GARD, NIH, & ORDR

Genetic and Rare Diseases Information Center, National Institute of Health, and Office of Rare Diseases and Research.  What do these mean, well, I have contacted a Dr. Rubenstein and she guided me to GARD.  With GARD, I was to fill out a form to find any specialists in the area - meaning United States.  I can not find one that is not in the UK.  I am hopeful that this will be a positive find :)

Link to ORD, NIH, & GARD

EEG Experience

 Well today was fun. We were scheduled for an EEG.  The neurologist wanted her very sleep deprived - and she was just that.  We go there and they had put over twenty different wires all over her head then covered it.  She looked funny.  Then finally I was allowed to give her a bottle to make her sleep.  After she had slept for about 15 minutes or so and she was just snorring away, she had asked me to start waking her up.  We were both calling her name and then she started clapping her hands.  Could you imagine? She had also asked me to make sure she does not move her head while waking her up.  Then, she placed a small, adjustable light with a halogen strobe over her face - it was almost as bright as a police light - and started flashing at her while she was still trying to wake up.  If it were me, oh my, I would of been so mad.  Eva of course was crying.  After about ten different sequences of this light flashing, she got a washcloth and a towel and messaged the water/glue/tape out of her hair and said we could go.  Needless to say, she was still pretty tired.  But hopefully, we will get positive results back from this test.  Here are some pictures of her.

Testing Continues...

Today we took a visit to Peyton Mannings Childrens Hospital for an MRI, ultrasound of kidneys, and an echocardio test.  It was absolutle flawless.  We had to be there at 6:45am which was a bear since it is Scott's birthday.  On the great side, we were out of there before noon.  It was wonderful!  The nurse called me the night before to introduce herself and she stayed with us the whole time.  Before we left, the had given her a new unwrapped toy!  I will definately will continue to go there again.  Oh - and Eva could not of been an easier patient.  She fell asleep well with the anathestics, she cried only when the i.v. went in, and the two ultrasounds were easy.  I am only hoping that the results will be just as good.  :)

Seizure #2 - back in October

I had a thought today looking at Peanuts slight rash and using the ointment that was prescribed.  She had a seizure (febrial) on October 13th.  She still had the cast on and was breaking out in a rash her the backside region.  The second cast was much tighter than the first that was put on her in August.  Anyway, she had her seizure and was rushed again to the hospital.  The ER dr said that it was just a reaction to the rash, gave us amox and the diaper ointment, and sent us on our way - that was a Thursday.  On Monday, I went back to our Urgent dr because she still had the fever and she stated that Eva had roseola.  It was very treatable and actually in its last process.  Finally on Wednesday that week, the cast came off and the rash was actully caused by a chemical burn from all of the uhrine that was against her skin.  Trust me - I never felt so bad thinking that I could of prevented this rash but that cast was so ackward and tight you couldn't even get a diaper or pad inside of it.  On a positive note, the rash did clear up in three days after the cast was removed.  That was a happy day!
Here is a link to information about roseola.  It is ver common for all children to get it before kindergarten. 

Roseola Information

Nebraska to the Rescue - possibly

Talked to Sarah - genetics counselor for the University of Nebraska Genetics Center.  She found three families that she will be contacting.  These families also have a child(ren) that have C17q21.31.  I can only hope that Sarah will sound as pleading and sincere to get these other people to keep in touch with.  I also found out that there is a National Forum of Genetic Counselors.  They can send out an all e-mail to all counselors to assist with abnormalities, references, information, ect.  Nebraska has been the most useful staff I have dealt with.

University of Nebraska Medical Center

An IU West Experience...

12/8 - I was scheduling an appointment for Eva to see the Dr due to a slight fever the night before.  The pattern is so common - slight fever, runny nose for 3 days turning into a bad cough leading to the nebulizer and some other type of amoxicillian - all this lasts about eight days.  After convincing the dr for a script, the computers were down at the pharmacy and we did not go p/u until after 4pm.  In the drive-thru line, Eva was having a full blown seizure.  This one was different than the previous ones.  Her lips and eye lids turned blue, she was shaking her arms, hands, and legs and bubbling at the mouth.  This all lasted through the nurse practioner coming outside and finally the ambulance medics.  She was rushed to the hospital - still seizuring.  After I arrived about 15 minutes later, the medic stated that she had just finished her seizure and they were trying to control her 105 temperature.   While there, they took a chest x-ray (side and front), at least five different blood samples, and I denied a uhrine sample.  I felt it just wasn't worth that pain again.  After seeing the ER dr, he stated that this was yet another febrial seizure and to send us on our way after her fever was under control - four hours later.

Our Adventures

This is an online Journal about our family, especially our youngest daughter, Eva, aka Peanut.  She was born on June 22, 2010.  She was born 4 weeks early because of prenatal complications.  All seemed fine in the hospital since we were home in two days.  In December of 2010, she undergoed a double hernia procedue.  All was well.  Her growth was not as strong as our other daughters.  She seemed small and weak.  Not progressing as she should.  We then received assistance from First Steps - Great People and Staff - highly recommended.  The therapists did not think her hip sounded normal.  We went to get an x-ray and sure enough she had hip dysplasia.  On August first, she had her first full body cast and lasted for 14 weeks.  Now we are back on therapy and had more testing done due to her developmental delays.  After blood work, our daughter has been diagnosed with C17q21.31 microdeletion syndrome.