Obstructive sleep apnea in 6-month-old

[Guest guest]

This is a long post, but I'm a precise guy and a worried parent, and I

would like your help.

I have a lovely six-month-old achondroplastic girl (my wife Jodi and I

are both average-statured), who has recently been diagnosed with

obstructive sleep apnea, and I need some help clarifying next steps.

Here's the story so far:

Per the AAP article on supervising achon infants, we had a sleep study

done on , which revealed a low baseline oxygen saturation (low

90's) with episodes down into the mid 70's. Just had a pediatric ENT

surgeon (Dr.Henry Milczuk at Doernbecher's Children's Hospital in

Portland, Oregon) do an exploratory endoscopy while was under

general anesthesia, and he concluded that the main culprit was the

base of her tongue collapsing against the back of her throat, with her

epiglottis also contributing.

He said he would talk that night with " some people " to look at next

steps, and mentioned two possibilities: surgery to reduce the volume

of her tongue, and " distraction osteogenesis " to bring her lower jaw

forward. He mentioned that this second option would probably give her

the " Jay Leno look, " and may relapse, with the jaw going back to its

original position. We went home with an oxygen tank to deliver 0.5

liters/minute to while sleeping to keep her O2 levels up. We

have an appointment in a week and a half to discuss the further options.

I have since done hours of internet research and feel fairly versed on

the surgical options to address the tongue base. The thing I'm missing

is a sense of what the " standard of care " is for this issue in achons,

and specifically achon infants. Searching the archives of this

discussion board have given some results, but none on target. So let

me explain what I know, and then ask for people's experiences and advice.

My understanding is that the protocol developed by the Sleep Center at

Stanford Medical Center is the generally accepted protocol. " Phase I "

is a pair of surgeries to put the tongue under greater tension.

One-- " geniotubercle advancement " (or " inferior saggital mandibular

osteotomy with genioglossas advancement " )—pulls the attachment point

from the inside of the chin to the front of the chin, and the

second— " hyoid advancement " (or " hyoid myotomy and suspension " ) pulls

the attachment point in the neck further down (it involves the Adam's

apple).

If these procedures fail to resolve the issue, then " Phase II " has two

main options. If the patient's jaws are small, then surgery is

performed to move both the top and bottom jaws forward. This is

either done in one go by cutting the bone and creating a gap by

fastening plates ( " maxillomandibular advancement " ), or by " distraction

osteogenesis. " This second procedure is similar to the

" bone-lengthening " process where the bone is cut and an external

scaffold is attached which is used to periodically (daily!) pull the

bones slightly farther apart. My understanding is that distraction

osteogenesis not only is less likely to " revert " to the previous jaw

position, but for reasons I don't understand, is the preferred method

in younger patients.

In Phase II, if the patient's jaws are normal, then some method to

reduce the volume of the tongue is used. There seem to be a variety

of options for mechanically removing flesh from the back of the

tongue, but I came across what sounds really promising: radiofrequency

volumetric reduction (RFVR), a.k.a. " Somnoplasty. " This involves an

inserted electrode which " coagulates " the flesh under the tongue. The

resulting scar tissue contracts over time and is eventually absorbed

by the body, reducing the tongue volume without ever cutting it

surface. Sounds pretty cool, but I mostly came across references from

several years ago when it was cutting edge, and I couldn't get a sense

of its state of use today.

Interestingly, CPAP (continuous positive airway pressure) isn't

mentioned until Phase II, after the surgeries in Phase I have been

completed without resolving the issue.

So here are my questions:

#1) What have other people's experiences been with obstructive sleep

apnea due to the lower tongue in infants this age?

#2) Both surgeries mentioned at first blush by the ENT seem very

invasive, and according to the Stanford protocol should be withheld

until the simpler surgeries in Phase I have been completed and failed.

Is this a sign that I should look for someone else (I think he may be

" it " in my state of Oregon—he's the pediatric ENT surgeon at the only

children's hospital in Oregon, attached to the only teaching hospital

in Oregon)? Or is it just that he was probably shooting from the hip

and hadn't had a chance to do his research yet?

#3) If he doesn't mention it, I definitely want to talk to him about

the Stanford protocol. Should I email him links regarding the

Stanford protocol so that I know he's had time to digest it before our

meeting, or would that just be inflammatory for a professional?

