Louie was born in 2011 with an unexpected rare genetic disease. He arrived about five weeks early and was encased in a collodion membrane. He was rushed to the Children’s Hospital and spent a week in the Neonatal Intensive Care Unit for management of his skin disorder and to ensure nutrition due to his small size. The staff presumed he only had a rare skin condition and were unaware of any other medical concerns at the time. We went home ready to manage this diagnosis, but we continued to meet with genetics to explore other rare diseases that presented similarly.
His first year was a rollercoaster of frequent trips to the hospital for a variety of illnesses (high fever, uncontrollable diarrhea, RSV, and vomiting). At home he would struggle mightily to take a bottle and would typically throw up his food multiple times every feeding. It became apparent that there was more going on with Lou as he missed milestones, showed various developmental delays, and struggled to gain weight. As his hair grew in, we noticed that it didn’t look normal and would often fall out (or break off). At 13 months, we reluctantly agreed to place a G-tube in his stomach as a control to “supplement” his normal feeding. At the same time, his genetics team took a hair sample and used the tissue removed from his G-tube for further testing. This was when we learned that Louie had Trichothiodystrophy (TTD), which means “sulfur deficient hair.” This characteristic is often the key diagnostic element to identify someone with TTD. Under polarized microscopy, the hair reveals a tiger-tail banding – this is part of the reason we use the tiger theme to represent Louie. The other reason is that these kids are badass fighters.
TTD is a very rare genetic disease with little overall research and a small known population of affected persons. It is an autosomal recessive disease, which means that both parents must be genetic carriers and the child must receive the affected gene from both parents in order to have TTD. The occurrence of the disease is one in a million. The disease affects the DNA repair process and may present in a variety of ways in people. This may include the following: compromised immune system, respiratory issues, short stature, gastrointestinal problems, skin problems (ichthyosis, dry skin, UV sensitivity, etc.), cataracts or other vision problems, developmental delays, nephrotic syndrome, and a host of other ailments. With such a small known population of people with TTD, the specific conditions and severity seems to vary significantly. Around the time of his diagnosis, we would have told you that Louie was probably in the middle of the spectrum of TTD severity.
By 2013, we had a name to explain the underlying reason for what we saw happening with Louie. He would often get sick and then the illness would escalate into various respiratory issues such as RSV, HMV, or pneumonia. We became very thankful for Louie’s G-tube around this time as we always had an easy way to feed him even if was sick and couldn’t take anything by mouth; he gradually shifted to 100% of his feeding by tube (vomiting was still an ongoing issue, but we could easily re-feed him). This was also the year we flew out to the National Institutes of Health and met with research team specifically studying TTD. Through the NIH, we also got connected with the TTD Facebook page for affected families around the world. This network provides real-time information for TTD families to learn from actual experiences with medications, best practices for care management, and to connect with other people who actually understand exactly what we are going through.
The next few years of Louie’s life were quite similar, medically speaking. The winters would include a few weeklong stays at the hospital, but he would recover well and get back to normal. We also spent these years learning how to navigate the social programs that exist for families that have children with special needs-a new language and war in itself. In hindsight, Louie really thrived from 2013-2015. He made progress walking around at school (which he loved and made tons of friends) and getting into trouble with his sister at home. Lou can light up a room with his attitude and he loves nothing more than being goofy and making people laugh.
In December 2015, Louie had his first incidence of a (another) rare condition called nephrotic syndrome. This was identified after he kept gaining weight over a 1-2 week period, until he was noticeably larger (especially his face and legs). The weight gain was from fluid shifting from his vessels to his tissue, also known as “water weight.” This symptom appeared at almost the same time as when we started his first immunoglobulin therapy and we were reluctant to believe that the nephrotic syndrome was just a random occurrence. Nevertheless, the initial steroid treatment remedied the situation quickly.
