I am Paige, wife to Chris, and mom to 3 kids, 6-year-old twins and a 2-year-old, Reece, with ALGS, who will be 3 yrs old in April. We live in Charleston, South Carolina. What a challenging & wild Alagille journey this has been, It started during Reece’s first month of life. No genetic link with ALGS in our family. Older siblings are healthy. This was a genetic mutation for Reece.
We were unaware at birth that he had a liver condition. He was not jaundice, but he was not gaining weight and was fussy (thought to be colic). He ended up becoming jaundice at 5-6 weeks old. We were living in northern California at the time, so we were referred to Stanford because of their expertise with liver disorders. Reece had a liver biopsy, an ultrasound, and blood work that confirmed he had Alagille syndrome when he was 7 weeks old. Just prior to Reece’s birth, my husband accepted a job offer that would allow us to move back to the east coast so I would be close to my family. I am from Virginia. All my family is still in Virginia and North Carolina. The plan was that my husband would have to go to training in Altus, OK, as he’s an instructor pilot for the Air Force, and I would move home and live with my parents to have their help and support during this transition time. At the time I moved back to VA, we had literally just received Reece’s official ALGS diagnosis so we did not know how severely he would be affected or what it all meant. I immediately started researching. The doctors in VA were not nearly as familiar with Alagille and the transition to a new medical facility and doctors was difficult. Reece had great medical care at Stanford and I gained so much knowledge from their liver team.
Weight gain has been and continues to be a significant medical concern for Reece. He has barely avoided a G-tube because of his very slow weight gain. He gets his nutrition and calories primarily through Pediasure peptide. He has difficulty eating solid foods, eating very small amounts and just a few foods by mouth. We work with a feeding therapist, but he continues to get 98% of his nutrition through the formula and Boost Breeze high calorie juice. He is very small for his age, just 24 lbs. at 33 months old, but finally made the growth chart in terms of weight within the last 3 months!
A primary medical concern day to day for Reece was his continued, and at times worsening, pruritis. The itching affected his sleep, making it very difficult to fall asleep at night. He would wake up multiple times in the night, every 2-3 hours, and this continued until almost 3 years old.
Currently, and more significantly over the past 6 months, Reece has had a steady increase in xanthomas all over his body especially his legs, feet, hands, and elbows. His xanthomas are very itchy and cause a great amount of pain when they are touched, slightly stuck in a toy, or bumped on the table. It is so hard to watch. Because of his itch, he is such a cautious kid. He’s afraid of hurting himself and is delayed in terms of higher-level gross motor skills. I would love for Reece to attend a part time preschool program, but I feel he would have to be carefully monitored and protected from the other toddlers. I feel it’s just too much to ask of the teachers. Also, he is on 6 different medications to help relieve his itching. In addition, his fat-soluble vitamin levels are low, so he has to take liquid vitamin supplements multiple times/day. For a while getting Reece to take the medications without vomiting was a huge challenge.
My husband’s job ended up being significantly delayed in Altus. I continued to stay in VA living with my parents because I needed the physical help that my family could provide. Finally, in June 2021, almost 2 years later, our family was able to be together again. My husband was transferred to the Charleston Air Force Base. Being separated was a huge stressor for our family. My husband could only visit us 2 times per month. I have not been able to work. I left my career as a pediatric Physical Therapist because of all the care and attention 24 hours a day Reece needs. I miss my job, however, I am very grateful that my husband’s job has been able to provide for our family financially. This has and does allow me to stay home to care for our son which is so important. I would like to go back to work sometime on a part-time basis now that we are settled in Charleston, SC.
