Arthrogryposis Attn: Juir and Penny

[Guest guest]

Re: RE:arthrogryposis

> 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

>

>