who otherwise would have

passed the test with 55% but failed because I set the curve at 95-100 each

time. Not my fault blame the teacher for making the test questions so hard.

At any rate a few weeks into the school year when it looked as if a sizeable

percentage of the students in that class would fail he offered extra credit

points that would be added to their score on the exam. Well I correctly

answered many of the extra credit questions as well and ended up with greater

than 100%. A++? Orin

In a message dated 1/9/03 6:38:25 AM Central Standard Time, orinok@...

writes:

> Congratulations on the 104 in biology Orin (I assume 104 is good?). To be

> honest though, I have no idea what a 104 means, because my own high school

> used letter grades (A-F).

>

> -- Ron

>

[Ed. Note: Wow! Ron]

March 5, 2010

We had the genetic testing done at birth, that all babies have done. That showed

normal. after her issues started--my dd is 8yrs--we were told to see a genetics

doctor. when that testing was done--we found she has a deletion on Ch 2. The

doctor has since said he sees other kids with this type of deletion that have

Apraxia or speech issues.

March 5, 2010

What would be the doctors' recommendation for treatment for the chromosome

deletion syndrome once we went for the test and get the same result?

From:

[mailto: ] On Behalf Of Jennie

Sent: Friday, March 05, 2010 12:29 PM

Subject: [ ] Genetic

We had the micro array analysis done on our son, Logan, back in December

2009. Logan is 6 1/2 years old and has apraxia, hypotonia and sensory

integration disorder. His pediatrician considers him to be on the autism

spectrum however the school system does not agree with that. Logan's test

results came back two weeks ago. We found out he has Chromosome 16p11.2

Deletion Syndrome. There isn't a whole lot of information known about it

except that it is associated with autism and severe speech delay. The

testing was $1600.00 and our insurance company paid for it since we had

already met our deductible for the year. I would recommend genetic testing.

It can shed light on some questions that you may have. Logan's symptoms have

always been beyond the apraxia diagnosis. The deletion syndrome that he has

explains why we are still having potty training issues. It also explains the

apraxia, behavioral issues, hypotonia, developmental delay, etc.... Good

luck and I

hope you find some answers. Have a great weekend! -Jennie

March 6, 2010

" What would be the doctors' recommendation for treatment for the chromosome

deletion syndrome once we went for the test and get the same result? "

This is a very good question --What is done with the genetic info?--In most

cases --the treatment is not changed--it may further point to

metabolic/neurological differences since the genetic abnormalities often do

translate in metabolic processing differences and this is in fact the mechanism

by which some of the known neurological problems occur. For example the classic

DS individual will have a lot of metabolic processing problems ----food

intolerances, nutritional deficiencies, malabsorptions and endocrine/immune

problems--will have impaired detoxification paths among other things and this

will increase likely hood of other neurological problems--speech issues and

apraxia, even autism is more common in this population as are the neurological

disorders linked to toxicity that appear at the other end of the life

spectrum---Alzheimer's Parkinson etc---DS individuals develop these problems as

early as their thirties---because they are more

vulnerable--their genetic make-up makes them so---but proper

diet/supplementation/avoidance of toxins can actually help or even prevent a lot

of these conditions associated with DS--so they are not written in stone--the

genetic effects can be greatly influenced by the environment--- appropriate

diet/supplements/water/air/avoidance of toxicity--all can make a world of

difference for these individuals and unfortunately mainstream medicine just

diagnoses them and turns their back on them until their health deteriorates to

the point where they need the diabetes/high cholesterol/Alzheimers' drugs.

ZThey just do not understand metabolic processign problems --not their

causes---not their effective treatment.

Some genetic conditions can give more information that can be acted on---but I

find that very often mainstream medicine only delivers a genetic diagnose of

inversion or deletion--and is pretty clueless about what that really means or

how to treat it--or how to prevent the possible problems that may later appear

as a result of it..... Just the other day I spoke to a mom who was crying

because her son had just received the genetic test result of DS--and it was

mosaic which the doctor had said " was not that bad " --and they are Asian--so the

features were not as prominent--for the first 8 m they did not really know why

the baby was not thriving and not reaching his milestones---and when they did

the genetic test and learned of the DS diagnosis--all the doctor said was to

have his heart checked. There wasn't even a referral to speech and OT

services---NOTHING---,much less a program in place to help this child be the

best he can be---in spite of his genetic

weaknesses. Prevention of disease is just not something mainstream medicine

ever gets training in --nor do the doctors on their own try to accomplish. I

was indeed shocked though that even basic speech and OT services were unknown to

this pediatrician--and was happy to be able to refer the mom to Early

intervention services. So much for learnign what is wrong genetically

speaking....

So we've not considered this type of investigation for this reason--we feel the

biomedical approaches we've been following are giving us good results and

anything that is not directly actionable is not needed--but of course we do not

have any clear physical signs as thsi mom did---we have a child who is

ironically almost too healthy--physically speaking.

Like wise our decision to not have an MRI done. There was no continued

regression of any sort to warrant investigation under suspicion of progressing

lesions or tumors; it is Expensive and would not impact treatment--on top of

being potentially dangerous due to the anesthesia which can sometimes affect

kids who have detoxification problems quite severely---and there are different

types but doctors do not always let the parents choose these things nor are they

themselves up to date with the research that does show certain individuals with

certain genetic conditions more susceptible to damage from certain types of

anesthesia.

My doula once advised me to always think about what test results would really

mean in terms of action---if no actions can be taken to change or prevent a

problem----simply knowing that it is there--only adds pressure and

confusion--possible insurance complications in the future etc. This has served

us well during the pregnancy and ever since. So we've decided to skip both MRI

and genetic testing for these reasons--- At least at this point in time for our

situation.

All the best,

Elena

________________________________

From: LAE <bethausa424@...>

Sent: Fri, March 5, 2010 8:03:21 PM

Subject: RE: [ ] Genetic