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.