Totally Different

I found myself having to contact Kody's school and nudge them.  Did I mention ever how I loathe having to do that with the school system?  Anywho,  I emailed them to ask what was going on with his classes because I had not heard from them nor had he when he was emailing about difficulties.  The response was a little bothersome.  They message me back a few days later to ask that the doctor send a form about his necessity for home based classes AND asked that he finish his classes ASAP so he can begin new ones.  Ugh considering they hadn't responded when he was emailing them around Christmas break .... He would have already been finished.  He actually asked me if he could just quit because it was a pain to keep having difficulties.  He has expressed the desire to return to a regular classroom and actually attend school.  It breaks my heart  to have to talk to him about it.  We both loathe the FRDA!!!!

Totally Different

I found myself having to contact Kody's school and nudge them.  Did I mention ever how I loathe having to do that with the school system?  Anywho,  I emailed them to ask what was going on with his classes because I had not heard from them nor had he when he was emailing about difficulties.  The response was a little bothersome.  They message me back a few days later to ask that the doctor send a form about his necessity for home based classes AND asked that he finish his classes ASAP so he can begin new ones.  Ugh considering they hadn't responded when he was emailing them around Christmas break .... He would have already been finished.  He actually asked me if he could just quit because it was a pain to keep having difficulties.  He has expressed the desire to return to a regular classroom and actually attend school.  It breaks my heart  to have to talk to him about it.  We both loathe the FRDA!!!!

After work today I have to get in contact with Kody's teachers.  These ones are not really doing things the way we are used to and that is not a good thing.  Especially since he has been keeping up with his classes without us having to bug him.  

Updated Cardiology Notes From 12/23/2013

To the parents of Kody:

This letter will summarize Kody's most recent visit to our clinic.

Chief Complaint: Friedreich's Ataxia and hypertrophic cardiomyopathy

Pertinent Clinical History: Kody is a 17 year old male who is seen for routine 3 month follow up.  He was last seen by Dr. Sallee in August and referred to the HCM clinic for further assessment.  He has a history of hypertropic cardiomyopathy secondary to Friedreich's Ataxia which was diagnosed at the age of 7 years while the family was living in Michigan.  He is not currently on any cardiac medications,  having failed even low-doze atenolol due to low BP (50's/30's) with recurrent syncopy.  He was also tried on the investigational medication Idebenone as part of a research trail but had to stop it due to an "allergic reaction."  He occasionally has taken Lasix PRN when he has leg edema,  but he is not on any standing lasix dose due to concerns over his dynamic left ventricular outflow tract obstruction being worsened by hypovolemia.  When he was last seen by his cardiologist in Florida in February 2013, a 24-hour Holter monitor was placed, the results which are not available for my viewing.  His mother was told it revealed "arrhythmic moments" and was as expected given his condition.  His cardiac records have been requested, and his mother will be scheduling him to be seen by neurology (MDA clinic), orthopedic, and pulmonary medicine locally.  The family is trying to find a local primary care - family practice.  He denies any palpatations, but parents have notices he becomes short of breath at times when talking.  Mom has also noted his feet turn purple or blue.  This usually improves when his feet are elevated and warmed.  He also has significant scoliosis and restrictive lung disease and is wheelchair bound.

Kody has a past medical history of Scoliosis; Hypertrophic Cardiomyopathy; Friedreich's Ataxia; and Lymphangioma.  He has a past surgical history that includes a biopsy.  The family history was updated and is documented in the medical record.

A 10 system review was performed and is documented in the medical record.

Medications: No current outpatient prescriptions on file.

Pertinent physical findings: 

Pulse 84 ; Resp 24 ; BP RUE 98/78 mmHg (sm adult BP cuff while sitting) ; BP LLE ; Wt (UTO. pt. WCB); Ht (UTO. pt. WCB); BMI; BSA; Pulse ox: 95% (L thumb) ; Oxygen mode : room air

Constitutional: no distress, wheelchair bound with profound muscle weakness and difficulty speaking, cachectic and small for age

Head: normocephalic, atraumatic

Eyes: normal sclera, conjunctiva, and lids

ENT: inspection of nares, gums, oral mucosa, and external ears appear normal

Neck: mobile with weak muscle tone

Chest and lungs: clear to auscultation and fair air exchange without wheezes with asymmetric chest shape and severe scoliosis

Cardiac: normally active precordium, regular rhythm, normal S1, physiologically split S2, no murmurs, clicks, brisk capillary refill, no jugular venous distention and no clubbing, cyanosis, or edema

