Congenital Myopathy

I learned today that I have congenital myopathy.  I have told a few friends, and a few family members.  I passed this on to two of my children.  My husband also has a genetic disease, on the same gene, that he passed to our children.  They have two unrelated conditions; the shared, combined condition from their parents, and an unaffected sibling.

I begin this journey myself with adult neuromuscular specialists as a new patient.  I'll be joining the MDA.  I'll be beginning a new phase in my life: the phase of knowing what has always been different about my body.

A Visit To The ER With a Neuromuscular Patient

Visiting the ER with any child is stressful.  Visiting the ER with a neuromuscular patient is unnerving.  I drove past three hospitals to get to one that could cope with my son.  I knew that most hospitals could not manage his care.  However, I also took the bold move to drive past two specialty pediatric hospitals.  Before, when we had only a trisomy diagnosis, I would not have made that call.  I am rather fond of one of the ones I drove past about half way into my drive.  This was my son's first lung related event, and I didn't want to take chances.  If he needed admission, then the pulmonologist who specializes in the neuromuscular children is only at one hospital.  Even if we didn't, sitting in the ER would induce anxiety in me.  Could they manage him?  Did they even understand the risks of their routine treatment in neuromuscular patients?  It isn't the disease itself that is so scary.  It is the unusual reactions to routine ER procedures for neuromuscular patients.  Things they do all day and are comfortable with are the very things we have to avoid.  Those rare once-in-a-career reactions that a particular nurse or doctor might see are the very things we expect any time we go.

I didn't have to explain to the ER doctor who our specialists were.  He called the supervising doctor over to assist.  One nurse, however, didn't immediately recognize the names of the specialists.  She mistakenly thought I was referring to the pediatrician.  Perhaps she thought my son saw the pulmonologist as an asthma patient (we were in the asthma treatment room.)  I paused to consider how easy a slip up can be - just one wrong step can result in catastrophe.

Fortunately, Melchior is going to be fine.  We made the right call with his cough and breathing complications.  He received the medicine he needed, and didn't get one contraindicated.  We now have experience for the next time, when it may not be quite so smooth or easy.

Results

The boys' specialist called me with the muscle biopsy results.  We don't have conclusive answers as to which myopathy the family has.  We know that it's not any dystrophy.  We know that it's not nemaline myopathy.  Beyond that, we have more testing to do.  Muscle changes were present to conclude a myopathy, but not distinct enough to know which one from the biopsy alone.  We may know later.

I'm much happier with the doctor after these last few months.  We had a rough first meeting.  It happens.  I've had time to do my own research, which I usually avoid.  The first rule of being a special needs parent: Don't Google It.  The second rule?  Never Read A Blog.  I feel free to laugh at my second rule now.  This blog is absolutely not informational for any specific condition.  It's about having a place for my own emotions and thoughts, so that I don't bring them into an office visit.  I break my own rules, and it's ok.  I have information that I'd rather have straight from the doctor's mouth.  That's ok, too.  We get what we need.  We do the best we can.

We will do blood tests to further the search for which specific disease this is.  We'll know one day, and we'll go forward.  We're on an amazing journey.  It's not going to be all spelled out and smooth sailing.  As a consequence, we won't be phased by other challenges in life.  That which dismays another family won't even make us blink.  We have our own song to sing.

Aged Meat

We have to wait a month for the results of the muscle biopsy.  At first, I brushed it off to the thought of so many diseases to consider.  I then deliberated that there must be such a limited number of specialists trained in the pathology of muscle diseases.  They have a backlog of patients, and no way of every getting more than a month behind in work.

And then I remembered.

Aging meat takes three to four weeks for the enzymatic processes.  There are structural changes in the muscle fibers after a month.  Previously, I only knew about this from hunters and high-end steak houses.  A small portion of my own child's leg muscle currently ages.  While this realization doesn't negate the first two thoughts I had, it does creep me out.  Not that I am squeamish - oh, no.  It's my child, not a deer or a side of beef.  Part of his muscle needed to change in this way to show the pathologist the damage or the abnormality.  I am unnerved for the seriousness of the test.  A needle biopsy would have been easier, if less appropriate for the conditions we suspect.  Not only would it have been easier physically on him, but easier on us mentally.

We will know soon enough the results of the muscle biopsy.  It is only one short month.  But, forever more I'll know that a small piece of his leg muscle was aged.  I may never eat at a high-end steak house again, even if I could one day afford it.  It would only remind me of this waiting time.

