Ten years.  One decade.  It is amazing how much has changed in the world in some ways and how so little has in others. 

Nikki was diagnosed with Glutaric Aciduria Type 1 10 years ago this week.  She just celebrated her 10th birthday.  She swam in the pool, jumped on the trampoline, broke the piñata, and threw water balloons, right aside of all her 4th grade friends.  She brought home good grades and participated in dance, voice, tennis, and saxophone lessons.  She won the citizenship award two years in a row.  She generally sticks to a vegetarian diet (by choice) but does occasionally choose salmon, scallops, or shrimp for her main course.  She suffers no apparent ill effects from small amounts of concentrated protein and we no longer treat her diet any different from her sisters.

She does take her carnitine and calcium pantothenate in her morning juice every morning and I do have to remind her that she has this “disorder” and needs to be thankful for each and every day.  Due to the tireless work of people like Dr. Holmes Morton and the staff at the Clinic for Special Children, the members of OAA, Save Babies through Screening, and so many other organizations, Nikki does not have any memories of ever being “sick.” The only time we really notice a difference between our two girls is when Nikki gets a fever.  It seems to affect her more than her sister and Nikki’s fevers only respond to Motrin.

For those of you who are not familiar with Nikki’s story, I will recap it.  Nikki was born in June 1997 with a normal midwife-assisted delivery.  She nursed well and seemed to be thriving just as her older sister had done. We opted to have the expanded newborn screening test taken as it was only 3 additional drops of blood and $25.   On day 13, we received the call that would change our lives:  Nikki had GA1 and needed immediate medical attention.  We were referred to Dr. Morton at Lancaster General Hospital.  Nikki’s diagnosis was confirmed and she was started on valium and L-carnitine.  I was insistent that Nikki continue to be fed breast milk and Dr. Morton agreed if I would pump so we could measure her intake. I did-- for the next 17 months.  Nikki never received formula.  When I was no longer able to meet her needs, we weaned her to Rice Dream enriched which she drinks to this day.  We counted every calorie and every gram of protein she ingested for the first 2 years of her life, keeping charts and records.    She met every developmental milestone on time (except speech as her very verbose 3 year old sister spoke for her so there was no need.)

At 16 months, she had a set back with a subdural hemorrhage from a very minor fall.  The neurologist at our local hospital (where I happen to work as a PT) intimated that it followed the signs of abuse; however, nothing came of that passing suggestion.  We were lucky!  Nikki was taken by Medivac to Lancaster and once again, Dr. Morton took part in a miracle.  Her bleed extended while in the hospital, mimicking a stroke with hemiplegia.  Dr. Morton used Decadron to help decrease the cranial inflammation and Nikki walked out of that hospital without any sign that she had a setback.

We have continued to visit Dr. Morton on a yearly basis.  I think he continues to be amazed at the why and how Nikki came through all this without a trace of the effects of GA1 when so many other children, even those who were fortunate enough to have been screened, have suffered setbacks. 

As I said, so many things have changed:  more states are including expanded screening tests for newborns including that for GA1, treatment protocols are improving, and equipment and treatment for those injured are becoming more accessible.  However, it does sadden me that even one child with this disease or the hundreds of other metabolic disorders will die or become injured because screening is not available to them.  Like Nikki, they may appear perfectly normal on the outside.

I believe Nikki’s story is a small beacon of hope to families who have received the crushing news that their child may have a life-threatening illness.  Over the years, I have been contacted by families from England, Alaska, and California to name a few, who have read our story and gained a bit of hope:  so many of the stories out there have tragic endings.  I have also received emails from teenagers who have happened upon her story on the internet and have ended up doing research or community outreach projects for school on newborn screening and from one girl who just happened to be looking up hits on Google on her own name and was touched to learn of our “miracle child.”  Nikki has been attracted to angels since she was very little.  I am convinced that she has had several guardian angels throughout her life.  Keeping Nikki healthy was our full time commitment from the day she was born. Looking at this beautiful 10 year old, we know that every sacrifice has been worth it.

My hope is that in the next decade, every child will be screened and more can have the life that Nikki has been fortunate enough to lead. 

Carrie, Ed, Katya, and Nikki Hrichak

3961 Notre Dame Court

Bethlehem, PA 18020  

610-867-0599

carriened@rcn.com

Read Nikki's previous story in OAA Newsletter here.