In the fall of 2004, our family received news that invariably changed our lives forever.  After months of exhaustive misdiagnoses and dozens of appointments to nearly every pediatric neurospecialist in Portland, Oregon--our fraternal twins, Taylor (girl) and Graham (boy) who are 27 months (born July 16, 2002), have been diagnosed with Metachromatic Leukodystrophy (MLD). 

 

Getting to the clinical portion of diagnosing this condition has been a very arduous process for several reasons.  Taylor was born first, without complication whereas Graham was born an hour and fifteen minutes later by emergency C-section with an Apgar score of 1. 

 

From that point on, both progressed normally until about 15 months of age at which point Graham was walking while Taylor was not.  However, at 18 months of age (January 2004), our pediatrician stated concern about both kids' motor skills/development--particularly with regard to gait and balance.

 

At that time, both children had MRI's as well.  Graham had an MRI while Taylor had an upper cervical scan of the spine to check for Tethered Chord.  Because of Graham's difficult delivery (and extremely low Apgar) it was thought that he probably had suffered some sort of lingering effects that might have left him with mild CP.  Taylor, on-the-other-hand showed very good coordination and fine motor function--but just did not yet walk.  Thus, doctors weren't nearly as concerned about her overall well-being/development because she appeared "normal" otherwise.

 

From that point, we started on our roller-coaster ride of diagnoses and misdiagnoses for the next six months.  At first, it was thought that Graham was Spastic Diplegic and Taylor was Ataxic.  Once we digested that information (which at the time seemed overwhelming enough) we got them immediately into physical therapy twice a week at two different hospitals in the Portland area.  Graham received AFO's which really steadied his gait and gave him great confidence walking.  Taylor still was not walking but was progressing nicely with her talking and fine motor skills.  Our doctors figured she'd just "come around when she was ready." 

 

In July of 2004, Graham in particular seemed to be losing much of the coordination and skill he had mastered previously.  This put up a red flag with our pediatrician who got us in touch with a developmental pediatrician specializing in difficult diagnoses.  She saw both Taylor and Graham together--and at first thought--remarked that they were both Ataxic Diplegic (which apparently is a very rare combination).  But, she also mentioned that they also could be afflicted with some rare condition like Dysequilibrium Syndrome as well.  This was first time that any doctor had discussed the possibility of an autosomal recessive disorder(s) with us.

 

It was at this juncture, after referring to specialists at the Kennedy Krieger Institute at Johns Hopkins, that we were told to repeat the MRI's for each child.  We were then sent to the Metabolic Clinic at Oregon Health Sciences University in Portland, Oregon.  That is when it was discovered that both Taylor and Graham had tested positive for "a signal intensity of the white matter" on both of their MRI's.  A week later they had a urine screening and blood test that showed a positive test for MLD.

 

 This, we were never quite prepared for....imagine receiving the news that you thought you'd never have to hear.  That said, we have picked ourselves up from our initial devastation and began trying to gather as much information as we can.

 

Despite their declining conditions, the twins continue to emanate a truly beautiful capacity to love and be loved with each passing day.  They vacillate daily between times of stability and utter pain and discomfort.  This has categorically been the hardest part of witnessing this condition first hand.  To see a child in pain and suffering is something that no one on God's earth should have to endure.  It is simply, in a word, heartbreaking.  However, even as their health has declined, just being with both Graham and Taylor on a daily basis continues to be a source of strength and inspiration. 

 

The twins are blessed by many friends and family, none more than their sister Braden who is two years older than them and their younger sister Rian, born three years after the twins.   Braden and Rian have received blood screen results and although show low level carrier status, they are--for all intents and purposes--MLD free.

 

 

Ian & Kirsten Olsen and Braden, Graham, Taylor, Rian