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genetics proj


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genetics proj

  1. 1. Lowe Syndrome<br />KamolnatTabattanon<br />
  2. 2. Background <br />Inheritance<br />Only affects boys<br />But is an X-linked defect<br />Rarity<br />Extremely rare<br />1 out of 500,000 <br />300 in the US<br />No Treatment<br />
  3. 3. Background (cont)<br />Symptoms and Outcome<br />Cataracts in both eyes<br />Boys fitted with think glasses or contacts<br />Most symptoms not until 7 months<br />Glaucoma<br />Seizures <br />Underdeveloped in motor and mental skills<br />Short<br />Rickets, bone fractures, scoliosis, joint problems<br />“Leaky” Kidneys<br />30-40 yr life span<br />
  4. 4. Adam’s Story<br />Adam Carrillo, 16<br />3.5 ft, 43 lb<br />Size of 5 yr old<br />School, Friends<br />Drawing, Dancing<br />Life <br />Normal- chores, family vacations, time-outs<br />Developed kidney problems, thinning hair, brain deterioration<br />
  5. 5. March 2010<br />Stroke and Seizure<br />Left him unable to stand or speak<br />To lighten the mood, Adam danced the Chicken Dance in the hospital gurney<br />330 visitors in his 1st week<br />Kitchen workers at his school<br />Life, post-stroke<br />PT sessions 4x/week, plus Dr visits<br />Transporting became a hassle<br />Can’t live his life by himself anymore<br />Likely to suffer another stroke<br />"I look at it as, I've always had the privilege of being Adam's mom." <br />
  6. 6. Leland’s Story<br />Son of Kaye McSpadden, Founder, Lowe Syndrome Association, Inc. <br />Would be 32<br />Was 8 ½ when McSpadden gave the speech at the First International Conference on Lowe Syndrome<br />Died June 5, 2000, at 22<br />
  7. 7. “our lives became completely entwined with hospitals and doctors” <br />Series of surgeries within a yr<br />“he told us to take our son home, love him, and watch him die.”<br />Devastated, later found out from specialist that Leland could live an outwardly normal life<br />Began the LSA, to unite Lowe families<br />
  8. 8. Jonathon’s Story<br />Age 16<br />1 of 2 diagnoses in Scotland<br />Learning disabilities other <br />then Lowe’s <br />Learned to walk - 5<br />£40,000 over the <br /> past ten years <br />
  9. 9. Family works to create best social and educational environment for Jonathon<br />Goes overseas to get information on potential cures or aids<br />Family emotionally isolated<br />Dr.s do not have sufficient information<br />Speak openly to increase awareness<br />Routines for Jonathon<br />Lenses, feedings, equipment, etc<br />Autism spectrum, epileptic<br />Many many trips to hospital –blood tests, etc<br />
  10. 10. Conclusion<br />Families of affected ones devote much time and money to hospitals and equipment<br />But in the end, Lowe boys act and behave as any other boy<br />