Let me start off with stating that I’ve never really belonged to a support group.  I had friends with kids with different special needs, and we shared and supported each other as we could.  But there was no larger organization I could join, that would give me inside information, lists of places to go, or any sort of help or aide.  We’ve never qualified for extra help outside of school, there were no clubs or walks or awareness months.  For the most part, I did my best.  We managed, and others did try to help us out.

One of the things friends in Michigan worried about when we moved here was having support for  Maura.  I’ll admit, I was a little nervous about it  myself.  I also was worried about having pulled her out of school, away from her fabulous teachers and therapists.

Now?  Less worried about all that.

See, Maura’s new school is part of a bigger system that helps people with intellectual disabilities.  Part of joining the system is that you go see their doctor, psychologist, therapists…today, we saw the doctor to get a new rescue medication for Maura’s seizures (one the school staff is trained to use – this one will be orally administered, as opposed to her current one, which is rectally given…yeah…yikes…luckily, we’ve never needed to give that to her!)

The doctor there?  Is totally  hooking me up with stuff!  It was a “What do you need?  Here’s what we have.”  I went in expected a prescription.  I left with that, plus forms so we can get her medications for free, plus news that we could qualify for other sorts of aide, plus when I asked about an eye doctor recommendation, she said ‘Oh, we have one here, I’ll get you an appointment.”  She also said that they will be able to help us get Maura’s new foot orthotics when we need them.  Did I mention all of this will be at no cost to us?

What a novelty!

She even filled out the forms and addressed the envelope for me for the long term disability coverage!  I’m feeling all warm and fuzzy just thinking about it.

Then I get home to find a big envelope for me.  Inside is a note from the PT I haven’t met yet with a whole list of groups and activities Maura could participate in.

It’s weird – we’re finally part of a group.  The group doesn’t care what label is attached to you.  It’s a “You need help?  Well, we’re here to give it.”  And the government is willing to help us out too.  How novel.

You know, people here are always going on about how Ireland’s just a poor little country, they can’t do much to help us out, but they’ll do what they can.  I have to say – so far, they’re doing great.  The U.S. could learn a few things from the Irish.

No, not Maura’s interest – but interest in Maura.

We’ve been lucky to have some great doctor’s to work with.  Her pediatrician and her neurologist I would highly recommend to anyone.  They were great with us.  But they were only human and contained only so much knowledge – they couldn’t figure out what was going on with Maura.

We’ve meet other specialists who were nice enough, but Maura didn’t seem to spark their interest.  I will say, Maura’s old neurologist warned us about this years ago.  He said that we’d probably never know what she has because medical science isn’t interested in kids like her – aka kids who are pretty healthy, have no regression, no “big” issues.  Maura just wasn’t interesting enough to the medical world.

This week we were lucky enough to fill a cancellation at the neurologist we were hoping to see here in Dublin.  It was really good timing for us.  Friday, I called the GP (general practitioner) for the referral to the neurologist.  They sent it over that afternoon. Wednesday, they called with an appointment for the next day, asked if I wanted it.  This isn’t my first pony ride.  I know it can take months to get into a specialist’s office.  When they offer you a cancelled spot, you grab it and say thank you.

So Thursday morning, Maura and I rode the train down to City Centre, then caught a taxi to Temple Street to the private clinic.  We didn’t wait too long before Maura’s name was called.  We hopped off our chairs, grabbed our bags, followed the doctor into his (very large) office/exam room, where Maura shook his hand and said “Hi Doctor!”

The funny part with that is that I didn’t tell her he was a doctor.  She figured it out on her own.  She took in his white coat, the exam table and other surroundings and figured it out all on her own.

One of the first things the doctor said was how surprised he was with how able Maura was.  He didn’t expect her to walk into the room all on her own and say “hi” and start going through a book after reading the notes from the Cleveland Clinic that the GP sent over.

See, on paper, Maura is moderately disabled.  There’s mild, moderate and severe.  So she’s mid-range.  Not completely incapable, but not semi-independent either.  On paper, she seems somewhat incapable of learning, unable to manage on her own.  The phrase “IQ of 47-50″ will make one think that.

