Visit with Dr. P

This week we drove up to Akron to have Madeline evaluated by a well-known dwarfism specialist who lives in another state but has clinics several times a year up in Akron.  The drive from Dayton was supposed to take about 3.5 hours.  It took a little longer because we stopped for lunch at Wendy's and then again to clean up the car seat and change Maddy after she threw up everything she ate that day.  At Wendy's Maddy instinctively dipped her fries into ketchup.  She really wasn't all that interested in eating the fries (or any of the fast food), but she liked the dipping.

Dr. P is known for doing a thorough examination of kids and then giving detailed explanations to parents. He did not disappoint.  Here are the main points of what we learned:

* Maddy's kyphosis, the outward curve in her lower spine, is mild.  He thinks that there is very little chance that she will need any major intervention as long as we continue to be mindful.  He said that she is old enough and has developed enough that we can start sitting her up a bit.  For strollers and high chairs he recommends keeping her reclined at 30 degrees.  Umbrella strollers, the kind with no back support, are still not to be used.  (Dr. P gave us much more information than our local orthopedic doc who told us at our last visit that "this will be the quickest appointment ever."  It's not a race.  Apparently patients who aren't surgical candidates just don't interest him much.)

* Dr. P was not surprised by Maddy's history of vomiting.  He said that reflux is quite common in kids with achondroplasia.  (I don't recall her local dwarfism docs ever mentioning this.  Interesting.)  The exact cause isn't known although there are several theories that he explained.  But he also said that we can't know for sure if it's reflux in Maddy's case - her improvement could be a delayed effect of her decompression surgery, or maybe she just happened to "grow out of it" at the same time she started taking the reflux meds.  Regardless, he was very pleased at how she's doing since being on the meds and recommends we continue with them.

* Her gross motor skills are delayed, as is expected with all achon kids.  He is not at all concerned that she is not sitting up yet.  He doesn't expect her to ever do a typical crawl.  She does have very loose knee and hip joints, and she will probably sit up and walk later than other achon kids, maybe when she's around 2 or 2.5 years old.  Although he did say that if we hadn't already told him that Maddy is cruising - standing and taking small steps while holding onto objects - that he would have predicted she would be delayed in that, too.  He said she must be very determined.

Dr. P spent about an hour and 45 minutes with us.  It was amazing.  He gave a more thorough and down-to-earth description of achondroplasia than we'd ever heard.  He gave Maddy a head-to-toe physical evaluation and she screamed her way through it.  He then waited for her to calm down and talked to us at length, answering all of our questions.  He said that Maddy's personality will serve her well when she gets older.

Dr. P and his staff were just fantastic.  They gave us some brochures and will be sending us a report detailing everything that was discussed at the appointment.  We are so glad we made the effort to get Maddy seen by him.

Post-Op Recovery

Here's the scar from the decompression surgery Madeline had about 2 weeks ago.  The incision is actually very straight but I can never get Maddy to hold her head still for a picture.  The hair is already starting to grow back where they had to shave it.  Other parents have told me that it should be barely noticeable as she gets older.

Maddy had a follow-up appointment with the neurosurgeon yesterday.  Everything's looking good.  He used absorbable sutures so there weren't any regular stitches to remove (yay!!).  When the doctor was done examining her, he turned to the other doctors (because there are always more than one) and said, "She's the only patient I've ever had who woke up after surgery and smiled at me."  Our sunshine girl.

The whole point of the surgery was to prevent problems associated with spinal cord compression.  She didn't have any symptoms to resolve.  So while other kids go through this surgery and their parents see improvement like better appetite or moving around better, all we have is the peace of mind that we are hopefully helping to prevent those problems for Maddy.  The one issue she had before the surgery that we thought might be compression-related was her unexplained vomiting.  Unfortunately she is still throwing up about once a day.  Kind of a bummer that we still don't know what's causing it.  The neurosurgeon was disappointed that the surgery didn't help with that.  We are still taking her to a GI specialist who she'll see again in February.  She's still growing and gaining weight, so no one is overly concerned just yet.  And really, most of the time Maddy doesn't seem to care that she throws up.  As long as we give her more food when she's done, she's pretty content.

Since she's been back home, Maddy has been moving around just as much as she ever did.  She's still combat crawling and trying to climb the stairs.  Sometimes when she's on her tummy she puts her forehead on the ground and flexes her neck like it's sore and she's trying to stretch it.  But she really hasn't given any other indication that she's in discomfort or pain lately.  In the first few days at home we gave her a couple doses of the heavy-duty painkillers.  We gave her milder pain medication daily, as needed, for about a week.  This past week it's been every other day that we give a dose of Tylenol or Motrin.  

The biggest post-op problem she's had has been with sleep.  Before the surgery she had been sleeping through the night.  The last two weeks have been like her newborn months.  She got up, on average, 5 times each night.  Sometimes nothing I did would comfort her.  After talking to lots of people, we're thinking that these are the negative effects of the experience of going through surgery and being in the hospital.  It makes me sad to think that she has undergone trauma.  But I know it's better than the alternative of doing nothing and watching her suffer the effects of compression.  Last night she only got up once.  Of course, I woke up half a dozen times thinking that she was about to cry.

Decompression Surgery

One week ago Madeline went to Cincinnati Children's for her decompression surgery.  She got her first pre-op bath at home Monday night and another bath at 3 a.m., the same time her strict fasting started.  We drove to the hospital at 4 a.m. to check in by 5:30.

She got measured and monitored in the intake room.  We waited there for a long time.  Then a whole bunch of people came in at once, just like our nurse predicted.  The nurse, several anesthesia people, and the surgeon explained what would happen over the next few hours.  They were all awesome.

Mike & I got to walk with Maddy all the way to the O.R. doors.  We handed her to the anesthesia team, said goodbye, and walked out to the waiting room.  And then I cried.