Getting Measured For A Custom Wheelchair

After a week of a loaner wheelchair, Balthazar was measured for a custom wheelchair.  We drove an hour to the orthopedic hospital for his appointment.  I had to arrange pick-up from preschool for Caspar, so we could make the appointment time.  Balthazar didn't quite understand that the chair he's had isn't permanent.  He's happy to wheel around and do tricks.  Once he gets the permanent chair, there will be no stopping him.  The current chair is slightly too big, and not quite meeting his needs.  The new chair will be his for five years.  It will adjust as he grows.  It will be his favorite color.  I still can't believe that it was this easy to get a wheelchair for him. After so long of knowing that a part-time wheelchair was for him, to finally make it happen was almost too good to be true.

We had the fitting, and measuring and an hour of questions about what his needs are.  We described our one story home, the car, the stoop at the front door, the lack of ramp, but application for one, etc.  We looked at wheel sizes and colors and clothing guards and backs and padded seats and push handles.  Now we wait for the developmental pediatrician to sign off on the application.  Then it goes to insurance for them to approve the payment of it.  Then the manufacturer makes it.  It goes back to the orthopedic hospital for the final fitting.  In four months, he should have his chair.  Thank heavens that it is this easy and seamless for us.

A Wheelchair, At Last

For the last year, I've realized that part-time wheelchair use meets Balthazar's needs.  I've asked at the last two developmental pediatrician appointments.  Each time I was told no.  Now that we know the boys have a congenital myopathy, a wheelchair is appropriate.  I didn't have to fight, or justify how we would use it.  I already knew exactly what to say, having had so many months to prepare.  It was seamless.  It was the longest developmental pediatrician appointment ever.

After the clinic appointment with the pediatrician, nurse practitioner, dietician, nurse, occupational therapist, and physical therapist, we took our referral to the social worker.  There we picked out our durable medical equipment provider, or DME.  We selected the same DME we use for other supplies.  Then we went to the mobility department in the occupational therapy room.  We made the appointment to have Balthazar fitted for his custom chair, while they found a loaner chair for him.  The day was running so long that I had to leave to pick up Caspar from parish nursery school and take Balthazar to occupational therapy.  I went back the following day (after a lovely evening with a friend and like-minded mother,) to pick up the wheelchair.

Balthazar took to it naturally.  He was steering instantly.  He could break, turn and reverse without instruction.  The only suggestion he needed was to use the metal instead of the tire for a handhold.  We gave him the chance to wheel up and down corridors.  We was able to engage others in conversation instead of falling and struggling.  His outgoing personality could shine instead of being drained by physical exertion.  We made time for a museum trip.  I had to restrain him from going to fast, but otherwise it was a delight.  He could keep up with us in the chair.  He could actually look at the art.  Instead of being frustrated and drained myself, I could experience the joy of the afternoon.  A part-time wheelchair is a long-overdue delight in our lives.

"God Only Gives Special Children To Special People"

"God only gives special children to special people."

So much of the time I feel judged in public.  I feel glared at with hostility or pity or contempt.  I'm used to condescension.  I 'm used to trying to get out a public place quickly when my son with a neurogenic bowel has experienced incontinence.  People in general rarely say nice things to me, when they don't know me.  At best, I receive, "You sure have your hands full," which many mothers of more than one hear.

I'm so happy that another family got to read that note.  If it were me, it would mean more than paying the bill.  Not that I'd mind the bill being paid.  The words - ah, that was the real bonus.  If only more special needs moms heard positive comments, it would make all those public moments so much easier.

The Muscle Biopsy

My eldest son, Balthazar, had a muscle biopsy.  I was perfectly calm until the drive down to the hospital.  At this point, we go to so many doctors and hospitals, I can't get nervous anymore days before an appointment.  Even day surgery is fairly routine.  However, we now know that no anesthesia will ever be routine again.  Congenital myopathies can come with serious, fatal consequences to anesthesia.  We did the biopsy in part to determine what the risk is.  There are many other consequences of a myopathy, but it was the anesthesia complications that really threw me.

He did just fine.  The anesthesiologist assumed that he did have malignant hyperthermia.  He underwent the clean technique for the procedure.  He came out ok, and went home at the earliest time.  By late afternoon, no one could have guessed that he'd had a high-risk surgery that morning.

Now we wait one month for the results.  It will be long and challenging.  We may or may not have a diagnosis.  This could very well be the first of a long series of tests.  None are likely to come with anesthesia, though.  We will avoid all but the most necessary anesthesia procedures until there is a cure for whichever congenital myopathy this is.

The Diapering Dilemma?