But Maura’s not on paper.  She’s a bright little package of flesh and blood, who is pretty darn able for all that’s going against her.  She’s socially savvy.  She’s always paid attention to what was going on around her and has learned from that.  She has always made progress – slow, but steady progress.

This doctor saw all that.  He was impressed with her, how she’s managed to learn steadily, that she could pedal a bike, dress herself.  After weeks of dealing with schools and hearing “Wow, so she’s far behind.”, his positive attitude was refreshing.  Not that the schools were depressing – just reality checks, one after another.

We sat and talked about Maura for a bit, him asking about tests and when she had her first seizure and what kinds of seizures she had.  He felt that her different “spells” were probably seizures trying to break through – like the time at school she did a head bob and full body shudder, which means Maura has more seizures than we see.  But for the most part, they don’t interfere with life, thank goodness.  He also felt her bendy fingers were really hyper flexible and asked if anyone mentioned that she had some dysmorphic features.  I said “Oh yes” and told him how one doctor said Maura had a “syndromey look” – aka, she looked like someone with a syndrome.

He ended up taking pictures of Maura with my consent, so that when he has lunch with his colleague the geneticist, he can share her case with him.  I can’t help but get a little excited about that, allow my hopes that we’ll could end this 7 year mystery and have a name for whatever causes Maura’s delays.  I know that it’s a shot in the dark, but it’s the most hopeful thing we’ve had for Maura’s medical side that’s happened in years.

He’s also recommended Maura have another EEG, check out her brain waves and all, see what’s going on in that head.  I’m all for that as well. She’s only had one in her life, after she has the first seizure.  We’ll see him again in 6 months, unless something comes up.  I’ve been told to feel free to call with any questions or concerns or if I feel Maura’s seizures have increased.

I left the office feeling secure about Maura’s care here.  We found a lovely GP for every day issues, and now we have a great neurologist.  Having left a great pair of doctors behind, I’m grateful to have found another great pair.

Also, after the disappointment that was our Cleveland Clinic visit, where I knew almost instantly that we’d find out nothing new and it was a waste of time, this is refreshing.  Doctors are finding Maura interesting!  A member of the medical community is intrigued by her case.

And in generic Maura news – she has managed to keep up progress despite me being her only teacher.  Usually Maura is not receptive to me trying to teach her things.  But I guess she’s as desperate as me, lol!  She’s learned words like “kingdom” “Julian” and “pirate” thanks to tv (“kingdom” comes from Ben and Holly’s Little Kingdom, a kiddie show, “Julian” from Penguins of Madagascar, another kiddie show, and “pirate” comes from “Pirates of the Caribbean”…yeah, not quite sure how that one happened.)  She’s discovered “Doctor Who” and is fascinated by the show now and stole my Tardis.  She calls Rapunzel “Hairbrush” and the train “crane” (close enough).  She now genuflects (kinda) at church and can tag her train pass – heck, she knows how to walk to the train if we let her.  She also is learning to wait for the green man (aka “safe to cross” signal at the lights) and is obsessed with pressing those crosswalk buttons.

It hasn’t been all sunshine and skittles, the girl had given me attitude on more than one outing, but she’s learning and settling in better and better.  Hopefully we’ll hear back about school situations and maybe even get her potty trained one of these years?  Meanwhile, the girl is still enjoying life to the fullest and getting bigger every day.

And they’re all normal.

Sort of.

Yes, all the blood work and urine tests are back from the Cleveland Clinic, and they all fell within the normal range.  Though the genetics test did state that Maura had some “small missing or extra pieces of DNA” that were “benign polymorphisms”, meaning they don’t cause her medical/neurological/physical issues.

Say what?

I’m still trying to wrap my brain around this one.  How can she have small missing or extra pieces of DNA and that not cause any issue?  Really, to me, it’s medical speak to “we have no fricken clue”.  But that’s just my “I don’t even play a doctor on tv” theory.

It’s frustrating and a bit disappointing that we took the time and effort to go there and that we have absolutely nothing to show for it except Maura’s new fear of doctors (seriously, we had to go to the pediatrician yesterday because she has an ear infection, and Maura spent the entire time nervous – and usually, she’s great about them listening to her lungs and checking her ears.)  But as a dear friend of mind reminded me, at least we can say we did this, checked this one off our list of things to do with Maura.  And she’s right.  If we hadn’t gone, I’d wonder if we should have.