#4) If he does seem aggressive in his treatment, how do I go about

this? How do I ask for a second opinion without alienating him?

#5) If I do go elsewhere for a second opinion, does anyone have any

recommendations? Randy Bradford made an aside reference to " this

quack " at the Stanford Center, which I had thought would be my

ace-in-the-hole for expertise on this, since they seem to have

pioneered a lot of the treatments.

#6) Any ideas why CPAP would not be further forward in the order of

things to try in the Stanford protocol, since it seems so much less

invasive than any of the surgeries? I came across references in this

list to " bubble masks " that made the CPAP tolerable for infants.

Further info?

I'm new to this discussion-group thing and am posting this message to

both the " dwarfism " group and the " parentsoflittlepeople2 " group. If

I am violating etiquette by doing so, or if there is a better place to

post, please tell me, and let me know how to avoid violating etiquette

in the future while still getting the greatest response I can.

Thanks in advance for your time and help!

Sincerely,

Greg Craven

Monmouth, Oregon

[Guest guest]

Dear Greg --

First, if you're worried about alienating your primary doctor, perhaps you

need a new primary doctor. No doctor should feel threatened by your trying

to do all you can for your child.

Now, then. I would say that you need to get a second opinion as soon as

possible. My first choice would be Dr. Cheryl Reid, whose contact

information can be found here:

http://www.lpaonline.org/lpa_mab.html

Yes, she's in New Jersey. You don't necessarily have to see her. When we

needed a second opinion for our daughter, Dr. Reid supplied it by looking

over her charts. That was sufficient for us, although perhaps your

daughter's case is complicated enough that it would not be sufficient for

you.

Dr. Milczuk might know exactly what he's doing, but I'm concerned about his

suggesting rather drastic surgery for a problem that your daughter might

very well outgrow. When our daughter, , was five months old, she had

to have a tracheotomy for obstructive apnea. Her case wasn't identical to

yours (what one is?), and the trach itself was a difficult thing to deal

with, as it necessitated nurses being in our home at night while the rest of

the family slept. But it's simple surgery, and when Becky was nearly 3 years

old, it was simply a matter of closing up the trach. Her health has been

excellent ever since, and she's now 13 years old.

In a baby with achondroplasia, you've got a lot of different things going

on: the ribcage is too small for the lungs to expand fully, the airways are

too small, and because everything else is so small, the tongue, which is not

affected by dwarfism, seems proportionately too big. I would certainly not

allow reconstructive surgery on a six-month-old's tongue without getting a

really strong second opinion by a doctor who thoroughly understands

achondroplasia.

I hope this helps. Best of luck.

Sincerely,

Dan Kennedy

[Guest guest]

-

Hi,

I agree with Mr. Kennedy. Dr. Cheryl Reid would also be my first

choice. She has a wealth of knowledge.

We first met her at a convention in Winnipeg, Manitoba. Our son was

having many serious medical issues related to his undiagnosed

skeletal dysplasia at the time (everything from having seizures in

his sleep to having serious problems with his hipjoints). We

weren't getting anywhere with the Dr.s where we live. Dr. Reid

confirmed there were many serious issues going on. She steered us

in the right direction to get the help our son needed. She is

wonderful.

- Marj. (Canada)

-- In dwarfism , Dan Kennedy <dkennedy@...> wrote:

>

> Dear Greg --

>

> First, if you're worried about alienating your primary doctor,

perhaps you

> need a new primary doctor. No doctor should feel threatened by

your trying

> to do all you can for your child.

>

> Now, then. I would say that you need to get a second opinion as

soon as

> possible. My first choice would be Dr. Cheryl Reid, whose contact

> information can be found here:

>

> http://www.lpaonline.org/lpa_mab.html

[Guest guest]

Dear Greg,

I emailed you privately, but thought I'd post a brief response here as

well.

As per Dan, Don't even think of doing any surgery!! Not without an

opinion from a pediatric pulmonologist and a dwarfism expert. Your

people mean well, but don't always have a real clue that when dealing

with dwarfism, it is an different ball game.