The procedure was technically called something like "posterior fossa decompression with neural monitoring."  That's a fancy way of saying the surgeon scraped away some of the bone at the opening at the base of the skull, to make the hole bigger so it's not squeezing the spinal cord.  There are, like, 800 things that can go wrong if your spinal cord is pinched.  Maddy also has cervical spinal stenosis, the fancy way of saying the vertebrae at the top of her neck, where the skull sits on the spine, are also part of the squeezing problem.  So relieving that pressure is called "cervical laminectomy," which means the surgeon cut away a section of the bone of the very top vertebra.

The anesthesia folks (seriously, we talked to at least three - 2 anesthesiologists and a nurse anesthetist) had described their part of the process.  They would put her to sleep with a gas mask, then start an IV in one of her hands for the anesthetic medication (just like she had for the MRI).  Then they would intubate her, start a second IV in the other hand, and start an arterial line to monitor stuff like blood pressure.  The breathing tube would be through her nose or her mouth.  Then they would set her up for neural monitoring to be able to see what was going on with her spinal cord at all times.  That would mean a bunch of little needle-like monitors all over her, and they might leave marks that looked like mosquito bites.  They told us that as soon as the surgery was over, she'd be taken to the ICU where we could see her.  They also warned us that we might be shocked at Maddy's appearance.  She might still have the breathing tube, and her face and head might be swollen and discolored because she had to be face-down for several hours.  It sounded awful.  So we were relieved when we finally saw her.

In the ICU shortly after surgery, looking much better than we expected.  They had her on an adult-sized hospital bed.  It was so strange to see this little baby at the top of this gigantic bed.

She was so tired and in some pain.  She was unable to move much for several hours.  They had her on some pretty strong painkillers the first day.

There were boards strapped to each arm that she absolutely loathed.  She figured out how to pick up her bottle with her left hand pretty quickly.  She spent about 24 hours in the ICU.  We were really lucky - she was placed in a "parent room" that had a pullout bed so I could stay with her overnight.  Though the monitors and alarms kept either one of us from getting much sleep.

On the second day she was transferred to the neurology floor, which had fewer monitors and was a little brighter and more kid-friendly.  I was hoping she would be allowed to lie flat in her crib since she sleeps so much better that way.  Nope, head had to be elevated.  She was in that room for two nights; I took one shift, then Mike took over until she was discharged.

It was hard to see her so tired, sad and uncomfortable.  We're used to seeing our sunshine girl who smiles all the time.

Shortly after getting to the crib in neurology, she started moving around a lot more.  She shook her head "no" a lot (especially when the nurses came in) and was able to roll onto her side.  Sleep was easier for her that way.  We never lost her pacifier because she almost always had it in her mouth.

Here's the best shot I could get of the incision site.  They took this bandage off and told us to leave the steri-strips alone, they should fall off in a week or two.  We have to wash around the area.  I told the surgeon I was scared to pick her up because I didn't want to hurt her neck.  He encouraged me to pick her up and said she'd heal better if she moved around like usual and we should just be careful with her in a common-sense way.

When they took out the IV from her left hand she could roll around much more easily.  She could almost roll onto her stomach but the board on her right arm got in the way.  She really, really hated that thing.  But she did sleep pretty well like this.

This was the night before she was discharged.  She had started out eating formula after surgery (even though she's graduated to whole milk at home) and we added some solids.  She did throw up twice, but that could have been an effect of the surgery and anesthesia.  They sent her home with prescriptions for Tylenol and Motrin, and some oxycodone if we needed it.  Oh, and she picked up a cold that kicked in right after she got home.

Her recovery has been amazing to see.  She moves around like she did before the surgery.  I thought it would take some time for her to pick up her head and crawl around, but she did it right away.  Having said that, she still has some discomfort or outright pain.  When she's lying on her back and we pick her up, she grimaces.  We use the OTC meds most of the time, only used the oxycodone once so far.  Sleep has been rough, and her congestion isn't helping.  She's not back into her usual routine just yet.  But considering that she just had neurosurgery one week ago, she's doing fantastic.

MRI

Yesterday afternoon we arrived at the hospital for Maddy's MRI.  They weighed her and then brought us to an exam room.

Madeline is not waving at the camera here.  She's trying remove the ID bracelet on her wrist by waving it around wildly.

Then she pulled on it, still trying to GET IT OFF.  Maybe I should have put it on her ankle.

A nurse came to talk to us about what to expect.  He also told us that we'd be waiting awhile.  The schedulers I spoke to on the phone failed to tell me that our arrival time was at least an hour before the actual scan.  And they were running behind.  Because it's a hospital.  (By the way, those same schedulers both urged me to get Maddy a morning appointment because of the fasting requirements, then told me that there weren't any morning appointments for the next month.  Very helpful.)

Still waiting.  We were in that room for an hour.  At some point the anesthesiologist came in to answer our questions and explain what she was going to do.  This was the person I had been waiting and waiting to talk to.  Over the last few weeks, every time I asked any other hospital staff about what kind of anesthesia Maddy would need, everyone was really vague and told me I'd have to wait to talk to the anesthesiologist we had on the day of the MRI.  I found out from other parents that some kids just get sedation (meds taken orally).  Other kids have to have general anesthesia (meds given through an IV).  The ones who have anesthesia often have to be intubated to keep their airways open.  

When we first scheduled the MRI, we were told that Maddy would have to have general anesthesia instead of sedation because of her problems with vomiting; they didn't want to risk her throwing up the medicine during the scan.  They said we'd get more info on the day of the scan.  Since most people I talked to had kids who had general and intubation, and some of the hospital staff led me to believe she'd require intubation, I was preparing myself for the strong possibility that Maddy would be intubated.  But our anesthesiologist said they would try general anesthesia alone, and if she vomited during the procedure or there was some other problem with her airway, then they'd intubate.  (Intubation scares me because it's an intervention, and it comes with its own complications and risks.)

They told us that starting the anesthesia and performing the scan would take an hour, and that it might take up to 30 minutes or so for her to wake up afterward.  We walked down the hall and I got to put Maddy on the scanner table.  They led us away before they put the gas mask on her.  I'm grateful for that.  Hearing her cry for us was hard enough.

