Re: Family Troubles

[Guest guest]

---

oh, I am so sorry about it.

Hvae faith in everything and hopefully everything will be fine.

does she have any other problem regarding growth and stuff, I am

sorry I am asking all this but I know someone whose son has soft

bones and they dont know wat the prob is. So I thought may be I can

get some info. Do you know soome web sites or links about this, if

so please let me know

it will be very helpful

thanx

In Plagiocephaly , " Naomi Barringer "

<naomibarringer@...> wrote:

>

> Kaitlyn has a mild variation of Osteogenesis Imperfecta (brittle

bones) and

> Hypophosphatasia (soft bones). During a routine ultrasound they

found that

> her femurs were short and referred us to a Perinatal Office. At

31 weeks

> they found that her right femur was broken. When Kaitlyn was 6

weeks old

> they did a skin biopsy which reveled an alteration in her type I

collagen

> but were unable to find the gene which lead to the diagnosis of a

variation

> of Osteogenesis Imperfecta. They also did a skeletal survey which

reveled 8

> rib fractures, periosteal reaction of the anterior iliac wings

(hip

> fractures), and fractures in the arms. In Jan 2006 we went to

Omaha, NE to

> see a Dr. who specializes in Osteogenesis Imperfecta. He did a

metabolic

> bone blood workup that came back with low alkaline phosphatase

which is a

> marker for Hypophosphatasia. An ALPL analysis (genetic testing

for

> Hypophosphatasia) reveled two distict mutations which lead to the

diagnosis

> of an atypical form of Hypophosphatasia. Her geneticist noticed

some mild

> signs of Cerebral Palsy when we went in for her 12 month old

checkup and

> ordered an MRI. The MRI reveled Periventricular Leukomalacia (The

> Periventricular Leukomalacia (PVL) was likely due to a lack of

oxygen during

> the birthing process. And, the type of brain damage that PVL

causes contains

> the nerve fibers that carry messages from the brain to the body's

muscles

> which can lead to Cerebral Palsy), Chiari type I malformation

(herniation of

> the cerebellum through the large opening in the base of the skull

into the

> spinal canal), and right frontal Plagiocephaly. We were aware

that her head

> was becoming more an more misshapen but didn't have an actual name

for it

> until they did the MRI. We had mentioned using a helmet to our

Neurosurgeon

> when she was 12 months old but he said that we would just wait

until the

> shape of her head became grotesque and then we could correct it

surgically.

> We were blessed with a wonderful Dr. in Omaha and he has actually

done

> helmets in children with metabolic bone disease so we were able to

obtain a

> helmet through him. Since we were only seeing him every 6 months

we didn't

> have a chance to do her helmet until July. We've had a crazy

first year but

> Kaitlyn is my shinning star and I can't imagine life without her!!!

>

> Is your daughter wearing a helmet currently? What age did she

start to wear

> it? And, at what age was she diagnosed?

>

> Naomi

>

>

>

> >From: " sana_naqvi13 " <sana_naqvi13@...>

> >Reply-Plagiocephaly

> >Plagiocephaly

> >Subject: Re: Family Troubles

> >Date: Tue, 08 Aug 2006 02:54:20 -0000

> >

> >hi,

> >First of all , I am so sorry about what you are going through rite

> >now.I feel the same.

> >my daughter is 13months and we are in procedure of getting her

into

> >a band.

> >Every thing looks so dissappointing rite now. I just wanted to ask

> >wat is metabollic bone syndrome and how did your daughter got

> >diagnosed with it?

> >

> >-- In Plagiocephaly , " n_kbarringer "

> ><naomibarringer@> wrote:

> > >

> > > My daughter, Kaitlyn, has been wearing her helmet since July

> >20th.

> > > Today we went to my grandmas 80th birthday party and my brother

> >was

> > > annoyed that we would do such a thing to her. I took it off

for a

> > > little while because it was really hot and he even made the

> >comment

> > > that the helmet was making the shape of her head worse. The

thing

> > > is he hasn't seen her in a couple of months and her

Plagiocephaly

> >is

> > > progressive and has changed quite a bit in that amount of time.

> > > They saw her back in May and since then she has had flattening

in

> > > the back of her head that wasn't there before. She is now 16

> > > months old and also has a metabolic bone disease so I think her

> > > skull is shifting and flattening due to the softness of the

> >bone.

> > > She had a perfectly round head up until she was 9 months old

and

> >it

> > > has just gotten worse every month since. So, I felt we needed

to

> > > intervene before it became a surgical issue. My brother just

> > > doesn't understand why we have chosen to use a helmet. He said

> >that

> > > if it's not broke don't fix it. I guess he thinks it's just a

> > > cosmetic issue which in Kaitlyn's case I don't believe it is.

The

> > > bone has shifted so much that it is causing problems with her

tear

> > > duct and her ear canal, she also has some swallowing

> >difficulties.

> > > I believe that if we can correct the Plagiocephaly then

hopefully

> >it

> > > will correct some of those problems as well. We took her to

the

> >eye

> > > Dr. because she has recurrent eye infections in her right eye

and

> >he

> > > tried to do a procedure for a blocked tear duct but was unable

to

> >do

> > > it as he could not insert the probe because there was bone in

the

> > > way due to her skull shifting. I'm usually extremely

receptive

> >of

> > > other peoples opinions but this one just irked me, I can't

believe

> > > he would think that I would allow a treatment that would cause

her

> > > Plagiocephaly to become worse. It really was an ignorant

> >statement

> > > since he has not been to the Neurology appointments or read

the CT

> > > or MRI reports. I guess he just doesn't understand how

> >progressive

> > > her Plagio is. So far we haven't noticed any results but it

> > > certainly has not become worse! I really don't expect to see

> > > immediate results because of her age. Anyways, thanks for

> >listening

> > > I just needed to vent.

> > >

> > > Thanks,

> > > Naomi

> > >

> >

> >

> >

> >

> >

>

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