RobertsFamilyBlog

We haven't had a computer since Monday, so I have not been able to update this!!! I am now at Scott's office posting a quick update while the kids are swimming.
Wednesday was Kahlia's appt. with a Geneticist. It went well, just informative on what we are looking at long term. She has a 50% chance of passing along this chromosomal defect to her children - it is a partial deletion of the 22nd chromosome. One is fine, the other has the defect. It is a flip of a coin on which chromosome "comes forward". She will have to decide based on her life and how she has "coped" whether she wants to take the chance of passing it on. It is this chromosome deletion that caused both her heart defect and cleft palate, but some with DiGeorge Syndrome do not have these defects - each child with the deletion has a unique "grouping" of what they refer to as "syndromes". Hard to explain, but that's it in a nut shell. Because Kahlia's oxygen sats were low last week at Dr. McKelvey's office (68-72%), the Cardiology dept. decided that since I was coming in anyway for the Genetics appt., that they would go ahead and take her vitals and page her doctor with results. At Doernbecher, she was 70-71%. They have increased her heart medicine AGAIN to help with the oxygen sats - it seems we are running out of options....
On Wednesday, she had her ESD evaluation. Because she does not sleep in the car AT ALL, she had a rough couple of days of traveling, and definitely not getting all her sleep. For the first time in MONTHS, she fell asleep on my lap in the middle of the appt. Not good when they are trying to evaluate her!! So, she slept for about 30-40 minutes while the speech therapist asked me all the questions she could, then we had to wake her up to do her testing portion. Her evaluation was with toys and what she could do with them. The physical therapists came in for about 10 minutes to meet her, and set up an appt. for Monday morning at our home for them to do their full evaluation in her own environment. After that, they will call and set an appt. to meet about the results. We will find out what her developmental age is, and exactly how much therapy we are looking at. This is such a long road....but we're heading in the right direction. Just in the last week or so, Kahlia has started to actually crawl on her hands and knees - that has been so good to see! She only goes a short distance before she falls on her tummy and "scoots" the rest of the way, but it's a step (crawl) in the right direction! :-)
That's the update for now - hopefully we'll get our computer back soon...thanks for all your prayers.