Tuesday, April 23, 2013

The Diagnosis(es) is Official

I haven't blogged in a long time.  Partly because there really wasn't any new information to tell and partly because other aspects of my life were more urgent.  However, we finally have diagnoses so I think it is time to blog. 
So since the last time I blogged in November, we took Claire off milk and dairy completely after her blood work showed she was allergic, and she has stayed remarkably well.  Ryan has gained some weight and is starting to eat more.  We saw lots of doctors for checkups, the ENT, pulmologist, muscle doctor/specialist, and the geneticist.  More blood drawn, more look over, more talk with a nutritionist, more respiratory therapist chats with reminders to do chest percussion therapy (CPT) twice a day with inhalers.  The usual for us. :)
However, the geneticist offered us a relatively new test that he was using on his complex patients without a diagnosis to see if something could be found.  He had success with some of this other patients with complex unknown diseases and thought we might get some answers this way.  It is sequencing the entire genome.  All the genes in one's chrosomes.  They would take blood from Me, Jonathan, Claire and Ryan.  They would compare Claire and Ryan's to each other as well as us and see if there were similarities or differences and give us a report.  We all went to the Children's Hospital and had our blood drawn right before Christmas.  And then we waited....
And waited....and waited....while the researchers asked for more information.  And then on April 1st, I got a call from the genetics counselor saying the results were in.  And they had found some "novel genes" that seemed to correlate with and explain the children's symptoms.  What are novel genes?  New genes, as in that particular pattern of DNA has never been noted before.  And Ryan and Claire have the exact same novel gene.  As far as science knows they are the only two with it.  However, it is important to note than genome sequencing is a relatively new science and we don't have everyone in the entire world mapped yet. (I see a potential for a sci-fi movie here).  So it is quite possible it exists in someone we just don't know it.  Nevertheless, since it matches with the children's symptoms the geneticist felt he could make an accurate diagnosis. 
So the diagnosis (for the few who haven't read it on facebook): Primary Ciliary Dyskinesia (PCD) and Limb Girdle Muscular Dystrophy (LGMD).  Both rare diseases with the symptoms fitting the children.  If you want more information about either disease there are some sites that will provide information.  It is a bit too much detail to get into here.  The muscular dystrophy association website (mda.org) is an excellent resource and has a very good description of the condition.  The link to the specific page on limb girdle is: http://mda.org/disease/limb-girdle-muscular-dystrophy.
Here is a link to information on Primary Ciliary Dyskinesia http://www.nhlbi.nih.gov/health/health-topics/topics/pcd/ which is a short overview.
The National Institute of Health and particularly their Rare Diseases webpage are excellent resources if you are interested in learning more information.  You are welcome to ask me.  I am usually up for talking about it.  Depends on if I have just worked a night shift or how many times I have been asked that day or recently.  But I find it is good to educate people so maybe the information is correct instead of heresay and rumors.  :)
What does this mean for Claire and Ryan?  Not much is different for them in the immediate future.  They now qualify for electronic CPT vests so no more banging on their back and front (when I found the time, which wasn't often enough).  We will watch them closely when they get sick.  We will mostly likely do a trial for Claire without her daily preventative antibiotic and see if she can stay well/sinuses clear.  Most people with PCD live a normal lifespan.  But no one can say for sure what their future holds in regards to the PCD.  We will continue to see a pulmonologist twice a year and do what we can to keep their lungs and sinuses clear from mucus.
LGMD is a progressive disease.  However, there are about 16 different subtypes of the disease so each one is a bit different and often even amongst the subtypes different people have different symptoms and courses.  It is possible Claire and Ryan won't need a wheelchair until 50 or 60.  They may live a normal lifespan.  They won't be athletes and they will continue to struggle with endurance issues (the PCD doesn't help that).  They will never get stronger, they can gain some strength by staying in therapy and exercising but the muscle weakness won't ever go away.  With this disease it is very much a watch and wait.  We will run tests to ensure we catch anything early, but their day to day life won't change much.  We celebrate milestones, we enjoy doing many things other kids do.  And I remember to enjoy each day, every day I have with them.  I may not know what tomorrow brings, but I know I have them for today.  So today I will love and cherish that.

1 comment:

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