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Nikki Elizabeth PDF Print E-mail

Nikki was born on June 2, 1997 after a quick and uneventful labor.  She nursed right away and after just a few hours we were released by the midwives to come home.  She was seen in the home for her 24 hour check up and our midwife took the state mandated blood work.  She then asked if she could draw 3 additional drops of blood for an expanded newborn screening test.  Although I had declined nearly every test during my pregnancy, I consented to this test.  It was explained to me that it was not mandatory and that there was a good chance my insurance would not cover it.  Blue Cross did not cover it, but we were soon to find out it was the best $25 we ever spent!

On Nikki’s 11th day, we were out shopping with our older daughter and returned home to find a series of urgent phone messages regarding the health of our apparently perfect daughter.  We went to our pediatrician who explained that Nikki had a very rare genetic disorder and we could go to either Children’s Hospital of PA (CHOP) or to Lancaster General where we would meet Dr. Holmes Morton.  As my parents were originally from Lancaster and I still had family there, I chose Lancaster .  The pediatrician made a call to Dr. Morton and he explained what we would need to do.

Nikki was retested for GA1 with blood and urine samples which confirmed her screening diagnosis.  I was told I would no longer be able to breast feed:   something I felt very strongly about.  However, in the end, Dr. Morton consented that I could continue to feed her breast milk, as long as it was pumped and measured.  My family ordered a double breast pump and for the next 17 months, I pumped my milk for Nikki.

Nikki progressed well, with few signs that anything was wrong.  Her circumferential head measurements were larger than normal and Dr. Morton found that her reflexes were slightly more pronounced in her left ankle.  As a physical therapist, I am sure that I worked with her on developmental progression, but never did so as a scheduled activity.  She rolled, sat up, and walked within the normal time limits.  Her speech was a bit slowed, but I still attribute that to a very verbose older sister, not to her disorder!

Everything progressed well and except for a daily log kept of everything she ate or drank with daily protein and calorie counts, and supplements of carnitine and calcium pantothenate, she was treated as normally as her older sister.  However, when she was 15 months old, she slipped off her rocking horse onto a padded carpet, and ended up unconscious with a subdural bleed.  She was rushed to our local trauma center where the doctors, many of whom I had worked with for many years, intimated that her injury was consistent with child abuse.  Fortunately, they did not pursue this avenue of thought.  The medical students joked that they needed to brush up on their genetics as they had never seen anyone with GA1, and though we had Nikki’s sick day regime from Dr. Morton, it became evident very quickly that where Nikki needed to be was at Lancaster General.  We were taken by Medivac Helicopter to Lancaster , and I can honestly say that I was never so relieved to see someone in my life as seeing Dr. Morton when we landed.

He ran MRI’s which confirmed the bleed.  While in the hospital, she spiked high fevers and became very irritable.  Dr. Morton researched and finally tried Decadron, a neurological anti-inflammatory, which seemed to finally stop the fevers and headaches.  She was in the hospital for 12 anxiety filled days during which her bleed extended, mimicking a stroke.  But finally, when we left, Nikki was walking again and seemed to have suffered no permanent damage from the event. 

Now, nearly 9 years later, Nikki is preparing to graduate from elementary school with her friends and classmates.  She plays piano and saxophone and dances.  She is an incredibly sweet, outgoing child.  At this point in her life, she still receives her carnitine and calcium pantothenate in her morning juice, but we no longer watch her diet.  She tends to like a primarily vegetarian diet with lots of fresh fruits and vegetables and whole grains, but does eat at least one meal of seafood each week without apparent problems.  We try to keep her away from sports that might place her at higher risk of head injury, but encourage her to live her life, every day to the fullest. 

Not a day goes by that we are not thankful for our midwife suggesting NBS, for Dr. Morton and the wonderful staff of the Clinic for Special Children and the staff of Lancaster General Hospital for getting Nikki to this point.  She has always loved angels and we are convinced that Nikki has had a guardian angel with her since the day she was born.

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Carrie and Ed Hrichak

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