Mike and I waited for an hour.  The nurse called my cell phone to let us know we could come back to recovery.  She was already awake and alert.  Mike told her to say "cheese" for the camera and she smiled.  We weren't expecting her to listen!

She was hungry enough to drink Pedialyte.  That stuff's nasty, and Maddy doesn't even like to drink fruit juice.  She must have been starving.  The anesthesiologist assured us that everything went fine and that they didn't have to intubate (yay!).  The nurse (in the background here) said they were prepared for everything and therefore didn't have to do anything out of the ordinary.

It was 6 pm when we left the hospital and got to sit in Cincinnati traffic.  We stopped for a quick dinner and let Maddy have some juice because she was still quite hungry.  Here is Maddy looking shell-shocked at the sandwich shop.

Playing with the band-aid where the IV had been.  That pacifier was her best friend yesterday.  She was a little off her game like we expected.  Her eating and napping have been a bit weird today, but she's doing fine.  I know that she will probably have many more MRI scans during her childhood, that she will require anesthesia again, and that she might have to intubated at some point.  Plus she is having surgery soon and that will be much scarier than this MRI.  But I'm glad we are easing into all the scary things she's having to go through this fall.

I'm guessing that it will take a few days for the neurosurgeon (Dr. M) to get the results of the MRI.  Maddy also has a sleep study on Friday, and the results of that will take about two weeks.  We're not sure what happens next.  Dr. M might get the MRI results and put her on the surgery schedule right away.  Or the sleep study might reveal something obviously urgent and they plan surgery based on that.  Or Dr. M might wait until he has the complete sleep study results weeks from now before he decides on a plan of action.  The uncertainty and waiting is frustrating.  But regardless of what happens, I am so grateful that we have the ability to bring Maddy to such a great hospital.  I feel like she's in good hands.

Waiting...

Okay, here's an update on Madeline's latest medical stuff. Back in September I took her to a pediatric GI doctor to see if there's a reason for why she throws up so much and still eats such small amounts of food. The doctor did not have any answers. But he did order some diagnostic tests.

First was the modified barium swallow. Maddy did fine. The speech therapist who was there did give me some tips on feeding her to reduce the vomiting. Since then, her eating has slowly gotten better but still isn't great. Anyway, the speech therapist and radiologist could find nothing obviously wrong with her digestive system that would cause her the problems she's been having.

The second test was a CT scan of her head. The GI doc ordered it because vomiting can be a symptom of things going on with the brain or spinal cord, and achon kids are more prone to have those problems. My big fear with the CT was that they might have to sedate Maddy to get her to hold still. But she was an angel and they just had to strap her down. That's why I knew something was up when the CT tech needed more pictures, even though Maddy hadn't moved at all during the scan. Turns out the radiologist saw evidence of spinal cord compression. He saw that the foramen magnum (the opening at the base of the skull) was a little too narrow, but since a certain amount of narrowing is expected with achon kids, they couldn't tell if it was a problem. The GI doc called me to tell me all of this a day or two after the scan. He didn't want to freak me out, but we needed to see a neurosurgeon.

So even though we already had a scheduled appointment with a neurosurgeon in December, we got bumped up to the end of October. (When neurosurgery makes time in their packed schedule for you, you know it's kinda serious.) We headed to Cincinnati Children's. I was a little concerned when the intake nurse seemed to have no knowledge of what achondroplasia is. He was asking all these questions about her development, and I could not seem to get through to him that there is a totally different developmental growth chart for kids like her. But then we met Dr. M who does have experience with achondroplastic patients. He got to the point pretty quickly: he looked at the CT scan, and Maddy has cervical stenosis and spinal cord compression that warrants surgery. He emphasized that it's not an emergency, but that we don't want to wait many months. He said there's a 99% chance that he'll want to operate by the end of the year. But first he wants her to have an MRI to confirm that that's the right course of action. He also wants a sleep study to see if she has any central or obstructive sleep apnea. After he gets the results, they will find a spot for Maddy on the surgery schedule.

Getting these tests done has been slow and frustrating. She was supposed to have the MRI last week but came down with a cold. She has to have anesthesia during the MRI and they can't intubate her if she's congested, so we rescheduled for next week. Part of me was disappointed that we didn't just get the MRI over with last week. I've been so anxious about it, and I just wanted to get it over with.

Then there's the sleep study. I finally took her to the initial appointment at the sleep study clinic today. A nurse practitioner examined Maddy and took a look at the results of her sleep study done in Germany when she was only 2 months old. The NP said that she thought the sleep apnea had been more serious than the report indicated and that we definitely should do another sleep study. But of course they have a full schedule and they're trying to find a time to squeeze us in next week. Then it'll be another 2 weeks before they get the pulmonologist's report. At one point the neurosurgery department thought they might be able to get Maddy into the O.R. at the end of November, but I don't see that happening without these tests getting done quickly.

So there you have it. Now we wait - wait for tests, wait for results, wait for surgery. The word "neurosurgery" nauseates me. But like Maddy's pediatrician told us last week, this kind of surgery is easy compared with other procedures that neurosurgeons perform. It should only (haha, only) take about four hours, with a three- to five-day recovery time. It's still scary stuff. Finding other parents online who have already gone through this with their kids is helping a bit. This is a whole new world that I'm just not prepared for.

Madeline's Medical Stuff

The whole point of us moving back to the states was to get Maddy medical care, so we were expecting to have lots more appointments and tests.  Here's what's being going on since her appointment with the specialist in Cincinnati last month...

