We are John & Melissa Gallagher and we’d like to tell you the story of our son, Carson, who was born in March, 2005. His diagnosis of Smith-Lemli-Opitz came only days after he was born, but telltale signs that something was wrong had surfaced during my pregnancy. At my 20-week ultrasound, Carson started slowing down in growth, and remained about 2 weeks behind in growth compared to my due date. He hardly ever moved…it was more of a shock to me on days when he did move rather than the opposite. Only one kidney could be detected during a later ultrasound, which was heartbreaking for us.
My amniotic fluid levels were getting low as I approached my due date. My doctor suggested an amniocentesis to rule out and chromosomal abnormalities, but everything came back 100% normal (we breathed a sigh of relief) and…we found out we were having a boy! Because he was breech, I delivered Carson via a scheduled c-section. We were expecting a small (around 5 lbs) baby with one kidney and knew he’d be taken to the NICU for observation. However, his complications after birth were many and as we later found out, a result of his diagnosis of Smith-Lemli-Opitz syndrome. The neonatologist suspected SLO right away, and a blood test sent to the Mayo Clinic confirmed this 10 days later. Carson’s sterol cholesterol at birth was 28. His 7DHC was 14. He was started on a synthetic cholesterol supplement before he came home from the NICU. We had no idea what a diagnosis of SLO meant for Carson our how our lives would be affected. What we did know is that we loved our son very much and would do everything we could to give him the best life possible.
Carson was born with many different SLO characteristics / abnormalities. Several are listed below:
- Atrial Septal Defect (ASD)
- Moderate/Large Patent Ductus Ateriosus (PDA)
- Mental Retardation
- Micrognathia (small jaw)
- Retrognathia (recessed jaw)
- Cleft Soft Palate
- Bifid Uvula
- Extremely Arched Nasal Palate
- Bilateral Hip Dysplasia
- Ectopic Left Kidney
- 2-3 Toe Syndactyly
- Small Thumbs
- Fifth-Finger Clynodactyly
- Low-Set Ears
- Dysmorphic Facial Features
- Inability to Feed Orally
Soon after we brought Carson home, our lives were filled with endless doctor’s appointments. Our heads were spinning at the number of specialists we had to see and it was very disheartening to know that most, if not all, had never heard of SLO or seen a child with SLO. We learned all that we could online and from our wonderful support group. We ended up being the ones who taught many of the doctors and they were happy to learn along with us. One of the most difficult things to deal with was (and still is) the surgeries and hospitalizations. Carson started out with open-heart surgery when he was 4 months old, and since then he has had a total of 10 surgeries to help correct various parts of his little body. He comes through everything with a positive attitude and a smile!
Now, at nearly 5 years old, Carson is a very happy, healthy, energetic, and playful little boy. He is small for his age (34 lbs, 36”), but growing well. Carson has responded well to the cholesterol therapy; his most recent sterol cholesterol=110, 7DHC=12 (he receives two egg yolks each day in addition to his synthetic cholesterol). He is non-verbal, but that does not mean that he doesn’t use his voice (which can be loud at times)! He is starting to make various letter noises and uses his voice in his own way to get our attention. Although he does not speak, he knows several signs and understands most of what is said to him. He has a feeding tube, and we are continually working on having him taste new flavors and textures. Carson is just learning to crawl and will walk when someone is holding his hands. He is very aware of his surroundings and in many ways, he’s a smart little guy. He is involved in many therapies, including horseback riding, swimming, speech, occupational therapy, physical therapy, and music therapy. Carson attends a local school for special needs children. He loves school and especially loves riding the school bus! He has many friends at school and his teachers adore him. Carson has a wonderful smile and loves to laugh! His favorite toy ever? The Helium Balloon. Carson has many toys but he loves his balloons!
Initially, his diagnosis of SLO left us shocked and saddened. Still, we worry for his future and do our best to give him everything he needs. Five years later, we are enjoying life and embrace all that Carson has taught us. Progress in all areas has been slow and there are many milestones he has yet to hit. Rather than focus on what he can’t do, or what is missing in his life, we take great joy in watching him make small strides in many areas and cherish the many achievements he’s made.