Jax's story

 Jax was born on February 21, 2014. I had the easiest pregnancy with him, the easiest pregnancy of all of my children in fact! He was born with no real complications, he came super quick and we were even released from the hospital earlier than expected because he was so healthy. We had no idea or the slightest indication or thought we would be where we are today. He was the happiest baby and always so content. We always said he was our observer, he would be content to just sit and watch everyone else and he was oh so smart and had each of us figured out from the start. He knew that he could make the slightest sound and I would swoop him up and just love all over him, he knew that I could never leave him to be even slightly upset in anyway. He figured out that when daddy was around, army family here, he would get to play and "fly" and daddy was quickly realized as the fun one. That seems to be the normal dynamic in houses, mom's are the ones that you want when you need something or need that little extra reassurance and love because mom's fix everything right? I wish that were still the case... But dad's are always the fun ones who add that extra bit of safe danger and push the limits on fun. Jax was just absolutely perfect and content and happy all the time!

Unfortunately we were met with a huge blindsided around 8 months old that started the downward spiral that landed us where we are today. He became unable to breathe in the middle of the night. Only by the grace of God, I woke up and had the worst feeling and ran and checked on him and his brother and found Jax blue in his crib with the most shallow raspy breath sounds. I immediately grabbed him and ran to the car and drove to the er continuously stimulating him and doing everything I could to keep him breathing. Looking back, calling an ambulance would have been safer than the route I took but in the moment, I knew I was losing him and I knew I could have him to the hospital that was 10 blocks away faster than it would take to make the 911 call. I ran into the er barefoot, in pajamas with him still doing chest rubs and everything I could think of and within a split second they looked at him and grabbed him from me and took off running screaming codes. Still to this day, the scariest time of my life. They were able to stabilize him and gave us no answers as to why it happened at all just citing maybe it was a virus or maybe it was a fluke and he would've been a "normal SIDS case" had I not gotten to him in time. A normal SIDS case?? I will never forget that comment and how heartless and callous it was and how angry it made me. It was obvious that this hospital wasn't going to give me any answers or even care enough to try and find them at all. 

We followed up with his pediatrician after discharge and they ran tests and everything came back normal so they were stumped but knew it wasn't a virus due to all labs being perfect and they shared the same rage I did at the er care or lack thereof. I more than realize that the er is only meant to stabilize and I do thank them still to this day for saving him but the lack of all compassion is hard to excuse especially when dealing with a mother who almost lost her child in her arms. The pediatrician sent us to pulmonology and have their opinion on it because it never made any sense, this was the start of our specialist team. Pulmonology kept us on for a couple years, partly because I think they were just as confused by him and his presentation, the other part I think they felt "in charge" of it because his breathing was affected. However, it wasn't a pulmonary issue really at all, but what made it all confusing was the steroids he was prescribing for what he thought was an extremely rare presentation of asthma, actually was managing the real issue.

Over the next year from that incident, we noticed he needed steroids more frequently as well as he wasn't hitting his milestones. I was taking blame for the milestone delay for longer than I should've because I thought me swooping in and "rescuing" him at every sign of even slight distress was the cause. He wasn't even trying because he didn't have to, I was there. I had to take a step back and let him try and get angry and get motivated. That was hard for me but necessary. We realized though that it wasn't my fault, maybe a little but not entirely. At 14 months old he wasn't holding his own cup or bottle, he wasn't walking, he wasn't talking and crawling was minimal. The pediatrician kept telling us to give it more time and if it was the same by 18 months, they would put things in place. I didn't like that and my mom gut was already screaming alerts and I demanded therapy services immediately so he started speech, physical and occupational therapy then. Physical therapy noted from the start a low muscle tone and muscle weakness but we did get him walking. Occupational therapy just cited developmental delay and speech did get him talking but there was always and still is articulation issues and slurring. We were pleased with the progress he made though even though it wasn't perfect. He still continues all therapies today to keep his progress because everytime he would graduate, he would fall back and need to be placed again. 

Fast forward to around age 4 and we noticed he would sleep all the time. Literally. 18-20 hours a day. He would fall asleep in school and not wake to the point I was continuously called to pick him up. School thought he was staying up to late, but the entire time he was home he was sleeping. Things weren't right. We were referred to ENT and they found he needed tonsils and adenoids removed as they were extremely obstructive and they thought his sleeping was from sleep apnea, he wasn't getting good sleep so he overcompensated by more poor sleep instead of normal amount of good sleep. Made sense. They also discovered he had a large amount of thick fluid trapped in his ears and said this was the direct cause of his articulation issues with his speech because he was talking like he was hearing, underwater. Again, made sense. We did the surgery and it went perfectly except the slight complication from anesthesia but nothing major and we expected the instant results we were promised. Unfortunately, didn't happen. Things stayed the same but the Dr kept telling us give it time, his body has to adjust to the changes it just went through. 

