Abigail Roberts
Abigail was born on February 22, 1999 and within days was diagnosed with Smith-Lemli-Opitz syndrome, or SLOS. Abigail has quite a few of the anomalies associated with SLOS, which is why she was diagnosed so quickly. From head to toe, Abigail exhibits these anomalies: microcephaly (small head size); mental retardation (developmental delay); ptosis (drooping eyelids); small, upturned nose; micrognathia (small chin), apparently low-set ears; failure to thrive (slow growth rate, small stature); heart defects (atrial septal defect in our case); microgastria (small stomach); gastroesophageal reflux; slow intestinal motility (chronic constipation, often chronic vomiting, slow digestion); ambiguous genitalia (she is technically an underdeveloped male, and males often have varying degrees of genital malformations and undescended testicles); and webbing of the 2nd and 3rd toes. Abigail also has hypertension, and is on antihypertensive drugs now, although I am told most outgrow this by age three. There are other defects that Abby does not have, such as cataracts, small or missing kidneys, or cleft palate.
I know this seems like an awful lot of problems, but Abby does quite well. Other SLOS moms told me that the first year is the hardest, and now that we are through it, things are definitely looking up! Abby is very tiny for a 14-month-old, only about 11 lbs. and 25 inches long, but she is healthy for having SLOS. She is developmentally delayed, and her skills are scattered throughout the developmental ages. She can pick up rattles and shake them and push buttons on electronic toys, yet cannot sit up without support for balance. She has been in therapy since 3 months of age for oral motor work since she had a gastrostomy tube placed at birth. She has progressed to eating up to 3 oz. of Stage 2 baby food at a time, eating two or three times a day, and has started taking sips out of a flexible cup (not a sippy cup).
She has also begun to bite down on the biter biscuits that I try to get her to chew on for her teething pain. She doesn’t put toys into her mouth to teethe; only her hands and fingers. She also chews on her hands or wrists when she is distressed. She does not like to have her feet touched, and especially dislikes getting her toenails clipped! She can roll over both ways, but prefers to lie on her back so she can arch her neck and "inch-worm" around the floor. She is very weak in her upper body, but she is close to commando crawling. She has also recently begun to bear weight on her legs in a stander (or walker), although she will need foot braces because her feet are inverted, or turned under like she is standing on her inner ankle bones.
She does not talk yet, although she understands what we are saying and will smile or gurgle or laugh in response! She loves to make growling and cooing noises and we could swear she has said, "Hi," before, once! I am learning American Sign Language in the hopes that she will pick up some of the simple signs to communicate her needs, since I have heard that even the kids that do learn to speak will not do so until around age 4 or 5 years.
Abby has such a sweet personality! She always tries hard in therapy, and seems to respond well to my praise. She is always happy when she is being held, and is an excellent cuddler. She enjoys her baby swing, her bouncer seat, and her walker, or will play happily in her playpen with her toys and rattles. She enjoys being read to, and really acts like she understands the stories. She has started to show her temper recently, by kicking her legs and screaming until she is red in the face, especially at bedtime.
Lots of these kids have difficulty sleeping, and dislike sleep. Abby woke me up every night at least once during an eight-hour period for the first 12 months. After that, I consulted a doctor to make sure she was comfortable, and then I had to let her cry a little for a couple of nights. After about a week, she learned to soothe herself back to sleep and now she no longer wakes up screaming. She sleeps about 8 hours straight and then will wake up in the early morning hours and play for a while before returning to sleep for a couple of more hours. She also usually takes an hour nap at around 12 noon. This is heaven to me, as the first year I was constantly sleep deprived. I have heard that a lot of these kids will start sleeping at a year old, but a lot of others have sleep problems all of their lives, so it may not be over with completely for us.
The hardest thing for me to take in the beginning was the inability of Abby to be orally fed. I would force her to take the bottle, after a few gags, and she would suck - just not sufficiently to get enough nourishment to sustain her. I have even gotten her to go as long as a week or so on all oral feedings and I wanted so desperately to get rid of that G-tube! After a few months of struggling, another mom pointed out to me that the G-tube is my "friend" not my "enemy." I had to come to accept the fact that Abby is unable to eat enough orally to gain weight sufficiently, and also realize that eventually, she probably will reach that point.
Until then, I have come to understand that the G-tube is like insurance: It guarantees that she will get her medicine when she needs it, and she will get her nourishment even if she is not in the mood to eat. I am happy now with it being there, because I feel in my heart that one day, she will no longer need it. It is okay for new mothers to try all they can and really work to get the kids over the gagging and defensiveness, because that will be useful in the future. Just realize that it will take time for all the hard work to pay off!
I guess I just want to say that there are a lot of struggles and hard times to go through with these children, but they are really loving children, and we aren’t even sure yet of what possibilities they can achieve! With cholesterol treatment, the future looks brighter than before. One of the best aspects of SLOS is that it is a true metabolic disorder and can be diagnosed with a simple blood test. I hope that somebody out there will benefit from reading this information.
