About

Louie James Edlund was born on August 29, 2011, at 6:59 pm, 35 2/7 weeks, weighing 4 pounds, 2 ounces. Mom- Theresa, Dad- Ryan and big sister- Esme (DOB: 03-18-10), were ecstatic to welcome him into the family. He came out crying but it was soon apparent that there was something very wrong. Louie’s skin developed a brownish parchment paper-like appearance, restricting his movements, and peeling off in some areas. Numerous tests were immediately run, which we were told were normal, but he would need to get transported to Children’s Hospital in St. Paul for monitoring and further testing. Needless to say that night, alone at Lakeview Hospital, was among the worst I’ve had; trying to sleep without my new baby boy was awful. I made it my mission to get out of the hospital asap to be with my Louie. Discharge happened at 8 am the next morning and off to Children’s NICU I went, where Daddy and Louie were waiting. Test after test showed that Louie was stable, leaving his diagnosis a mystery, but several possibilities did surface.
A geneticist met with us about halfway through our stay. I remember the meeting very well; Ryan and I sat on the blue pull-out couch and the geneticist and counselor sat on folding chairs across from us. The geneticist brought along a thick textbook and, after answering countless questions about our family history, she opened the book to a marked page. She said that Louie either has this, pointing to a scary sketch of a boy, or this, pointing to another frightening picture. The sketches depicted two types of ichthyosis (abnormal skin shedding disorders)- lamellar and x- linked ichthyosis- which cause a build-up of skin in a pattern of “scales.” Ryan and I didn’t say much after that. We both felt overwhelmed and numb with the thought of our boy facing life with this. After that meeting, Ryan encouraged me to go for a walk with him. We hugged and cried, and found some ice cream that we tried to enjoy.
We were discharged after 7 days, and sent home to raise this precious, fragile boy, who barely weighed 5 pounds.
To everyone’s surprise the initial genetic tests came back “normal,” for the aforementioned skin diseases. Things were looking up!
But then at 5 weeks, he spiked a fever, and was admitted to Children’s for testing. This turned out to be a virus and over a few days he did improve enough to go home. Little did we know this would be the first of many visits back to the hospital.
Next came the dreaded RSV over New Year’s, landing both Louie and Esme in a family suite at Children’s. It was a battle to keep the oximeter and nasal cannula on both kids. We were all sick at the time. That virus is just plain awful. A week later we went home and still cringe reflecting on that stay.
Since Lou was 10 weeks or so, he started fairly consistent vomiting after feedings. The ENT doctor thought it could be caused by his very large adenoids. So in September of 2012, out they came. Unfortunately that did not help the vomiting.
Lou’s weight plateaued around 16 pounds for over 3 months. The gastroenterologist suspected an allergy, so he was started on Neocate formula, and Neocate cereal, which is a hypoallergenic amino acid food. He also mentioned the idea of a gastrostomy tube, aka. g-tube, allowing Lou to get better nutrition via a tube directly into his stomach. We were shocked by the thought of going to this extreme.
After more frustration with vomiting, and no weight gain, we decided to go forward with the g-tube placement in October of 2012. The surgery was fairly quick and went well, but did require a one night hospital stay for observation.
During that stay in Children’s, the geneticist decided to take a sample of Louie’s hair for some testing. And then the question was answered; Lou was diagnosed with an extremely rare disease called Trichothiodystrophy, aka: TTD. The diagnostic criteria is a “tiger tail banding” of the hair when viewed under polarized light. Louie’s hair, to the naked eye, looks wooly, broken and sparse. And as the name implies, he is lacking sulfur in his hair which causes this appearance (tricho=hair, thio=sulfur, dystrophy=disorder/faulty). The literature says there are 50-100 people in the entire world with this disease, and thus there is limited research to determine a prognosis.
About one month after the g-tube placement, Lou developed a gastrointestinal virus- aka. gastroenteritis. Lou became quite dehydrated and needed IV fluids. After nearly a week as an in-patient we went home again.
Because Lou had a g-tube placed, he needed to be anesthetized after a couple months to change the tube to a Mic-key, which is a much simpler type of g-tube that we can change in-home. This was done in late December 2012, at which time they also did an endoscopy and colonoscopy to take biopsies, looking for evidence of allergies. All went well with this, and the biopsies were surprisingly normal, but that also meant there was still not an answer as to why Lou was vomiting so often.
In February 2013 influenza hit. Lou was hospitalized with dehydration, and Ryan came home early from ice fishing for the surprise event. After a few days in Children’s we got to sleep in our own beds again.
Next came an upper respiratory virus in April, forcing Lou back to Children’s, and mom having déjà vu from the RSV stay. Lou was found to have Human Metapneuma virus, which produces symptoms “like RSV on steroids.” High flow oxygen, chest percussing, endless coughing, nebs, ibuprofen, temperature checks, antibiotics, diarrhea. That was probably the worst illness yet, but again that strong boy pulled through.
Along the way we have learned that TTD children tend to have more upper respiratory infections than “normal” kids, as well as acid reflux, vomiting issues, and g-tubes. Louie is obviously right on track with all of those, but unfortunately there is not enough research to answer the perpetual question of “why?”
Our sweet “Lou Lou,” as nicknamed by Esme, has a very positive and happy demeanor, which interestingly is also a common trait of TTD. And though this disease is so frustrating with all the unknown’s, we have a solid foundation of support, including the most fantastic medical professionals in the nation.
God created Louie in His image; Louie is love.