Over the next year, he started complaining of lots of muscle pain. Legs especially, occasional arms and hands. We were dismissed and told growing pains. I get it, he was at the right age for them and I thought the same myself but it felt like more. His older brother went through them too but his brothers were only at night and sporadic, not all day everyday. I kept pushing and pushing and finally we had a Dr that looked at his entire history and not just the one complaint, and agreed something was going on. She listened and reassured me I wasn't crazy and initiated all the tests and referrals for specialists and I am still so thankful to her even though we are no longer seeing her due to moves, again army family here. Shortly after the pains started, we noticed him falling ALOT. Way more than a normal extremely clumsy child. He would never just trip, we could see his legs just giving out on him. That new development put everything into hyperspeed with trying to get to the bottom of it. The sense of urgency was there. While seeing all these new drs and going for labs almost weekly and hours long MRI scans and everything else, we noticed he was losing muscle mass, his muscles were literally disappearing. It was a visible change confirmed by measurements. 

The symptoms he was having as well as muscle loss, put us on the path of thinking we were dealing with muscular dystrophy. All the drs were so convinced and running every test they could to try and "catch it". I wasn't convinced, I was doing my own research and came across something called Myasthenia Gravis and brought it up to his drs but was very quickly told no way because he was too young. Everything fit to a T though so I kept all my information on it and kept researching it in case it came back up. Our primary sent us to genetics as well just to cover all bases she could think of and we found out that he does have Ehlers-Danlos syndrome and with that discovery, the other drs seemed to have just quit thinking that was it. There was no more to look into, we had a diagnosis and while it didn't explain everything, it made sense for alot. We aren't drs so we went with it just happy for an answer that was anything other than we were crazy, no we did not want our child to have afflictions but he did and we fought so long and hard for an answer and were so relieved to have an answer. We picked up care with ehlers and while other things were still prominent, we were only give the one answer and just got by as best we could. 

Four months into our Ehlers-Danlos diagnosis, we had the most alarming symptom come up. He could no longer open his eyes, he physically could not open his eyelids. When you would pull his eyelids open, his eyes would be looking different directions, never in line. I frantically called his Dr and she told us to immediately go to the ER and told us to not panic but we needed to get there asap and that we were dealing with something neurological. I ran him to the er and they took one look at him and immediately called ems to transport us to the bigger hospital that had a children's dept and sent him to ct scan telling me they were certain he had a brain tumor. It was a whirlwind and it felt like I was losing him all over again. I kept it together for him as he was terrified and needed reassurance himself. We took the longest hour ride in the ambulance not knowing the results of that ct scan and not knowing what we were going to walk into at the next hospital. We arrived and we're immediately admitted into Neuro ICU and his room was flooded with neurologists consulting on him and doing their exams. I still say none of them have children because they took 2 hours before telling me the results of the CT scan and thankfully, he did not have a tumor, but making a terrified mother wait that long with news that big was literal torture! 

After so many tests ran and exams done and consults, even from drs across the country consulting on him, it was revealed he had Myasthenia Gravis. Remember a few paragraphs up? Yep. I said it 10 months prior to this but was told no way. Don't ever discredit a mother, we may not have medical degrees but we know our kids and we love our kids with so much intensity that we will conquer all even the impossible, even what medical professionals couldn't do. The one that took us all by surprise was a first year medical intern ran the test for the HLA B27 antigen, heard of it? I hadn't either, but he came back a strong positive. We have retested it post Myasthenia exacerbation and it is still a strong positive so this is for real and not a fluke. He had a spinal MRI and it did show some lumbarizations and now scoliosis so we see rheumatology and orthopedics regularly as well as neurology and opthalmology and his therapy services. 

So far since his diagnosis in April 2020, we have been able to manage with medications and only had one issue with another hospitalization in August 2020, where his eyes did the same and he became unable to swallow or hold his head up. But despite that, he is doing well given the circumstances. He still sleeps alot, he still needs frequent rests, he has to be carried or ride in the wagon or cart alot, he has pain days some worse than others and his eyes are naughty more than we would like, but he is doing great for living with these diagnoses. Since starting the meds for Myasthenia, he hasn't had any breathing issues and we have stayed out of the er for that. Which is a huge blessing because we were having to run to the er for breathing issues and mass doses of steroids and breathing treatments and all that fun at least 6x a year since before he turned a year, so not having to do that for now over a year, is just beyond amazing!! 

We had no idea that we would be here today but here we are! From the easiest, perfect pregnancy to the easiest, fastest delivery, the healthy baby able to be discharged early, to complete turmoil and downward spirals. I don't understand how we got here, the drs don't, nothing makes sense, it doesn't make sense he has a disease that typically only 70+ year old men get. It doesn't make any sense and it's completely unfair, but he is so incredibly strong and amazes us daily with his resilience. We always say that he is the strongest boy we have ever met, we just wish he didn't have to prove it all the time. One thing is for sure, he has never once lost his smile, he is still our happy boy and smiles through all the trials and tribulations and he has no idea how much his smile gets us all through the dark times as well. This life is so hard, I can't lie or sugar coat anything, but he makes it oh so worth it!! ❤️❤️