Jennifer’s Story

Jennifer was diagnosed within two weeks of birth in 1974 at University Hospital in Cleveland, Ohio. I had been put to sleep for a C-section, altho I wanted a local. I think the doc suspected something was wrong because of her size, etc…and mentioned this concern, but I was not worried because I had been only 5lbs. 12 oz. and ‘baby, look at me now! 🙂

In my fog afterwards I heard them say, “It’s a boy.” and then “No, it’s a girl.” She had a severe hypospadias, undescended testes, and they found a rudimentary vaginal canal. I was not overly concerned about most of her abnormal features. My second and third toes are 1/3 webbed, plus I also had reproductive parts which did not develop normally. After 3 miscarriages, it was discovered I had a complete bi-cornate uterus. I had surgery for that, then had another miscarriage before Jennifer was conceived.

Our geneticist was excellent, but they knew so little about SLOS at the time that she felt Jen was a severe case and would probably die the first year. Altho tests showed that Jen was male, she told us to raise her as a girl, because if she did live, she would be ‘laughed out of the locker room.’ Tube feeding was never mentioned.

So two weeks after she was born, we took her home to die. She had no suck, so nursing did not work. A nurse had showed me how to squeeze in a few drops of formula, then rub under her chin to make her swallow it. Each feeding took forever – 1/2 to 1 ounce at a time. And then she would sometimes toss it back up. What a nightmare that was. I started with cereal very early…just to thicken the formula…with feedings done the same way. This seemed to really help, both with keeping it down and in her gaining a bit of weight.

I also started other solid food early for the same reasons. I would hold her in my arm, and that little mouth was always open, so I would put some food in and let gravity take it’s course, rubbing under her chin. She did eventually learn to swallow by herself this way. The other problem was that she wouldn’t close her mouth, so food would run out. I had to manually close it with each bite…put food in…push jaw up…rub. Gee, I still remember 32 years later… In this manner she did learn to close her mouth and swallow after each bite, except for fruit! She loved the fruit, so I guess she figured that if her mouth stayed open, she’d get more…I believe it was a year before she ate that properly. Because of all this, she was one of the few oral eaters.

Anyway, she did learn to eat and then ate well, but only soft foods, as she had no chew…and little point in teaching it as only 2 teeth meshed. When she was 7, she learned to feed herself with a spoon, resisting it every step of the way, but she had a wonderful teacher who was determined to win the battle. I have a photo of them both covered head to toe in chili 🙂

Who would believe that within a couple of years, she had to have it written into her IEP to work on slowing down her eating! She could shovel a plate of cut-up spaghetti in non-stop.

There were intermittent feeding problems. After an illness, she would refuse to self-feed, holding her arms in the air like broken little wings, but a couple of weeks of hand over hand feeding would get her back in the groove.

I recall that her cholesterol was once 34 or 17, but don’t remember if I was told that when she was born or when she was older. Since this was before they knew about the cholesterol problem, I thought it was really odd, because I had high familial cholesterol. When the synthetic cholesterol became available, we tried it, but she had nothing but diarrhea, so we stopped using it and started her on 2-3 pasturized egg yolks per day, and her cholesterol then stayed in the 170s.

For many years she had episodes of non-stop high-pitched screaming and self-abuse, sleeping only a couple of hours at night. These episodes lasted 2-3 weeks, except for one 5 month stretch. Her behavior became much better as she got older. We do not know if it was maturation, the Prozac started at age 16, or the cholesterol. I assume probably all three contributed.

Jen was 4’5″ tall and her weight hovered between 75 and 85 pounds for many years. Although she had the best in daily therapy from the age of six months, she was non-verbal and only walked with assistance. She required custodial care and was placed in a group home at the age of 27.

END OF LIFE STORY

In June of ’06 Jennifer started coughing a lot and vomiting. She was in the local hospital for over a week, but they could find no reason for it. She went back to the group home, but coughed and vomited a lot for the next two months.

August ’06 ~ Back in the hospital again because of the vomiting, she aspirated while laid flat for a diaper change. She was vented, trached, and from thereon had several pneumonias – acinobactor, pseudomonas, etc. When she was better, she was sent to Cleveland Clinic for what was thought to be a needed hernia repair. The Clinic had more capabilities for testing and discovered that the entire problem was reflux, not the small hernia. Her esophogus was enormous by that time, so she then had the fundoplication – major surgery because of her severe scoliosis. The trach was in so long, she then had stenosis, and the colonized viruses kept erupting in other places in her body.

I hope that this info about the 16 plus months leading to Jennifer’s death at age 33 years and 10 months will prove beneficial to some other parent facing the same situation, or whose child is treated by doctors or hospitals unfamiliar with SLOS.

Jennifer’s stories, movies, eulogy & memorial are on her website.