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.