semiannual trip to mito doc

This past week we made our semiannual Boston trip to see the mito doctor.  We first had an appointment with a physiatrist.  We weren't sure what to expect, and at first thought the appointment might not have been very helpful, but boy were we wrong.  The Dr. spent nearly two hours with us.  Eve was excellent and calmed down very quickly while we talked.  She even let him examine her and laughed when he joked with her.  We talked about the Baclofen she is taking for her legs.  He said that usually muscle spasms don't wake up a child, but that something else does and then the legs spasm.  However, because the Baclofen stopped her nightly wakings immediately, I suppose he agrees it is helping.  He was not at all concerned about her range of motion yet (unlike the previous physiatrist we saw who wanted Eve to immediately have leg immobilizers for nighttime to prevent contractures).  He said she looks great.  He also said that as long as she goes through the full range of motions with her muscles/limbs twice a day (which she probably does with her spastic movements throughout the say), she should be fine.

He did recommend a brace called a swash (standing, walking, and sitting hip orthosis).   When we hold her up and ask her to "walk" or stand, she crosses her feet at the ankles.  This can be bad for her hips (which are already slightly out of socket).  The swash brace keeps her feet/legs from scissoring, and will be great for her hip development.  He said that if we get a rolling stool (like in many doctor's offices), and we hold her up to "walk" in the brace for 5 minutes 2-3 times per day, that it would be awesome for her hips.  He said it would be better for her than the stander.  Although it could be worn when she sits, she wouldn't need it then because she doesn't cross her legs when sitting.  The doc called down to the equipment clinic and had a brace brought up for us to try out.  Eve loved it and it totally helped keep her feet from crossing.  So, he wrote a Rx for it and I can get Eve measured at an orthotics provider closer to home.  Here are some pictures of Eve in the trial brace:

Here she is getting fitted

We also talked about her digestive health.  He recommended increasing fiber to help move stool along her bowels.  As a muscle, her colon is affected by her disease and is slower than that of a typical child.  We also talked about how to get her on a BM schedule so that she could go in the evening (rather than in her diaper in public whenever the urge strikes).  Finally, he gave us his home email address in case we had any questions that needed a quick response or just wanted to consult with him rather than driving to Boston.  It was an amazingly helpful appointment.  Unbelievable, really.  Fantastic doctor.

We then had our appointment with the mito doc.  The previous doctor we had been seeing left the practice, and now it's just Dr. K.  He is pretty well known in the mito world, so we were pleased to see him.  He spent a long time with us and asked lots of questions.  I learned about Eve's heat sensitivity.  Because she really doesn't sweat much, heat can be a major issue for her.  He said it's best to cool her down with water (internally as well as externally) and it's bad news if she gets all pale.  We told him about her eyesight change and I mentioned how her eyes are always dilated.  He said that's because her autonomic nervous system is affected by the mito (e.g.,  the insufficient sweating).  We asked him if we needed to see him every 6 months, or could stretch it out because it's such a massively stressful trip to Boston.  He recommended we make an appt for 6 months from now and if when that time rolls around we feel we don't need it, we can cancel it.  However, he does want to see Eve every 12 months.  He said that his job is to monitor her and ask questions that other specialists might not be asking.  He is recommending further genetic testing to hopefully isolate the location of the mutation.  This would help to get Eve included in clinical trials and tell us if her mito disfuntion is primary or secondary to another disease.

One thing that concerns me is that doesn't seem to be growing much.  Her weight is still 35.5lbs and she is still 39 inches long.  However, she doesn't appear malnourished.  And, actually, the smaller she is the better as long as she is still healthy.  It makes it easier to care for her.  Dr. K should send a letter in the next few weeks detailing the appointment and I will post anything I've forgotten. 

In other news, Eve's dentist appointment is Tuesday morning.  We are also having a portable lift delivered on Wednesday.  That will lift her from bed to chair or chair to floor, etc.  This is so important since I only have 4 weeks until delivery of the new baby and it's getting really hard for me to care for Eve.  After the c-section it will be impossible to lift her for quite a while.  The lift will be vital. 

