Sandra Beltran explains her ‘lessons learned’ Living with Alagille Syndrome & Liver Transplant: challenges, lessons and partnerships.
Alagille syndrome is an autosomal dominant disorder, which for most people with Alagille syndrome causes a mutation, or defect, in the Jagged1 (JAG1) gene. Mutations in the NOTCH2 gene are seen in less than 1 percent of people with Alagille syndrome.
Alagille Syndrome is a complex condition where by the affected person has fewer than normal bile ducts. It affects many parts of the body including the heart, kidneys, blood vessels, eyes, face, and skeleton but the main organ affected is the liver. The syndrome occurs in about one in every 70,000 births and is equally common in boys and girls.
My son Santiago was born with ALGS. I am his caregiver and mother. It was first diagnosed when he was 8 weeks old. The doctor who told me said “your son has a condition that is not compatible with life” and explained there was no cure. I quickly learned if I wanted to increase my son’s chances of survival and success in life, I had to overcome the stress and emotional impact this had on me and our family and allow him the opportunity to thrive. First prognosis was that he would need a liver transplant before turning 2 or he would die. He turned 10 years last month.
We have experienced many challenges on this road including relocating to another country for my son’s liver transplant. Partnerships of many kinds became and still are very important and continue to help us post-transplant medically and as a family trying to navigate the syndrome. I knew early on we would benefit from others’ experiences and that has held true.
For some reason I didn’t recognize right away I had been given this Alagille Syndrome challenge. I was chosen to be put to this test… and I know I’m going to give it all I have so he has a chance to survive!
The challenge of ALGS
The organs affected by ALGS are fundamental for life: heart, liver and kidneys. Individuals often need multiple organ-transplant to survive.
Diagnosis of rare diseases is always a challenge. In the case of ALGS the risk of misdiagnosis is high since there are other more common conditions such as biliary atresia that can have similar symptoms and treatment. My son’s initial diagnosis was in Venezuela, following a KASAI procedure for those with Biliary Atresia. We later learned he did not need the KASAI which did not improve his ALGS but complicated it further.
The challenges for children with ALGS:
- Avoiding malnutrition. Since bile doesn’t flow properly to intestines, absorption of nutrients and fat or fat-soluble-vitamins does not occur. Children need nutritional hydro-soluble supplements and vitamins which usually taste horrible, making it very hard for parents to administer.
- Living with excessive pruritus. Bile builds up in the liver and the whole cardiovascular system which produces itching. Children have trouble resting, sleeping and so do parents. They continuously scratch their skin, face, ears, ankles, etc. This can cause cuts which, in turn, they scratch off the scabs and continually bleed.
- Managing social discrimination. Generally, people associate jaundice with hepatitis and think there is a risk of contagion and prevent other children from getting close to children with ALGS. Xanthomas on the skin, due to their appearance, can also impact a child’s ability to socialize if other children or parents aren’t aware of what they are.
- Having economic means to afford treatment. Individuals with continuous treatment plans experience frequent travels, medical bills, and costs associated with travel like lodging, food and supply. For those who have dealt with organ transplant have continuous medication and medical care also. Often a parent is the main caregiver and cannot work. Heavy treatment plans and extended hospital stays make it difficult to hold down a job.
Pediatric Liver Transplantation (LT)
According to the Journal of Pediatric Gastroenterology and Nutrition LT is estimated to be required in 21% to 31% of ALGS patients. The median survival rate is 79%.
Top challenges of LT from a patients’ and family`s perspective:
- Finding a compatible donor. In the case of children, the challenge is bigger because the organ must be compatible but also of a size that fits the child’s body. To improve children access to transplants doctors have developed surgical techniques that enable living donor transplants. This helps reduce the waiting list times. Usually parents or close relatives become donors.
- Though LT is a well-established therapy in ALGS, it is a complex and delicate procedure for patients and it has many associated complication and risks.
- Experiencing a transplant with a child is stressful and emotionally demanding. Both parents and patients are under tremendous pressure during this time. Juggling careers, other children and finances are continual pressure for many throughout transplant. Anxiety and depression can occur and family members should seek professional support whenever needed.
- Economic and labor implications have great impact in families. Families may choose to move to another country or city in order to access treatment. Parents may loose their jobs or change jobs to accommodate their child’s medical schedule.
