My story starts in 2018. My husband and i decided that it was time to try for a baby. After months of trying to fall pregnant and it not happening, I finally got excited, my period was late but that excitement only lasted a day or two when the ugly aunt in her red hotrod reared her ugly head. Only this time it was different, the bleeding didn't stop and after 15days of continuous bleeding and it getting worse and not better I finally went to the doctor. I probably should have gone sooner but I'm stubborn. After an examination, the doctor was afraid that i might be having a miscarriage, although the pregnancy test results showed it was negative, she had me go to the OBGYN.
That was the day I found out that I had PCOS and that the reason for my bleeding was a ruptured cyst. Some medication had that all fixed and with the OBGYN's assistance we came up with a new plan to try and get pregnant. We knew due to PCOS it would be difficult but not impossible so we persevered.
Happy news came in 2019, I was pregnant! I won't lie, it was horrible, my "morning sickness" lasted all day and it never went away. It was so bad I lost weight during my pregnancy. Through it all I was excited about meeting the little one we were finally blessed with.
Sadly at 18weeks, I started bleeding. I had a placental abruption, fortunately it was small, a few weeks of bed rest and all was well. We found out it was a boy at 20 weeks, he was shy and was hiding it from us. All was well. He was growing beautifully, infact maybe a little too well. At 36weeks we were told he would be too big to deliver naturally and with my diabetes it would be too dangerous to carry full term. We made our appointment and at 38 weeks we went in for a c section.
Alexander was born Feb 2020, however he wasn't breathing. After four tries to get him to breath on his own they put him on a ventilator. They soon realised that something was wrong with him, xrays showed he was born with a broken leg. They also noticed that he didn't move like normal babies do.
Blood work was sent in but no answers were found. Eventually his Peadiatrian clinically diagnosed him with a Congenital myopathy. He informed us that on the ventilator, if we are lucky that he would only have 6 months to live. Words could not describe our grief. We decided to not give up on our little boy, as long as he was fighting, we would fight with him. So we started on a journey to find answers, and also on a journey to get him home. He was in the NICU for 3 months before he got the surgery to have a gtube and tracheostomy placed and on his 112 day of being in hospital, he was finally sent home.
My husband and I had to suddenly learn how to not only be parents but how to take care of a critical patient.
Since then we have been fighting, trying to get him stronger, to get his muscles strong enough so he could start breathing on his own. He had daily physio that we learned from his therapist. The changes were small at first. He started lifting his arms, something he wasn't able to do for 3 months prior. Then we managed to get him off oxygen. Slowly he was showing signs of improvement. This baffled the doctor because a myopathy doesn't behave this way.
We tried finding answers and after a whole exome sequencing didn't bring up anything, we decided to go to a neurologist in the hopes that he would be viable for a muscle biopsy. There the neurologist said that he doesn't think it is a myopathy and sent us to do an EMG. He was right, Alexander had a Neuropathy the entire time, however things also didn't look up since patients also generally don't improve with Neuropathies either. We refused to let that stop us and continued. Over time he has been able to start moving his fingers, move his legs and with minimal support has been able to sit.
Alexander is now a year old, compared to other children he is far behind in his milestones. We have never heard his voice and most of his life he has spent in pain, but he is a miracle child, he always has the brightest smile on his face and he keeps fighting.
He has defied the professionals who gave up on him and will probably soon be able to come off the ventilator.
He has taught me to never give up.
Xoxo