February 2016 brought the first crisis scenario for Louie. He became suddenly lethargic and spiked a high fever and was rushed to the hospital by ambulance. This was ultimately due to pneumonia and, after a week, went back home. He returned to the hospital the first week of March with a high fever and respiratory infection and was discharged after a few days. He then returned again to the hospital with similar conditions and, while there, experienced his first significant drop in his hemoglobin, which necessitated a blood transfusion. Prior to getting the transfusion that night, he went into respiratory failure and was rushed to the Pediatric Intensive Care Unit (PICU). Once he was ventilated and had a central line placed, he was stabilized and then received his blood transfusion. Lou was on life support for a little over a week and spent another week in the PICU before moving the to the general floor to rebuild his strength before going home. Near the end of his stay, he experienced yet another rare condition called hemolytic anemia, which required more monitoring before going home.
After nearly two months in the hospital, Lou came back home and took on the challenge of rehabilitating back to where he was before that stay. While it took nearly five months, Louie appeared to fully recover from the effects of that experience. In October 2016, he had a relapse of nephrotic syndrome and responded well to the steroid treatment. However, on Thanksgiving week he relapsed again and did not respond to the treatment or the diuretics prescribed to shed the excess water weight. After being in the hospital for a few weeks with little change, his lungs could no longer function with the excess fluid and he was transported to the PICU. Initially, he was hooked up to a BIPAP mask, but he was eventually intubated, as it was too much work for his lungs to overcome the volume of fluid in his system. The medical staff finally made progress against his rampant nephrotic syndrome just before Christmas. After getting his weight back under control, we were able to extubate back to his BIPAP mask. The next two months were spent trying to exercise and strengthen his lungs enough to step down from BIPAP support to CPAP and simultaneously control his nephrotic syndrome and weight. Around the same time, two other changes happened. First, we changed is G-tube to GJ-tube (this is something we wish we would have done much sooner). Second, Louie began requiring frequent blood transfusions; it was almost always every 10-14 days until he would need another transfusion. The transfusions continued for the duration of this stay at this hospital.
By the end of February 2017, we began to accept that he might not recover like he has every other time. This forced many uncomfortable conversations about Louie’s future. We decided first to have a port surgically implanted so we will always have the ability to quickly give him medications or to take blood for labs. One of the most difficult decisions was made mid-March, when we agreed that a tracheostomy would be necessary to get Louie back home. Two days after the operation, he became septic and required an arterial line to monitor his blood pressure and an emergency bronchoscopy. After nearly a day sedated on his stomach, (this position helped his lungs open up more) and being kept under heat lamps, Lou began to stabilize.
We quickly became familiar with the routine cares associated with the trach as we began the search for an in-home nursing agency. We had a nursing agency before this stay, but he now requires round the clock care due to the intensiveness of a trach and ventilator. After interviewing several companies we found one that was a good fit, but then the waiting process began (it generally takes around 12-16 weeks for an agency to accept a new patient). Overall the last few months of the stay were pretty mild, but he gave everyone a scare when we tried to let his hemoglobin recover on its own. When the level dropped too low, Lou began experiencing situations where he would stop breathing and need to be ‘bagged’ by the nurse in order to snap out of the spells. Lou was discharged in mid-June after 7 months in the hospital. Our hearts were equally excited, exhausted and overwhelmed as we headed home with new equipment, a house full of supplies and a dear boy who required loads more care. Esme was elated to be together again, and Orla went from 4 to 11 months by this time.
Since going home, Louie has continued to have some of the troubles that plagued him in the hospital. We draw labs at home from his port at least once per week in order to monitor critical labs that help us to regulate his nephrotic syndrome and also monitor his hemoglobin level. He still requires frequent blood transfusions and gets subcutaneous immunoglobulin three days a weeks to help him fight illness better. He has had a few short stays in the PICU since we’ve been home, but having the trach and ventilator helping him breathe has greatly reduced the duration spent in the hospital. The nursing agency struggles to provide consistent coverage of nursing shifts with Lou, which means we are very limited to making plans or leaving the house. He needs constant supervision and complete caretaking.
Looking ahead, our goal is simple: to maximize our time together as a family outside of the hospital and to give Louie the greatest quality of days. We have been awakened to what it truly means to love and advocate, and our hearts will now guide us on this journey.