Dr. T had told us to see an ENT in Dayton because it's so common for achon babies to have ear problems.  A few weeks ago we saw Dr. M in the base clinic.  At first he didn't understand why Maddy was even being seen by him because she didn't seem to have many symptoms that would require his care.  But then she had several tests in audiology.  Turns out that Maddy had fluid in one ear, and was about to have fluid in the other one.  Her hearing was somewhat impaired at the time of the hearing test, and she was having trouble hearing low-frequency sounds.  Though she never showed signs of an ear infection, she does sometimes tug at her ears, probably because of the fluid.  Bottom line: she needs tubes.  Dr. M said it wasn't an emergency, but urgent enough that he wanted the procedure scheduled in about a month.  Unfortunately the knucklehead gentleman who scheduled it screwed up and is now trying to push her surgery date to the end of October.  *update: surgery is 4 days from now..the same day we get our household goods delivered and were supposed to move into our house*  Since she's just getting tubes, she'll only need a face mask to administer gas during the procedure.  The whole thing should take half an hour.  If she ends up needing another set of tubes in the future, that's when they'd take her adenoids out.  That's the surgery that requires full anesthesia, and that's where achon kids require special attention and should ideally be operated on by a surgeon familiar with achondroplasia.  We'll cross that bridge when we come to it.  Also, Dr. M looked in her throat and said her tonsils are already enlarged and will probably have to be taken out when she gets a little older.

Since she got the diagnosis of kyphosis (heh, rhyming) we've been extra careful in holding Maddy and supporting the bump in her back.  We also started taking her to both occupational and physical therapy, each for one hour a week.  Therapy is controversial for achon babies because a) some people say there's no need for therapy, these babies will develop in their own time, and b) therapists who push kids too hard to meet milestones, especially milestones designed for average-height kids, can actually do more harm than good.  Dr. T had told us we should do whatever we wanted with therapy, but to beware of pushy therapists who don't understand Maddy's timeline and limitations, especially since she has back problems and should not do some things like sitting unsupported.  Well, I managed to find the kind of physical therapist that we were trying to avoid.  He was setting inappropriate goals for Maddy, seemed to ignore me the several times I told him that she shouldn't lean forward or sit unsupported, and just didn't have a good way of interacting with Maddy.  So after three sessions and a discussion with Maddy's base pediatrician, we put PT on hold until after she turns one and we can talk more with Dr. T.  What's really awkward is that the occupational therapist is really great, but she works for the same therapy group as the PT we just quit.  I see some tense moments in the future...

Maddy's back and ear problems are related to her condition, but she's been having eating problems that have nothing to do with achondroplasia.  For months she couldn't hold down more than an ounce of pureed baby food once a day, and she ate formula around the clock.  Last month the pediatrician gave us a referral for her to be seen by the pediatric GI doctor at the local children's hospital, and we'll see him tomorrow.  In the last few weeks her eating has improved - she is up to stage 2 foods (combination foods, some slightly thicker) twice a day, up to 2 ounces at a time.  She still has two bottles at night, but that's an improvement.  She still won't eat more than 4 ounces of formula in one (very slow) feeding but I've heard that some babies are just that way.  The pediatrician is still hoping that this is a stage that Maddy won't be in forever.  She said that if the GI doc is concerned for some reason, he might want to do a scope...and that means anesthesia.  So let's all cross our fingers and hope it's just a stage.

Maddy in Cincinnati

Yesterday we drove Madeline to her first appointment at Cincinnati Children's Hospital to be evaluated by a genetics doctor who specializes in dwarfism.  She loved being in the hospital: new sights, bright colors, and loads of attention.

I wish our kids were this happy at every doctor's appointment.

First we met with a genetic counselor who took Madeline's history.  Then we waited for Dr. T to come in...and Maddy rolled around on the exam table.  It was nice to be able to focus so much on her instead of having to divide our attention between the two kids.

It was such a relief to meet with a doctor who has seen patients like Maddy many times.  Dr. T was great - he took time to talk with us and answer all of our questions.  In a nutshell, he said that Maddy's doing great and will be referred to other specialists for evaluation, just like his other achon patients.  But she does have the beginnings of kyphosis (an outward curve in her lower back) and there are things we can do to keep it from getting worse.  He gave us a lot of information on what to expect over the next couple of years. 

Here's a rundown of what we discussed about the care she'll be receiving:

• She'll see a neurosurgeon (at the same hospital) when she turns one year old.  The neurosurgeon will check for hydrocephalus and evaluate her foramen magnum (the opening at the base of the skull).  If that opening is too narrow, it could compress the spinal cord and it would require surgery.  But she had an MRI when she was a newborn that showed she had a good amount of space.  She may have an MRI when she is a year or two old to see if there have been any changes.
• She'll see an ear, nose and throat doctor to check for fluid in her ears.  Dr. T said the ENT docs at Dayton's Chilren's should be able to take care of that.  If they find that fluid is getting trapped in her ear canals, she'd have to have tubes put in and possibly have her adenoids and tonsils taken out.  That's to avoid ear infections as well as hearing and speech problems.
• She'll see on orthopedic doctor, at Cincinnati, in three or four months, around the time she turns one year old.  That doctor will check her spine and possibly get a baseline spine x-ray.  If Maddy's kyphosis gets worse, we might have to put her in a brace, something she'd have to wore almost all day long for many months.  And if even that didn't work, they'd consider surgery.  There's no way to know yet if we'll have to resort to those measures, but it's good motivation to do what we can now to keep her spine as straight as possible.
• Her regular pediatrician can also check her spine and hips at her regular checkups.
• He doesn't condone or condemn physical/occupational therapy and it's up to us what we do. He said there's no great advantage to putting her through therapy. If we decide to proceed with it, we should make sure the therapists don't push her to reach milestones. Therapy should be more about watching her for problems, like with her spine.

He also gave us some tips and hints about what to look out for with her development.  She's double-jointed so she's really flexible, and if we hear a popping sound from her hips it's nothing to be worried about, as long as she's not in pain.  When she starts crawling she might do a "wheelbarrow crawl" and drag her head on the ground in front of her.  She might sit up somewhere between 12-18 months of age but that's just a ballpark guess.  When she's ready to sit up we should place items high up to enourage her to reach and sit up and keep her spine straight instead of slouching.

