jlbryan Posted 06.23.09 | trying to figure out what type of testing I should have done on my son. Quick bit of info. 10 years old, male, dob 4-8-99 ht:5'0" wt: 115lbs. Now the things that have me concerned: ABN MRI, 11-8-5 mm poss chroid fissure cyst or hippocampal sulcus remnant? (Does not enhance) Nephrectomy @ age 4 due to multi-cystic dysplastic kidney, found in-utero, removed due to changes on imaging, solid apearing cysts. Pathology report DX: renal dysplasia, partially cystic and focal necrosis. Enlarged liver, 1.5 cm cyst on spleen, tourettes syndrome, speech dysfluency, distal weakness, GI issues, 24 ph study ABN, due to prolonged (45 min) reflux! duration, NL colonoscopy. Abd distension and intermitten pain, Right nipple small cyst, inverted bilateral nipples. H/o bilateral hydrocele and hernia repair @ age 2yrs. Visual perceptial disorder, can not tie shoes, button shirt/pants. However very accomplished soccer player. Bilateral flat feet, wide, almost web toes, Ability to expand all toes on both feet wide apart as you would your hand, so that the toes are not touching each other. ABN VER study. Wears glasses, dx astigmatism. lactase, sucrase, maltase, palatinase test NL. IGG 552 low. A-1-Antitrypsin phenotype = PI MM. MCH Low 28.7, MCHC High 35.3, Albumin High 5.0, A/G ratio High 1.9 all other labs NL. PLEASE HELP ME FIGURE OUT WHAT TO DO. I do not know what tests to have done, have been trying to get into genetics for over 3 months and still do not have appt. Very limited on genetics in my area, that is one of the problems. No dr can give me any idea where to begin. Please direct me. thank you so much. Oh mother (me) has rare uterine didelphys. |