I haven't called paper diapers "disposable" diapers in years.  Now, I think the rest of America may start following me with the newly reported knowledge some mothers reuse diapers.  Paper diapers, that is.  Those of us using modern cloth diapers aren't ashamed to admit what we do.  In fact, we're advertising our cute patterns and blogging about our shopping finds.  Have we not been vocal enough about options?

I think anyone can agree that dumping out a supposedly disposable diaper and putting it back on the child is appalling.  That mothers think they have no alternative, though, is heartbreaking.  Diapers are a need.  The convenience of disposables is not.  Sadly, none of the recent articles addressing the report in Pediatrics mentions modern cloth options.  One report even showed a photograph of diaper pins.  Most cloth diapers have velco or snaps, tight fit and are easy to use.

Not one mention of hybrid diapers appeared, either.  And yet, that's clearly what those moms are yearning for when they reuse a disposable diaper.  Hybrid diapers consist of a cloth cover, with either disposable or cloth liners.  They are even widely available at Big Box chain stores, like Target.  They can be used as disposables when budget permits, but like cloth other times.

But what about the argument regarding washing diapers?  That many of the moms who are struggling financially also don't have washing machines?  I smelled a rat.  According to HUD, 84% of US homes have a washing machine, and 81% have a dryer.  If 30% of US moms are struggling to buy disposables, then about half of those do have the option of washing at home, (and that's assuming the worst from interpreting the statistics.)  Why not pressure laundromats to devote just one machine to high temp washes, as would be appropriate for cloth diapers?  Surely there are more solutions than just assuming that convenience products are the only option.

It's a shame that the mothers most in need of information about their options are the ones not getting it from their pediatricians or the media.  More mothers need to know about cloth options than just the upper middle class moms with time to consider their eco-style.  There is a diaper crisis in the US, but it's a lack of information, not a lack of access to convenience.

It's Not The "N-Word"; It's The "Of Course," Paula

As the consequence of Paula Deen's comments continue to unfold, I am compelled to offer my objections to her actions.  It isn't that she used an offensive word.  It isn't that she admitted to using it in a deposition.  It's how she admitted to using it.  "Yes, of course," comes across as a relaxed, even flippant, attitude to the word, especially in a deposition.  Instead of expressing herself in a legalistic, specific manner, "Once in 1986, to my husband in reference to a perpetrator of a crime of which I was the victim,"  the "of course," comes across as a word with which she is comfortable.  It doesn't sound like a word she used once over twenty years ago.  It sounds like she's admitting to a regular part of her vocabulary.

Alas, Paula is oblivious to what I find most cringe-worthy in her admission.  She insists that she never addressed a person directly with that word.  She seems to think that absolves her of the charge of racism.  The ugly truth is that many people suspect Southerners of bandying about racist terms behind closed doors.  From their point of view, opinions haven't changed one iota in the American South, but only the degree and venue of their expression.  They suspect Southerners of desiring to go back to antebellum days - in all their abhorrence - if only they could get away with it.  By admitting she said that word to her husband when they were alone, she's confirmed suspicions of what Southerners are really like, under their buttery surface.

Her supporters during the first week of the scandal fuel that fire.  Sadly, I have to admit a validity to their racism.  I can't defend my fellow Southerners in their behind-doors bigotry.  I have heard this attitude myself, as a Georgia native over 40.  All I can say is it's wrong.  This ends with me.  I am willing to learn; I am willing to teach my own children better.  Even though I was exposed to it, I don't have to perpetuate it.

Here's the rub, Paula: it's not about how one looks or one's intentions. As she is all too painfully discovering now, the road to hell is paved with good intentions.  We're not going to get past racism by pretending all the hard work was already done decades ago.  It's not enough to say as long as we are sweet and smiling then we don't have to look at the unintended consequences of our actions.

Conservative vs. Republican

In the last few years, I've heard many people presume that the U. S. Republican party is where "conservatives" belong.  Then they espouse beliefs suggesting they have no idea how the Republican party was founded.  A quick refresher:  the Republicans came about in the 1850's to take a stand against slavery.  Economics issues and free enterprise were not enough.  They advocated social change.  It isn't the Republicans who wanted to conserve antebellum life.  They fought a war over the unacceptability of a racist society.  While most Republicans today are conservative in many areas, it isn't valid to assume they want to conserve outdated, racist agendas.

Here lately, I've heard from individuals who seem to think that about 30 years ago the two major U.S. parties just flip-flopped.  They might suggest that some ideas filtered around.  I've been wanting to pass around Ann Coulter's books to them.  The Republicans from their inception have been the party of racial progression and integration.  A few racists may have walking into the party in the last few years, coming to a place of agreement on other social issues.  They need to open their eyes and see for themselves if that's really where they want to be.  A racist would have a challenging time being a Republican.  Consider at Senator Byrd's record.  Consider the Dixiecrats of 1948.

