Letter Of Medical Necessity

Eliana has and uses the following medical equipment:  the Vest; a Cough Assist machine; a suction machine; standard and portable nebulizers; a kangaroo tube feeding pump; standard and portable pulsoximeters; an oxygen concentrator; and oxygen canisters.

On 11/16/03, at 12 ? months, she was admitted to the Egleston Intensive Care Unit until 11/20/2003, with a diagnosis of Status Asthmaticus.  She required oxygen, intravenous steroids, and racemic epinephrine to stabilize her.  She was readmitted to Egelston Hospital 9 days later (ER 11/29/03, inpatient 11/30/03-12/10/03) with similar symptoms.  At that time, a work-up of her hypotonia was initiated; her primary work-up was genetic.  On 12/3/03, she had a swallow study in which she aspirated thin and thick liquids; an NG tube was placed and tube feedings were started that day.  Also on 12/3/03, an abdominal ultrasound confirmed she had a slightly enlarged liver.  On 12/4/03, an ophthalmologic exam revealed a cherry red spot, which is diagnostic of a lysosomal storage disease.  On 12/5/03, enzyme studies confirmed a diagnosis of Tay-Sachs disease.  On 12/5/03, a brain MRI with SPECT showed mild cerebellar and cortical atrophy.  On 12/8/03, a barium swallow showed normal GI anatomy.  On 12/9/03, a gastrostomy tube was placed.  On 12/10/03, she was discharged home with a new feeding pump and suctioning equipment.

Her constipation was treated with a change to an elemental formula (Peptamen Jr) and the start of Miralax laxative.  Reglan was started to enhance motility.  Her family is considered a fundoplication surgery to prevent reflux, but opted against it.  

Eliana had reactive airway episodes (possibly aspiration pneumonia) every 4-6 weeks from 12-30 months of age, typically requiring a short course of prednisone, an increase in frequency of nebulizer treatments up to every 1-2 hours, frequent nasopharyngeal and oral suctioning throughout the day and night, and frequent chest physical therapy.  She also required antibiotics (Amoxicillin) a number of times.  Reglan and Miralax doses were increased to help improve gastric motility and decrease reflux.  Her tube feeds were slowed down from 180 cc/hour to 100 cc/hour.  Nebulized Pulmicort was increased to twice a day. Because of her aggressive medical care at home, she did not require inpatient hospitalization for 11 months, despite her frequent episodes of respiratory decline.  

Eliana started having myoclonic seizures in March 2004.  She also had choreoathetosis, hypertonicity and muscle rigidity.  Her seizures started as an extreme form of her exaggerated startle reflex, and progressed into generalized myoclonic seizures occurring 5 to 20 times a day. Diastat per rectum was prescribed for prolonged seizure activity. Benadryl was started to try to decrease muscle rigidity, spasticity, and choreoform movements. Klonopin was started for its combined effects of muscle relaxation and seizure control. Klonopin was well tolerated.  Its muscle relaxation effects were dramatic, and allowed Eliana to prop sit and do other PT/OT exercises with less startling, spasms, or seizures

Eliana’s vision regressed.  By April or May 2004, she could no longer recognize faces or turn toward visual stimuli, except for light.

In July 2004, Eliana had a consultation at the Duke University Pediatric Transplant Center with Dr. Joanne Kurtzberg to consider a stem cell transplant.  Because of her age and late stage of the illness, it was felt that she would not survive the chemotherapy and immunosuppression required to do this transplant.  

On November 17, 2004, Eliana was admitted to Egleston Hospital for the first time in 11 months.  She had a GI Bleed, possibly related to an extended course of prednisone used to treat severe reactive airway symptoms earlier that month.  She was also found to have dilated loops of bowel, a partial ileus, and a high fever.  She was admitted for observation, continued to have temperature spikes, and vomited and aspirated her stomach contents the next day.  

She was admitted to the ICU in respiratory distress.  She was given CPAP with her nebulizer treatments, a cooling blanket, IV fluids and other supportive care.  Temperature spikes continued even after IV antibiotics were started.  Blood and urine cultures were negative.  Blood work was normal.  Chest X-rays showed a new pneumonia, likely due to aspirating bloody emesis.  After 4-5 days, a second IV antibiotic (Cleocin) was started, with a resultant normalizing of temperature and improvement of respiratory status.  

