Lopatkacomp1diagnosisletter

To whom it may concern:

PATIENT: DATE OF BIRTH: DIAGNOSIS:

(name) has a disorder of mitochondrial metabolism. The clinical manifestations in this patient include (EXAMPLES – write in primary  symptoms): seizures, migraine, strokes, stroke-like events, myopathy, neuropathy, movement disorder, hearing loss, visual loss, cardiomyopathy, cardiac conduction defect, gastroparesis resulting in intestinal pseudoobstruction, fasting intolerance, clinical deterioration during viral infections and dehydration, etc.) The diagnosis of mitochondrial disease is based on the following clinical and  laboratory findings:  (write method of diagnosis).   Individuals with such a   metabolic disease have a risk of deterioration, sometimes permanent, due to  the common effects of a physiologic stress such as a viral or bacterial  infection, such as fever, anorexia or dehydration. There is no evidencebased  medicine review to support these recommendations, but they are based  on a consensus opinion of several authorities in the field.  Because of the patient’s diagnosis, I have instructed the patient to carry this  letter on their person and present this to any physician or emergency  department that will be performing a medical evaluation. In addition to the  standard evaluation and treatment, I do recommend that strong consideration  be made for intravenous fluids if there is any history or anorexia, vomiting or diarrhea. Oral rehydration therapy does not seem to be as effective as it is in otherwise healthy patients. Although there is no substitute for the standard history and examination, special attention should be paid for evaluation of electrolytes, glucose, liver enzymes, CK, CBC, urine analysis (including pH, presence of ketones, and specific gravity). If blood lactate and ammonia are readily available, these can be obtained as well. In general, I recommend a bolus of normal saline if there is evidence of  dehydration, followed by D5 (or D10) with ¼ to ½ NS with KCl (if  appropriate) to run in at about 1.5 times maintenance. If levocarnitine is available I would also recommend placing 1000 mg in each liter bag of

SAMPLE

intravenous fluids, or bolus with 1000 mg if the need for IV fluids will be brief. In some circumstances, patients feel much better after the IV fluid bolus and a few hours of IV therapy, but in other situations, IV fluids should be continued for 1-3 days (an observation admission is generally acceptable). In this particular patient, the history of prior response suggests that fluids will likely be necessary for (your doctors recommendations)

hours. Any identified medical condition should be treated as you would any other patient. Some patients with mitochondrial disease are susceptible to the ototoxic effects of systemic aminoglycosides, so these are best avoided unless there is no other adequate antibiotic coverage. There is no absolute contraindication to aminoglycosides. If there is a need for emergency surgery we do suggest avoiding Lactated Ringers solution unless the clinical situation suggests otherwise. During anesthesia and in the post-operative period, blood glucose and lactate levels should be monitored. Some individuals with mitochondrial disease are more sensitive to volatile anesthetics, and in some circumstances only 10% of the typical dose of a volatile anesthetic is necessary to obtain adequate anesthsia. If possible BIS monitoring (bispectral index) should be done during anesthesia as a much lower dose achieves a BIS<60. Short courses of propofol has been safely used in patients with this diagnosis (1-2 hours) but prolonged anesthesia should be avoided. Malignant hyperthermia is rare in patients with this diagnosis but there is a concern for rhabdomyolosis. For elective and non-urgent procedures, the patient should be at baseline health status without any dehydration or infection prior to the procedure. Serious attention with respiratory therapy measures (such as incentive spirometers) should be used in the post-operative period. If there are any questions, please call me. My office number is  (your doctors   telephone number) and after hours my service can be reached at  (your   doctors telephone number). I would appreciate if you could give the patient a copy of all lab results and a discharge summary. Sincerely

(your doctors signature)

Date RE: REG# Dear Mr. and Mrs.

The Introductory paragraph includes visit date, clinic name, reason for visit, and purpose of letter. The letter is lacking complete historical information, although some is included in the introductory paragraph. One may wish to include more complete historical information in a separate paragraph following the introduction.

We are sending this letter to summarize our meeting on (date), in the Pediatric Genetics Clinic at the University of Medical Center. Your son, Philip, was referred by Dr. of the Division of Pediatric Orthopedics for evaluation for possible neurofibromatosis. As you are aware, Philip was diagnosed as having a pseudoarthrosis  1 of the left tibia1 and also was noted to have several cafe-au-lait spots 1 both of    which are features of neurofibromatosis.

Suggestions:

1 Define these terms in  everyday language.

Neurofibromatosis 1 (NF) is a progressive disorder of the skin and nervous system that occurs in about 1 in every 3000 individuals. The features of NF include: cafe-au-lait spots, axillary and inguinal 1 freckling, neurofibromas (small    tumor-like growths), Lisch nodules (areas of  pigment in the iris), congenital defects of the bones, optic gliomas (a tumor of the optic nerve), and a first degree 1 relative with NF. It is a highly variable condition involving only cafe-au-lait spots in some individuals to numerous neurofibromas and other more serious findings in others. Approximately 80% of individuals affected with NF have mild to moderate symptoms; about 20% have more significant problems. It is not possible to predict in advance which individuals will develop the more serious complications of NF.