There are many racists who also happen to be conservatives.  I think everyone can agree on that.  However, there are also racists who are liberals, anarchists, progressives, libertarians and independents.  There are racists everywhere.  Looking at history, it wouldn't be surprising at all, however, to find a racist in 2013 in the same party that once championed President Buchanan, President Lyndon Johnson, Senator Robert Byrd and Governor George Wallace.  Merely voting for President Obama doesn't erase a lifetime of racist ideas, actions and principles.  If anything, it makes one wonder how Obama could reconcile himself with a party of such long-standing opposition to individuals such as himself.

A Stand Against Racism

As a native of the state of Georgia, I am horrified by the comments reported in the media attributed to Paula Deen.  I am embarrassed that we originate from the same place.  I am mortified that we have mutual acquaintances.  I utterly disavow any connection that one might associate between us.  I have never met her, nor do I care to, other than to reach out in Christian Charity.

Her words, under oath, are reprehensible.  I will not repeat them here; they are widespread.  I only wish to go on record that no idea, principle or sentiment of prejudice of this sort is supported here on this blog.  I cannot reconcile her opinions to anything I hold dear as a Christian.  I realize that there are many people who are Christians also share her point of view.  These ideas are not from love.  They are not kind.  If I were to have a few moments alone with her, I have a few scripture passages that I would love to discuss.

Galatians 3:28

For ye are all the children of God by faith in Christ Jesus. 27For as many of you as have been baptized into Christ have put on Christ. 28There is neither Jew nor Greek, there is neither bond nor free, there is neither male nor female: for ye are all one in Christ Jesus. 29And if ye be Christ's, then are ye Abraham's seed, and heirs according to the promise.

1 Corinthians 13

1	Though I speak with the tongues of men and of angels, and have not charity, I am become assounding brass, or a tinkling cymbal.
2	And though I have the gift of prophecy, and understand all mysteries, and all knowledge; and though I have all faith, so that I could remove mountains, Mt. 17.20 ; 21.21 · Mk. 11.23 and have not charity, I am nothing.
3	And though I bestow all my goods to feed the poor, and though I give my body to be burned, and have not charity, it profiteth me nothing.
4	¶ Charity suffereth long, and is kind; charity envieth not; charity vaunteth not itself, is not puffed up,
5	doth not behave itself unseemly, seeketh not her own, is not easily provoked, thinketh no evil;
6	rejoiceth not in iniquity, but rejoiceth in the truth;
7	beareth all things, believeth all things, hopeth all things, endureth all things.
8	¶ Charity never faileth: but whether there be prophecies, they shall fail; whether there betongues, they shall cease; whether there be knowledge, it shall vanish away.
9	For we know in part, and we prophesy in part.
10	But when that which is perfect is come, then that which is in part shall be done away.
11	When I was a child, I spake as a child, I understood as a child, I thought as a child: but when I became a man, I put away childish things.
12	For now we see through a glass, darkly, but then face to face: now I know in part; but then shall I know even as also I am known.
13	And now abideth faith, hope, charity, these three; but the greatest of these is charity.

A Great GI Appointment

We had a great gastroenterologist appointment this afternoon.  Yet another physician is aghast at the assessment of the neuromuscular specialist.  Even better, we no longer need a GI.  We still have access to her, should the needs change.  At this point, his care can be managed by the developmental pediatrician and the pediatric surgeon.  We are well trained and well informed.  My eldest was given an excellent assessment today.  His progress and hard work are evident.  Our progress as a family is apparent.  We can back off from all this oversight, just as the primary care physician recommended.  We don't have all the stress of children not growing or eating or thriving.  They are.  They will.  Whatever may arise with the actual muscle diagnosis won't stop these children from growing and changing just they way we want the to do.

Orthotics, At Long Last

After years of asking for them, I finally have a prescription for orthotics for my eldest child.  At last, he's going to get the support that he needs for his ankles.  It's been a frustrating journey, since his need is not quite under the dominion of his developmental pediatrician or his orthotist.  I will tip my hat to the neuromuscular specialist for that.  We were able to find the niche, due to her bias towards her own professionals.  We won't be going with them, of course.  They are an unnecessary travel expense and frustration.  But the company that makes them for her orthotist is the company that will provide them.  Our family physician wrote the proscription for us.  We'll go to another orthotist, and skip the wait and frustration.  The support is not that much longer in his future.  Hooray.

