Zach - Eosinophilic Colitis and Congenital Sucrose Isomaltase Deficiency
Zach was born full term on 26/02/19 weighing 7 pounds and 1 oz. All of Zach’s check ups were normal and they were discharged 2 days after birth. However, 10 days after Zach was born, he had developed severe diarrhea and reflux problems. He was seen many times by GP’s, health visitors, and hospital pediatricians. They were all unsure of what his problem was but they changed his milk to amino acid milk protein allergy. However, that did not help and Zach continued to have severe diarrhea and vomiting and he fell off his centile chart. In May of 2019, Zach was admitted to the hospital. He has had central lines, picc lines, was fed by TPN, a large amount of blood tests and camera tests. He worked closely with dieticians, OT, and consultants. He even spent a few days in PICY as he had caught rotavirus and went into metabolic acidosis. From a biopsy of his bowel, they were finally given the diagnosis of the rare disease, Eosinophilic Colitis, meaning he had white cells in his intestines. Zach, according to his mother, has also been diagnosed with Congenital Sucrose Isomaltase Deficiency, meaning he cannot have sucrose or carbohydrates. He is being treated with invertase medication and a very special diet. He is back up on the 25th centile, where he was born and is currently doing very well.
Zach is a happy baby, his mother says. “Despite everything he has been through, he always has a smile on his wee face! He likes listening to his baby music and attends baby sensory classes every week, which he loves! He dislikes sitting in his chair being set down! Zach just loves cuddles and being carried around looking around him. He loves people and attention!”
Zach’s mother, Lauren Alexander, informed me that after 2 months of being admitted, there was no clear diagnosis and they were accused of intentionally making Zach sick. Consultants brought up social workers and their family had to be interviewed. They had 24 hour supervision for 4 days, which was finally lifted after a meeting. It was then that Zach’s bowel biopsy was taken. 2 months later, the biopsy results came back with both of the diagnosis. “We were relieved that after nearly 5 months we knew what was wrong with our baby and we could now work on getting him better. After a lot of research, the next morning, we were happy to be going home and be able to start making Zach meals he could eat with his medication. At the same time we were both extremely annoyed with the hospital as they had jumped ahead before tests completed and accused us of making him sick. We are extremely grateful we have been able to work with Zach at home and have got him to a very stable point where he is thriving with both conditions.” When I asked about their family getting accused, Lauren stated, “At this point no tests had been done on Zach apart from blood tests and his blood was normal apart from dehydration. So the consultant had said there was ‘no medical reason for Zach being sick, so someone or something must be doing so.’ That then led to an investigation of us. Zach was then taken for a biopsy and it showed both results- eosinophilic colitis and congenital sucrose isomaltase deficiency.”
Zach’s daily life consists of maintaining a certain diet and medication. His mother says that Zach has a range of medication he takes throughout the day, but the most important is invertase before a meal. “This is his enzyme. Zach’s food all has to be prepared by us at home to make sure it is a sucrose free low carb diet. This mainly consists of meals, 5 different vegetables and strawberries. We are continually looking for different food options to try with Zach and coming up with new recipes. We have to check food labels to ensure everything is dairy free, sugar free, and very low in carbohydrate.” Zach has a health visitor that they like to check in with every month. The health visitor checks his weight and his GP and would only see him if they had a query. “He is seen by his consultant in the hospital every couple of months now as he is improving so well along with a dietician.”
For the first couple of months before Zach was diagnosed, they were out of money. A lot of the money went towards nappies. Zach had about 30-40 nappies a day. On top of this, being in the hospital for over 4 months caused a substantial financial burden for Zach’s parents. “We had to travel 30 minutes there and back for washing, etc. And to pay for the car park at the hospital which was 5 euros per day. We also had to travel to Newcastle from Northern Ireland. The trust paid for flights and accommodation, but we were out more money over there for a few days. This was to see a different gastro consultant as our own consultant wanted a second opinion. Now Zach has improved and his nappies have reduced. We are able to get a few days out of a pack instead of 1 a day. I can also buy all Zach’s fresh food for around 100 euros a month. This gives him enough dinners and snacks that he can eat daily and I prepare them all myself so I know that they have no sucrose and low carbs.”
Zach’s parents have done much to raise awareness of his disorder, but it’s because all of this is still a learning curve, not only for them, but also doctors, health visitors, and relatives. However, they have communicated with CSID parents and patients using Facebook. There is a group on Facebook for this disorder. Lauren began speaking to 2 other mothers who have had a similar experience with their own children. “The group is brilliant with everyone sharing meal ideas and different problems. We have found some ideas for food that we can buy off Amazon for Zach to try.” When I asked Lauren about her use of Instagram to communicate with other patients, she replied with, “I haven’t been able to connect to any other CSID patients on Instagram. I have found pages like my gut health, which cover a range of issues, but personally it has been Facebook for our condition.”
Zach’s entire family has been very supportive of his parents. They came to visit Zach at the hospital and even gave Lauren a break when Zach was in PICU. “At home, my mum keeps him every other week for a night and would come down and help in the house too.”
Lauren told me that if Zach could tell the world anything, she thinks he would want to tell everyone that he and anyone else who has a rare disorder to remember that they are no different than anyone else. And for anyone that is starting the process or just recently diagnosed, just to keep going. As Zach has shown, you can thrive with treatment. You just have to keep going and being strong. Every rare disease carrier is a real superhero.
Lauren would like to tell other parents, “Trust your instincts. You know your child best and do not give up. Seek different opinions until you are listened to properly. Be strong and keep fighting strong. You are your child’s advocate! And just remember, your child is a real warrior.”
The last thing Lauren wants to say is that it does get easier. And I’m sure it does. Other parents have also told me that they never would have thought that it gets easier, but it does. You shouldn’t give up. That is such cheesy advice, but it can’t be more true.
If you’d like to read more about Zach’s diseases, please check out the links below: