Updated: Aug 19, 2021
Our trip to UPMC Children's Hospital of Pittsburgh was.. something else. I've been kind of avoiding writing about it because it was all kind of a blur. It seemed like we had to wait FOREVER to go but when your child's life is on the line 5 minutes seems like 5 days.
To start, I would like to say the hospital and entire staff was absolutely amazing. I don't think I can complain about any of the care we had there. If you're wondering why we chose to go all the way to Pittsburgh instead of somewhere closer such as Chicago or St. Louis it's simply because Dr. Escolar is director of the Neurodevelopment in Rare Disorders (NDRD) and she is rated one of the top doctors in dealing with MLD. Most doctors have either never dealt with a case like this or have only seen one or two patients with MLD. We don't have time to waste so we went right to the top.
September 27 we arrived in The Pitts, as I call it, to get checked into our hotel and ready for a long week of appointments and mentally prepare for whatever the hell we were about to walk in to. They rushed us in to scheduling quicker than any hospital we've ever dealt with because they UNDERSTAND that with MLD time is of the essence. They were trying to get Axel into this Enzyme Replacement clinical trial which would basically be him getting these injections once a week for about two years to replace the missing enzymes his body has. This is a trial so there is no promises but at least there was hope. Hope to keep him where he is motor-wise, or to at least slow the regression. He had to go through a series of assessments with different therapists and get scored on how good or bad his gross and fine motor skills are, language etc. They also did some testing on his heart. Since MLD affects all nerves and muscles pretty much every single part of his body is in danger. The other possible options was Cell Replacement Therapy (bone marrow transplant) which was a lot more risky but also had shown better results for those who were successful in the transplant.
The doctors, nurses, staff was really great in being thorough with their explanations on plans and whys, however I left feeling like I knew nothing. I was in such a fog the entire time being there I didn't feel like this was actually my life. People will ask "how was Pittsburgh?" "what did they say?" and honestly, I don't know. I think I just blacked out the entire time being there. Seeing all these other incredibly sick kids, thinking is that what's to come for us? Watching these other moms go on with their lives, wondering if they're feeling the same way I am or if you eventually become numb to the sadness? Thankfully Colby and my sister Tiffany was there to be the coherent ones, because I sure was not.
We were originally scheduled to leave October 1st but they ended up extending our stay until October 5th (I think) in hopes of hearing back about the trial (the trial is not funded by the hospital it's through another company so that's why the doctors at the hospital don't know right away). They said usually within 48 hours they get a response if your child is approved for the trial or not. The other factor on keeping us there was trying to get the hospital to approve more testing with our shitty Meridian insurance or getting the insurance changed which consisted of many notes and calls to Meridian from the doctor herself, Tiffany reaching out to another family that had this happen to them and their child regressing more because insurance would not allow treatment, reaching out to media and the senator to blast Meridian on sucking and not paying their dues and even offering to pay out of pocket for the testing (which by the way is illegal when you have Medicaid so that's great). All of which failed us.
So, October 5th came and still nothing. So they told us to head home and they'll call when they get an answer. So we left. Feeling no more accomplished than when we arrived, more defeated than ever and just not knowing what to do next other than wait.
Side note of being in the Pitts we did try to do some "fun" things such as visiting a dinosaur museum, the Pittsburgh zoo and eating out at a fancy restaurant for my birthday (which was spent in the Pitts) but it's awfully hard to have fun when you're visiting a place for such a reason. The way people look at you with sad eyes when they see you pushing a child in a wheel chair or having to stop what you're doing to start a g-tube feeding or administer medication is also not a good feeling. Also I hate the city. Any city is not ok, it was terrifying and crazy, people wear masks outside even when they're not around anyone and the roads are similar to a bowl of spaghetti noodles. I tried to drive there once and had to pull over to switch seats because I had a panic attack, so needless to say I am NOT cut out of the city life.
Meanwhile at the home front my brother, sister and some friends all pitched in on taking care of my dogs and painting the entire main living area of our house! It was so nice to come home to fresh clean walls and baseboards!
After waiting I don't know how long.. a couple weeks? The trial people had requested a meeting with the physical therapist that evaluated him and they were going back and forth on his score chart. We finally get a call from Dr. Escolar, I wanted to throw up waiting for the words to come out of her mouth whether he got in or not. Unfortunately, she had to tell us he did not get approved for the trial he scored two points too high to meet requirements for the trial (you want the lowest score). Seriously, two points?! I wanted to lose all control and cry and scream and cuss everyone out and do some major damage. Just when I thought that was enough to take me out she had to carry on to say she didn't think the transplant would be a good idea for him as it would be too hard on his body and he probably would not have a successful transplant. I was so crushed. I felt like we were at a dead end, what else is there to do to help him?? We can't just do nothing, that's ridiculous.
The doc and her team did work to adjust his medications to make him more comfortable and come up with a "3 month plan" to give us things to prepare for and what to work on until we were able to come back out for a visit once the insurance was taken care of.
It has only been a whirlwind since then, imagine Sharknado but also with lava and dinosaurs and wrecking balls with spikes probably some zombies too.. that's what our life has been like the last couple months.. I'll explain later.