Appeal type: Medical necessity
Decision: Overturned

Diagnosis: Mitochondrial Disease/Pax 2 Mutation
Treatment: Skilled nursing
The health plan denied the requested skilled nursing hours. . The health plan's determination is overturned.

The patient is a female with PAX 2 (autosomal dominant genetic mutation) and mitochondrial disorder. The patient has chronic refractory seizures and was treated with seizure focus surgery. She has multiple neurodevelopmental issues. She has a G tube (gastrostomy) for nutrition . She has also been ventilator dependent at times. She has protein S deficiency and has had superior venacava syndrome. The patient also had chronic renal failure and needed a kidney transplant for which she is on multiple immunosuppressants. The patient  is also on daily Albuterol treatment and pulmonary toilet regularly. She is dependent on oxygen to maintain her saturations. She was recently hospitalized for fevers and dehydration.
At issue is the medical necessity of the requested at-home skilled nursing care.

The health plan's determination of medical necessity is overturned, in whole.

Yes. The patient is a medically complex patient with multiple system involvement. She has been ventilator dependent at times and is gastrostomy tube dependent. She needs airway clearance daily. Furthermore, there is history of a cardiac arrest. She also has seizures which could be refractory. She has had a recent hospitalization for dehydration. Even a trivial episode of dehydration can pose danger by putting this patient at high risk for kidney failure and that too, considering a renal transplant can portend a worse outcome. Seizures should be managed at the earliest symptoms otherwise could progress to status epilepticus. Skilled nursing for 24 x 7 hours will avoid hospitalization and will prolong her life. At a later stage we could wean to 12 hours per day when all the specialists will agree to wean the hours.
The patient may not be on a tracheostomy dependent ventilator currently, however this patient was needing frequent intubations for trivial systemic illnesses such as dehydration and upper respiratory illness. One of the commonest causes of cardiac arrest in pediatrics is respiratory distress. And this relationship of cardiopulmonary interactions is multiplied manifold in mitochondrial disorders. 
Mitochondrial disorders are one of the dreaded diseases with multisystem involvement. Its natural course portends a progressive regressional pathway. Most of the affected children will have irreversible significant morbidity and mortality at young age. In a systematic review, the authors examined the reported deaths and age of death was < 1 year in 13% of disorders, < 5 years in 57% and < 10 years in 74%. Disorders with high mortality rates were generally associated with earlier deaths. In another study it was shown that mitochondrial cardiac involvement was a poor prognostic factor; patients with cardiac involvement  had an 18% survival rate at 16 years of age. Recurrence of cardiac conduction and deadly arrhythmias is a possibility and hence one needs to avoid the triggers such as respiratory distress and pulmonary exacerbations. In this patient, the prognosis is extremely poor, and the cardiac arrest was a harbinger of the poor prognosis that can be expected in this child.