1. Lowe Syndrome KamolnatTabattanon

2. Background Inheritance Only affects boys But is an X-linked defect Rarity Extremely rare 1 out of 500,000 300 in the US No Treatment

3. Background (cont) Symptoms and Outcome Cataracts in both eyes Boys fitted with think glasses or contacts Most symptoms not until 7 months Glaucoma Seizures Underdeveloped in motor and mental skills Short Rickets, bone fractures, scoliosis, joint problems “Leaky” Kidneys 30-40 yr life span

4. Adam’s Story Adam Carrillo, 16 3.5 ft, 43 lb Size of 5 yr old School, Friends Drawing, Dancing Life Normal- chores, family vacations, time-outs Developed kidney problems, thinning hair, brain deterioration

5. March 2010 Stroke and Seizure Left him unable to stand or speak To lighten the mood, Adam danced the Chicken Dance in the hospital gurney 330 visitors in his 1st week Kitchen workers at his school Life, post-stroke PT sessions 4x/week, plus Dr visits Transporting became a hassle Can’t live his life by himself anymore Likely to suffer another stroke "I look at it as, I've always had the privilege of being Adam's mom."

6. Leland’s Story Son of Kaye McSpadden, Founder, Lowe Syndrome Association, Inc. Would be 32 Was 8 ½ when McSpadden gave the speech at the First International Conference on Lowe Syndrome Died June 5, 2000, at 22

7. “our lives became completely entwined with hospitals and doctors” Series of surgeries within a yr “he told us to take our son home, love him, and watch him die.” Devastated, later found out from specialist that Leland could live an outwardly normal life Began the LSA, to unite Lowe families

8. Jonathon’s Story Age 16 1 of 2 diagnoses in Scotland Learning disabilities other then Lowe’s Learned to walk - 5 £40,000 over the past ten years

9. Family works to create best social and educational environment for Jonathon Goes overseas to get information on potential cures or aids Family emotionally isolated Dr.s do not have sufficient information Speak openly to increase awareness Routines for Jonathon Lenses, feedings, equipment, etc Autism spectrum, epileptic Many many trips to hospital –blood tests, etc

10. Conclusion Families of affected ones devote much time and money to hospitals and equipment But in the end, Lowe boys act and behave as any other boy