I'll update this week on the dentist appt and the lift.

pictures of the specs

Eve has been doing well with her new glasses. She's been keeping them on her face and watching TV through them. It will be interesting when she goes back to school to see how her behavior changes.

specs

So, I'm 33 weeks pregnant and caring for Eve is getting really difficult.  We're both getting so big. ;)  Consequently, I can't take her to appointments by myself anymore.  Yesterday we had quite the ordeal at the eye doctors and I am *so* glad that Jim was there to help.  It was physically and emotionally draining.

Background: Eve has had her eyes examined twice before (once at 2 years old and once last summer) with a result of slight astigmatism and eyesight that is fine.  Two weeks ago, Eve's teacher mentioned that they thought she might have eyesight issues.  She used to be able to identify classmates (e.g., "Where's Bobby?") by looking at them , but recently has been unable to do that.  The speech therapist recommended bringing the students closer to Eve (approx. 5 feet away) and suddenly Eve could easily complete the task.  This suggested an eyesight issue and not a cognitive regression.  So we made an appointment with a eye doctor in Pittsfield who has worked with kids with multiple disabilities (and has evening hours so Jim could come).

Eve has been a nightmare in medical settings lately.  I don't blame her.  She's had some invasive procedures this spring and has just been so fearful.  She cries the second she enters a waiting room.  So we tried to prepare her by telling her we were going to the eyeglass store.  When we arrived, Jim took her around to look at all the frames on display.  Bless her heart, she tried to keep it together but was wise to the situation.  Her lip kept sticking out.  When we got called back to the exam room, it was all over.  Screams and tears.  We tried everything.  That poor doctor.  She was barely able to examine Eve.  FINALLY, I stood holding Eve with her head looking over my shoulder and the doctor was able to look into her eyes with the light and little glass reflector.


Result?  Eve is significantly farsighted and needs glasses.  I asked why she was able to see classmates better up close if she is farsighted, and the Dr. said that totally can happen.  She seemed very surprised that Eve's last eye exam (less than 12 months ago) didn't indicate a need for glasses.  I explained that Eve's disease is progressive and involves muscles.  She wants to see Eve back in 6 months.  Anyhow, then we picked out some really cute frames.  They are purple and should be ready in about a week.  The Dr. thinks it will make quite a difference for Eve.

Jim and I talked about it afterward.  I think we were both surprised that Eve actually needed glasses. We didn't think her eyesight was really that bad.  Eve's regressions from mito have been so subtle that it's very easy to ignore the fact that she is losing ground.  When we are faced with evidence that regressions have occurred, it's a bit of emotional hit for me.  This is compounded by the fact that medical appointments are such an ordeal (and usually involve travel as well).  It's tough to keep it together when you just want to cry along side your child.  It's stressful because I feel bad for Eve (who is just so scared), for the doctor (who is just trying to do her job), and every other person in the office (who has to listen to the screams).  I also feel bad for me.   (BTW, you know you are having a pity party when you watch an episode of Extreme Home Makeover and start crying at how lucky the family is - BEFORE they get their home makeover - simply because the affected child has more independence, mobility, and communication than your child ever will).  I know that I am extra emotional thanks to pregnancy hormones, and some days are better than others.

I'll post pictures when we get Eve's new specs.  She will look so cute.

farms and the 'Luce' Tooth

Eve went on a class trip to a local farm.  Here are some shots of the animals she saw:

When flossing Eve's teeth nearly two weeks ago, we noticed that she's getting a big girl tooth. Unfortunately, it's coming in *behind* her baby tooth. Since then, it has come up more and there is a second tooth coming up next to it. The baby teeth in front of them are a little bit wiggly. Eve has a dentist appointment in 2 weeks, so we'll find out then if this is a big deal or not. Until then, she's my shark baby.

overdue pictures

Here are some pictures I promised:

Reverse Dog bite

Kate and Eve making cookies

My birthday in April

Grammie, Eve, PaPa, and Josie

UTI...again

Tonight I plan on posting some cute pictures/video, but for right now I just want to get out some details.

