Re: RE:arthrogryposis

[Guest guest]

Juri,

I looked up arthrogyrposis to see what it was. Arthrogyrposis does not

describe what I see in nela but she definitely has orthopedic issues that

are either related to her other congenital problems or neurological. She is due

to see a new Ortho later this month. She saw one in February that only noted

she had a 30% curvature of the spine and didn't even look at her badly over

pronated (completely flat turned in feet). The Ortho she will see this month

specializes in children who have neurological problems so I hope he will be able

to help.

In addition to the spine curvature and feet nela has hyper-extendability

of the fingers and legs. When she stiffens her hands her finger joints curve

back farther than normal. She also likes to sit with her legs folded but when

she does this her joints are extremely flexible (almost floppy), like she sit

right into a yoga position with her feet turned up on her knees without trying.

It seems similar to Ehlers Danos but she doesn't have the elastic skin. I'm

often reading about children with PMG who suffer from contractures, this would

be completely opposite in nela's case. Hoping we will learn more from the

Ortho this month and that he can help with her feet. She already is unsteady on

her feet, hoping they can do something to make walking less difficult for her.

Adding to the mystery, she is extremely short statured (4 foot 7 at age 14).

There is definitely something orthopedic going on in addition to the PMG, we

just haven't unraveled it all yet and figured out how to best help her cope with

it.

Penny

Juri Planckaert wrote:

Great website Janice.

I know our website is in dutch but I will tell the stories here too.

Didn’t you know at birth of Kym she had PMG? There happened no MRI or was it

too early?

Josse now had no seizures anymore since Sunday afternoon! We are very happy,

we hope the ACTH will succeed.

We keep you informed!

Does anyone knows here if your children too have arthrogyrposis? Our son has

bilateral arthrogryposis too and I wrote on this website the following

article:

Perisylvian polymicrogyria can vary significantly in severity. On MRI, it

can be seen on both sides of the brain (bilateral) or on just one side

(unilateral). Individuals with perisylvian syndrome may have learning

difficulties, cerebral palsy, and seizures, as with many developmental brain

problems. What is more distinctive about perisylvian polymicrogyria,

however, is that individuals often have problems using the muscles of the

face, throat, jaws and tongue Ð when this is mild it may lead to just a

speech impediment or a tendency to drool but if more severe it can lead to

difficulties with feeding as a baby. In addition, some individuals with

perisylvian polymicrogyria may be born with joint deformities

(arthrogryposis)

Thanks

Juri

[Guest guest]

My daughter, Abigail now 7 yrs old has Arthrogryposis associated with PMG.

Congenital Bilateral Persylvian syndrome, however all genetic tests related

to Arthrogryposis markers came back negative. She was born with dislocated

hips, clubbed feet, a contractured left wrist and rt knee, as well as

micrognathia with a severe recessed lower jaw.

She has had surgeries to correct the hips which worked. She has had 2

surgeries on both feet and a 3rd on the rt foot recently. She does not have

full functional use of her rt knee. She had mandibular advancement surgery

2 yrs ago and that has helped with her speech and feeding. She still has a

g-tube which she received medications and boluses thru. I know that

eventually she will have to have her jaw joints released as they are very

stiff but she would be around 10 before we do that. She does drink and eats

some by mouth, however chokes easily so we have to watch her closely. We

never know when her swallow is just gonna decide not to work right. She

does have speech apraxia but is cognitively very smart. She is in the 1st

grade and reads on a 3rd grade level. She wrings her hands and wrists allot

and we do not know why. She is able to walk using a Kaye Posture .

She has a self propelled wheelchair for school and long distances.

How is your child?

Deborah Salter

Leesburg, GA.

RE:arthrogryposis

Great website Janice.

I know our website is in dutch but I will tell the stories here too.

Didn't you know at birth of Kym she had PMG? There happened no MRI or was it

too early?

Josse now had no seizures anymore since Sunday afternoon! We are very happy,

we hope the ACTH will succeed.

We keep you informed!

