Rare diseases: Raising Shael with Alagile Syndrome

This month I had the privilege to interview a strong amazing mother who discovered their little boy had a rare disease. In our interview she will talk about their journey and the impact this has had on their family. Her name is Dana Borenstein and this is her story.

Tell us a bit about you and your family

My name is Dana, I’m a stay at home Mom of two beautiful children. My oldest is 5 and youngest is 3.

Tell us about Shael

My youngest is Shael, he is a very happy, energetic, friendly little guy.

Please tell us about his rare condition

Shael has something called Alagille Syndrome. Alagille Syndrome affects roughly 1 in 70,000 live births. ALGS is autosomal dominant, meaning it only requires one parent to have the mutated gene. The person with the gene has a 50% chance of passing it on to their children. A child can also have ALGS through a new mutation of the gene with no family history. Alagille syndrome affects most major organs to varying degrees. The most prominent ones being the heart, liver and kidney. One of the major features of Alagille syndrome, and the one that has affected Shael the most, is liver damage caused by abnormalities in the bile ducts. These ducts carry bile (which helps to digest fats) from the liver to the gallbladder and small intestine. In Alagille syndrome, the bile ducts may be narrow, malformed, and reduced in number. As a result, bile builds up in the liver and causes scarring that prevents the liver from working properly to eliminate wastes from the bloodstream. Signs and symptoms arising from liver damage in Alagille syndrome may include a yellowish tinge in the skin and the whites of the eyes (jaundice), itchy skin, and deposits of cholesterol in the skin (xanthomas). Shael’s heart, kidneys and eyes are also involved.

How did you find out there was something wrong with him?

I had an uneventful birth, however after birth it was very hard to nurse Shael. He had difficulty latching from the time he was born. He had two tongue tie procedures, went to a breast-feeding clinic, yet we still could not figure out why he had such difficulty nursing. As the weeks progressed, Shael’s moods, became more awake and he appeared upset or in pain rather than calm and happy. He would be screaming 90% of his day. I remember saying to my husband, “something is not right.” He had what our pediatrician called “Physiological jaundice” but he didn’t do any tests. We went for a second opinion where the doctor sent us for an ultrasound. The ultrasound showed a retracted gallbladder but nothing else. At 5 weeks of age, Shael developed an inguinal hernia. At 8 weeks of age, our pediatrician started to take us seriously, when he noticed all of the “no’s” being checked off on his developmental screening. He also noticed his “sunset eyes” and made a referral to neurology and ophthalmology. I thought due to his rigidness, that Shael might have Cerebral Palsy. Neurology noticed his hypertonic tone, but did not think it was CP, and wanted to see us in 2 more months. Ophthalmology was not sure why he had sunset eyes, and noticed a swab line (an indicator of ALGS that we did not know at the time). He sent a referral to the hospital for sick Children.

At 3 months of age, Shael went in for day surgery to get it his inguinal hernia fixed. He had narrow airways, but the doctor was happy with how he did. We were able to take him home after a couple of hours. I noticed, small cut on his nose, he must have scratched. I tried applying pressure on it and it kept slowly bleeding. My husband was able to stop it with a stick you use for shaving. Throughout the rest of the afternoon, I noticed weeping in the site area. I showed my husband who is an ER Dr, and he said, swelling is normal and we can call in the morning if it continues. Shael slept in my room and at around one his breathing appeared to be striders. I was not comfortable and told my husband I was taking him to the nearby hospital. I really believe that somebody above was watching out for us, as I went into a new entrance (that were opening slowly) I was the first to be triaged. They saw Shael and said “he doesn’t look so good” my response was “this is how he always looks” They brought us into a room, where they took some blood, they came back an hour later with the pediatrician, saying his hemoglobin was very low, and that he needed a blood transfusion. They had to drill a hole in his femur as they were unable to get a vein. His INR (blood clotting level was great then 9. Normal levels are under one. He was quickly transported to sick kids hospital, where once we were in a room, he started to seize. Once they were able to stabilized him, they had to take him back to the OR, where they wanted to save his testicle, and his life. He came out of the or where they had given him fresh frozen plasma. They managed to save his testicle, but realized that there was something else going on. For the next 2 weeks, my baby was fighting for his life, while a variety of skilled physicians and researchers interviewed my husband and I to try and figure out if my son had a metabolic or genetic disorder.

What tests where done and what are they for?

The big thing was having the metabolic and genetic teams interview us. The blood tests that they did showed that my sons vitamin levels and bilirubin were high. This led them to think there was something going on with the kidneys. They proceeded with urine cultures, and a liver biopsy. The first thing they thought he had was biliary atresia. Once that was ruled out and based on our interviews and my son’s physical characteristics they started to think ALGS. They did ultrasounds, an X-ray to see if he had the butterfly vertebrae (he does not) and various blood work. We were given an unofficial diagnosis and started treatment right away, while our genetic test was sent to a lab overseas. It takes 3 – 4 weeks to get the testing back. To which his diagnosis was confirmed.

How has Shael’s condition affected your family emotionally?