Two weeks ago, Grammie and PaPa came for a visit during Eve's spring break.  Eve had a blast.  A whole week of the world revolving around her - what could be better?  She really enjoyed their visit and so did we. 

The day they arrived, she developed a cold.  Stuffy and sick sounding, she got through the week with nightly decongestant, motrin, and a humidifier (incidentally, she had been off the mito cocktail for 2 weeks at that point because of a switch in formula and subsequent insurance denial of coverage...not sure if that is related).  We kept an eye on her.  Fortunately, after about 10 or 11 days, it started to improve on its own.  Usually these things end up needing some medical intervention because she can't seem to shake it.  It's now a full 2 weeks and she's just left with a cough at night.  However, I still needed to take her to the doctor last week.  She has stinky pee again.  I waited for about 2 weeks and then reluctantly took her in. Because of the two times that we asked for a urinalysis and it was negative, we're a bit gun shy.  What if we're wrong?  After a thorough airing of the pros and cons of getting a urine sample to test for a UTI (which needs to be done via catheter), we decided to do it.  And guess what....positive for e. coli.  So, Eve is now on an antibiotic and the doctor is ordering the blood test that the pediatric surgeon suggested (which will test for some enzyme or something that makes people susceptible to e.coli UTI's).  If the blood test is positive, Eve will go back on a prophylactic dose of antibiotics (like she was in GA when she had kidney reflux).  Also, she's back on the mito cocktail because the neuro and his staff worked very hard to get it covered. 

follow-ups

So, Eve has had a couple more Dr. appointments.  Two weeks ago, we went back to the pediatric surgeon to followup on the VCUG.  Unfortunately, she totally got sick in the car.  It was a mess. We thought it might have been car sickness, but I think it was a stomach bug.  Which I have to say is a relief.  I was not looking forward to another issue that we had to deal with.  Especially since 90% of her dr. appts are at least 1.5 hours away.  Anyhow, the pediatric surgeon said she does NOT have kidney reflux.  He did say that if she gets another UTI and they determine it is caused by e.coli, there is a blood test he wants her to have.  Something about some people having a predisposition for UTI's caused by e.coli.  It would require a prophylactic dose of antibiotics.  So, that's good.  We don't need to follow up with him.

Then on this past Thursday, we drove back out to Springfield to go to the Shriner's Hospital for Children for an orthopedic evaluation.  Her pediatrician referred us after we saw her about Eve's legs cramping up.  What a nice hospital.  Very chill.  It was amazing to see all the other children in wheelchairs.  Eve fit right in for once.  It made me a little misty.  Anyhow, they talked to us and moved her legs around.  They also took xrays of her pelvis.  I forget the terminology, but her hips are partially out of their sockets.  They said they don't think her muscle cramps are related to the hips, and that this is to be expected of a child who is in a wheelchair and doesn't stand, etc.  They said it may also be why she isn't tolerating her stander.  She doesn't really seem to be in pain because of her hips otherwise (e.g., diaper changes don't seem to cause discomfort).  One option would be to fix it with surgery, but there is no guarantee they wouldn't pop out again.   We discussed our philosophy that Eve's happiness is most important.  We are not interested in forcing a kid to have surgery if there is no hope she will ever walk or move independently.  The doctor agreed and said we should just monitor it for now.  We don't need to follow up with them (yay!) unless there is a problem.  And if it turns out that she is in pain from her hips we can always manage it with medication.

Speaking of medication, about a week ago, Eve started waking up again in the middle of the night.  I called the neurologist on Thursday and he increased her dosage of the Baclofen.  Eve woke up just once that night, but about 6 times last night.  It's very hard to be patient in the middle of the night when you need to get out of bed so many times.  She is clearly uncomfortable, and her legs are almost locked, making it too hard for her to shift position.  I don't know what to do.  I guess we see how it goes for another week and then call the neuro back.  We do have an appointment with a physiatrist in Boston in June. 

All else is well. I'm feeling great and the baby is kicking up a storm.  Jim is doing well and Josie is, well, Josie. A lovable pain in the butt.