Paying Attention to the Children, Not Their Diagnoses

This week, we haven't had a doctor's appointment at all.  All week, we've only had therapies.  On Monday we toured a private school for the second and possibly the third child.  Instead of reviewing all the symptoms and signs of problems, we've had what for us appears to be a normal week.  Five therapy sessions might not be quiet for some, but for us, it's down three from the usual schedule.  Add in an absence of doctor's visits, and we're sailing through the week.  We've had lots of playing in mud puddles, walking through the grass in bare feet and examining seedling sprouting from the earth.  We've had time to smell honeysuckle on a nature walk.  It's wonderful.  For us, we've come much closer than we typically do to normal family life.

I've had time to look at my kids through a mother's eyes instead of a case manager's.  It's better for them, and more accurate I believe than where we've been.  I see boys who are growing up and getting stronger.  I see their spirits and their motivation.  I can see where they'll be going to school.  I know that the assessments that others have put on their medical condition is too limited for fairness.  I turn then to other points of view, including the primary care physician.  These kids are out on their own path.  They have their own song to sing.  As a family, we are a harmonic voice.  We won't be pigeon-holed by unfair limitations.  I started out that way as a first-time mother, and was derailed by too many opinions along the way.  I refuse to cower to the tyranny of low expectations.  We won't conform to the conventional approach.  We're going to walk our own path and be true to ourselves.  This means that we won't earn respect from those who only respect following the crowd.  We won't be esteemed by those who prioritize conformity.  But for use following the crowd and conforming was never really an option.  Following the crowd meant identifying their birth defects prenatally and terminating their pregnancies.  Never giving them a chance would have been the recommendation of physicians had I followed convention then.  I'm not going to be swayed by those opinions now.  Not when they don't even know what they are missing.

An Even Better Day With the Pediatric Orthopedic Surgeon

As great as the day was with the craniofacial specialist, the subsequent appointment with the pediatric orthopedic surgeon was even better.  He doesn't believe that the boys have a non-progressive or a slowly progressive condition.  He thinks they are getting better, specifically getting stronger.  He brought in residents , a med student and the boys clinic physical therapist.  I'm used to that at this point.  I know how valuable my boys are to professionals' education.  This was a bit different.  The surgeon took the opportunity to explain to them why their condition is not muscular dystrophy.  He explained the clinical presentation ruled that out.  The manner in which they exhibit the Gower sign and the muscular expression of their upper chest and scapular area are not commiserate with a dystrophy.  He then said that they will not require surgery or treatment.  He said that we have plenty of doctors on the team, and that he's going to back off because we don't need him.  He's one of the doctors that I was certain we would need.  I'm so relieved that this will be unnecessary.  We will still have access to him, if their condition changes in the future.  It's the best possible outcome of that appointment.  While they still have some disorder, it's likely not fatal.  He made a point of educating the residents on how the clinical presentation demonstrating that the boys are improving.  It's wonderful.

A Great Day at the Craniofacial Surgeon

Today my youngest son saw his craniofacial surgeon.  We have great news; he may not need treatment after all, neither surgery nor orthodontia.  I was so worried that we would have to do surgery soon, before we had more information or a diagnosis from the neuromuscular specialist.  Now we don't have to worry about those complications at all.  We don't have to worry about the risks of surgery for his unspecified condition.  I also have the support from this doctor for when we do have a diagnosis for being either aggressive or not, as appropriate to the family and the condition.  The best part is that we don't have to go back for three years, and effectively remove him from the active team.

I began the day with some anxiety as to what this assessment might mean.  I'd been concerned that following him over six months instead of a year would mean that the progression is quickly moving toward serious complications.  Instead, I'm able to end the day with a smile and time for my work.

As we move away from this medical model, it feels wonderful to do so because one of the doctors doesn't believe he's necessary right now - from a medical point of view.  He's not responding to my stress and anxiety.  It's appropriate to the child's plan of care.  He doesn't need surgery.  For that, any mother would be happy.

The First Few Days After Meeting the Neuromuscular Specialist

After I left the neuromuscular specialist, I had so many questions.  I was overwhelmed.  Since I believed that I could not ask these questions of the new doctor, I turned to the primary care physician.  His office listened to my question with due consideration, and gave an insightful answer.  He disagreed with her assessment of how the boys are doing, and trusts whatever decision I may make.  Then, I had more questions, and spent the next few days asking them of the others.  I didn't set up loaded questions.  Instead, I presented it as, "The appointment didn't go as we expected.  I didn't get to ask questions.  Here's my question for you."  Even though I asked different questions of each professional, I received the same responses from all of them.  None of them agreed with the neuromuscular specialist; all of them agreed with each other independent of each other.  My most serious concern with her was that she was not taking into account each boy's other - and primary - diagnosis.  She was considering their condition as if whichever muscular disorder they have is their primary diagnosis, and the cause of all their symptoms.  This cannot be true, and all of the other professionals agree.

