Genetics - March 24th, 2006

We followed up with Dr. Uhas at Scottish Rite for our genetic concerns for Maggi. Dr. Uhas examined Maggi from head to toe so that she could note all of Maggi's "syndrome like" features.

Naturally, blood work will need to be done, as well as a few other tests. Dr. Uhas noticed quite a few characteristics and noted them. Also, she took some pictures of Maggi to hang up in her office to review daily.

Maggi definitely shows signs of a syndrome. Which one? Only time will tell after all of the blood work is sent to Philadelphia. It usually takes 6 or 8 weeks.

Maggi not only has CRANIOSYNOSTOSIS, PLAGIOCEPHALY, DEVELOPMENTAL DELAYS, SCOLIOSIS, and REFLUX...she also has the following physical characteristics:

1) Deformed Thumbs (they are "finger like")
2) Deformed Toes (her big toe almost looks "jammed" into her foot...hard to describe)
3) Tear Duct is outside of her Left Eye (it is actually on her skin, underneath her eye)
4) Right Leg turns inward
5) Joints Pop
6) Possible hearing issues in the right ear

Only one syndrome was mentioned, naturally it is a "shot in the dark"...but we are going to just wait for testing. Dr. Uhas has recently seen a couple of children with the "Levy-Hollister" Syndrome and they have some of the same deformities as Maggi. Two of their major issues are kidney and heart problems. Dr. Uhas ordered testing for Maggi's heart and kidneys to be on the safe side. WHICH WE TOTALLY AGREE WITH.

UPCOMING TESTS - April 13, 2006
Ecocardiogram
EKG
Renal Ultrasound
Blood Work for Genetic Testing

UPCOMING DOCTOR VISITS
Opthomology - April 4th, 2006 (Maggi is having problems with Right eye)
Orthopedics - May 18, 2006 (follow up on Scoliosis)