During her stay, General Surgery followed her for her partial ileus and decompressed her bowels twice using a rectal tube.  She was transferred to a general floor for 4 more days where she continued to stabilize.  Work-up for her GI Bleed was never done due the risks of anesthesia required for an endoscopy, and because she stopped bleeding.  She required a PIC line for TPN after her 5th day with only peripheral nutrition; this was taken out before discharge.  She resumed Peptamen feeds without difficulty.  Prilosec was changed to Prevacid.  All other medications stayed the same. 

She was discharged on November 27, 2004.  Her IV Cleocin was changed to oral Cleocin, which she took for 5 more days.  Approximately 6 weeks later, she developed bloody stools. This was thought to be a colitis caused by Cleocin.  This was watched closely.  Yogurt was added to her feeds 4 times per day as a probiotic.

Eliana had not been hospitalized for the following 5 years and 2 months.  On January 13, 2010, she was admitted for less than 24 hours because her G-tube Genie button had to be removed in the operating room.  It was replaced with a Mickey button with no complications.  

Although she was not admitted to the hospital over that 5-year period of time, Eliana had serious respiratory episodes requiring oxygen, hourly nebulizer treatments, steroids, antibiotics, and around the clock chest physical therapy.  She was treated at home and was given an ICU level of care.  Her medical course, by system, is given below.

* During the 2006-07 winter, she started biting her tongue and required a mouth guard to prevent bleeding and aspiration of blood into the lungs. Baclofen was started to decrease muscle tone, which it did, but it also increased seizure activity.  The subsequent increases in Klonopin helped. 

* Lamictal was started in June 2007 and was gradually increased to 30mg 2X/day.  This medication helped relax her jaw muscles and decreased tongue biting.  It also helped relax her at the hip and ankles.  In July 2008, the dose was increased slowly to 45mg 2X/day. Lamictal was titrated up due to apneic episodes related to seizure activity.  She currently takes a total of 175 mg/day.

* Eliana has seizures throughout the day.  She must be monitored constantly for seizure activity, episodes of apnea that may accompany seizures, and choking on secretions during seizures.  She cannot be left unattended.  

* Eliana is at risk for common childhood illnesses, however, her underlying disease places her at very high risk from a common infection.  During these episodes, she receives more frequent (Q1-2hours) nebulizer treatments, around-the-clock manual chest physical therapy, oral suctioning, and oxygen, in addition to her baseline Gastrointestinal, Neurological, Nutritional, and Respiratory care.

o She requires constant monitoring for reflux and gagging, which has resulted in choking and aspiration many times.  

o Since October 2005, she is rarely left in an upright position or on her back, due to her inability to forewarn the caregiver with sounds of discomfort.  She must be placed on her side or on her abdomen to allow her respiratory secretions or vomit to flow out, without the threat of aspiration into the lungs.  

o Eliana’s reflux is exacerbated by her constipation, gastric distention, delayed gastric motility and seizures.  She is taking Prevacid. 

* GI Bleeding.  

o Aggressive monitoring, prevention, and treatment of GI bleeding were required in 2005.  

o The bleeding has occurred sporadically, varies in intensity, and is often related to pressure or rubbing while lying on her stomach.  

o Gastric contents are examined every 6 hours.  

o If blood is noted, the stomach is rinsed and the contents reexamined for an active bleed. 

o  Maalox is used to protect the stomach if the bleed is mild.  She takes Prevacid twice a day. 

* Colitis with Bloody Stools.  November –December 2005.  

o Eliana has since taken Yogurt with her feeds as a probiotic agent.

* Constipation; Digital Rectal Stimulation. 

o Constipation continues.  Eliana takes Miralax every day.  Reglan helps to promote gastric motility, Yogurt helps as a probiotic agent, and Peptamen Junior is used because it is predigested and easier to tolerate.  Bowel functioning is monitored closely to avoid gastric distention and its dangerous sequellae.  She has required digital rectal stimulation 2-3 times a week when when her abdomen is distended.  