I spent the first week in despair, crying off and on, convinced that my children would not grow up.  Now I know that is a possibility which we cannot rule out now.  After the fourth professional disagreeing with her, and a week to emotionally process the situation, I came to a place of acceptance - not denial nor defiance.  My children's condition is whatever it is.  It cannot be changed or cured.  Whichever disorder it is, it is serious.  However, no one will be able to tell us what it means to have these particular combinations.  No one will have seen this before.  The only one who can be confident in this scenario is me, because I am their mother and I love them.  They are not my patients.  They are my children.  It's time to shift from a medical focus, to a family focus in our plan of care.  It's time to prioritize our quality of life, over maximizing their future potential.  It's time to scale back from over twenty professionals giving their input and scheduling our appointments.  It won't be wrong to do so.  No matter if their time is short, or if their lives will be long, the children will not be short changed from living a family life in childhood.  Most children do, and my children deserve that more than others.  While a medical model is great for kids who are going to grow up, and only be independent if their families make that adjustment in childhood.  Since no one can tell us what our future holds, we need to make the decisions that will keep us together, happy and being ourselves.  Our children will do well and lead independent lives on their own terms, or they will live out whatever time they have in a loving home.

The First Visit at the Neuromuscular Specialist

Despite my plan to be open, I realize that I need to be a bit guarded.  My children are the only ones with their particular combination of diagnoses.  It would be all too easy to identify us, if someone were looking for our information online.  That noted, I shall begin.

The first visit to the doctor did not go as planned.  I had expected that a muscle biopsy would be ordered, and hoped that it might be within a week or so.  The neurologist had told me that's what to expect.  Instead, they did not order the biopsy.  She told us to see another doctor to get clearance for the biopsy and come back in three months.  If they don't give us clearance, then they won't have the biopsy.  She also told us that I cannot choose the surgeon or the facility where we have this done.

We don't have a diagnosis and may never have a diagnosis.  Without a diagnosis, she can't give us a prognosis.  If we never have one, then they look at the clinical presentation of symptoms, including the severity and the onset, to suggest survivability.  When she was examining my children, she was not accounting for their other diagnoses and how that might affect their score.  I did not have an opportunity to ask questions, and we were there for three hours.  I did not have the opportunity to volunteer information that I think may have been vital.  Instead, it was her asking all the question in a third-degree fashion.  This was unlike all other specialists we've seen, and there are 21 others.  I was surprised that it wasn't about establishing a relationship.  It felt as if we were there to serve their purposes, as if they were research subjects and not patients.  I felt like it was -such a hassle and a burden on them administratively - to have two patients who doubled their charting.  I felt no sympathy whatsoever to the fact that I have two children with different serious, disabling diagnoses who now are adding in a second, serious and potentially fatal, diagnosis.

The biopsy may give us a diagnosis, but it may not.  If not, then we might undergo genetic testing - we, meaning all of us.  There is no indication of which tests, especially since we've already done comprehensive testing at the geneticist.  Those tests did not find anything for one child, but did find my youngest son's primary diagnosis.  Therefore, we could go through months or years of testing without a conclusion.

That's enough for this post.  The subsequent days were an emotion turmoil.  I could not post during this time.  I needed to process emotionally the experience.  Plus, I had important questions that I had to ask of other physicians.  After a week, I was able to come to a place of calm acceptance.  I'll post more on how I got there.  The situation is good, now even though the diagnostic situation has changed.  The other physicians on the team are involved with their own opinions, and I'll post more on that.  It's been a two week journey, that I'm compelled to share.

Seeing the Value of a Running Narrative

At yet another meeting of a new professional for my eldest son, I was asked about his medical story from birth.  I tell this story again and again.  There is so much; it is so valuable to so many.  I can see that having our story in one location for them to read would save me so much time.  I could update it as we go.  While this is more for me and an anonymous form, I do need for us a way not to take up so much time each time we add in a new professional.  I don't know how we will begin this, whether it could be a caring bridge site or something similar.  Somewhere that I could give specific details, and would be password protected or even more secure would be an improvement.  Our story is only going to get longer and more involved.  At this point, the specialists may expand to beyond our local circle and become regional, national or international.  Going over it again and again is emotionally draining and mentally stressful.  It would be good to get it down once and pass out a way to access the information.  Then, I could post here my story in a different perspective for a different audience.  Not exactly repeating myself, but revisiting my story from different needs of my own.