Does anyone knows here if your children too have arthrogyrposis? Our son has

bilateral arthrogryposis too and I wrote on this website the following

article:

Perisylvian polymicrogyria can vary significantly in severity. On MRI, it

can be seen on both sides of the brain (bilateral) or on just one side

(unilateral). Individuals with perisylvian syndrome may have learning

difficulties, cerebral palsy, and seizures, as with many developmental brain

problems. What is more distinctive about perisylvian polymicrogyria,

however, is that individuals often have problems using the muscles of the

face, throat, jaws and tongue Ð when this is mild it may lead to just a

speech impediment or a tendency to drool but if more severe it can lead to

difficulties with feeding as a baby. In addition, some individuals with

perisylvian polymicrogyria may be born with joint deformities

(arthrogryposis)

Thanks

Juri

[Guest guest]

Juri and Penny,

I sent a reply earlier but I guess it got lost in space somewhere.

My 7 rd old daughter has arthrogryposis associated with BPMG. I was told

that she has Congenital Bilateral Persylvian Syndrome shortly after birth,

however after Dr. Dobyns looked at a recent MRI he says she has a unusual

sub-type of CBPS polymicrogyria and that there are not and have not been

enough identified children like her to do research studies on sub-types of

CBPS. Genetically all test came back normal, although the defect in the

brain shows up on MRI of the brain.

She was born with bilateral dislocated hips which were put back in

surgically. She also had bilateral clubbed feet and has had 2 correction

surgeries on both and then a 3rd on the rt foot recently. She had a

contractured rt knee at birth and today does not have full range of motion

in the knee. Her left wrist was also contractured, however we did splinting

for the first 7 months of life and that corrected the problem. Now she has

full functional use of the left wrist and hand. I have noticed that her

fingers have allot more flexibility in them than they should, but she can

write. She had a severe recessed lower jaw at birth and we fed her thru a

NG tube for 6 months then went to a g-tube which she still uses today for

boluses and medications. She had a mandibular advancement surgery on the

lower jaw 2 yrs ago and that helped with her eating by mouth, drooling, and

speech. She can drink and eat by mouth, but cannot consume enough to sustain

herself so we supplement thru her g-tube with Pedisure. She does have speech

apraxia but can talk and if you are around her you can tell what she is

saying. Sometimes she has clear normal sounding speech then other times

there are sounds missing or the sound doesn't come out of her mouth like it

should. Like " cars " sounds like " tars " . Early on we could tell that she

seemed to be congitive and aware so we started sign language with her at 7

months of age. She was signing over 500 words when we had the jaw done and

today she uses signing very little and talks up a storm. She has central

hypotonia and this has affected her respiratory system as well as her gross

motor areas. She started physical therapy at 9 months and by 14 months was

sitting on her own if you put her in place. Once she started sitting up,

her spine started to curve due to the low tone and finally I agreed to let

the orthopaedist insert spinal growth rods into her back at the spine. I

consulted with physicans in San , Texas about the possibility of

doing the VEPTR surgery instead of spinal growth rods and although they felt

she was a canadiate for the VEPTR, I choose to go the old way and use the

spinal growth rods instead. (Longer story if anyone wants that info let me

know). The growth rod surgery was April 2006 and corrected her scolosis from

a 86 degree upper thorasic curve down to a 20 degree curve. She has had her

first growth expanison where they extended the rods 1.5 cms to allow for the

growth of the spine and that was early October 2006. She has done well thru

all her surgeries.

When she was newborn and up until this spine surgery she suffered with sleep

apnea. Most of it was central, however a few were obstructive. Today, she

has outgrown this. I made the pulmonologist order a bi-pap for her at 16

months b/c up until that time the surgerons were scared to put her under for

surgery. They immediately put her on bi-pap in the recovery room and limited

sedation medications and that first surgery for hips and feet went well.

She continued to grow, thriving, and so we moved up to a ResMed STA II

system with pressure,which we have used in our home during naps and at night

until after the surgery in April 2006 post-op period was over. Now she is

not even requiring bi-pap at night or oxygen when she is asleep. She does

sometimes need oxygen when she gets sick with a cold, but even those times

have diminished tremendously. Since her left lung was compressed by the

scolosis curve, she does tend to get pneumonia easily and has had it 5

times, but with breathing treatments and antibodics she recovers. She walks

with a Kaye Posture walker and also has a self propelled wheelchair she uses

for long distances. She can do everything now for herself except transion

from the wheelchair or walker on and off of the potty, on and off a regular

chair, from or to the floor, and in and out of bed. So we still have to lift

her some. She is neither floppy or stiff but still does have hypotonia.

The last sleep study she had in June 2006, after her scolosis surgery was

normal. That was the first normal sleep study she has ever had.

