Medical Information

This is some information on some of the medical conditions that Emily faced:

Diffuse Large B-Cell Lymphomas (DLBCL)

A cancer of b-cells (lymphocytes) that normally reside in the lymphatic system.  
The word "diffuse" describes the cell pattern. B-cells arise from the bone marrow and mature or differentiate into many cell types that tend to migrate to different areas of the body.
What is lymphoma? Briefly, lymphomas result when damage to DNA occurs to a type of white blood cell (a lymphocyte) that results in the abnormal production of proteins that prevents the cells from dying when they should, or causes sustained rapid cell division. These malignant cells then may accumulate to form tumors that may enlarge the lymph nodes or spread to other areas of the lymphatic system, such as the spleen or bone marrow. Lymphoma cells can also migrate to, or first appear, outside the lymphatic system.  Lymphoma that presents outside the lymphatic system is called extranodal disease.  For details, see What's Lymphoma & Lymphoma simplified.
Initial presentation: DLBCL typically presents as a nodal or extranodal (outside the lymphatic system) mass with fast tumour growth associated with systemic symptoms, such as sweats, fatigue, and fever. In about 40% of cases, these lymphomas appear in areas outside lymph nodes, including digestive tract, skin, bone, thyroid, and testes. 
Staging: Staging refers to the how widespread the disease is. Imaging tests (CT MRI, PET, Gallium) and bone marrow biopsies are commonly done to estimate this. 

Staging defines how widespread the disease is and the locations of the disease in the body.



Hemophagocytic Lymphohistiocytosis:
Hemophagocytic Syndromes and Infection

Hemophagocytic lymphohistiocytosis (HLH) is a rare and unusual syndrome characterized by fever, splenomegaly, jaundice, and the pathologic finding of hemophagocytosis (phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors) in bone marrow and other tissues.  HLH may be diagnosed in association with malignant, genetic, or autoimmune diseases but is also prominently linked with Epstein-Barr (EBV) virus infection. Hyperproduction of cytokines, including interferon-g and tumor necrosis factor-a, by EBV-infected T lymphocytes may play a role in the pathogenesis of HLH. EBV-associated HLH may mimic T-cell lymphoma and is treated with cytotoxic chemotherapy, while hemophagocytic syndromes associated with nonviral pathogens often respond to treatment of the underlying infection.



Natural killer cell deficiency

Natural killer (NK) cell deficiency is an Primary cellualr immune system disorder in which the patient has low or absent levels of a certain type of white blood cells called NK cells. The NK cells help the immune system fight against disease and infection. These cells recognize and destroy body cells that have become infected with viruses or cancer. They have pouches, called granules, which are filled with chemicals that destroy infected cells on contact.
Healthy individuals normally experience fluctuations in the number of NK cells in the blood. These cells rapidly increase in response to an infection and then decrease for five to seven days after the infection.
Patients with NK cell deficiency are born with low or nonexistent levels of NK cells. As a result, these patients are vulnerable to infections. Life expectancy varies among patients, depending on how severe the deficiency. The condition may lead to fatal infections and recent studies have suggested patients may have an increased of developing cancer.
The exact incidence of NK cell deficiency remains unknown.
Currently, there is no specific treatment for NK cell deficiency. Instead, treatment focuses on curing infections associated with the disorder. Treatment of infections is generally longer in patients with NK cell deficiency than in the general population because they respond more slowly.



Epstein-Barr Virus

Epstein-Barr virus, frequently referred to as EBV, is a member of the herpesvirus family and one of the most common human viruses. The virus occurs worldwide, and most people become infected with EBV sometime during their lives. In the United States, as many as 95% of adults between 35 and 40 years of age have been infected. Infants become susceptible to EBV as soon as maternal antibody protection (present at birth) disappears. Many children become infected with EBV, and these infections usually cause no symptoms or are indistinguishable from the other mild, brief illnesses of childhood. In the United States and in other developed countries, many persons are not infected with EBV in their childhood years. When infection with EBV occurs during adolescence or young adulthood, it causes infectious mononucleosis 35% to 50% of the time.