I'll have to think on how to accomplish this.  When I would have time to write this way is anybody's guess.  If it helps, then I'll figure it out.

An Unwelcome Break From Therapy

Yesterday, I was disheartened to discover that the boys have to wait even longer to resume therapy.  We were supposed to attend to administrative details - outpatient evaluations - prior to discharge, or immediately at discharge.  Instead, we waited for two weeks.  When we finally walked in the door of the outpatient facility, I discovered that we'll be waiting much longer, because we didn't set these evaluations up weeks ago.  This isn't anything I've done wrong; the hospital was to have secured this before we left.  Then, we were to not miss but a week between therapy sessions.  As it stands, the boys will have evaluations over the course of the next week, then resume therapy sometime after that.  I'm not happy; they don't need to miss any time.  Certainly, from the intense level they required at the inpatient level of care to then wait for outpatient care is not in their best interest. Melchior's other therapist happens to be on vacation now as well. I've been happy to have a break initially to get settled into the new routine, but enough is enough.  Now, I'm frustrated with them not getting their needs met and it's out of my hands.  I can't do anything about this.  Yet another set back that we face due to institutional procedures.

A Confirmation of Serious Concern

At the primary care physician, I received confirmation that my assessment of the seriousness of the boys' muscle disorder is correct.  While we wait for the muscle biopsy, I know that this cannot be minor.  We went in for a routine check now that the boys have been discharged from intensive feeding therapy.  I took the opportunity to relay my understanding of the neurologist's explanation of what we may be facing.  He confirmed, indeed, that the Gower sign at age six does not portend well.  We are seeing symptomatic boys now, and won't be facing a condition that presents itself at adulthood.  The prognosis is not likely to be minor.  Whatever the specific disease, we will have to face the implications before they grow to adulthood - if they grow to adulthood.

Oddly, I'm serene about the implications.  I'm not in denial.  I passed that two months ago.  Now, I have a sense that I've always known, but didn't get this feed back from any of the doctors until we met the neurologist.  I can see myself in ten years facing a radically different life than now.  All the challenges now may seem so easy.  It's been difficult now.  It's been exhausting.  I may not have the strength to keep the boys in the home during the worst of it.  I never thought before this year that I could have entertained such ideas.  I would have railed against it with my dying breath two years ago.  Now, my untethered thoughts lead me right there.

Not every family can hang together during the worst of times.  It's not a failure.  It's not a mistake.  There's nothing wrong.  In fact, it can be so very right to allow one's children to get their needs met, even if that means placing the children into hospice care in an institutional setting.  I used to think such families were heartless.  Now my untethering of my mind allows for more love than I used to think possible.

Life doesn't always have adhere to conventional appearances.  Sometimes, what looks like everyone else is desperately wrong.  Sometimes looking wrong is doing the right thing.  Loving well - loving deeply - usually means looking beyond convention to the people behind the structure.  Looking at the people who have to live under the rules can reveal that the rules don't serve the people.

I love my children and want another story for their lives.  I want to hear that I've been on an emotional journey during the first quarter of 2013.  I am prepared that this may not be the case.

Surfing for Trouble

Today, just when I really needed to be cleaning the kitchen, I found myself inexplicably drawn to trouble.  I did a Google search for information on muscular disorders.  I know better than to search even with a specific diagnosis.  Trying to search for vague information on medical conditions is insanity.  If not misleading, it is at least emotionally foolish.  Even though I know better, I can't make myself stop.  Why not?  The delay in meeting the specialists is largely to blame.  As brutal as the muscle biopsy and specific diagnosis will be, it will be better than my mind racing all over the place.

I know on one hand that it must be dire.  They are presenting clinically with the Gower sign at ages two and six.  They have several other symptoms, including ataxia, hypotonia for one, mixed hypotonia/hypertonia for the other, keratosis pilaris, vaulted palates and more.  They've both been symptomatic since birth.  Some things, like ataxia, have presented in the toddler window of development.  The clinical presentation alone rules out the higher functioning, better prognosis diagnostic potential.

One the other hand, they definitely do NOT have muscular dystrophy.  We do have normal blood work and and an EMG that rules out the entire catagory of neuromuscular disorders.  That leaves one of several dozen diagnoses.  With their higher than average intellegence and normal behavior, we can then rule out some other possibilities.  Is it any wonder that a mother might succumb to the temptation to walk into the specialists' office prepared?  The wait to get two patients in on the same day is too much to bear in the age of ready access to information.  I know that I should just wait to hear specific information for my own children.  I know that it will be better for us as a family to concentrate on happy family life.  I know.  Yet, I'm only human, and I fall to temptation as any mother would.

