Event 2: In Her Own Words

Sharee as an Infant

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Sharee as an infant

Sharee In Her Own Words: As an Infant 

Genetics of Sickle Cell Disease

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The illustration shows a child with two parents who are sickle cell carriers has a 50% risk of being a sickle cell trait carrier, a 25% chance of having regular hemoglobin, and a 25% chance of having sickle cell anemia
Genetics of sickle cell disease

 Regular Hemoglobin Compared to Sickle Cell Hemoglobin

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Illustration shows how sickle cell hemoglobin forms long, unflexible chains.
Normal hemoglobin compared to sickle cell hemoglobin
  • Mutation in one of the 146 amino acid molecules in a beta-globin chain leads to production of abnormal hemoglobin (hemoglobin S, HbS)
  • Under hypoxic conditions, the beta chains link together
    • Form stiff rods that are sharp and spike-like
    • RBC becomes crescent-shaped
  • RBCs rupture easily and dam up small vessels
    • Can cause extreme pain and loss of circulation

https://ghr.nlm.nih.gov/condition/sickle-cell-disease#genes

Sickle Cell Disease in the US: Understanding the Disease Context

Sickle cell anemia is a deadly and painful disease with variable coverage in US health care professional training programs

  • Mortality
    • Average life expectancy is 42 years in males and 48 years in females
  • Pain crises
    • 2/3 of patients experience chronic pain with acute events occurring multiple times throughout a year
    • Frequency and severity of pain are variable

Reference

Platt OS, et al. New England Journal of Medicine. 1994; 330(23):1639–44
Wally R, et al. Annals of Internal Medicine. 2008; 148(2): 94-101

Sickle Cell Disease(SCD) in the US: Context for stigmatization

  • Most US healthcare providers are White. Most US Sickle Cell Disease patients are Black or Hispanic.
  • According to the CDC, about 100,000 Americans are affected with Sickle Cell Disease
    • Occurs in about 1 out of every 365 African-Americans
    • Occurs in about 1 out of every 16,300 Hispanic-Americans
  • The opioid epidemic has increased stigmatization of patients with SCD, because the pain is "invisible" and patients need pain medication urgently during crises

Reference

Castillo-Page L. Association of American Medical Colleges; 2016
Sickle Cell Disease: Data & Statistics [Internet]. Center for Disease Control and Prevention. CDC; 2016

Sharee at 7 Months Old

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Sharee smiling as a toddler in a bouncy swing.
Sharee at 7 months old

Sharee In Her Own Words: Symptom Onset

Dactylitis

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A child's hands swollen with dactylitis
A child's hands swollen with dactylitis
  • Dactylitis can be the first manifestation of vaso-occlusive crisis.

Vaso-occlusive Crisis

  • Acute pain
  • Can occur without warning
  • Pain described as sharp, intense, stabbing, or throbbing
  • Pain often occurs in the:
    • Lower back
    • Legs
    • Arms
    • Abdomen
    • Chest
  • Can be brought on by triggers

https://www.nhlbi.nih.gov/health-topics/sickle-cell-disease

Hydroxyurea

  • FDA approved
  • Raises fetal hemoglobin expression
  • Should be offered to children with SCD, HbS-beta-0-thalassemia starting at 9 months old
  • Reduces pain crises & acute chest syndrome

Sharee at One Year Old

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Sharee at one year old, wearing a sweater dress in front of a Christmas tree.
Sharee at one year old

Sharee In Her Own Words: Combating Symptoms

Home Pain Management

  • Warmth
  • NSAIDs vs Acetaminophen
  • Hydration

NSAIDs compared to Acetaminophen

NSAIDs and acetaminophen may not completely relieve pain in children with SCD, and overuse may lead to complications due to toxicity. NSAIDs are associated with mucosal bleeding; acetaminophen can cause permanent liver damage. Parents, caregivers - and patients as soon as they are able - should be educated and supported in efforts to record the dates, times and dosing of all products, including cold and allergy combination products that contain NSAIDs or acetaminophen.

Ibuprofen (Advil®, Motrin®)

  • Indications:
    • Mild to moderate pain
    • Fever
    • Headache
    • JRA/JIA
    • OA; RA
  • Metabolism: oxidation
    • Inhibitor of CYP2C9
  • Onset of action: 30-60 min
  • t½: 2-4 hr
  • Formulations:
    • Oral (tabs, caps, susp, drops)
    • IV (Caldolor®)

APAP (Tylenol®)

  • Indications: pain and fever,
  • Metabolism:
    • Mostly glucoronidation and sulfate conjugation (80-90%)
    • Oxidative metabolism via 2E1 & 1A2 → toxic metabolite (NAPQI)
      • Inactivated by glutathione
  • With large doses, main route is saturated
  • FDA not more than 325 mg of acetaminophen per dose in combination products (e.g. cold and flu medications such as Alka Selzer Plus, Mucinex, NyQuil.)

