Tag Archives: doctors

Josephine’s Symptoms

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OK.  We are done with all the tests to determine how Josephine has been affected by Tetrasomy 8p.

As of December 30, 2009, here’s where we stand so far..

  1. Hypoplastic left first rib
  2. Assymetry of left side of rib cage – ribs flair out
  3. Agenesis of the Corpus Callosum
  4. Hypotonia
  5. Speech delay – at 16 months old, her developmental age is 6 months
  6. Cognitive delay – developmental age is 7-8 months
  7. Gross motor skill delay – developmental age is 6 months
  8. Fine motor skill delay – developmental age is 6 months
  9. Pelvic kidney on left
  10. Failure to thrive – recent weight gain was 3 oz. in 4 weeks (1/2010)
  11. Prone to future seizure activity
  12. Epicanthic folds on eyes
  13. Flat bridge of the nose
  14. Slight cupping of the ears
  15. Trigger finger on right index finger
  16. Exotropia of the eyes (mild case)
  17. Retnal development is good and not affected
  18. Excellent heart, lungs and liver
  19. PERFECT IN EVERY WAY!

First full day at the hospital

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What a day today!  Josephine had a few tests done to check her organs and bone structure.

Great news – her heart is fabulous and beautiful!  So the Tetrasomy 8p has not affected that at all!  Such a relief.  The pelvic and abdominal ultrasound were also positive and showed nothing unusual, other than her left kidney is located in her pelvic region instead of in her back.  But it is functioning properly and is a normal size for her age.

We are still waiting on the skeletal scan results, but the doctors tell us that no news is good news, which is also a relief.

Since we had to cancel Josephine’s 1st birthday party, we decided to bring the cake to the hospital for the doctors and nurses to enjoy.  And boy did they enjoy, as did we!  Even the birthday girl had a few bites.

With all of the excitement, Josephine was pretty worn out and took a relaxing nap, giving me a time to relax as well.

Although we were in the hospital, I know our Birthday Princess had a great day and fun celebrating!  Life is a gift and we are thrilled to have Josephine in our lives!  We love you!