Her spine is the most pressing concern right now, and kyphosis is really common in achon babies.  Dr. T said it will get worse until she stands, somewhere around 18 months, and then it will start to get better.  He said her head is like a bowling ball sitting on top of her spine.  It's very important for us to support her back and either keep her flat on her back or sitting up straight with lots of support, no slouching.  When she's in her infant car seat, we can roll up a towel and place it behind her back for support.  And of course we should keep her rear-facing.  Even when we're holding her in our arms, we need to always keep a hand pressed against the part of her spine that bulges out.  That's going to take some practice...

At then end of the visit, Dr. T asked if we'd like to get in touch with the families of other LP kids in the area.  I was kind of hoping to meet other families with achon babies at some point, but Dr. T said that there was a wave of kids all born around the same time several years ago and they're all older now, plus they get together on their own and aren't very involved with LPA anymore.  We did meet with several families at an LPA meeting last month that I hope to see again in the coming months.  After our appointment was over we met up with someone we met through LPA who also works at the hospital and got some great advice from him.  I think I can speak for Mike when I say that we're really happy to be getting medical care and social support here.

Terminology

We've had some questions recently about what words are appropriate to use in reference to Madeline's condition.  Here's what we've found from books and online sources:

In the U.S., "dwarf" and "little person" are considered appropriate terms for a person with a form of dwarfism.  Also acceptable are the phrases "person of short stature," "short-statured individual" and "person of restricted growth" (but my oh my that's a lot of syllables for normal conversation).  And the plural of "dwarf" is "dwarfs," not "dwarves."  I'll be sticking with "dwarf" or "little person" for the time being.

Many people would find these statements to be okay:

"My daughter has dwarfism." - refers to her condition, not labeling her as a person; this is a statement I use.

"My daughter is a dwarf." - acceptable, but again, a label.

"My daughter is a little person." - another label, and I'm not sure the public at large would know what it means.

I've tried saying, "My daughter has achondroplasia" and not only is that a mouthful, the vast majority of people have no idea what I'm talking about.

Technically, the terms "midget" and "dwarf" are sort of synonyms in modern times (I won't go into the differences) but it's recommended to stay away from the term "midget" which can be seen as derogatory.  Unfortunately, activities such as "midget wrestling" and "midget tossing" exist, which really doesn't help make the m-word any better.  I'm to the point where I cringe when I hear it because I understand it as an offensive term now, although it had no effect on me pre-Maddy.  I just didn't know anything about the differences between all the terms.

When talking about people who do NOT have dwarfism, it's more acceptable to say "average height" than "normal."  Also, within the little people community there is some shorthand for certain terms, and "achondroplasia" can be abbreviated to simply "achon."  So, I can say that I have one average-height child and one achon child.

I should say that, like other words used to label an entire group of people, all of them are offensive or unacceptable to some people somewhere.  But it's politically correct now to use "dwarf," "little person" or "LP."  And there are some little people who would rather not be labeled with ANY terms.  We are just starting to learn about these things, and I'm sure at some point I'll look back at things I said on this blog and smack my head over my own ignorance.  But for now, we're just doing the best we can.  

Bottom line:  "dwarf" and "little people" = good.  Although in reference to Madeline you can feel free to use the terms we use most, like "sweet baby girl," "precious angel," "snuggle bunny" and "sugar toes."

Holding Madeline

We have to be extra careful with Madeline's head, neck and back.  Her large head puts a lot of strain on her neck and lower spine, and her neck and back muscles aren't very strong yet.  If she sits up without support for too long or doesn't have firm back support, she could develop kyphosis (a hump in her back).  Supporting her back while holding her is important.

 There are also restrictions on the kinds of baby carriers and equipment we can use with her.    Some infant swings allow too much of a curve in a baby's back or swing in a motion that could cause injury for a baby like Madeline.  This swing (an awesome hand-me-down) has a solid, straight back that only elevates her head about 45 degrees.  It also has a slow front-to-back gliding motion that is easy on her neck.  Unfortunately for me, she has limited tolerance for this swing right now.  I hope she starts to sit in it longer.

 

We need to avoid umbrella strollers because they have soft fabric backs and don't recline far enough.  This European stroller (again, an amazing hand-me-down - we have some great friends) reclines almost completely.  She is happy in it for a decent stretch.

 I have read that the best place for babies with achondroplasia is the floor or some other flat surface.  That would be fine with us...it's just not fine with Madeline.  She would much rather be held.  So at mealtimes Mike and I sometimes take turns holding her...

...but if we're lucky she sits near the table in her rocker.  And it's another hand-me-down!  I don't know what I'd do every day without this rocker.  Soft slings or carriers that don't support her head and neck are highly discouraged.  So, no Baby Bjorn or Moby wraps for us.  But this rocker has the same solid, straight back and 45-degree angle that the swing/glider has.  It's technically for newborns, but her size and the fact that she's not rolling yet will allow us to keep her in it for longer than usual.

The best part: SHE SLEEPS IN IT.  Even on a bad nap day, odds are she'll at least take a catnap in her rocker.  I think having her head a bit elevated makes it easier for her to breathe when she's congested.

But she would still rather be held.

Sleep Study

Last week, Madeline and I spent the night at a children's clinic in Heidelberg (about an hour away) as part of a sleep study to determine whether she has sleep apnea.  She's not showing any signs of it at home, but it's common enough in babies with achondroplasia that our pediatrician wanted us to get it checked out.  It took two months to get an appointment.  We checked in around 4 pm and left around 8 am the next morning.  The doctor said he'd contact us that day if he noticed any obvious problems.  Otherwise, we'll get the results in a few weeks.

