Alexis “Lexi” Black

Alexis “Lexi” Black was born in April of 2007. I had a wonderful pregnancy, with the exception of an abnormal AFP screen and the fact that the baby measured about 2 weeks smaller than expected. After a Level 2 ultrasound showed nothing unusual, we were very excited to welcome our baby girl into the world. Lexi was born at 37 weeks. Of course to us she was perfect, but the nurses noticed right away that Lexi had syndactyly of the 2nd and 3rd toes on both feet. This did not alarm us, because Jason also has the webbing on one of his feet. Lexi spent 3 weeks in the hospital, enduring numerous tests and screens. She was diagnosed with a bicuspid aortic valve, microcephaly, and a weak suck/inability to nurse. Since she did not eat consistently, Lexi came home from the hospital with an NG tube for feeding, which we removed at 5 weeks of age when she began to consistently take her bottle.

At ~1 month of age, we visited a geneticist who told us that Lexi could possibly have Smith Lemli Opitz Syndrome. After the blood draw to test for SLOS, we waited patiently for a very frustrating phone call that ended with “we aren’t sure”. Apparently Lexi’s 7DHC level was elevated, but not high enough for the doctor to feel comfortable giving a diagnosis at that point. We were not told Lexi’s initial sterol cholesterol number, but we understand that it must have been “normal”. Ultimately Lexi was diagnosed with SLOS at 5 months of age, and it was then that she began cholesterol therapy. The first year of Lexi’s life was filled with doctor appointments and uncertainty of what to expect, but Lexi continued to meet milestone after milestone, and her therapists were pleased with her progress. Lexi received physical and speech therapy, and she also worked with a Developmental Specialist and a dietician.

Lexi has/had many of the typical SLOS characteristics:

  • Microcephaly (small head)
  • 2/3 toe syndactyly on both feet
  • Mild ptosis of the eyelids
  • Heart defect (bicuspid aortic valve)
  • Micrognathia (small chin)
  • Slightly upturned nose
  • Constipation – Lexi is given Miralax to regulate her digestive system.
  • Reflux (resolved around 12~18 months of age)
  • Failure to thrive as an infant
  • Chronic ear infections – Lexi has had 3 sets of ear tubes placed and her adenoids removed.
  • Eye problems – Lexi is far-sighted and has worn glasses since 15 months of age.
  • Hypotonia (low muscle tone)
  • Bifid uvula
  • High palate
  • Small stature
  • Pronation of feet – Lexi wears orthotic inserts in her shoes to correct this.

Today Lexi is a very active, sassy, and overall healthy little girl who loves playing with her dolls/stuffed animals and anything outside. Everywhere we go we are stopped by strangers who comment on how small and cute Lexi is and ask us if she was a preemie. To someone who doesn’t know any better, Lexi is just a normal kid who is small for her age. She talks well, runs, climbs, jumps, and gets into anything she can! Lexi participates in a therapeutic horseback riding program, which she loves, and she also takes ballet classes and loves to kick around soccer balls. Lexi recently became a big sister, and she adores her baby sister and loves to help take care of her. She enjoys most Disney, Nickelodeon, and PBS cartoons.

Lexi currently receives cholesterol supplementation via an aqueous cholesterol suspension. She continues to eat well, although in small quantities sometimes. She currently weighs ~26 lbs and is ~38” tall. She attends a private preschool in a class with typical kids her age. Although she did qualify for the county’s special needs preschool program, she will not receive any therapy services this year. The coordinator will just “check up” on her.

Thanks to the help of Markie Noah’s family, we have celebrated Lexi’s achievements each year by hosting a walk to benefit the SLO Foundation. It is a great way to raise funds for research that will ultimately benefit our kids, and as Gretchen Noah mentioned, it is very easy!

As many families have already mentioned, it is best to focus on what your child CAN do – celebrate the little things! Our kids seem to be the most lovable kids, and we are so blessed to have been chosen to love them and care for them. We truly believe that God chose all of us to go through this together for a reason. The families in this SLOS network truly support each other, and it is such an honor to be a part of it.