Symptoms of infectious mononucleosis are fever, sore throat, and swollen lymph glands. Sometimes, a swollen spleen or liver involvement may develop. Heart problems or involvement of the central nervous system occurs only rarely, and infectious mononucleosis is almost never fatal. There are no known associations between active EBV infection and problems during pregnancy, such as miscarriages or birth defects. Although the symptoms of infectious mononucleosis usually resolve in 1 or 2 months, EBV remains dormant or latent in a few cells in the throat and blood for the rest of the person's life. Periodically, the virus can reactivate and is commonly found in the saliva of infected persons. This reactivation usually occurs without symptoms of illness.

EBV also establishes a lifelong dormant infection in some cells of the body's immune system. A late event in a very few carriers of this virus is the emergence of Burkitt's lymphoma and nasopharyngeal carcinoma, two rare cancers that are not normally found in the United States. EBV appears to play an important role in these malignancies.

Most individuals exposed to people with infectious mononucleosis have previously been infected with EBV and are not at risk for infectious mononucleosis. In addition, transmission of EBV requires intimate contact with the saliva (found in the mouth) of an infected person. Transmission of this virus through the air or blood does not normally occur. The incubation period, or the time from infection to appearance of symptoms, ranges from 4 to 6 weeks. Persons with infectious mononucleosis may be able to spread the infection to others for a period of weeks. However, no special precautions or isolation procedures are recommended, since the virus is also found frequently in the saliva of healthy people. In fact, many healthy people can carry and spread the virus intermittently for life. These people are usually the primary reservoir for person-to-person transmission. For this reason, transmission of the virus is almost impossible to prevent.

The clinical diagnosis of infectious mononucleosis is suggested on the basis of the symptoms of fever, sore throat, swollen lymph glands, and the age of the patient. Usually, laboratory tests are needed for confirmation. Serologic results for persons with infectious mononucleosis include an elevated white blood cell count, an increased percentage of certain atypical white blood cells, and a positive reaction to a "mono spot" test.

There is no specific treatment for infectious mononucleosis, other than treating the symptoms. No antiviral drugs or vaccines are available. Some physicians have prescribed a 5-day course of steroids to control the swelling of the throat and tonsils. The use of steroids has also been reported to decrease the overall length and severity of illness, but these reports have not been published.

It is important to note that symptoms related to infectious mononucleosis caused by EBV infection seldom last for more than 4 months. When such an illness lasts more than 6 months, it is frequently called chronic EBV infection. However, valid laboratory evidence for continued active EBV infection is seldom found in these patients. The illness should be investigated further to determine if it meets the criteria for chronic fatigue syndrome, or CFS. This process includes ruling out other causes of chronic illness or fatigue


BK Virus

BK is a member of the Polyomaviridae family, which are small, nonenveloped viruses with a closed circular double-stranded DNA genome. Polyomaviruses are ubiquitous in nature and can be isolated
from a number of species. BKV and JCV make up the members of the human polyomaviruses. BK virus was first isolated in 1971 from the urine of a renal transplant patient who developed ureteral stenosis postoperatively. The virus was named after the initials of this first patient. Primary infection with BKV typically occurs in childhood, probably as a mild upper respiratory infection.
Studies suggest over 90% of the population has been infected with BK virus by the age of ten years. Following primary infection, the virus establishes latency in the urogenital tract where it remains for
life. Reactivation of the virus can occur spontaneously or, more commonly, in an immunocompromised host.


Bone Marrow Transplantation

What is a bone marrow transplantation?

Bone marrow transplantation (BMT) is a special therapy for patients with cancer or other diseases which affect the bone marrow. A bone marrow transplant involves taking cells that are normally found in the bone marrow (stem cells), filtering those cells, and giving them back either to the patient they were taken from or to another person. The goal of BMT is to transfuse healthy bone marrow cells into a person after their own unhealthy bone marrow has been eliminated.

What is bone marrow?

The bone marrow is a soft, spongy tissue found inside the bones. The bone marrow in the hips, breast bone, spine, ribs, and skull contain cells that produce the body's blood cells. The bone marrow is responsible for the development and storage of about 95 percent of the body's blood cells. The three main types of blood cells produced in the bone marrow include:

  • red blood cells (erythrocytes) - carry oxygen to the tissues in the body.

  • white blood cells (leukocytes) - help fight infections and to aid in the immune system.

  • platelets - help with blood clotting.

Each of these cells carries a life-maintaining function. The bone marrow is a vital part of the human body.

What are stem cells?

Every type of blood cell in the bone marrow begins as a stem cell. Stem cells are immature cells that are able to produce other blood cells that mature and function as needed.