Sorry for this horrible picture, it's a photo of a photo from my cell phone.  The doctor hooked up about a dozen leads on Madeline, on her head/face/chin, chest,and abdomen.  Plus the little pulse ox monitor on her foot.  She had netting on her head to keep everything in place.  It was weird not to see her signature mohawk.  She also had a nasal cannula taped to her face to measure the pressure of her breath.  There was a camera set up to film the bassinet and my bed just beyond it.  Since she had just gotten her immunization shots that morning, she was nice and tired and slept most of the time.  At home, she naps in her pack 'n play and spends part of the night in a bassinet beside our bed, but most of the night she usually co-sleeps with me.  So for the sleep study, she started out in the hospital bassinet but got restless in the evening.  The doctor told me it was fine to bring Madeline into bed with me if she'd sleep better that way, so that's what I did.  But the night nurse got irritated that she couldn't see Madeline as well as when she was in the bassinet.  So I spent two hours in the middle of the night trying to get Maddy to sleep in that dang bassinet.  Didn't work.  The nurse faced it that she'd sleep better with me, and the whole point was to GET HER TO SLEEP (that would be the "sleep" part of "sleep study").  Madeline slept for the next four hours straight.  She woke up at exactly 7 am, and I was so ready to get out of there.  It was cold, the nurses weren't particularly nice or helpful, and many of the other babies on the ward were not as calm and sleepy as mine and spent much of the night screaming.  It took four trips up and down the hall to find a nurse who could unhook Madeline from all the wires and let us leave.

Waiting for freedom.  This little girl is such a sweetheart - even hooked up to all those wires, she was still smiling at her momma.  Oh, and that mesh cap was no match for her mohawk: by morning the cap was completely off.

The adhesive gunk that held two of the wires to her head.  It came off pretty easily with a lot of shampoo.  The doctor never called us, so we're hoping to get a good report in the mail in a couple weeks.  He said that since she hasn't shown any signs of sleep apnea so far (her lips never turn blue and we never notice her not breathing) that there's a good chance she's fine.  Part of why I like co-sleeping with her is that I feel like I'd notice if there was a problem with her breathing.  The cuddling doesn't hurt, either.

Checkup & Medical Stuff

Last week Madeline had her two-month checkup.  There’s a special set of growth charts for kids with achondroplasia that Dr. O uses to track Madeline’s height, weight and head circumference.  I always breathe a sigh of relief when they measure her head and say it’s not growing too fast.  Her height and weight are good too.  We went over how Madeline’s doing with the five areas of development.  She’s doing great with communication.  As Dr. O expected, she’s pretty far off with her gross motor skills and just a bit behind with fine motor skills.  So Dr. O put in a referral for someone from the early intervention office to evaluate Madeline and see if she could benefit from physical therapy.  Otherwise, we’ve got a happy, healthy baby – no signs of ear infections yet.  She also got a bunch of shots and was such a trooper: she cried for half a minute, then got back to giving everyone her sweet smiles.  And when I say "everyone," I mean the four other people in the immunizations room...it only took two of them to give the shots, but I think everyone there wanted to get a peek at Miss Maddy.  I think that kind of curiosity is something we'll have to get used to.

While I was I there, I told Dr. O that I had been asked some questions about whether there was anything that could be done to “fix” Madeline and that I felt silly for asking but felt obligated to bring it up.  Dr. O said that growth hormone really isn’t useful in cases of achondroplasia.  And as far as limb-lengthening procedures, she said it’s hypothetically possible for Madeline to someday have those surgeries and gain maybe a few inches of height but it’s controversial and it’s not a topic to bring up for many, many years.

This brings me to the topics I wrote about a couple weeks ago.  I wanted to give our friends and family information about Madeline’s condition – it’s rare enough that not many people have an understanding of what kids like her will be dealing with.  I think that knowledge is power, and I feel like discussing questions people might have now will help Madeline and the comfort level of the people in our lives in the long run.  But I think that information is a little tricky in the age of the internet.  Based on the small amount of research we have done over the last few months, and because we had gotten a couple of questions about whether Madeline would always be very short, I wrote that her height is what it is and that it can’t be changed.  However, that’s a very short, black-and-white answer.  I’d like to clear some things up.

• If you look online, you can find articles that discuss the use of human growth hormone on people with dwarfism that is NOT caused by endocrine problems.  However, this is controversial.  It is not mainstream, it has not been widely tested, and from what I’ve read and heard it hasn’t shown to be very effective.
• I was unclear about limb-lengthening procedures.  This is also a very controversial topic in the medical community and within the little people community.  I stated that Madeline could not be made taller by this method.  I should have said that, when she is old enough to decide for herself, she could theoretically go through this.  But odds are she would only gain a few inches of height.  Again, this is not mainstream, and I’m sure there are mountains of research and opinions on this out there.  I found one article that said a patient could end up being a whole foot taller after these procedures, but it didn’t state what all the articles I read did – that that’s probably an unreasonable expectation, and that these procedures can be very, very painful and may bring on medical problems that didn’t exist in the first place.
• Even if there were a procedure to magically make Madeline the height of an average person, she would still have dwarfism and all the other physical characteristics.  She’d still be at risk of ear infections, hearing loss, hydrocephaly, and back and ear problems.  My goal is to limit her medical issues, not add to them.

So here’s my point: we’re not seriously considering any procedures for Madeline that seem to us to be unnecessary.  I gave concise answers to the height questions because I wanted to make our stance clear and I don’t want people bugging us about it.  I’d rather people focus on accepting Madeline for who she is.  Achondroplasia is a condition, not an illness.  It is not something to be “fixed” as far as Mike and I are concerned.  Having said that, we still have a lot to learn and experience.  And we've been very, very lucky that the vast majority of people in our lives are so positive and supportive.  Okay, enough with this wordy post...I promise, more photos are coming soon.

Achondroplasia

In December, we took Madeline to a genetic counselor for lab work to determine what kind of dwarfism she has.  Last week we got the results, and they confirmed that she has achondroplasia just like the doctors thought.  Since we got a lot of positive feedback from people about December’s post about dwarfism, I thought this would be a good time to answer some more questions people might have.

How tall will Madeline be?

She will probably be somewhere around four feet tall.  That’s about average for females with achondroplasia.

What size clothes does she wear?