Being a mom to a newborn and trying to spend time with your toddler is challenging as is. Adding a medical condition really throws you for a loop. Especially when you are not sure what the prognosis is. As a family, we were physically and emotionally exhausted. Trying to give 110% to both my children, and trying to find time to connect as a couple was very difficult. Shael’s condition meant he was not absorbing vitamins A, D, E and K. This meant we had make sure that he watched at all times, because if he fell, we would have to worry about internal bleeding, or bones braking. Due to his malabsorption he was hungry all the time. Because my husband is a shift worker, I would be up doing the night feeds, and this would leave me to maybe 3 hours of broken sleep a night. There were times I’d be looking for my car keys and find them in my fridge.

In November of 2016, we were told that Shael’s numbers were not getting any better and that they recommend we bring his case up to the board for approval to be put on the transplant list. That was a very scary moment for my husband and I. I can honestly say as parents to this child and a couple in this situation, it was very surreal. I think we were just on autopilot, doing whatever we needed to do. In early March of 2017, I was feeding the kids breakfast and we got a call saying, “congratulations, there has been a match, for a liver can you come to the hospital today” My husband had just fallen asleep and I will never forget waking him up to the exciting news. On March 5th 2017, Shael had his liver transplant. He did very well and stayed in hospital for only a week. He came home and 48 hours later had to go back in for a week due to a fever. The first year of transplant is the scariest, as you are petrified of rejection. It’s been a bumpy road emotionally. At the 10month mark, I felt like I could start to breathe a little, like we got over the big stuff, now I can start to let my guard down. I feel like i fell into a depression because of it. I was so focused on making sure my daughter was adjusted and that we were doing the best we could for Shael, that I neglected my feelings. Thankfully I have a wonderful husband and support system through my community and I was able to speak to others going through similar things. Made me feel better knowing my feelings were validated. In terms of my daughter, we were able to find her a wonderful song women who became her “big sister.” She was able to take Samara out while we were int he hospital. Her nursery school teachers, were aware of the situation and even created a surgery room in their dramatic centre to prepare Samara for some of things she might see when visiting her brother. We also, had an amazing volunteer who is now family to us. Who would stay with Shael at the hospital so my husband and I could spend quality time with our daughter. We knew how important this was. At almost 4 it was hard for her to always understand what’s going on. We did our best to let her know we were always there. She is such an amazing big sister, very attentive to her brother.

How has it affected you and your family financially?

We had no insurance when Shael was diagnosed. Funny enough in Canada, even though Shael’s vitamins were a necessity to keep him alive we still had to pay out of pocket. All medications were paid out of pocket and so was his formula, which roughly cost $26 every 3 days. Shael lost a lot of muscle tone in hospital, and required Occupational therapy. The government provided Early Intervention services, for a short amount of time, the rest we have had to pay out of pocket. This includes Occupational Therapy, Physio Therapy and Speech therapy. Funny enough, just as Shael was going for transplant, our government had come up with a program called OHIPplus. This means that most prescription medications are covered by the government to any child up until the age of 24 (I think). This did not include his vitamins or formula. Just his cholesteryl medication (anti-itch) and medications for his liver. We also managed to get insurance around the same time. So, that’s been slightly helpful, its covered 3 sessions of OT and PT and 2 of speech. The rest we have to pay out of pocket.

How often does he have to get treatment and are they government funded?

Shael is now just on an antirejection drug and a blood pressure drug. He gets blood work every 3 months, and is followed by his transplant clinic and various other clinics. Other than that, he has his therapies weekly. There are programs, for families who have children with severe medical issues, they base the amount of money on your income. this was a big help at the beginning. There are also other organizations that can help families, with medication and respite. When diagnosed, we are provided with a social worker, they ask us our needs and refer us to the proper organizations.

What sort of support do you have

We were very fortunate to be connected with an organization through our faith, who have helped provide us with Samara’s big sister and our amazing “Aunt Lisa” who stayed with Shael overnight at times in the hospital and helps us out to this day. I get scared leaving Shael with just anyone. He has routines and protocols that need to be followed. To find, someone who has genuinely taken a liking to your child and knows how to help care for them is priceless. She is one of the reasons my husband and i are still together. She gives us a chance to be a couple without worrying that something has gone wrong.

What do you feel is one of the largest challenges families face when a loved one has a rare disease?

For me the biggest thing is finding that balance. Our life for a very long time revolved around Shael’s illness. We needed to have our life revolve around our family. Trying to keep your head afloat, not knowing the prognosis I think is one of the hardest things a family is faced with. Sometimes it’s hard to stay positive for yourself and your family.

Is there a way that others can support Mother’s like yourself and other families of children with a rare disease?

For more information on Alagille’s and how to support this particular syndrome. You can go to the Alagille Syndrome Alliance website https://alagille.org

If you have a friend, whose child was diagnosed with a rare syndrome or disease. Sometimes they just need an ear and a cup of coffee. No “it’s going to get better” just an ear and a hug.

What lies ahead for you and your family?

Since transplanted, Shael no longer has a malabsorption issue. He has jumped from 5th% in height to 60th^% and from 10th% in weight to 80th% He is a very outgoing energetic little boy. I don’t know what the future is going to hold for him, he does have some delays due to being so unwell for so long, and not being able to reach his developmental milestones on time. But, I know that wont stop my little man! As parent’s my husband and I will do everything we possibly can to help him reach his full potential. As a family, we hope to spend more time enjoying life!


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