Our daughter is *still* on CPAP and has been since her revealing sleep

study at 6 months of age. She's 5 (or will be in a week), so she

hasn't outgrown it yet. She's had a T & A (at 15 months), and sinus

enlargement due to chronic sinus infections (at 31 months), turbinate

reduction since we were in the area anyway, but nothing more drastic

than that.

Our ENT has mentioned the jaw surgery, but only as an " option on the

list. " He wasn't making a case for it, or against it, just mentioning

it.

CPAP was extremely ugly initially, but our daughter is so used to it,

now it is part of life. She even puts it on and turns in on herself a

great deal of the time now.

Marina Larsen

Message: 24

Date: Sun, 23 Apr 2006 23:14:59 -0000

From: " gregcraven1000 " <gregcraven1000@...>

Subject: Obstructive sleep apnea in 6-month-old

This is a long post, but I'm a precise guy and a worried parent, and I

would like your help.

I have a lovely six-month-old achondroplastic girl (my wife Jodi and I

are both average-statured), who has recently been diagnosed with

obstructive sleep apnea, and I need some help clarifying next steps.

[Guest guest]

hi greg

my daughter was the same when she was about that age.

she had the surgery when she was 8 months old. we were

lucky enough to have dr pauli near us , who in my

opinion saved her life. he has an article on the lpa

websie. here is the link

http://www.lpo.on.ca/SPINEANDCORD.HTM

if clicking on the link dont work, then please go to

the lap site and read the article on spine and spinal

cord problems by dr richard pauli.

i have copied and pasted a portion of it for you that

was the cause of my daughters spleep apneas

,,,,Cervical cord stenosis in infants with

achondroplasia. A few years ago, with the help of many

colleagues, I recognized that a small number of

infants with achondroplasia appeared to have risk of

sudden and unexpected breathing problems that could be

life-threatening. Ultimately it became evident that

those risks are related to abnormal stenosis at the

foramen magnum - the opening in the skull between the

base of the brain and the spinal cord. Such stenosis

apparently can sometimes damage the breathing control

centers in the base of the brain. Babies can't tell us

if they are having symptoms of cervical spine

stenosis. Evaluations done here and elsewhere suggest

that infants at special risk can be identified,

however, with certain special evaluations. For this

reason I recommend that every baby with achondroplasia

be seen in a clinic specializing in bone dysplasias

and have an evaluation including careful neurologic

examination, overnight sleep study (called a

polysomnogram), neuroimaging (using CT scan or MRI

scan to look at the region of the foramen magnum) and

so forth.,,,,

anyway , just thought i would give you my experiences

with this . im sure you have gotten tons of responses

on here.

if you have any questions, feel free to email me. take

care and i wish you and your family well.

--- gregcraven1000 <gregcraven1000@...> wrote:

> This is a long post, but I'm a precise guy and a

> worried parent, and I

> would like your help.

>

> I have a lovely six-month-old achondroplastic girl

> (my wife Jodi and I

> are both average-statured), who has recently been

> diagnosed with

> obstructive sleep apnea, and I need some help

> clarifying next steps.

[Guest guest]

hi i am a parent with a acon that has sleep apnea and she is 16 months old they

have put her on a c- pat machine at night and oxygen during the day. i wouls see

a specailist that know more about acons and that can help u with this .better

idea have then do a sleep study on your daughter and go from there that is where

i had to go and they are teh ones that had my daughter put on a cpat machine her

oxyang rate goes below 90's alot and a sleep study may help u more

gregcraven1000 <gregcraven1000@...> wrote: This is a long post, but I'm

a precise guy and a worried parent, and I

would like your help.

I have a lovely six-month-old achondroplastic girl (my wife Jodi and I

are both average-statured), who has recently been diagnosed with

obstructive sleep apnea, and I need some help clarifying next steps.

[Guest guest]

My daughter, 3 1/2 Achon, had severe obstructive sleep apnea, and at 2

1/2 she had her tonsils and adenoids out which helped considerably. In her

follow up sleep study 5 months later it read " normal " , she had mild apnea as

an infant so I don't know if this information is of any use to you. We

tried her on a c-pap when we found out it had progressed, and couldn't get

it on her at all. Can you wait and see if she grows out of it to some

degree? Our daughter has really low tone and it's taken her a while to build

up all of her muscle, throat included but she's trucking along.

Good Luck,

Jill- Seattle, WA