Extremely rare, as of fall 2012 I was told there are only 46 world wide, living. Global delays, oral defensive, short stature, immunosuppression, cardio-facial anomalies.
As above. Heart involvement, my son has repaired coarctation of the aorta, ASD, VSD, bicuspid aortic valve. Missing teeth. Agents is of the corpus callosum. Pachyderm gyri, tracheal and bronchial malacia, parychimal malacia, feeding problems, frequent infections, short stature.
None Diagnosed by symptoms
Early childhood interventions. Treat symptoms as they appear. Treat infections as they present. Testing as needed for new symptoms. Mostly maintainance.
None known to me.
Patrick was adopted at age 18 mos. he had a trach, g-tube, vent dependent, trach dependent. He was happy, and still is. Very tiny, weighing 12 lbs. we sought out doctors as needed, with the PCP, pulmonogoligist, and GI docs already on board. His delays became prominent as he grew. He crawled at 2yrs 8 mos. sat at 2 yrs 6 mos. walked at 4yrs 3 mos. he spoke his first word at 9 yrs. he has a fairly decent receptive language, but a very small communication language. He has a small amount of ASL that remains garbled due to his under developed fine motor skills. He has a mild to moderate hearing loss. He was home schooled through elementary school, and now attends school 2 days a week for 4 hours a day. Illness and exposure keep him from further school, and he has very low endurance. I knew from the moment I met him at age 4 months that he was my son from another mother. He smiled at me, his first ever smile, according to his nurse. He was supposed to die at or before age 1, but our God and great physician has chosen to keep him here, and this year on July 4 he will reach 20 years old. We were told that he was blind and deaf, but he sees well with glasses, and can hear us, and others if they are near him. He had cataracts removed when he was 6, and had victrectomies at age 8. He is truly a happy lovable miracle who has little trouble getting his point across. I have been unable to make contact with other families dealing with this syndrome.
Contributed by MOM Barbara