So that’s that, as I predicted, all tests are normal, and we still have no answers as to what causes Maura’s issues.  Maybe one of the doctors we meet in Ireland will have a clue

Life with Maura can be a conflict of emotions.  Sometimes, I’m satisfied with who she is, and not knowing what’s causing her problems isn’t a big deal.  Other times, I really wish we did know.  A few months ago, I was in the need-to-know place, and got Maura an appointment at the Cleveland Clinic.

So tomorrow, she and I head to Cleveland on an overnight trip to see a doctor that specializes in neurogenetics and neurometabolism.  I won’t even pretend to know what exactly that means.  But we’ve tried a neurologst.  We’ve tried a geneticist.  Neither were able to diagnose her (though they are both fabulous doctors who I would glowingly recommend.)  We’re upping our game here I guess, going to a place that deals more with rare cases.

I don’t expect answers.  That’s not a negative remark, just a realistic one.  Maura’s had countless tests run, out of them all, only one came back positive for something (the EEG.)  The odds are against us for a positive test result. Then again, we may have hit the point where we’ve ruled out so much that this new doctor will be able to narrow things down even more to some rare syndrome or disorder.  It would be nice to have a name to give whatever is going on with Maura.  Saying “I don’t know” to people’s question of “What does she have?” sounds lame, even to me.  If this trip doesn’t give us results, I’ve decided to start telling people she has Sherlock’s Syndrome – aka, it’s a mystery.

Sometimes, getting what your child needs is a series of steps, contacting the right person, hunting down the correct clinic, having a certain piece of paper, doing the right sacrificial rite under the light of a full moon…

This month’s quest – new orthotics.

For those of you not in the know, by orthotics, I mean foot support.  In the past, Maura’s had full ankle braces that strapped around her foot and ankle, to hold her flexible flat feet in the right position.  They’ve been modified to fit under the ankle, then modified some more to fit just inside her shoe, no strap required.  Then we went back to the strap, which she hated, so back to no strap. 

We kind of let the orthotics slide over the summer.  By now, she’s certainly outgrown them.  It didn’t actually occur to me until I made Collin an appointment with an orthopedic surgeon (he broke his wrist) that Maura would need new orthotics.  Very soon.

Oops.

Now, I’m sure I could go back to the Great and Powerful U of M for orthotics, where we have been going for the past two years.  However, it is SUCH a pain in the tush to go there that I decided we would go elsewhere.  I’m tired of rushing out the door early in the morning to drive into Ann Arbor to spend fifteen minutes at least in the parking garage finding a spot, then hike all over the Taubman Center, then wait an indefinite amount of time to see the orthopedic doctor, who prescribes the orthotic, then hike down a hallway or three, plus an elevator, into a different section of the hospital to wait another indefinite amount of time in the orthotics department, only to have to return in a couple weeks once the orthotics are made, repeat, make follow-up appointment for six weeks from that point, rinse. 

I’m tired of jumping through those fiery hoops.  I’m going to try new ones.  Which will require finding a new orthotics place, then contacting my doctor for some sort of prescription, then going to the appointment, blah blah blah.  I’ve done it before, I can do it again – right?

But I need to do it soon.  I can’t buy Maura new gym shoes without the orthotics.  Because the orthotics skew her shoe size.  I may have to send a note to the gym teacher if we have to wait until after school starts – see, last spring, I sent her to school in her Keens (which are hybrid athletic shoe) and the gym teacher told her aide Maura couldn’t participate in gym class because she wasn’t wearing proper footwear.  Uh…really?  That teacher has since retired, hopefully the new one is more open-minded about Keens.

Maura has issues with mosquito bites.  She’s extremely sensitive or a bit allergic – however you want to call it.  The end factor is that hers swell up more than usual.

It used to be a lot worse.  When she was younger, they would get absolutely huge.  One mosquito bite on her leg could swell up to cover a third of the leg.  Once she was bit by her eye…since there’s no muscle to absorb it, her eye ended up swelling shut.  And that was with taking Benadryl.

