Morgan Gardner

We are John and Michelle Gardner of Rochester, New York and we’d like to share our story about SLO and our beautiful daughter Morgan. Morgan was born December 28th 2001 and we did not get a diagnosis until she was 11 months old. The night Morgan was born she was an 8 lb. 6 ounce 21 inch healthy baby girl. We questioned why her two toes on each foot were stuck together but the doctor reassured us and said “that someone in your family must have this trait and that it is nothing to worry about,” we dismissed it (little did we know how monumental this seemingly harmless trait meant to getting a diagnosis in the year to come).

Morgan struggled to feed in the hospital; the nurses were passing her along to the “more experienced” nurses to see which one could get her to eat. If she did eat it would projectile within minutes across the room (another major red flag to SLO). They pumped her stomach thinking she may have swallowed barconium. We had to stay two additional days in the hospital but when she ate 2 ounces and kept it down they felt that she was fine and discharged us. Upon having her at home we fear further that something was very wrong. Morgan continued to struggle with eating; taking hours to eat 1 to 2 ounces, she screamed for hours on end, only slept for 20 min. intervals and was extremely constipated. We made many trips to our Pediatrician who noticed her inability to flex her legs open (another SLO red flag; muscular weakness) a typical range for a newborn and ordered an X-Ray (which came back that she was OK) he also prescribed Reglan and Prilosec to deal with her throwing up and Reflux.  We were told that many infants have Reflux Disease because the esophageal muscle is sometimes not fully developed and that many out grow this difficulty.

We countered with the extremeness of her vomiting but that didn’t change the opinion. As Morgan’s parents we were frightened, Morgan wasn’t a typical infant, having had our son, we felt that something more was going on with her. One evening Morgan’s abdomen was very bloated and she was screaming with such extreme that we went to the emergency room. The X-ray showed that her colon was filled with air and they felt that she was having gas pain. Morgan was put on regime of gas drops. Morgan was not meeting typical milestones, at three months she still wanted to be wrapped like a mummy and would only sleep with the motion of being rocked.  She would only let me (her mother) hold her, if anyone tried she screamed. The scream was always ear piercing. At this point, I was sleep deprived, worried beyond belief and felt an unbelievable sense of despair for my baby.

When she turned 6 mo. old and her stomach issues had not yet resolved we began what would seem like an endless tour of specialist, our first was seeing a Gastroenterologist. He continued the medications and we had two test that involved feeding Morgan nuclear radiation liquids to show the flow of food throughout her body and to rule in/out the need for surgery for her esophagus. He also began treating her constipation with Miralax.  At this point no one is speaking of a syndrome or anything that Morgan will not out grow.

I can’t express the emptiness I felt putting my tiny baby on those large testing tables and praying with every grain of my being that she was ok, knowing the truth deep within my heart. The constipation was a huge issue, requiring adjustments to the Miralax (We would learn that her constipation and motility issues were another very common SLO symptom), dealing with everything from explosive bowl movements to long nights of screaming pain and warm baths to help her go, many times a week we gave her suppositories as a last resort. During this time her blood work showed an irregular thyroid, she was referred to an Endocrinologist who put her on a medication for hyperthyroidism. We were told that this was yet another thing that many children have and she may out grow.

By eight months Morgan was not sitting up independently, she could barely turn over and still kept her hands clenched closed. Her Gastroenterologist referred us to a Developmental Pediatrician. He told us that in 20% of the cases a diagnosis is not found to explain the developmental delays but that he would see this through and work to help us get answers. It was the first confirmation from a medical professional that validated what we had always felt, Morgan needed help and that something was very wrong. He mentioned Diencephalic Syndrome as a possibility due to Morgan’s failure to thrive diagnosis and ordered a battery of tests. One of which was a CAT Scan of Morgan’s brain. As any parent would do, I went right to the internet and looked up this new foreign word. To my horror I learned that it is a tumor on the base of the brain and children rarely live beyond the age of two.

The day came for the CAT Scan and on Thanksgiving day of 2002 we learned that Morgan did not have Diencephalic Syndrome, it was something to truly celebrate. However, this news meant that we were still undiagnosed and Morgan was still struggling. Each day was a battle to have her eat, go to the bathroom and make her comfortable. We had started Early Intervention to address her developmental delays, therapist were in and out of the house four times a week. We had an Occupational, Physical and Speech therapists seeing her, trying to do all that could be done for her. The Developmental Pediatrician thought it best to see a Genetic Doctor and that is where our story both ends and begins at the same time.

Morgan was tested and confirmed to have Smith-Lemli-Opitz Syndrome. Again we ran to the internet and again we were horrified to read the statistics and characteristics of this devastating new word. We went through another series of tests to rule out heart and organ problems. Fortunately, Morgan does not have issues with her heart or organs. We vowed that we would do everything and anything to find a cure. Our journey began with the RSH | SLO Foundation. We connected with the group and began our dedication to fundraising and bringing awareness to SLO. We have done several pancake breakfasts, golf tournaments, and the most daring…my then 59 year old mother-in-law biked 400 miles from Rochester NY to Boston MA (Morgan goes to the Boston Children’s Hospital for treatment of SLO and has since she was diagnosed) raising $16,000 for SLO research.

Morgan’s SLO symptoms are listed below:

  • Microcephaly (small head)
  • Apparently low-set ears
  • Small, upturned nose
  • Webbing between 2nd and 3rd toes (syndactyly)
  • Blepharoptosis (drooping eyelids)
  • Micrognathia (small chin)
  • GERD (Gastro Esophageal Reflux Disease)
  • Slow motility (digestive system is severely compromised)
  • Abnormally small stomach size
  • As an infant: poor suck reflex
  • Constipation (Hirschsprung Disease was ruled out through a biopsy)
  • Teeth issues (not enough room for adult teeth to grow within her mouth)
  • Small stature for age group
  • Overall muscular weakness
  • Severe pronation of feet (wears corrective orthotics)
  • Sensory integration issues | Autistic Tendencies
  • (struggles with: transition, new situations, being in crowds, loud noises, meeting new people, stepping outside of routine, unexpected changes, etc…)
  • Sleep issues (has improved with age)
  • Mentally delayed (learning disabilities: processing speed, short and long term memory issues, writing, abstract concepts like Mathematics, etc…)
  • Physically delayed (struggles with: balance, typical skills such as running, jumping, walking long distances, riding a bike, etc…)
  • Eating issues (orally fed, very picky, will only eat certain foods and reluctant to try new foods, must take supplements to off set her lack of required caloric in take)

Today Morgan is a happy 8 year old little girl who endears the hearts of all those she comes in contact with.  She is in the second grade, mainstreamed into a regular educational classroom with the support of an aide.  She still receives the services of an Occupational and Physical therapist.  She is pulled out for mathematics and ELA support.  Morgan enjoys therapeutic horse back riding and competed for the first time this year in the Special Olympics for Equestrian Riding.  She won two gold medals and one silver medal.  We often hear, “Morgan looks so healthy, you would never know…” which is comforting to some degree but brings challenges in explaining to people why she cries so easily or why she needs so many medications or why she is small, etc…  Her disabilities are not as obvious to people therefore creating situations where we must navigate and explain her condition and other times just leave people confused.  I don’t think any parent would ever say that their child’s illness is a blessing but we have adapted to living with a chronic condition and Morgan is our miracle who gives back much more than she receives.  The best part of our day is Morgan telling us “you are the best Daddy/Mommy ever.”  She never lets a day go without saying “I love you.” Our lives are richer for having her and we will always be her biggest supporters.