10 years ago this week, I was hospitalized for dehydration
in my first pregnancy – I was expecting twins.
We didn’t think much at all about the dehydration and we just imagined I’d
get some fluids and go back our normal work and doctor appointment schedule.
Things were different starting at 20 weeks, when they
noticed that Alexis’ neck was abnormal, that her heart maybe had a defect of
some sort. We did amnio and then
scheduled our follow-up for a fetal echo and to meet our first
cardiologist. Amnio didn’t reveal
anything and the echo didn’t show anything abnormal.
 |
| Alexis on the airplane! |
When Kaitlyn died sometime between 24 and 29 weeks, I was
put on mandatory bed rest and we got to do every three day visits to
Boston. It was then we were very
thankful to be in Boston.
Alexis ‘stayed put’ and she was delivered at 37 weeks. I’ve chatted about all of these things a lot
this week – meeting with doctors at Duke for the first time. Alexis has seen specialists in genetics,
neurology, orthopedics, GI, eye, dentistry and kidney areas. Some of them know our Boston doctors – which
is reassuring. Some of them know really
well what Alexis is going to tolerate and what Alexis is not going to tolerate. Some of them even know when to tell she’s
DONE and some of them think she can push through and cooperate with them.
We have done a lot of waiting. Hands down, Alexis is much more patient than
I am. She’s a role model for
entertaining herself and being flexible.
Mom isn’t so much. In fact,
Alexis deserves a real vacation after this – and I will remember that no matter
how fun it is to spend hospital time – compressing it into 1 week is like a
full-on marathon.
Monday started with genetics – we talked for 5 hours. I would like to think some of that could have been shortened, but I don’t know how to get around it any other way. They asked about the reports we had provided from Boston Children’s Hospital. They asked about details on Jessica.
 |
| Alexis waiting for Full Body X-Ray |
 |
| Full Body X-Ray Brought to you by PHILIPS. |
After x-rays, we went to orthopedics. Alexis
demonstrated walking and spinning in a chair.
She was in a great mood because they had one of her favorite Elmo-Cookie
toys --- it was awesome to see her ‘old friend’ – it’s one of the toys we don’t
have any more. Orthopedics said she looked
good and they were impressed with everything she was able to do. They were a little concerned about her tight
hamstrings and her crouched walking and standing position. We were done, it was a full day and we were
allowed to go back to the hotel to recoup and regroup for Tuesday.
Tuesday started with a bang – we had to get blood drawn. Because this is a ‘whole family’ study, they
took blood from me and Alexis. Alexis
got to go first – had to stick her twice and she was very grumpy and didn’t
want to give a whole lot of blood at all.
 |
| Alexis waiting for GI |
Then we went to GI
– we talked about her episodes that she used to have – including retching and
not being able to tolerate her g-tube formula.
We have been ‘treating’ those with probiotics and she doesn’t seem to
have GI issues as long as she stays on her probiotics. We talked a bit about Jessica and her GI
intolerances.
When we met with Neurology,
he had lots of questions about her brain studies – CT / MRI / sleep studies /
EEGs. Well, that’s a long list. We have gone to BCH for different
neurologists, but we don’t regularly get followed by one. We do our sleep studies with Pulmonary or
ENT, but there is a lot of information on the sleep studies. We talked a while about the ‘central sleep
apnea’ that Alexis had when she was about 2 months old that we treated with
caffeine until she was about 1 year old.
It stumped the Doctor (like us) as to why Alexis would have developed
central sleep apnea after not having issues when she was first in the NICU.
 |
| Alexis Chillaxing on Mom at Dentistry! |
That day was short so we got a chance to visit with friends
that night. On Wednesday, we had early
start with dentistry – she was
fabulous. She talked about techniques
and support for Alexis’ in tooth brushing and flossing. She really understood what Alexis was going
to be able to tolerate and what she was getting grumpy about. She talked a lot about when Alexis might get
her front teeth and strategies about potentially pulling some teeth to give her
mouth a little bit of space.
 |
| Alexis waiting at Nephrology! Happy! |
After dentistry, we had a kidney ultrasound. Alexis
enjoyed that testing the most. She got
to lie on the table and have someone else do all of the work.
Then we went to Nephrology – we got a chance to talk about the medications we
started in February 2007 and discontinued in August 2010 for Alexis’ pseudohypoaldosteronism
type II. Well goodness me, if I had
known we were going to cover all of these indepth questions – I should have
studied! It’s good that I’m good with
dates and that I remember most of this – but remembering the names of the drugs
and the specifics of discontinuing them…. Well, let’s just say it’s a slow
conversation. Alexis was not a fan of
the urine cath that they did after
that appointment. And even less of a fan
of the blood draw after that – she
even threw her favorite toy. It was a
toy we had as a hand-me-down from my sister – and my 21 yr old nephew used
it. So it cracked and Alexis looks at it
now like “well, how come it broke, Mom?”
Hopefully we can do adequate surgery on the toy when we get home.
After that, we were done for the day. Totally done she said.
Thursday started with the eyes -- seeing folks at the Duke Eye Center. We saw an optician who told us that Teller
Cards aren’t used to diagnose vision in kids after age 2. She asked if Alexis would talk and then asked
if Alexis would name the letters and then asked if Alexis would match photos…..
I said no to all of the questions and then she dilated Alexis’ eyes and sent us
off for photos of Alexis’ retinas. I
should have just said “no” especially since we tried for 30mins of fussing and
fighting to get photos of her retinas.
She had to be able to hold her chin in one of those eye doctor chin
things – then they needed to move a camera in and out to get the right angle
for the photo. Alexis did not
cooperate. At all. She was done after the first five minutes L They did manage to get the retina
photographed of the left eye but she was adamant, no paparazzi of her right
eye.
Then, we were sent back to the
original waiting room – and the ‘Fellow’ came out. Keep in mind, Alexis knows eye doctors need
to see her eyes and her reaction to having her eyes dilated is to just keep her
eyes shut. Especially when they want to
shine bright lights into them --- She’s a good sport, but this was starting to
get on her last nerve. The fellow poked
around then finally the eye doctor came in.
And sure enough Alexis was increasingly more and more rude to them
all. She didn’t mean to be, but she was
really upset with them about the whole series of events.
Now we are eating lunch and taking a break before our 1:30pm
wrap-up with Genetics team. It’s been a
tough 4 days – mostly for Alexis. We are away from home, we are sleeping in a
hotel, we are missing routines, we are waiting in waiting rooms and we are
getting poked all week long! She’s a
tough cookie, she’s always showed us that – hopefully with this information and
the Whole Genome Study – we can figure out her secrets. And hopefully get more information to help
her be stronger, smarter and happier!
For more information about the Undiagnosed Diseases Network - read here: http://undiagnosed.hms.harvard.edu/