Abdomen: no masses, no hepatomegaly, no splenomegaly and soft and nontender / active bowl sounds

Musculoskeletal: severely decreased muscle strength diffusely; severe scoliosis

Extremities: decreased muscle tone in extremities

Skin: clear, no rashes or lesions

Neurological: cooperative, able to speak a few words at a time without becoming out of breath

Laboratory:

ECG: due to his known HCM, a 12 lead electrocardiogram was performed in order to assist with the evaluation of his rhythm and ventricular forces.  This was obtained and demonstrated: normal sinus rhythm @ 92bpm with a normal corrected QTc interval of 400 msec.  There was inferolateral T-wave inversion as previously reported with ST segmented elevation in leads V1-V3 as previously seen.

Echocardiogram: 

Not repeated today.  Echo in August revealed severe concentric left ventricular hypertrophy with a IVSd of ~18-19 mm and a LVPWd of 14 mm.  There was near LV cavity obliteration in systole with systolic anterior motion of the mitral valve resulting in a very mild mitral valve regurgitation.  There was no effusion and no evidence of cor pulmonale.  There was good biventricular systolic function but evidence of significant left ventricular diastolic dysfunction based on tissue Doppler image.  Stable from prior echos in FL.

Impressions:

1) Friedreich's Ataxia

2) Severe hypertrophic cardiomyopathy without significant resting LVOT obstruction.

3) Systolic anterior motion of the mitral valve (SAM) with very mild mitral valve regurgitation.

4) No pericardial effusion.

5) Marked left ventricular diastolic dysfunction with "normal" systolic function in the setting of marked left hypertrophy.

Discussion:

At the present time given Kody's stable clinical status, I have not recommended any cardiac medications since he was intolerant of beta blockers and idebenone.  I did review the importance of keeping him well hydrated as hypovolemia could potentiallyresult in increased dynamic left ventricular outflow tract obstruction.  I would also suggest that the family establish care with a local primary care physician as well as a pediatric neurologist, pulmonologist, and orthopedic surgeon.  His mother is in agreement with this plan.  Overall, it would seem that his prognosis is poor given the severity of his heart disease and underlying diagnosis and the family would like to establish an advance directive.  We will provide the family with the appropriate forms.  We will plan to see him back in 6 months unless there are concerns in the meantime.

Zach Sobiech: Finding peace through music | Children's Cancer Research Fund

Pretty amazing story about a young man who left his mark on the world before he left it.

Zach Sobiech: Finding peace through music | Children's Cancer Research Fund

On the 23rd of this month Kody had another Cardiologist appointment.  This time he met with the HCM/Arrhythmia specialist at Scottish Rites of CHOA.  I liked the doctor and so did Kody.  We discussed his heart condition and he agrees with us about remaining medication free.  This puts me at ease because there are some doctors that would push for medications even if the cons are worse than the possible pros.  I will add the doctor's notes once they have arrived.  He is also putting us in touch with the social worker about his DNR being in place here in GA.  Kody and I have spoke about things and he does not think living on a machine, considering the path chosen by the FRDA, is something he would want to do.  I respect his opinions and decisions on that.

Christmas went well.  He is pictured here playing one of the few games he got, with his new controller.  He also likes to play some of the games with Rikki.  They giggle and argue about who is kicking who's butt.  It is kind of funny to listen to.

Things with the move have taken time.  I have to call to make an appointment to establish him with the local chapter of the MDA.  It has been a busy last few months for sure.  We have switched out his seat for his manual with the seat from his electric chair to give him a better level of comfort.  He has been having episodes of his legs being cyanotic (blue in color) and we are going to address this with his cardiologist on the 23rd.  He does not complain about much of anything and is a pretty easy to please kind of guy.  Things with his schooling are going well and he loves when he gets to be exempt from assignments that he really did not want to do.  You see, he does not like doing essays because he finds them boring.  I think he just has not quite figured out how to BS his way through one.  He is the type of kid that likes things straight to the point without all the unnecessary wording.  I was able to find a good deal on some sweat pants for him from JcPenny's that fit him well and are easy to get on and off for bathroom trips.  He prefers to remain as independent with his bathroom needs as possible though he does need some assistance with redressing after the fact.  But he has managed to get past being embarrassed about such things with me.  Though he does not ask his dad for help which I find interesting.  You would think it would be easier to have dad help with that stuff but not with him.

 

We were able to get a controller to help him out with his PS3.  This stops him from being bored all the time.  Or at least that is what he says.