Stem cells are the most important cells needed in a bone marrow transplant. Stem cells, when transplanted, find their way to the recipient's marrow and begin to differentiate and produce all types of blood cells that are needed by the body.

Why is a bone marrow transplant needed?

The goal of a bone marrow transplant is to cure many diseases and types of cancer. When a child's bone marrow has been damaged or destroyed due to a disease or intense treatments of radiation or chemotherapy for cancer, a bone marrow transplant may be needed.

A bone marrow transplant can be used to:

  • replace diseased, non-functioning bone marrow with healthy functioning bone marrow (for conditions such as leukemia, aplastic anemia, and sickle cell anemia).

  • replace the bone marrow and restore its normal function after high doses of chemotherapy or radiation are given to treat a malignancy. This process is often called "rescue" (for diseases such as lymphoma and neuroblastoma).

  • replace bone marrow with genetically healthy functioning bone marrow to prevent further damage from a genetic disease process (such as Hurler's syndrome and adrenoleukodystrophy disorder).

Bone marrow transplantation has risks involved, some of which are life threatening. The risks and benefits must be weighed in a thorough discussion with the bone marrow transplant team prior to the procedure.

Each child experiences diseases differently and a bone marrow transplantation may not be appropriate for everyone who suffers from these diseases. Some of the diseases that have been treated with bone marrow transplant include the following:

  • leukemia

  • lymphomas

  • some solid tumors (i.e., neuroblastoma, rhabdomyosarcoma, brain tumors)

  • aplastic anemia

  • immune deficiencies (severe combined immunodeficiency disorder, Wiskott-Aldrich syndrome)

  • sickle cell disease

  • thalassemia

  • Blackfan-Diamond anemia

  • metabolic/storage diseases (i.e., Hurler's syndrome, adrenoleukodystrophy disorder)

  • cancer of the kidneys

What are the different types of bone marrow transplants?

There are different types of bone marrow transplants depending on who the donor is. The different types of bone marrow transplant include the following:

  • autologous bone marrow transplant
    The donor is the child him/herself. Stem cells are taken from the child either by bone marrow harvest or apheresis (a process of collecting peripheral blood stem cells) and then given back to the child after intensive treatment. Often the term "rescue" is used instead of "transplant."

  • allogeneic bone marrow transplant
    The donor shares the same genetic type as the child. Stem cells are taken either by bone marrow harvest or apheresis from a genetically-matched donor, usually a brother or sister. Other donors for allogeneic bone marrow transplants include:

    • a parent - a haploid-identical match is when the donor is a parent and the genetic match is at least half identical to the recipient.

    • an identical twin - a syngeneic transplant is an allogeneic transplant from an identical twin. Identical twins are considered a complete genetic match for a marrow transplant.

    • unrelated bone marrow transplants (UBMT or MUD for matched unrelated donor) - the genetically matched marrow or stem cells are from an unrelated donor. Unrelated donors are found through the national bone marrow registries.

  • umbilical cord blood transplant
    Stem cells are taken from an umbilical cord immediately after delivery of an infant. These stem cells reproduce into mature, functioning blood cells quicker and more effectively than do stem cells taken from the bone marrow of another child or adult. The stem cells are tested, typed, counted, and frozen until they are ready to be transplanted.

    Because the stem cells are "new," they are able to produce more blood cells from each stem cell. Another advantage cord blood has is that the T-lymphocytes (part of the immune system that causes graft-versus-host disease) are not completely functional this early in the stage of life. Recipients of cord blood transplants have a decreased risk for severe graft-versus-host disease.

Spinal Tap (LP)

In medicine, a lumbar puncture (colloquially known as a spinal tap) is a diagnostic and at times therapeutic procedure that is performed in order to collect a sample of cerebrospinal fluid (CSF) for biochemical, microbiological, and cytological analysis, or  as a treatment with injection of chemotherapy for various cancer protocols.



A technique of visualizing the inside of the airways for diagnostic and therapeutic purposes. An instrument (bronchoscope) is inserted into the airways, usually through the nose or mouth, or occasionally through a tracheostomy. This allows the practitioner to examine the patient's airways for abnormalities such as foreign bodies, bleeding, tumors, or inflammation. Specimens may be taken from inside the lungs: biopsies, fluid (bronchoalveolar lavage), or endobronchial brushing. The construction of bronchoscopes ranges from rigid metal tubes with attached lighting devices to flexible fibreoptic instruments with realtime video equipment.