Untethered Blogging

So here we go: Being frank in this semi-anonymous form.  What our life looks like this week and where we are:

Yesterday, I took my youngest son to the neurologist.  I was slightly surprised to see a resident instead the doctor come in and take the recent history.  He did assure me that the neurologist would come in later, so I didn't think much of it.  Then, when the doctor did come in, he entered with a team of residents, including the first one.  The looks on their faces - excitement, anticipation, oh-boy-we-get-to-see-this-in-residency - I have seen this before.  I didn't pay them too much attention.  I know how it goes.  While I was almost in panic mode when I first saw those looks with my eleven week old first child, I'm old hat now.  I know that's part of why I'm in this position.  My children are a gift to the world, including the medical world.  It's an opportunity to learn and grow, and all they have to do is to walk around.  Well, and get up and down off the floor demonstrating the Gower Sign.  They got to see two brothers, one six and one two, presenting different stages of the same muscle disorder.  They got to see a calm, educated, assured mother.  Then, they got to hear the same mother discussing the younger child's unrelated trisomy which also presents with epilepsy.  They saw an appointment with initiating the formal diagnosis, and appropriate questions from the parent.  Ordering the EEG, and sending me off to the neuromuscular specialist - two fairly normal occurrences for future neurologist, but with a singularity!  This is a once-in-a-career opportunity for the young doctors and they get it in residency.  The neurologist himself knows how incredibly lucky he is to treat a rare - usually unsurvivable - trisomy paired with another rare, genetic muscle disorder.  So, I know the score.  Calm, cool, collected and professional are the way to play it.  I have a professional role here, too: professional mom, who is a burgeoning professional writer.  My job is to observe, remember, learn - and pass it on to you.

Encouragement

This week, I was encouraged to start a blog about the adventures of my children's medical experiences.  Ha!  Well, I've been too busy caring for them to pursue this blog as I had intended, but perhaps that was a mistake.  Now, it's time to untether my mind and return to having a place to put all my frustration.  Now is the time to get this all out.  I also want to write a more comprehensive account of what we've been through, more than would be appropriate for a blog.  Blogging may be the brainstorming, and daily working through.  The rounding out, the full details - I'll keep for another format.  In the end, I'll post a link to whatever that may be.

Plus, this gives me a forum to include all my thoughts that wouldn't fit with the narrative.  It would be too scattered and confusing.  Blogging gets to be as scattered as I can make it!  It don't have to fret if it doesn't flow smoothing or desperately suffers from a lack of editing.  So, there's room for both.

Slow Life

Today I'm reveling in my embrace of the Slow Life movement.  I have always been here, but without a cohesion as to my philosophy.  Food, clothing, parenting - all of these things seemed somehow connected, but without a term or general direction.  I'm not good with labels.  And yet, this one does pull so many things together for me.  I'm not into organics for reasons others are.  I don't cloth diaper because I'm a "hippie."  I don't wear clothes from ten years ago because I don't like them or don't care.  I don't have natural cleaning products just to save the world.  My readings of John Gatto and the like aren't just to be different and get attention.  Indeed, Being Slow strikes me as the most natural way to live.  Why would it get any attention?  I see everything I do and think and say can been seen through a Slow Life prism.  I'm not lazy.  Ha!  I'm not unproductive.  I don't value the faster, more disposable, more-more-more lifestyle.  This way didn't fit when I saw some of my behaviors and ideas as some thing people on the left would do.  My reasoning certainly doesn't fit with the things that I share with those on the right.  Go ahead, leave me behind.  I'm happy being behind.  I'm not even so much old-fashioned on the things that might appear old-fashioned.  I'm slow.

Bartleby

The Bartleby Project

I would prefer not to take your tests.

I would prefer not to think someone's else thoughts.

I would prefer to learn and to teach my own curriculum.

I would prefer to sculpt my own life.

I would prefer to grow and discover and dream and think and feel as a human and not as a human resource.

Inpatient

My son has been admitted inpatient for a month.  Driving back and forth from the hospital gave me time to reflect on this blog.  I've been hesitant to share much of my Untethered Adventures recently, waiting for something of substance.  I think I may have been remiss.  I suspect that this blog can do me some good to have a place to put all the things we experience.  While this is a public forum, I pause about how much I want public.  Even so, I think there is a place for anonymous information.  I do want the whole world to know some aspects of what life is like for us.

I do want to share some of my more radical thoughts, that I have to withhold from the medical team.  I don't agree with the institutional model of thought so predominant in medicine.  I am not revealing anything in particular with this post, but rather reflecting on the direction of this blog.  We'll see where I go from here.