* Distended loops of bowel in upper abdomen as indicated by X-Ray in summer 2008.  This was thought to be exacerbated by the use of the Cough Assist machine.  Since then, gastric venting has been done after Cough Assist use with good results.  Since May of 2010, gastric distention has improved, her abdomen has been softer and flatter, and she has seemed more comfortable.

* Increased demand for oxygen:  Eliana has portable oxygen tanks and an oxygen concentrator at home.  Oxygen is needed with even the mildest cold symptoms or a one-time fever spike.  Eliana was most recently on oxygen in February and March of 2011.  She needed 2 Liters per minute as a maximum.  Oxygen was weaned down and discontinued on March 5, 2011.

* Increased demands for Nebulizer treatments:

o Eliana’s nebulizer treatments have not been weaned from the every 3-hour schedule because of increased secretions and distress when given at longer intervals. 

* Positioning needs to address decline in pulmonary status:

o Eliana cannot be left on her back or seated in a chair without direct supervision. Trendelenberg positioning helps drain secretions.  Frequent position changes from side to side are needed to prevent consolidation of fluid in the lungs.

* Transdermal Scopolamine is used: one full patch (1.5mg) applied to the neck region every 48 hours to decrease oral secretions.  This has been very effective.

* Atrovent is now taken twice a day instead of once in order to dry secretions.

* Since January 2007, a Cough Assist machine has been used every 6 hours before feeds.

* Eliana uses the Vest Airway Clearance System twice a day and more as needed.

* In July, 2009, an abrasion was noted on her left eye.  She has been treated by Dr. Bordenca, an ophthalmologist. It was treated as an infection at first.  When it did not heal, aggressive treatment with artificial tears and Lacrilube were started.  In addition, she had her left eye glued partially shut due to her lack of blinking and need to keep her eye moist; this was done almost weekly for a while. On October 27, 2009, she had an outpatient procedure done at Scottish Rite Hospital in which her left eye was sewn partially shut.  The left eye remains half shut and the skin on the upper and lower lids have fused together nicely.  

* Since the fall of 2010, she has had a developing opacity on her right eye.  She is given artificial tears to both eyes every hour and Lacrilube ointment 3 times a day. Because it has not improved, she will be seeing Dr. Bordenca on March 17, 2011 to evaluate the need for surgery on her right eye. 

* Eliana requires aggressive oral care, due to dry mouth, lack of oral feeds, and inhaled steroid treatment.  She is at risk for oral thrush because of the use of Pulmicort twice a day.  Her teeth, tongue, and cheeks must be brushed and washed after each treatment and as needed. 

* In early 2007, as her ankle contractures were worsening, Eliana had skin breakdown on her feet, due to rubbing of her AFOs and possibly due to poor circulation.  Baclofen was started to decrease tone, but then seizures worsened.  The increases in Klonopin and the start of Lamictal both seemed to offset the seizures and decrease tone at the ankle, which improved the skin breakdown.  In 2008, she had skin breakdown on her ankles periodically requiring foot elevation, warm water soaks, and careful monitoring for skin infection.  She can develop skin breakdown on the heels of her feet if her AFO’s are kept on too long and when her range of motion exercises were done too aggressively. 

* Eliana gets serious skin irritation in the groin, buttocks, and axillary areas.  It worsens during periods prior to starting a menstrual cycle.  It is treated with zinc creams, topical steroids and medicated powder. 

* Eliana was prescribed wrist splints in early 2007 due to wrist contractures.  

* Eliana has HKAFO’s (hip-knee-ankle-foot orthotics) which allow her to stand upright.

* Eliana requires physical and occupational therapy exercises throughout the day as tolerated to maintain range of motion and existing muscle tone.  

* Eliana was evaluated by an endocrinologist in December of 2007, at the age of 5.  Lab tests confirmed precocious puberty, which was felt to be related to her seizure disorder, with seizure activity near the pituitary gland.  Her family was offered treatment with monthly Lupron injections, but they opted against it.  

* Eliana has severe body temperature dysregulation, which is seen in end stage Tay-Sachs disease.  Body temperature and room temperature are monitored and adjusted carefully. Care must be taken when she is in the sun, as her temperature can shoot up to 103 degrees in less than 30 minutes.  She is also monitored closely when it is cold, as her body temperatures will go down to 92 degrees very rapidly.