Right now she’s wearing clothes according to her age.  She’s wearing some newborn clothes and some three-month clothes.  Her torso will continue to grow at an average rate.  Her pediatrician says that in a few months her head will become noticeably bigger and her limbs will not grow as fast as her torso.  So when she’s six months old she might be wearing six-month clothes that fit her torso but I’ll have to hem her pants and sleeves.  Since her head is large, her newborn hats are pretty snug.  The winter hat I bought for her has a band that is now too tight for her to wear.

Is there a chance she could “grow out of it?”  Can she have surgery to lengthen her limbs?

No.  There are some forms of dwarfism that result from metabolic problems that apparently can sometimes be treated with medications or surgery in an effort to make the affected person taller.  Achondroplasia is not that kind of dwarfism.  This is how her bones were designed according to her genes, and that’s the way they’re going to be.

Will other people in your family have kids with dwarfism?

It is extremely unlikely that our existing family members would have a child with any kind of dwarfism.  Their chances are no greater than anyone else’s chances.  In our case it was a spontaneous genetic mutation, which means that it “just happened” for no known reason.  This happens in the vast majority of cases.   But if Madeline were to someday have a baby, there is a significant chance that her baby would have achondroplasia: a 25% chance if the father is average size, and a 50% chance if the father also has achondroplasia.

Do you have to treat Madeline differently than other babies?

In a few ways.  We have to be careful about using baby equipment that does not support her head because her neck is not strong enough to support it.  Right now we can’t put her in the papasan swing that we used with Ben.  Eventually she’ll be able to use it, but now her head falls to the side or down to her chest and could affect her breathing.  We won’t be able to use those foam seats for infants just learning to sit up because there is no back support.  Same for certain kinds of high chairs.  We won’t be able to use the jumper/entertainer that we had for Ben because bouncing at the stage that she’d be using it is ill-advised (more head and neck issues).  I’ve seen a few entertainers that stay stable or rock and don’t allow bouncing, so in a few months we might get one of those.  We'll also have to watch for signs of ear infections and sleep apnea because of how her ears and sinuses are situated.  She's having a sleep study next week to see if she has sleep apnea.  She does snore a lot and have a lot of congestion.

How will this affect where you get stationed in the Air Force?

We’re not sure yet.  First of all, let me make it clear that in no way does our situation give us a choice in where we’ll be stationed – wouldn’t that be nice, though!  A medical panel will evaluate Madeline several months before we’re scheduled to move and determine the kind of resources that we should have stateside.  At the same time, a completely different set of people in the Air Force will be determining where there’s a job opening for Mike in the states.  When a base is chosen, that base will take the information from the medical panel and determine whether they are equipped to support our family.  If not, then another base is chosen.  That base has to go through the same process.  Hopefully this will not be long and drawn out, but I won’t be holding my breath.  Right now, the medical people who have been involved with Madeline are saying that she needs a pediatrician and a developmental pediatric specialist.  I don’t have any idea how many bases would be able to provide that.  In a perfect world, we’d be stationed in an area that had a Little People chapter for social support, but from what we can tell there aren’t many places we could go that would have that.  Plus that is not at all a part of how the Air Force determines where we’ll go.

Is Madeline like the people on the TLC reality show, “Little People, Big World?”

Yes, Madeline has the same condition as the mom and the teenage son.  The father has a different kind of dwarfism.  I am so grateful for this show.  It’s something a lot of people have seen and gives them an idea of what we’re dealing with.  Mike and I had never seen it before, but we’ve been watching it on DVD and it’s a relief to see a kid and an adult with this condition, living relatively normal lives with some adjustments.

For people who have more questions about achondroplasia, I recommend looking up the website for Little People of America.  Or just ask us!  I think it’s great when people want to talk about it; that’s much better than pretending it’s not an issue.  Right now achondroplasia doesn’t seem like a big presence in our day-to-day lives, but I’m so relieved to have an official diagnosis and have some kind of idea what might be down the road for her.

Dwarfism

For those who don't know, Madeline has been diagnosed with dwarfism.  This wasn't a huge surprise to me & Mike since my high-risk doctor had noticed some interesting things back on that ultrasound several months ago.  But since I never got a chance to give any details here about her birth, I thought I'd explain more now about how she is being diagnosed.

We were aware that Madeline probably had some kind of skeletal dysplasia, which could range from something very mild to some horrible life-threatening condition.  My doctor thought there was a good chance that she had achondroplasia, the most common form of dwarfism.  We just had to wait until the birth to find out.  The first step would be for a doctor to simply look at her after the birth.  During my c-section, a doctor from the NICU (Dr. A) was in the operating room to evaluate Madeline as soon as she was born and determine whether she was healthy enough to stay with us, or whether they'd have to whisk her off to the NICU.  After she was born Dr. A examined her and told Mike it looked like Maddy did have dwarfism and that she'd order some tests for further evaluation.  I can't explain how relieved we were that she seemed to be healthy and did not have any immediate medical problems.

The next step was a skeletal survey, which is a whole bunch of x-rays.  From this, a radiologist determined that she had many of the characteristics of achondroplasia - but there were some things that might point to a different form of dwarfism, so he couldn't make a definite diagnosis.  While we were still in the hospital, Dr. A decided to proceed as if Madeline did indeed have achondroplasia and ordered a brain MRI to rule out certain problems that might come with that condition.  The results were normal.

Dr. A also explained a bit more about dwarfism and how it may affect the future for Madeline and our family.  In the long term, we don't know if she will have any medical complications.  She may need access to specific kinds of medical resources when we get back to the states.  She could possibly need resources like speech therapy, physical therapy and occupational therapy.  Or she may not need any of that.  But for now, we know to be prepared for possible delays in developmental milestones such as sitting up unassisted, crawling, and walking.  Because her head is large and she has decreased muscle tone, we need to avoid using baby equipment that does not provide support for her head since she will probably have trouble holding her head up for a while.  She may be more likely to have ear infections, and we need to watch out for sleep apnea.  She is scheduled for a sleep study in February.