It doesn’t help that bugs find the girl tasty.  There was the year when she was waking up with dozens of bites.  Seriously – dozens at a time.  Miriam, who slept in the same room with her, had zero bites, while Maura had these huge hivey welts with a bubble of liquid on top, like a chicken pox but not.  After a week of stripping her bedding, talking to the doctor, and crawling around her room, I discovered that the insect causing all the problems was actually called a no-see-um.  Teeny tiny mosquito creatures that some people react badly to – including Maura. At that point, she had a ridiculous amount of bits on her, over 50, possibly over 75, I can’t remember now.

Last year, Maura seemed to have finally gotten past this.  But this week, I’m thinking not so much.  Right now, she has sixteen mosquito bites on her arms and torso.  She’s been rubbing the bites on her arm since getting home from school, despite the Benadryl and lotions. 

There is a giggle in all this – she has one particularly large bite on her back…that part of your back that’s just out of reach, just at the end of her hair, so her hair keeps brushing it, irritating it, so she tries to reach for it again.  But then, she figured out a solution and has been rubbing her back across the edge of the couch.  You have to give the girl points for creative problem solving.

Maura was prescribed a nasal spray last week (to see if allergies are causing the never-ending ear infection.)  Proving she is my daughter, Maura doesn’t care for the nasal spray. 

I’ve taken to bribing her to do it at night.  With gummies.  Not just any gummies.  They’re fiber gummies!  You know, to add fiber to her diet to help her poop.  She loves these gummies, so will tolerate the nasal spray to get one.

It somehow seems wrong that her big treat is a fiber supplement.

In a previous post, I mentioned my dislike of Medco, the online pharmacy we have to go through for Maura’s seizure medications.

Once again, Medco has struck.  It amazes me how they can routinely and consistently goof things up for Maura.  Their business is providing medications.  And yet our latest thing with them is that they don’t have her medication.

That’s right – they don’t have her medication.

On Monday, we went for a regular check-up with the neurologist, who sent out a current prescription for Maura.  Medco did get it.  On Tuesday, they called the neurologist and said that they were currently unable to get the medication from the supplier, can it be filled locally?  The neurologist’s office agreed to fill it locally, called pharmacies to find it (as it’s not routinely stocked), found one, had them put it on hold for us.

Today, I go to get it.  But the pharmacy can’t release it because Medco has already put a shipping order out on the meds.  Now, how they can ship out medication they don’t have is a question that hasn’t been answered.  But the pharmacist jumped through the appropriate hoops to allow the release of the medication.  While laughing over the fact that Medco couldn’t get it. The pharmacist then advised me to fight them having the prescription, if they can’t even supply the medication in a timely fashion.

I would sincerely love to to not have to use Medco anymore.  It is nice to get a three month supply all at once.  It isn’t nice to have to find their phone number (which is not easily found on their website) and call them every few weeks to get the latest problem straightened out.  I have enough to do without dealing with them constantly. 

Meanwhile, I shall laugh at the irony of the situation.  The online pharmacy that won’t let us fill the prescription locally needed us to fill the prescription locally.  I love irony.

Sometimes, life with Maura is like a roller coaster.  This past week was one of those rides.  But I think we’re back into the smooth part of the ride again.

This is one of the not-so-fun parts of not having a diagnosis.  You don’t know what will happen next.  I know that with some diagnoses, they can’t give you a lot of information.  But with Maura, we have none.  No case studies warning us that she might develop seizures.  No other kids to let us know just how far she will progress or if she’ll develop other medical issues.  It’s a constant high and low – more highs than lows.  Highs come when she does something new or we can bump up our goals for her.  Lows are when you discover that bending her the wrong way can cause a horrible charlie horse. 

This past week has once again brought out my need to try to find a diagnosis.  We’ve basically gone through all the doctors we can go through here.  So now I’m eyeing specialists at the Cleveland Clinic, conveniently located about three hours away.  I don’t expect answers, but at least I know I’ve tried.  And who knows, maybe someday, my dream of being on “Mystery Diagnosis” will come true!

Wait – why “Mystery Diagnosis” you ask?  Because to be on that show means we finally got an answer.