Updated: May 23, 2021
2020 was the year most people would never repeat, but for us, January 2021 was when all of the crazy started.
Up until that point, we thought Damian was normal. Sure, he had heavy vomiting issues ever since he was born. But doctors insisted he was a "happy spitter" and that he would grow out of it. His development, across the board, was growing increasingly more delayed - but he would show so much determination some days to move that I was sure it was only a matter of time before he was running and playing like I saw his cousins of the same age doing.
Otherwise, he seemed totally healthy. Tall, skinny, with a round tummy and large head; he was perfect.
It wasn't until December of 2020 (when Damian was 18 months old) that the pediatrician said it was time to schedule a developmental evaluation and a basic blood test "just to see."
That blood test (which showed elevated liver enzymes) led to a repeat blood test in January (which showed even higher liver enzyme levels), which led to a gastroenterologist exam, which led to an ultrasound, which led to a phone call from the GI doctor telling me that Damian had an enlarged liver and spleen as well as a mass in his liver that would need to be checked out immediately. My stomach dropped immediately when I realized something more serious was going on.
I had already been noticing that month that Damian was starting to actually regress in his development. He had stopped pulling himself up to a standing position. He wasn't scooting around as much. He was starting to look tired all the time. His quick fatigue was especially noticeable during meals when he would slump in his high chair and rest his head to the side just after a few minutes.
In the days leading up to our first liver clinic appointment, I prayed hard for reassurance. And I felt like I got it. I felt like Damian was going to be ok.
Our First Hospital Stay (Early Feb 2021)
We were admitted as an in-patient immediately after the visit to the liver clinic on Monday, February 1st. We stayed through the rest of the week while Damian did daily blood draws, ultrasounds, visits from seemingly every type of doctor, and an MRI on his liver and brain. Ultimately they confirmed that Damian did not have liver cancer, which was our biggest worry at the time (seems so ironic now). I was so relieved, but also frustrated when we were discharged with very little answers and no direction, besides getting a liver biopsy scheduled for the following week ("just to be sure it's not cancer," they said).
It was during a follow-up appointment with Damian's pediatrician when we first heard the name "Niemann-Pick." The doctor said after going through the hospital report, it seemed likely that the Children's Hospital team was going to pursue testing for this rare genetic disease I had never heard of.
"Well, I wouldn't worry too much about it until they test further," he said, "there are different types and there are some people with the disease who live into adulthood."
What do you mean, there are some people who live into adulthood??
Against the doctors suggestion, of course I looked it up right away!! And I didn't see one of the 3 types that wasn't awful!
Damian's Grand Mal Seizure (Late Feb 2021)
The following weeks were nerve-wracking. Without a proper diagnosis (even after the liver biopsy) but knowing that there was something wrong and it was likely Niemann-Pick, I felt like I was just waiting for something bad to happen to Damian, but I wasn't sure what. On February 22nd, it happened. A sudden fever shot Damian into an intense seizure and landed us (literally, from a helicopter) back in Children's Hospital. It was the scariest day of my life.
We spent the next 3 days in the PICU, with Damian unconscious a majority of that time. They ran the gamut on his brain while we were there: CT scan, MRI, EEG, and a spinal tap procedure. Ultimately, they saw that his brain looked no different than it had a few weeks earlier in the previously done MRI. Visits with several doctors from different departments eventually led us to believe that this seizure was most likely triggered by a high fever that came from, of all things, an everyday stomach bug. Still, Damian's recovery went much slower than the doctors expected, and so we stayed in the hospital for a total of 9 days.
The doctors were especially concerned with Damian's feeding issues. Damian has always had problems eating, but mostly that his low muscle tone leads him to swallow his food whole, and he would often cough after drinking a sip of anything. So among all the other tests Damian did, he also did a barium swallow study, that showed Damian was having aspirations quite frequently, even when he wasn't coughing or showing signs of food going down the wrong way. "I am surprised you've never brought him in for pneumonia," the therapist told me.
