Wednesday, March 19, 2014

Tuesday, February 25, 2014

Monday, February 17, 2014

In Mere Months

Our son will be 18 years old.  He will have made it two years longer than the cardiologist in North Carolina had thought he would.  It is amazing how things are.  Yes neither of us like the Friedreich's Ataxia but we are managing.  Does it get frustrating?  Hell yes it does.  It makes me angry that our son has been handed such a burden to carry throughout his life.  I find myself imagining what he would be like if he was not affected by FA.  He's handsome so no doubt he would be in a relationship with some girl.  This is his junior year of high school and he would be deciding on a college.  Or driving us crazy saying he was going to go find himself before deciding on a college .He does his best to keep up academically though sometimes he grows frustrated.  We tried to detour him from taking chemistry because we thought it would be too tough of a subject.  It should not surprise me that he is passing the class with flying colors.  I am going to invite Rikki to be an author of the the blog .... Would be great to have us both inputting on it.

Wednesday, January 22, 2014

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!!!!

Monday, January 13, 2014

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.  

Saturday, January 4, 2014

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.