Sam

Megacystic Microcolon Intestina Hypoperistalsis Syndrome (MMIHS)

At thirteen years old, it’s tough to see how much Sam has been through in his life. He is a happy teenager who loves music and to dance.

However, for the first five years of his life he was in and out of hospital. The family lived near Starship at first which was handy and made for easy access to all of Sam’s medical needs. Now though, they live near Counties which makes things tricky. Trying to figure out who to see and when and where is hard as his paediatrician is at Counties and all specialities are at Starship, although some clinics are at Manukau Super Clinic. 

Sam was diagnosed with a problem in utero and Shirley was told he wouldn’t live past birth. He survived with his first three months in NICU. Sam had his first operation at twelve hours old and has had around 70 general anaesthetics to date, with operations on his bladder, bowel, kidneys, heart as well as lines put in and a GJ feeding tube. It was during his first operation that the medical professionals realised that Sam had gut problems. He also had a swollen stomach that was caused by a perforated bowel. At 48 hours old MMIHS was diagnosed. The family were supported by another family who had been through similar issues with their child, the MacDonald’s. They were able to give more information to Shirley as there wasn’t a lot known about Sam’s condition or what it meant to live without eating food, receiving all his nutrition via IV feeds. There was a lot of medical jargon to decipher and not a lot of information Shirley could access nor understand easily. Her advice is to ask the hospital and doctors as many questions as possible, in order to get the information you need as a parent with a newly diagnosed child. No question is a dumb question! In his first few months of life he was diagnosed with Megacystic Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS). This is characterized by a dilated bladder, very small colon and little to no muscle movement in the intestines. This diagnosis didn’t cover his cardiac, respiratory, orthopaedic or intellectual issues. However, Sam’s DNA was recently re-run through international medical databases to see if some of his symptoms could be better matched to a listed condition. He has now been given a diagnosis which covers more of his symptoms as well as a greater emphasis on his mental delay. Baraitser Winter Syndrome includes delay in the development of many parts of his body including his brain and issues with his bones and legs. Sam needs assistance toileting and has a GJ through which he gets food. There are two bureaucracies organising what he needs – one for physical health and one for his education. Because Sam has full time help in school Mum, Shirley, goes in at the beginning of every term to retrain his carers to make sure they understand how best to support Sam during school hours. This all changed during COVID. As everything moved to online work, Shirley was left at home to care for Sam 24/7, as most carers were unavailable to help as they were also working part time in hospitals and it was deemed too risky to have people coming and going from the home. Sam struggled immensely with the demands of working online during lockdowns, so we solved that struggle by refusing to do the online learning – it just was too hard for no point! We focused on fun and quality time and learning through play. As restrictions loosened, Shirley weighed up what was best for him in terms of quality of life and school expectations. Sam is now back at school; however, he does wear a mask and there will be times when the risk is deemed too great, and Shirley keeps him home to protect him. Despite this, Sam loves school and is very content to go when he is well enough. To make sure he stays out of hospital as much as possible, Shirley relies more on Telehealth appointments rather than face-to-face. It saves hours of time battling Auckland traffic, lots of money (petrol and car parking), reduces risk of infection at hospital, & less interruptive for Sam’s schooling. Sam has suffered 16 UTIs this year alone, however, he has avoided admissions as Shirley has an agreement, built over time with Sam’s trusted Middlemore team. Urine samples are dropped directly to Middlemore ED, then a script for antibiotics is dispensed. The antibiotic course would start that day, with daily phone checking in on Sam’s well-being until lab results from urine cultures are available. Sometimes antibiotics may need to get changed, but often they would clear up with the course given. Setting up this system has been vital in keeping Sam out of hospital and maintaining routine at school, and avoiding him becoming very unwell. Recently a new type of catheter has been introduced as a trial, which is hoped to reduce infection risk as well as being easier for Sam to use himself. The hope is he will be able to be independent in using these catheters himself. He has autism and texture issues and both kidneys need to be emptied manually every three hours. He has an ileostomy bag and a urinary bag. Shirley has a unique perspective on what it is like being a parent of a medically fragile child. Her advice to others who have a long term, chronically ill child is that you must find ways of doing things which are best for you and your child. People are supportive until they get tired or busy, and having a sick child can be very lonely. Find people who can support you at every level. Transitioning home can be the hardest part of the journey as you are back in your own space, which is great, but you are also wholly responsible for care, with no call bell to ring or medic to consult. There is so much to do and remember. If you have help, communicate clearly to those who are with you about what your child needs. Shirley finds it helpful to have laminated photos of Sam’s body, clearly labelled, so a visual aid is available alongside her explanation. Find one or two people who can take up the slack when you return home so that you can settle back into your rhythm. Also, don’t be afraid of the hospital, if that is where you need to be then that’s a good thing not a negative thing. Remember you know your child best so don’t be afraid to explain more fully or demonstrate what your child needs. Assume everyone is there to do their best and work with them as a team. If you are going on holiday or on a trip away from your home or usual area, make sure you have a laminated list of everything you need so that you can tick it off and not forget anything. Taking 1-3 days extra medical supplies is also a good idea in case anything goes wrong, and you can’t get your usual supplies. Information is your best friend, don’t be scared to ask questions about what your child needs, especially the specialists tasked with your child’s care. Check in regularly (6 months or so) with each person involved in Sam’s care and ask for updates on potentially new equipment etc. When you are an outpatient, the hospital staff are busy within. An example of this is the new catheters we are trialling. They have been available in NZ for 4 years. Sam has been using catheters for 13 years but no one at the supply or clinician level thought to update when better catheters became available. Thankfully we discovered them by chance and are hoping it will radically change his life. As an outpatient, be pro-active in keeping in touch with your medical team, ask questions and remind them you are still here with ongoing needs. Often life changing information isn’t passed on, which is not a criticism, just the reality of an overstretched health system. As Sam grows and becomes a little more independent, Shirley hopes he will be able to care for himself and become more self-dependent. She also hopes that he will continue to grow as a decent and kind human who has the skills to think of others, find happiness and live a full life.