Cognitively she is smart as a whip although we do notice that it takes her

alittle bit longer to process something and speak the answer. She is in 1st

grade this year in public school. She has home skilled nursing and her

nurse accompanies her to and from school. She only attends 3-4 hours a day.

She still receives private therapies in our home weekly...speech to include

feeding and oral motor skills, physical, and occupational therapies. She

learned to swim 2 years ago and loves the water.

She just had her 7th birthday and I look at her now and am amazed at how far

she has come and find it hard to believe that she has done as well and come

as far as she has. I pray to God that she continues to make progress and

thrive. I know that the future still holds surgeries for her. She too is

aware that she will have to endure surgery every 6 months on her back till

her spine stops growing at which time it will then be fused. She should be

between 12 and 14 yrs old by that time. I think she is very petite for her

age. She is 41 inches tall and weighs 37 pounds. She reads on a 3rd grade

level.

I do not know if any other parents on this list have a child similar to my

daughter...but I can tell all of you that you never give up hope...you

strive to make sure that your child gets the services he/she needs to

progress. It is not easy and is even harder to see your child suffer in

pain after surgeries, but the reward from having endured the surgery will

payoff. And foremost you educate yourself about your child's condition so

that you can continue to educate others. Anyone dealing with your child

personnally or professional should be educated on your child's condition b/c

one area of need always connects to another with our children.

I will hush for now. I do not post often, but I will say to new parents who

are just beginning their journey with their child...It is not a easy road to

walk, but your advocacy is all your child has...YOU are your child's best

avenue to resources so continue to educate yourself on the child's

condition, the resources in your community, state, and nationwide if need

be. I have flown my child to Texas and the other one with special needs to

Baltimore to get expert physicians opinions on the course of care to take

with my children.

Deborah Salter

Leesburg, GA

[Guest guest]

Wringing hands: has rett sydrome been considered?

http://www.nichd.nih.gov/health/topics/rett_syndrome.cfm

Dom

RE:arthrogryposis

Great website Janice.

I know our website is in dutch but I will tell the stories here too.

Didn't you know at birth of Kym she had PMG? There happened no MRI or was it

too early?

Josse now had no seizures anymore since Sunday afternoon! We are very happy,

we hope the ACTH will succeed.

We keep you informed!

Does anyone knows here if your children too have arthrogyrposis? Our son has

bilateral arthrogryposis too and I wrote on this website the following

article:

Perisylvian polymicrogyria can vary significantly in severity. On MRI, it

can be seen on both sides of the brain (bilateral) or on just one side

(unilateral). Individuals with perisylvian syndrome may have learning

difficulties, cerebral palsy, and seizures, as with many developmental brain

problems. What is more distinctive about perisylvian polymicrogyria,

however, is that individuals often have problems using the muscles of the

face, throat, jaws and tongue Ð when this is mild it may lead to just a

speech impediment or a tendency to drool but if more severe it can lead to

difficulties with feeding as a baby. In addition, some individuals with

perisylvian polymicrogyria may be born with joint deformities

(arthrogryposis)

Thanks

Juri

[Guest guest]

My daughter has had all the genetic test that a patient can receive and all the

genetic tests have come back negative or normal. This is not Rett's.

Deborah Salter

RE:arthrogryposis

Great website Janice.

I know our website is in dutch but I will tell the stories here too.

Didn't you know at birth of Kym she had PMG? There happened no MRI or was it

too early?

Josse now had no seizures anymore since Sunday afternoon! We are very happy,

we hope the ACTH will succeed.

We keep you informed!

Does anyone knows here if your children too have arthrogyrposis? Our son has

bilateral arthrogryposis too and I wrote on this website the following

article:

Perisylvian polymicrogyria can vary significantly in severity. On MRI, it

can be seen on both sides of the brain (bilateral) or on just one side

(unilateral). Individuals with perisylvian syndrome may have learning

difficulties, cerebral palsy, and seizures, as with many developmental brain

problems. What is more distinctive about perisylvian polymicrogyria,

however, is that individuals often have problems using the muscles of the

face, throat, jaws and tongue Ð when this is mild it may lead to just a

speech impediment or a tendency to drool but if more severe it can lead to

difficulties with feeding as a baby. In addition, some individuals with

perisylvian polymicrogyria may be born with joint deformities

(arthrogryposis)

Thanks

Juri