We are taking Madeline to a wonderful pediatrician, Dr. O, at the Army hospital where she was born.  Dr. O pointed out some of Madeline's physical traits other than her short arms and legs that indicate achondroplasia, like the shape of her face, her prominent forehead, and the shape of her nose and eyes.  At one appointment she was slightly concerned about a sudden increase in Maddy's head measurement so she ordered an ultrasound to make sure there was no hydrocephalus, or "fluid on the brain" (there wasn't).  This is a common concern in kids with achondroplasia.  Dr. O also sent us to a German clinic in Heidelberg to speak with a genetic counselor and have bloodwork taken to see if they can confirm that Maddy has achondroplasia, and if not, what kind of dwarfism she does have.  We saw that doctor this week and hope to have the results from the blood test in about a month.  The genetic counselor said that it's certainly not necessary for us to do the blood test, but we'd like to have a definite diagnosis if possible because it would help us know what kinds of medical issues could be down the line.

All of this is very new to us.  First we were advised to not do too much research while I was pregnant (my doctor didn't want us stressed over nothing until we knew what we were dealing with), and then we scrambled to find information once she was born.  And while we've gotten great support from Madeline's doctors, they have very limited experience with dwarfism.  We are doing a lot of research on our own.  Mike and my sister Katie found the website for Little People of America, and it offers a lot of super-helpful information.  I also hope it will provide some social support for us as Maddy gets older.

Right now it's easy for me & Mike to forget she has dwarfism.  She is just our sweet baby girl.  There are only a few things we need to deal with that are different than what we're used to.  She is quite a bit top-heavy and we have to carefully support her head, and she has some feeding issues possibly due to lack of muscle tone in her face and tongue.  And I will need to learn how to hem her clothing - her newborn clothes fit her torso just fine, but her arms and legs get lost in the sleeves and pants.  She looks awfully cute in all the girlie outfits we have for her.  She is adorable in pink (thankfully, since that's most of her wardrobe!) and it looks like her eyes are already starting to turn brown.  I'd be shocked if they were any other color.  So far Ben is very good with her.  He kisses her goodnight, and he helps to feed her bottles.  I know Madeline's not even a month old yet, but right now she's a calm, mild-mannered baby.  I can take her in the car without her screaming her head off like her brother did when he was a baby, and she only cries when she's hungry or uncomfortable.  She makes the most darling facial expressions.  I love that she loves to snuggle.  We're looking forward to seeing more and more of her personality come through over the next few months.

A Concerning Ultrasound

There are certain words a pregnant woman does not want to hear during an ultrasound by a high-risk doctor.  Words like "very concerning" and "genetic abnormality."  But that's what I got yesterday.  I went to my appointment, a little anxious about how my recent diagnosis of gestational diabetes is affecting the baby.  That wasn't what the doctor was worried about.  I seem to be doing fine so far with my glucose, and though I've had an increase in amniotic fluid it's still within the normal range.  But when Dr. M. started to take measurements of body parts, she started talking quietly with the ultrasound tech.

At my last ultrasound a little over a month ago, Dr. M. commented on how Baby Girl has a large head and small legs.  It was just an observation at the time.  Neither is surprising: Ben had a big head in utero, and shortness runs in my family.  But when Dr. M. measured the legs again yesterday, she said they had not grown much in the last month.  That, in combination with the large head, points to a possible problem.

Dr. M. said it could just be that we'll have a short kid.  But there is a significant chance that Baby Girl has a genetic abnormality that is affecting her bones.  First on the list of possibilities is dwarfism (achondroplasia).  Dr. M. explained that  we wouldn't necessarily see it in our family history since so many cases result from spontaneous genetic mutation.  She also asked if we had any family history of "soft bones" because that disease could also present itself in this way.  

She said that genetic testing can be done to attempt to determine exactly what is going on, but it would be best to wait until after delivery - nothing can be done about it in the meantime anyway.  I was already scheduled to go in for regular non-stress tests starting next week; now I'll also be having weekly ultrasounds with Dr. M. so she can continue to monitor Baby Girl's growth and keep an eye on her.  Because we don't know what's going on with her, there's a chance she'll have to be delivered early, depending on what all the monitoring shows.  But assuming nothing distressing happens, she'll be delivered by c-section on Nov. 22nd.  Dr. M. said that attempting to deliver her naturally could be quite damaging if she has skeletal problems.

Thankfully, Mike was at the appointment with me.  When he asked Dr. M. if he needed to change his work plans to stay in town for the next 6 weeks until delivery, she put it this way: There's a chance that Baby Girl will have to come out early, and there's a chance she could be very sick when she's born, so the closer to home Mike can be, the better.  He is in the process of talking with his squadron leaders right now to see what they can do.  So far they have been very supportive.  (Mike goes on the road a lot, and fall is a busy season...he was supposed to go on tour in a different part of Europe and then go to the states for training at the end of the month.)

Dr. M. explained that if there is an abnormality, it is only physical and doesn't involve any kind of mental retardation.  She emphasized that there is nothing we could have done to prevent this, that these things just happen.  She also emphasized that she does not have a definite diagnosis yet but we need to be prepared and watchful.  And while a baby with short legs might just be short (or start out that way), the fact the her legs don't appear to have grown in many weeks is a big red flag.

I think I was kind of in shock hearing all this at the appointment.  Mike was of sound enough mind to take the rest of the workday off to stay at home.  Which was good, because the first thing I did when we got home was to google "dwarfism" - not the best thing to do.  I started reading about all the different types, including a fatal one (which our baby does NOT have) and the different physical ailments that come along with that diagnosis.  I was not at all reassured by reading about sleep apnea in infants and hearing loss.  But I did learn some things, and have come up with questions for when I see Dr. M. next week.

The good news is that much of the ultrasound was fine.  Besides the head and leg measurements, the other body parts are normal: spine, heart, kidneys, and most importantly there's no hydrocephaly (fluid on the brain).  And when Dr. M. went to scan the face (which was a tough one last time) she got some great shots.

 

 

So now we wait.  My first non-stress test is on Tuesday, and then I'll have another ultrasound that Friday.  And I won't be Googling any more medical terms between now and then.