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Fanconi Anemia:

The Molly Nash Story
What is Fanconi Anemia?

• Genetic disorder

• Causes bone marrow failure

• Causes leukemia

• Usually leads to death in early
  childhood
Symptoms

• Abnormal hands and arms
• Skeleton problems (hips,
  spine)
• Skin discoloration
• Short stature
• Mental retardation
• Digestive system problems
• Hearing problems
• Bone marrow failure
• Susceptible to infections
• Predisposition to leukemia
  and other cancers
Molly Nash was
  diagnosed with
  Fanconi Anemia
shortly after she was
         born
Molly’s Timeline


    Birth                    3 years             4 years         6 years



o   hand                   bone marrow failure    pre-leukemia   successful cord
    abnormalities                                                blood transplant
o   hip dislocation
o   deaf in the left ear
o   heart
    abnormalities
o   abnormal
    digestive system
Treatment

•Bone Marrow Transplant (BMT)
  • Cells from the patient’s bone marrow are replaced
     by


                          OR


 donor bone                         donor umbilical
 marrow cells                       chord blood cells
The Nash Family

•Lisa Nash underwent in vitro fertilization

•Doctors used pre-implantation genetic
diagnosis (PGD)
Pre-Implantation Genetic
    Diagnosis (PGD)
The Nash Family

•The Nash's selected embryos that:

   o   did not have FA

   o   were a protein match with Molly (this
       increased the chances that the bone
       marrow transplant would be
       successful)
Molly Nash - Treatment
•Molly received umbilical cord blood cells
from her baby brother when she was 6
years old

•She is no longer at risk for leukemia

•She still needs treatments for her
digestive and skeletal system
abnormalities

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Intro to fanconi anemia and molly nash pdf

  • 2. What is Fanconi Anemia? • Genetic disorder • Causes bone marrow failure • Causes leukemia • Usually leads to death in early childhood
  • 3. Symptoms • Abnormal hands and arms • Skeleton problems (hips, spine) • Skin discoloration • Short stature • Mental retardation • Digestive system problems • Hearing problems • Bone marrow failure • Susceptible to infections • Predisposition to leukemia and other cancers
  • 4. Molly Nash was diagnosed with Fanconi Anemia shortly after she was born
  • 5. Molly’s Timeline Birth 3 years 4 years 6 years o hand bone marrow failure pre-leukemia successful cord abnormalities blood transplant o hip dislocation o deaf in the left ear o heart abnormalities o abnormal digestive system
  • 6. Treatment •Bone Marrow Transplant (BMT) • Cells from the patient’s bone marrow are replaced by OR donor bone donor umbilical marrow cells chord blood cells
  • 7. The Nash Family •Lisa Nash underwent in vitro fertilization •Doctors used pre-implantation genetic diagnosis (PGD)
  • 8. Pre-Implantation Genetic Diagnosis (PGD)
  • 9. The Nash Family •The Nash's selected embryos that: o did not have FA o were a protein match with Molly (this increased the chances that the bone marrow transplant would be successful)
  • 10. Molly Nash - Treatment •Molly received umbilical cord blood cells from her baby brother when she was 6 years old •She is no longer at risk for leukemia •She still needs treatments for her digestive and skeletal system abnormalities