2 This is an example of the use of distance that may modulate the impact of powerful news.

In order to make the diagnosis of NF, at least two of the seven features described above must be  present. Philip has multiple cafe-au-lait spots, inguinal freckling, and a pseudoarthrosis. Therefore, he has the necessary criteria for making the diagnosis of NF. 2 It is not possible to   know whether he will develop symptoms over time consistent with mild to moderate NF or

416 Baker, Eash, Schuette, and Uhlmann

3 This is a statement about which the counselor cannot be certain.

4 This is an example of  excluding mention of staff, which increases distance. Alternatively, using first person reference to the staff would decrease distance, thereby strengthen the recommendation.

whether he will have more serious complications. However, as indicated above, he will, more than likely 3 have only mild to moderate symptoms. At   the present time, it is recommended that Philip continue having 4 yearly pediatric examinations and in addition, a yearly evaluation by ophthalmology (including formal assessment of peripheral vision) and genetics (genetics visits could alternate with pediatrics so that he is seen at 6 month intervals). Children with NF should be monitored for height, weight, head circumference, blood pressure, vision and hearing, evidence of scoliosis, normal sexual development, and any changes in the skin such as neurofibromas. Of course, in addition, Philip needs continued follow-up with orthopedics.

5 Use of the word // condition //

rather than // disorder // is more value-free.

6 The information about chromosomes is not necessary for explaining the genetics of NF and could be eliminated.

7 This is an example of  language that is not value-free nor people-first.

Neurofibromatosis is inherited as an autosomal dominant condition 5. It results from the presence of a single abnormal gene. By way of review, genes are the basic units of hereditary information. Genes code for all the body’s traits and functions. Genes occur in pairs, so that there are two matching genes that code for each trait. Genes are carried on larger structures known as chromosomes. Chromosomes also occur in paris; one member of each chromosome pair (and thus one member of each gene pair) is from one parent; the other is from the other parent. 6 Since one member of every gene pair is present in each egg or sperm, an affected 7

individual has a 50% chance for transmitting the NF gene to his or her children, who then may have similar, milder, or more severe symptoms. Approximately one-half of individuals who have NF have inherited the NF gene from one of their parents. The other half do not have an apparently affected parent; the NF gene in these individuals arose as a new mutation (a spontaneous gene change) in either the egg or sperm cell of one of  the parents. Careful physical examinations of each of you are therefore recommended to check for symptoms and signs of NF in order to determine whether Philip inherited the NF gene from one of you or whether it arose for the first time in him.

Guidelines for Writing Letters to Patients 417

This has importance in terms of your own medical care, and it has implications for other family members. If one of you is found to have NF, then the risk for recurrence of NF in any future pregnancy is 50%. If neither of you is found to have NF, then the risk for recurrence is probably not significantly greater than the general population risk of less than 1%.

8 This paragraph and paragraph #3 both contain recommendations, which could be combined in just one location.

Several specific recommendations were made at the time of our meeting 8. It is recommended that Philip have a MRI of the brain because of his history of speech delay and in view of his diagnosis of NF. In addition, a consultation with Physical Medicine & Rehabilitation is recommended to determine whether an exercise program is indicated because of the need for bracing of his left leg. Additional information in the form of written materials prepared by the National Neurofibromatosis Foundation, Inc. were provided to you during your visit. The local chapter of the NF Foundation may be an additional source of materials and support. Their phone number is. Should there be any additional questions or concerns regarding our meeting, please feel free to call our office at the number above. Otherwise, we look forward to meeting with you again at the time of your follow-up appointment. Sincerely, Genetic Counselor Division of Pediatric Genetics Division of Pediatric Genetics Assistant Professor of Pediatrics and Human Genetics cc: Dr. Orthopedics

Sample Letter of Medical Necessity to replace existing equipment

Dear Medical Reviewer, John Doe is a 45y/o male with Spinal Cord Injury. His condition is characterized by __. John Doe is unable to ambulate to accomplish his mobility related Activities of Daily Living (ADL's). He does not have the ability to stand to accomplish these activities. He is unable to use any ambulatory assistive device to accomplish these activities safely. He is able to use a manual wheelchair sufficiently to accomplish these types of tasks while in a seated position. A Marvel Wheelchair MV01-50000-00 can be used for these activities. I am writing this letter to provide documentation to show medical necessity for the

following items.

Characteristics: formal adressed to the name of the patient signed by the doctor filled with facts Criteria: long explains the dianosis treatments uses formal words To: Mr. and Mrs. Jones Patient: Ryan Jones Date of Birth: March 15, 2001 Diagnosis: Autism I have received Ryan’s test results and they show some interesting results, Ryan has a disorder know as autism. While this is a non life threatening disorder, it is something that will follow him into adulthood. Autism is a neurological disorder that affects one in every one hundred and ten. The cause of the disorder is unknown, but there are many treatments and therapy that can help aid Ryan with his day to day life. The clinical manifestations shown by this patient include: Social and communicational deficits, deteriorating eye sight and hearing, and delayed sensory perception. Ryan was given the MCHT test and scored considerably high. After observing him myself, and after being seen by three behavioral specialists, it is in the best interest of the patient to be seen by a specialist. I have included a list of the names of the specialists associated with my practice. The suggested treatment for Ryan includes, occupational therapy, speech and language therapy, and physical therapy. I also suggest that when Ryan begins to enter the school system, that you place him in a school that specializes in the care and education of individuals with exceptionalities. It will benefit him in the long run to be surrounded by people who will help him learn and develop. In addition to the list of specialists, I have included a brochure with facts and statistics that will answer any of your questions. Sincerely, Dr. Brown ( pediatric specialist)

Specialists: Dr. Smith OT Dr. Williams PT  Dr. Waller ( psychologist)