Sharee in Second Grade

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School photo collage of Sharee in second grade with her hair in a pony tail.
Sharee in second grade

Sharee In Her Own Words: First School Episode

Role of the School Nurse

  • Communication with teachers and staff
  • Assess symptoms, early interventions, open communication with other providers
  • Trust, collaboration, advocacy

If There Is No School Nurse

In states and localities that lack school nurses, teachers, bus drivers, and other school staff may benefit from instruction about common childhood conditions and diseases for which referral and treatment may be necessary. A local public health department, library, or pediatrician may be able to provide guidance. As a universal precaution, schools should educate children, parents, teachers and staff about procedures for any health crisis in any child and create systems for reporting and follow-up. In Sharee's case the bus driver would have known what to do and how to close the loop with the school on Sharee's severe pain episode. On-line, NIH Medline Plus provides a basic overview of sickle cell disease:

https://medlineplus.gov/magazine/issues/winter11/articles/winter11pg17.html

Sharee at Eight Years Old

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Head and shoulders shot of Sharee at eight years old with her hair in a ponytail
Sharee at eight years old

Sharee In Her Own Words: Coping Skills

Psychosocial Concerns

  • Children with SCD may feel different or isolated
  • They may blame themselves for this disease
  • They need support to learn healthy coping skills and to build self-esteem

Sharee in Fourth Grade

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Head and shoulder shot of Sharee in fourth grade, with her hair pulled into a pony tail.
Sharee in fourth grade

Sharee In Her Own Words: Triggers of Pain Crisis

Psychosocial concerns

  • Children with SCD may feel different or isolated
  • They may blame themselves for this disease
  • They need support to learn healthy coping skills and to build self-esteem

A Vicious Cycle

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Illustration shows how hypoxic conditions feed into cell sickling that feed into erythrocyte rupture that feeds into a decrease of the oxygen carrying capacity of blood before the cycle starts again.
A vicious cycle
  • Once the process starts, it progresses rapidly
  • Patients can decompensate quickly, within a few hours:
    • Dangerously low erythrocyte counts
    • Will lead to death if not treated promptly

ER protocol

  • IV fluids
  • NSAIDs
  • Ketorolac
  • 1-4 doses of IV narcotics

Ketorolac (Toradol)

  • NSAID used for the short-term relief of moderately severe pain
  • Should not be used for longer than 5 days
  • First doses of ketorolac by intravenous or intramuscular injection in a hospital or medical office.
  • May continue treatment with oral ketorolac.
  • Stop taking oral ketorolac on the fifth day after receiving ketorolac injection.
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chemical composition of morphine
Chemical composition of morphine

 

Morphine

  • Used as an analgesic
  • Is a potent agonist at the mu opioid receptor
  • Multiple routes of administration
  • Metabolized by hepatic cytochrome P450 enzymes and glucuronidation into a number of active metabolites
  • Excreted by renal elimination
  • Chronic use may cause renal disease in sickle cell patients
  • May cause respiratory depression and death
  • May lead to tolerance, dependence, and addiction
  • May cause constipation and urinary retention
  • Discontinuation may lead to withdrawal symptoms
  • DEA Schedule II drug

Gupta M et al. (2015) Morphine for the treatment of pain in sickle cell disease. Sci World J doi:  10.1155/2015/540154 PMC4306369

Sharee: My Diary

Sharee at 15-Years-Old

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15-year-old Sharee sits in a recliner holding a ribbon in one hand and a trophy in the other.
Sharee at 15-years-old

Sharee In Her Own Words: Physical Education

504 Plan

  • Overall accommodations
     
  • Academic
    • Extra time for tests
  • Physical activity
    • Rest periods, access to water
  • Allow for advocacy and communication

Sickle cell anemia is a qualifying disability under the federal Individuals with Disabilities Education Act. Schools that receive federal funds, including all K-12 public schools and universities, are required to provide accommodation plans for students with sickle cell disease regardless of the whether or not the school has a nurse on staff. For more information about 504 plans, see: https://sites.ed.gov/idea/about-idea/

Sharee as a Junior in High School

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Sharee as a junior in high school wearing a prom dress and posing for a full length photo with a corsage on her wrist.
Sharee as a high school junior

Sharee In Her Own Words: Combating Implicit Bias

Implicit bias

  • Affects minorities disproportionately
  • Leads to worse medical care for victims of bias
  • Strategies to recognize and combat implicit bias are needed

What is Implicit Bias?

Bias that is subconscious and is accumulated over a lifetime of experience

  • Can override conscious beliefs
  • Can lead one to unknowingly act against one’s accepted values
  • Influenced by role modeling as much as by overt “teaching”
  • Affects decisions and behavior towards others
    • Not limited to race

Steed J. Mayo Clinic News Network. Mayo Clinic; 2015

Sharee's Most Recent Crisis

 

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