Markie Noah

We would like to introduce our son Markie, age 6. When Markie was born, we did not know that he had a syndrome. My pregnancy had produced a Triple Screen with abnormal results, but otherwise it was uneventful.  Our first clues that Markie had SLOS were the shape of his hands, the pushed up nose, the heart condition they diagnosed before we left the hospital, and the mild ptosis in his eyes. As Markie grew, he also did not hit growth/developmental milestones like our other kids did. By 3 months, I was very concerned and although he had the symptoms/characteristics listed below, Markie was not flagged by our medical community until our ENT finally sat down and listened to my concerns and referred us to a geneticist at 11 months of age. Sadly, the North Dakota geneticist suspected SLOS, but the Mayo Clinic (in error) ruled it out, despite mildly positive test results. I’m not sure they had seen a milder case of SLOS at that point – one in which Markie’s cholesterol level was relatively normal (120’s – 140’s) combined with a very mild 7DHC level (2.4 – 3.0). We sat at “undiagnosed” for another 18 months until I reviewed again some past SLOS newsletters. In them, I found a family who had a biochemically MILDER child than Markie. With a tearful call and new advice, I had Markie re-tested for SLOS by the Kennedy Krieger Institute and positive results were found. 

Good news is that the older Markie gets, the easier life gets for him.  I think many of the challenging symptoms (sleep issues/feeding issues) improve significantly with age.  At one point, my whole day centered around getting Markie to eat enough to bring his growth out of the “failure-to-thrive” level.  Now, he is in Kindergarten along with all of his friends, and although he has some challenges (frustration levels/perseveration issues/potty training still), he is doing great!

Markie’s SLOS symptoms:

• Mild mental impairment/global delays (cognitively/physically/socially)
• Pushed up nose
• Small stature
• Dwarfed fingers
• Congenital heart defect – aortic valve stenosis; open ductus
• Poor suck/nursing issues
• Almondy eyes/mild ptosis
• Penal deformity (hypospadius & cordae)
• Dysmorphic features
• Sensitivity issues: held hand over his ears for almost a year/ HATES loud & unexpected noises
• Mild 2 & 3rd toe syndactyly
• Head closure issues: head vertical ridge/bifid uvula/high palate/chronic ear infections ‘til tubes at 7 mo.
• Finger pads & single palmar crease (both hands)
• Sleep issues
• Off-set nipples
• Fair/sensitive skin
• Autistic tendencies (lack of eye contact, lining up toys, delay in speech, mild echolalia/parroting, perseveration issues/preoccupation with certain subjects, need for sameness/routines, unusual focus on pieces- ie. wheels on cars)
• Teeth problems
• Dimples on elbows bilaterally
• High frequency hearing loss (in the last few years)
• Bites on shirt sleeves & collars  (to the point of total saturation)
• Delayed bringing hands inline (like clapping)
• Behavioral issues
• Hypotonia (low tone)
• Small chin
• Picky eater/oral aversions (which have slowly improved with age)
• Sporadic red cheeks
• Sun sensitivity
• Needs glasses
• Has a NORMAL cholesterol level (only 10% have this) combined with extremely low 7DHC & 8DHC levels.
• 50% potty-trained at 6 yrs.

Despite all of this, we think Markie is a PERFECT kid!!! He is currently about a year behind developmentally and is working on reading, math and handwriting in school. He has made lots of friends - the kids at school… his teachers/therapists/doctors… stock boys at the grocery store… airport security personnel… and strangers on the street. Markie will hug you and greet you the same, “Hi, my name is Markie. Are you my friend?”  And everyone is! Other activities that keep him busy: Markie loves skating, playing HOCKEY and soccer, his 4 sisters, getting new permanent teeth, horseback riding therapy, playing in the snow, Pizza Ranch (who know him like Norm in Cheers) and watching hockey YouTube videos (esp. the Washington Capitals!).  He even named one of our new puppies Alexander Ovechkin?  Oh yes!  

FUNDRAISING:
Once a year, we celebrate Markie’s developmental improvements by hosting a WALK to benefit the SLOS Foundation. With the Markie Noah Annual Walk for SLOS, we have raised nearly $100,000.00 in 4 years.  (www.firstgiving.com/marknoahwalk2010) We have found it is a very easy way to raise money for research, helping the specialists find better cholesterol treatments for our children. 

For those who read this, who are just beginning your SLOS journey… take heart. Our best advice is to take things one day at a time… one symptom at a time. Fix what needs fixing and celebrate the littlest of milestones!  Try not to compare your child’s growth & development to standard growth & development charts. Rather, compare their progress to how far they’ve come.  Growth comes slow with our kiddos.  Be patient and keep your pediatrician in some form of contact with a SLOS specialist.  You’ll meet some amazing people along the way – forming friendships you’ll cherish and meeting families who seem like they dropped right off of your own family tree. The journey you walk on while raising a child with special needs may begin a little scary and uncertain. But you’ll fast find friendships you would have never had and community program & early intervention services that will help you to find the best path for your child’s future. We believe God chooses carefully when placing a Special child. We are blessed and honored he chose our family. 

With love,
The Noah’s