Burden of disease has been very heavy and our daily life continues to be significantly impacted by Alagille Syndrome. Reece’s struggles with feeding from day 1 still continues. The special formulas he’s prescribed to help him gain weight have not been covered by insurance until 2 months ago. I have spent countless hours on the phone working with doctors and pharmacies trying to get the formula and all his medications covered, multiple pharmacies to get all the medications that Reece needs. Because of severe sleep deprivation due to my son’s itching for the first 2 years, I had to hire a nanny. The sleep deprivation has been one of the hardest aspects of Alagille Syndrome. The nanny comes a few timers each week so I can get through the days, as I also have the twins to care for. The financial implications and hardship of Alagille are extremely difficult. Reece’s daily schedule, filled with multiple medications throughout the day and night, the itching, wake ups during the night, altered sleep schedule, and feeding struggles have also greatly affected my 6 year old twins. Specifically, the care and attention I can give them on a daily basis feels reduced. I feel guilt, and that I cannot devote as much attention and time to them as I would like because Reece’s needs are heavy.
In February 2021, we were able to enroll Reece in the Mirum Pharmaceuticals Expanded Access Program for their drug to treat itching after many months of trying to access the opportunity. The drug, Livmarli (Maralixabat), has been life changing in terms of decreasing Reece’s itch. His sleep has improved at night also. He used to scratch so much that he made himself bleed. This has significantly decreased. He now wakes up only once in the night on average, a huge improvement! Also, his liver function numbers have improved somewhat but his bilirubin continues to be significantly elevated.
Reece has had worsening xanthomas and continues to have significant nutrition and growth concerns. We have decided to move forward with his liver transplant evaluation. This has been tough because we had such high hopes for Livmarli, and that it would be so life changing and improve liver function numbers so much that a liver transplant could be avoided or postponed for many years. Unfortunately, this is just not the case. Reece’s quality of life is just too compromised. He has just recently been approved for transplant listing based on his quality of life. We have opted to hold off on listing until March/April so that we have family to help. We will need that. It’s been a lot wrapping my head around this, but we truly feel that a transplant is what is best for him. We have exhausted all medication options. Reece deserves a better quality of life. I want him to go to school and interact with his peers. He is such a bright and social boy! We feel so fortunate to live within 30 mins of the Medical University of South Carolina, the transplant center for the state. After working through 3 other hospital systems while moving around, which was extremely stressful and time consuming, I have a solid team of doctors and specialists that are very knowledgeable about ALGS. They communicate well and this is essential. I trust them and their expertise.
What a journey this has been. So many challenges, but also so much love. Reece is a warrior. He has been through a lot and is still so full of smiles and personality. I have learned from him and continue to do as much research as I possibly can to educate myself on ALGS so I can best advocate for Reece. I am grateful for all the big and small accomplishments he has made and how well he is doing developmentally despite how affected his liver is. He lights up the room and is full of love, telling me he loves me multiple times per day! He has been my biggest and best challenge.
I would tell newly diagnosed families to ask for help from your family members, babysitters, neighbors. Don’t isolate, and take care of yourself because self-care is hard. You must find time for yourself even if it’s just 30 mins to get away, exercise, or go treat yourself to a pedicure or massage. Hang out with a friend. If you aren’t okay, then no one is going to be ok! Find a team of specialists/doctors that are knowledgeable and have experience with Alagille Syndrome. Make sure they are good communicators. Lastly, be sure to connect to the Alagille Syndrome Alliance.
I am so very grateful for them. The knowledge I’ve gained and support I’ve received has been invaluable. This has been the best thing I have done. I feel supported and continue to message with a few families on a regular basis who also have children with Alagille around the same age as Reece. It is so comforting to know that there are other families out there who understand and are going through similar challenges.
How you can help?
There are so many ways families can help. You can spread awareness about ALGS by educating family members, friends, co-workers, and even doctors. You can advocate by volunteering with the ALGSA to share your story with pharmaceutical companies, scientists and researchers so they will continue to learn about Alagille Syndrome which supports research and development of treatment options and medications for Alagille patients. Lastly, you can fundraise and donate to the ALGSA, which gets involved in and helps fund research for better treatment options and a possible cure for ALGS.