Wednesday, May 9, 2012

The News...Not all of it....

The title is somewhat misleading...I will give out all the information I have.  I just don't have all the results yet.  No one does...well I guess whoever is reading the muscle biopsy might but not anyone here in Little Rock connected to Ryan's case.  So here goes...please bare with me...this is complex and somewhat difficult to explain, especially via writing.  I will do my best.
Ryan had three different tests run when he went under anethesia on the 24th of April.  One was looking through his digestive track and taking biopsies.  This time no cells were found that indicate allergies.  There was irritation but the doctor feels that was secondary to Ryan's feeding tube.  He is of the opinion that Ryan will eat one day, and we just need to continue what we are doing.  A few of my doctor's here along with myself are not very comfortable with his care or the approach taken by the GI doctor.  So we will go to Children's Hospital in Dallas for a second opinion.  We are seeing a highly regarded and recommended doctor at Children's.  We are hoping he may have some different ideas and beliefs.  It is thought the presence of these allergic cells is in no way related to any other condition Ryan may have.  Nor is the growth and development doctor convinced allergies explain why he doesn't eat.  We have removed certain foods and we got rid of the cells, yet he still doesn't eat.  So....trying to get him to eat is a long road with many bumps....he is growing because of his tube feeds.  Yet he still does not eat food.  Depending on the doctor we are seeing, this is conerning or nothing to worry about.  We continue to work on motivating Ryan to eat....
The other two tests were biopsies.  One was a muscle biopsy taken from his thigh.  This was sent off to be evaluated to hopefully definitely determine what type of disease or syndrome the children have.  We still away those results.  Hopefully they will be back by the end of the month but it could be another month yet.
The third test was added on at the last minute by our ENT.  Yes, Ryan had three different specialists/surgeons doing procedures on him.  Still not sure how that was coordinated so all of the three very busy people could work on him while he was under a relatively short time.  This test was looking at the cilia in his nose.  It was to determine if these functioned correctly or if they had a dyskinesia (moved incorrectly) so they didn't clear mucus and that is why the kids get and stay sick so frequently.  They rarely can clear out cold symptoms....they linger until they become sinus infections or ear infections or bronchitis, you name it they get it.  This was to be a yes or no question: they have ciliary dyskinesia or they don't.  And there really isn't a treatment, you just get to know you have it and have it explain why you are sick.  Well, the results came back with a five line description that was mostly greek to all of the doctors but the ENT and even he is stumped because the description includes the phrase "seen in one other case".  I asked innocently, "oh one other case here at Arkansas Children's"...to which the reply was "oh no, in all of the literature".  Great....one other person...really.  The ever patient growth and development doctor spent nearly 30-40 minutes explaining and answering questions.  These results from the ciliary biopsy indicate there is a problem at the cellular level in Ryan.  It is probably a myotonic and/or microtubular muscle disease.  It may not have a name.  Seeing as the cilia is so rare it is possible the muscle disease doesn't yet have a name, just a description.  She explained that the cilia of the other people who have whatever muscle syndrome my children have probably have the same types of problems it is just that they have not had their cilia tested to know. 
What does this all mean you ask.  I mean, science is great but most of that paragraph doesn't say anything about what it means to Ryan's life, or the family or anything like that.  As I mentioned in earlier post, all signs point that Ryan and Claire have the same muscle disease syndrome.  So, Ryan and Claire are now a "package deal", two for one if you will.  Both Ryan and Claire will now be seen in muscle clinic.  This is a multidisciplinary clinic with doctors specializing in muscle disease as well as a geneticist and various therapists.  This clinic will direct all of their care and send them to other specialists as necessary.  This is also where Claire will be tested to confirm she has what Ryan has.  They are waiting to see more specifics to determine how to best test claire...quick blood test or a muscle biopsy is needed.  It is likely we will all undergo genetic testing to see where the genes "came from".  Claire and Ryan will continue to have their therapies as they do now.  They will just be evaluated at muscle clinic and now will qualify for therapy much more easily (if they cannot do one age appropriate activity, they will be in therapy). 
One concern that came out of the cilia biopsy is lung function.  So they will now be seeing a , pulmonologist, possibly only yearly, who will monitor their lung function to ensure it is where it should be.  Cilia are all part of the lungs and airway so malfunctioning and/or incorrectly developed cilia could effect their breathing.
This should not be a progressive disease, meaning their health should not decline.  What it does mean is that their muscle will never reach normal strength.  What that means for their life?  Well, time will tell.  For now, Claire's weaknesses seem to be in her gross motor skills as well as the weakness in her lower jaw having a large effect on her speech and articulation.  Therapies will be essential to keep them from plateauing and continuing to gain skills.  We may always have to watch how much they do, as their endurance will not match other children their age.  It is possibly we will have to limit activity at times depending on whether the muscle disease they have effects the ability of the muscle to repair itself correctly.
It is thought the muscle disorder could explain why Ryan does not eat as his swallowing muscles may not be strong or developed enough so eating hurts and he avoids it. 
Only time will tell what the future holds for Ryan and Claire.  We will do our best to work with them and follow through with the doctor's suggestions.  While we know some, there are still many, many questions.  Many without answers.  That is hard for me.
I will admit I am tired.  It is tiring to spend so much time with two kids in doctor's offices or in surgery suites.  To hear doctor's disagree and/or not be able to tell you answers or what to do.  But I the children are happy.  Claire took part in her dance recital.  I saw her walk across the floor on her tip toes for the first time during parent observation day at her dance class.  I have watched her grow and adore her therapists.  They are her friends.  The joy she had with her recital costume on.  This are the images I hold on to as I fight back tears watching her struggle to climb up or keep up or run, jump and hop...as the other kids leave her behind.  As I patiently listen as she desperately tries to get out the words she wants to say.  And knowing how frustrated she is starting to get that people don't listen and interrupt her.  As I watch Ryan trip after five steps and fall down face forward, as he throws his food and refuses to eat anything at all. 
But we will not only survive we will do our best to thrive.  Appreciate what we have and create a "new normal" all our own.  Thanks for reading this!  For keeping up and caring!  I appreciate all the kindness, support and friendship shown to me!!!  And I will update the blog as soon as we have details from the muscle biopsy itself.  Not that it will change the plan much.  Just have another bit of words....big words that make very little sense but can change "our normal" in the blink of an eye.

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