- A transplant is not a cure: transplantation is a treatment and the risk of long-term immunosuppressive treatment on renal and vascular disease remain uncertain.
- Teaching your child to live with a transplant: Parents must teach their children about their condition and how to take care and advocate for themselves. Children need to be aware of the medications they take and be aware of activities which pose a risk to injury and bleeding.
Six years after having his LT at Hospital La Paz in Madrid, my son is alive. His father was the donor, but in order to have transplant done we had to move to Spain as in Venezuela it was not possible to perform the transplant in a child weighing less than 10kgs.
Transplantchild, the European Reference Network for paediatric transplantation.
Formed by 18 hospitals in 11 European countries and led by Spain, Hospital La Paz’ team I celebrate the creation of Transplantchild by the European Union in 2017. This network focuses on low prevalent and complex clinical conditions and transplants in children (sharing knowledge, protocols and establishing standard procedures).
It is a true relief and a blessing having had the opportunity to bring my son to Madrid for treatment, where there’s so much expertise in rare conditions and pediatric transplantation
What I have learned…
A decade has passed since my son was diagnosed and with it many lessons acquired… many learnings to recall. All of them have reshaped my life. Having a child with ALGS, loving and supporting him, going through a liver transplant with him and continuing with my own life has been a transforming experience.
I share here some of my learnings with the hope that others benefit from them.
- To be able to take care for my son, I had to take care for myself. An honest personal assessment of my circumstance allowed me a comprehensive approach.
- A diagnosis is just a diagnosis. It is not a life sentence. We all have the leading role in own lives and the power to choose what to believe. Staying positive can be critical to maintaining happiness throughout new or changing diagnosis.
- It is fundamental to understand the difference between what is within our control and what is not. We did not choose ALGS for our children and we cannot change it, control it or will it away. We must accept the status for what it is, so we can move forward understanding it. I’ve had to learn to focus on doing on doing my best with what I can control and letting go of those I cannot.
- Nothing is 100% good or bad in life. There’s always a bright side of even the darkest times and lows!
- Never underestimate the strength and power of a baby or a child. Children are resilient. They are delicate but strong. Never underestimate this. They will always surprise you.
- It is a blessing to have the options for a life-threatening condition like ALGS, even if it is a transplant (Tx). Many rare diseases are without treatment or therapies. Those with ALGS have options.
- Having a responsibility doesn’t mean you have to deal with it on your own. Allow yourself all possible support from family and friends.
- Allow yourself as many moments of laughter and joy as possible. Humor is a great antidote for stress and anxiety.
- Partnership is key to success. Identify the community that your diagnosis has provided membership for and join. We cannot do it alone. Find support via email, telephone, virtual support groups, disease related groups, with friends or family.
- Having ALGS is a long-distance race. It is not about being first. It is about being able to sustain the effort as you go through life.
- It is not about fighting the disease; it is more about learning from it because it brings opportunities for growth and evolution.
The power of partnership
Partnership is key to success for life in general. In the case of ALGS and transplants it becomes perhaps one of the keys to having the best possible quality of life because both are chronic conditions. They have come to stay. And we need to make peace with the disease and its treatment if we are to succeed and evolve.
Joining a community of people who have been or are going through similar situations as you will open your eyes to a whole new world that you would have never seen otherwise and that you can benefit a lot from.
Being part of patient associations / partnerships will allow you to:
- Reduce anxiety about the future of the condition.
- Be prepared by identifying problems and solutions you may face before they happen.
- Go beyond geography and stay on top of the newest treatments and research.
- Put your case and situation in perspective. Compare yourself cleverly.
- Make considered and informed choices for yourself.
- Contribute to driving forward clinical and community development efforts by sharing knowledge and experience.
The associations that I have benefited more from, and that I would suggest joining are:
- Alagille Syndrome Alliance.
- Federación Española de Enfermedades Raras.
- Asociación Deporte y Trasplante Madrid.
As I said in the beginning of this article: “I didn’t recognize right away why I had been given this ALGS challenge, why I was chosen to be put to this test”. I still don’t understand it all. Understanding has become less important for me. I have developed the ability to identify my role in this story and so I give my utmost everything to this.
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