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Joshua

Joshua was our first baby, he was born at 37 weeks via C-section because we had been monitoring him since 28 weeks checking his fluid levels, lungs, and because he was frank breech with no plan of moving. He went straight to NICU after he was born so that they could do xrays on his lungs and make sure he was going to stay stable. He was only in NICU for 7 days, which is very short compared to many babies, but seems like an eternity when you just want to take your baby home and get to a normal newborn stage of parenting. Thankfully it wasn’t anything major that kept us in the NICU, he just was a very slow eater and wanted to sleep instead of eat. He left the NICU with a Pavlik harness for his hip dysplasia. We went home thinking this would only be for a few weeks then things would go back to normal. Then at his appointment it was another few weeks, then another month or so, and another couple of months, eventually moving to a more solid brace. He wore the braces until he was 11 months old. He still wasn’t eating solid foods at this time as he would cough and risk aspirating if we tried. He was very delayed with his milestones, we thought the delays were just because of the braces setting him back and again, that once it was off he would catch up and things would be “normal”. It is funny how when you don’t know what is going on you keep hoping for and working towards what you and the world sees as a normal child and normal parenting experience. When he was around 1 year old he was diagnosed with Scoliosis. We again thought it might be due to the brace and the positions he had been in. So we got a brace for that. This was during Covid being early summer of 2020, we were having a hard time getting in with anyone to address his delays and figure out what was going on with him. We had been referred to the neurologists in Saskatoon, who I called consistently for 3-4 months asking them when he would get in, they started to recognize my voice haha. They didn’t know when they would start taking new patients (due to covid) and when they did it would be at least a 6 mo. wait.

 

I wasn't very satisfied with this answer so I found a more private neurologist in Edmonton who would get him in in 2 months. We were very excited to finally get something moving. Not having answers was very hard and always made me question what I was doing or had done wrong to cause these issues for my baby. We saw the neurologist who agreed there were some odd facial features and that the delays and other abnormalities pointed to something, so we started genetic testing, and he got an MRI. The initial genetic testing showed nothing and the MRI showed some abnormalities with the shape of the lower part of his brain. This was November 2020. In January 2021 we had a full skeletal xray done by his Orthopedic surgeon to look at everything, but especially his hips and Scoliosis. The doctor came in and said he had multiple bone abnormalities in all of his bones. She suspected a storage disorder, particularly MPS 4. She then sent urgent letters to multiple specialists saying that Joshua had been missed due to Covid and that this should have been found a lot sooner. The next couple of months were wild as we started doing specific enzyme testing and getting in with every specialist. I of course researched MPS 4, and the life expectancy was average 20 years, with many health complications. There was a treatment for it that would require weekly infusions for him. When the enzyme results came back in March of 2021, we had already learned patience with waiting for answers.

 

The diagnosis we got was ML2 (Mucolipidosis 2) which is a storage disorder as well but a much faster progressing disorder with an average life expectancy of 7 years, many many health complications, and... no treatment. Only supportive care to give him the best quality of life possible. We were obviously devastated and had to learn how to grieve the life we expected our baby to have. He has thankfully been mostly healthy and handled illness well overall. He had a seven week hospital stay after he had a surgery in July 2021 to remove his tonsils and adenoids. When he went in for the surgery he was just getting over a cold. I didn't know any better yet and decided to let his surgeon decide if he was safe for surgery. They gave the go ahead and he went in for surgery. Because ML2 causes narrow airways it had already been decided that we would keep him intubated for a couple of days to prevent the risk of swelling closing off his airway without a way to access it with the ventilator. That first week in the PICU were the hardest I've ever known. My husband had to go back to work after his surgery so it was just me there. Joshua had a lot of trouble on the ventilator and the first few nights I hardly slept a wink because every 30 minutes all his alarms would go off due to low oxygen and they'd have to come in and bump the oxygen up until he stabilized. He had developed pneumonia and had one lung collapsed. One of the times he had so many secretions that he couldn't clear i was so scared we were going to lose him. They had to bag him and he was coughing so hard that he was drenched in sweat. There were three doctors standing outside the door watching the monitors closely waiting for him to come back up as two other people worked on him. He ended being intubated for 12 days, it felt like he was never going to come off, we had so many ups and downs with it before he finally came off. Then we moved to the ward to get ready to go home because his pneumonia had cleared. We worked towards removing the NG feeding tube but he took awhile to recover from being sedated for so long. He wasn't himself yet and so we were trained on NG feeding so we could go home. About 5 days post extubation, we were about to go home and he started developing a high fever 40+ degrees. So they started Tylenol and advil around the clock to keep it somewhat managed. He developed a strange rash on his limbs and face, so they contacted a specialist to help figure out what was going on. It took 10 days to finally see an improvement and it was decided that he had had a severe delayed drug reaction from the antibiotic used for his pneumonia. He had gotten a procedure done to put a PICC line in. We finally saw the DRESS (drug reaction) improving when he suddenly started spiking high fevers again. They did a blood test and it came back that now he had a blood staph infection introduced by the PICC line. So we started a 6 week course of IV antibiotics and he would have to go in for another procedure to switch out the PICC line because this one was now contaminated. But we had to wait for the antibiotics to clear the overall infection so as not to reinfect the new line. He developed deep vein thrombosis around the old PICC line so there had to be caution in removing it and now he needed a blood thinner. Shortly before the new PICC line procedure we started noticing blood in his NG tube. Due to the around the clock advil and everything else he developed a bleeding ulcer. He had to have 2 blood transfusions to recover from this. At many points of this hospital stay we just kept thinking we need to leave or we won't be leaving with our baby.Joshua apparently is prone to get every severe complication that can come with any intervention. He finally was stabilizing and was finally coming off of oxygen. Due to many many complications. He came home with an NG tube, a PICC line, a high flow oxygen machine, daily subcutaneous injections, IV antibiotics, and a lot more monitoring. All from a surgery that most kids go home the same day. I was also pregnant with Declan during this whole hospital stay which added another layer of worry for the baby as we dealt with the stress.

 

When we finally got home, it didn’t feel like home anymore. We had lived in the hospital for what seemed like forever.

 

Since that surgery though, he does well overall, his sleeping and energy hugely improved. He has had one other surgery since then this summer to get a gtube placed. We were quite nervous going in because of how the last surgery had gone. We can see his health declining over the last two years as he has been hospitalized twice for pneumonia and when he is sick he is sick for a long time and even the common cold is really hard on him. But, he is generally a very happy funny boy. He also has no hesitation letting you know what he does and doesn’t want. He has started getting more words over the last year and it has been so fun and very helpful for us to understand him. Joshua’s favorite things are going for walks outside, chocolate milk, exploring new places and things, and flipping through books. Recently he likes to help us cook and demands to be on the counter if we are in the kitchen. It is hard to always have the future of this disease always in the back of your mind. Especially as he ages, he will be 5 soon and it just feels like it has gone by so fast and like we only have so much time left with him. But, we continue to lean on God, remembering that He is good, even if it is hard to understand it. We trust that he has a plan and that he loves Joshua so much more than we ever could. We just wait for what the future holds and love Joshua for as long as we get to have him.





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