Luckily, thickening liquids seemed to do the trick, and so the therapist was comfortable with Damian eating and drinking whatever he liked, as long as the foods were soft and the liquids (even water) were thickened. We were discharged the next day, after I confirmed that one of the MANY blood draws they had taken from Damian during our stay was for a genetics test that would finally confirm once and for all that Damian had Niemann-Pick Disease.
Damian's Diagnosis (Late March 2021)
March 22nd was the worst day of my life. I had been anticipating this appointment with the genetics doctor for weeks. I was expecting, like all the other doctors, to hear that Damian had Type B, which seemed to have a wide range of life expectancy in comparison to the other types.
But the geneticist explained that the specific gene mutation Damian had was not one found in Type B, it was typical of Type A (which is the most severe). Although the rate of degeneration changes from person to person, the prognosis is the same: everyone dies at a very young age. I was told to prepare for Damian to get weaker, to soon be needing a feeding tube and eventually oxygen. I was told there was nothing that could be done. "This doesn't end with him getting better; this ends in a funeral," he said.
I'm grateful that appointment was done over a video call - I know I would not have been able to drive home after that. In fact I remember spending the rest of the evening on the floor sobbing. Damian was so sweet and was trying to cheer me up the whole time. He is always so concerned when he sees me being sad.
Damian doesn't know he has ASMD. He is just a perfectly sweet, smiley baby. He loves to wave: at people, at cars, at his toys. He loves listening to me play the piano and then play the piano himself. He loves singing songs, reading books, throwing balls (and everything else). He loves Mickey Mouse. Whenever he sees me setting up the stroller, he excitedly shouts, "Let's Go! Let's Go!" (though it sounds more like "eh doh!").
Our schedules are busy with 6 hours of therapy a week (and it's about to increase to 9): speech therapy, occupational therapy, feeding therapy, child development therapy, and physical therapy. He works so hard and loves all the games he plays there. He is still taking seizure medication, which I'm hoping is responsible for some of Damian's progressive weakness. In January he was pulling himself up to a standing position, and now he can't even push himself up to sit. Since he hasn't had any seizures since the Grand Mal, though, we have been approved to start the process of weaning him off, so I hope we get to see some strength come back soon!
Damian still can't drink any liquid (including water) unless it has been thickened. He has recently starting coughing again periodically through meals though, so I'm in the midst of scheduling another swallow study to see if we need to thicken his liquids even more - I don't want to have to make Damian get a feeding tube any sooner than he needs to, though I know that day is coming eventually.
Making a Campaign
The day after "Diagnosis Day," I started researching everything I could. I attended a Zoom presentation on ASMD put on by the National Niemann-Pick Disease Foundation (NNPDF), I began talking to other mothers of children with NPD/ASMD, I scheduled an appointment with Dr. Melissa Wasserstein, the most-experienced doctor in the US for ASMD patients, and I made contact with the founder of the Wylder Nation Foundation, the only non-profit laser-focused on developing treatment for children specifically with Type A. I was told the same thing from everybody - there's treatment in the works, but it'll likely be done a year or two too late for Damian. The smallest sliver of hope lit up inside of me and I knew I had to do something. The treatment is in the works and the science is there, so it's just bureaucracy and funding standing in the way between me and Damian's future. That is something I can affect.
Working closely with the Wylder Nation Foundation, and seeing just how good people are as you all have selflessly rallied around my family, I am more confident than ever that we can get this disease treated once and for all. We are going to blow this thing up. We are going to save my precious baby.
I initially titled this blog post "Damian's Story," but midway through writing I changed it. Damian's story did not start in January 2021 when we found out something was wrong in his body. Our life with Damian began on May 24th 2019, when he was born at 39 weeks and 7 pounds exactly. And I believe his full story started even well before that.
This doesn't end "with a funeral." Damian is a hero, a hard worker, and a fighter. He is going to change his prognosis as well as that of the infinite number of other babies who will ever be born with ASMD.
The geneticist was wrong. There is something we can do. It is looking like in total, Damian's life is going to cost just a few million dollars (and believe me, he is worth SO much more!). We. Can. Do. This.
Please help me #SaveDamian