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Welcome to our site.  My name is Lori and this site is dedicated to my twin daughters Roni & Adena.  Adena has a rare genetic condition called Nijmegen Breakage Syndrome.  Please check back here often as I continue to update information on this page.  Thank you for stopping by and please don't forget to sign our guestbook.
This is Roni and Adena.  They were born in June of 2000 after a pretty eventful pregnancy.  At 30 weeks I went in to preterm labor and then again at 32 weeks.  At 34 weeks my water broke and they had to be delivered (28 hours later).  When I was about 23 weeks pregnant I had an ultra sound that showed that Adena's head was not as big as her sister's and not the size it should be for her gestation.  This started one big emotional roller coaster ride.  We were told everything from "she could be just fine but unlikely" to "she may be disabled to the point that she would not survive outside the womb".  I was devastated to say the least.  Could I really lose one of my babies?  The doctors could not tell me what was going on or why this happened.  An amnio was performed to check for Down Syndrome.  That test came back negative.  However, a strange thing had occured with her chromosomes.  When the chromosomes broke they did not come back together normally, they came back together in disarray.  The doctors were not sure what was going on at that point.  We all agreed that no more testing would be done until after delivery.

When I was deliverying my beauties Roni came rip roarin' out - she was ready to face the world and had been trying to do so for 4 weeks prior to this.  Adena was not so ready.  She was born breech and had to be resuscitated.  When I heard that doctor yell "page ped's code blue" it seemed that time stood still.  My heart was in my throat.  Finally, we heard her cry and it was at that moment that I knew she was going to be a fighter and though our road was going to be long and hard that we would manage ok. 

Roni and Adena both had issues with their sugar levels when they were born and both had to have an ng tube for awhile.  Roni actually came home with hers still in, Adena had hers in for about 1/2 the time that Roni did.  They both also had reflux.  Adena was seen by many specialists when  she was born.  And to be honest, although her head was much smaller than average she didn't have any worse issues than a typical preemie.  Roni and Adena were in the hospital for a total of 19 days.  Once they were home we had some home nurse visits and early intervention visits.  They were "kicked" out of early intervention after just a couple of weeks as they were developing on target.  Mommy's
mind was a little more at ease.

As they continued to grow they met and exceeded their milestones.  Things were going really well.  We had many visits to the genetics doctor to try to find a diagnosis for Adena.  The next test was for
Fanconi Anemia.  When they did the test for this, her chromosomes did the same thing as when they tested for Down's.  However, this was not typical for Fanconi so they asked for a skin biopsy which we allowed.  Still no definite diagnosis.  That is when the genetics team decided we should test for Nijmegen Breakage Syndrome.  I knew in my Mommy gut that we would get a positive on this one.  Everything just "fit".  Although, I still wasn't ready to actually hear it when I got the call that told us it was positive.

Adena currently see's a neurologist and immunologist every six months to monitor her progress and her blood counts.  She has low blood counts but has, luckily, been very healthy (knock on wood).

Both Roni and Adena are doing very well and keep me on my toes.  As I type this, I sit here totally amazed.  Tomorrow is their 4th birthday and I just can't believe how grown up they are getting (3 going on 30).  They never cease to amaze me.  I just sit back every day in awe of them and I thank God everyday for them.  They are my heart and soul.  And the love I feel for them is like no other that I have ever felt before.
Update  January 15, 2005
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