I think most moms can remember the first time their babies got sick. How sad their sweet little faces looked. How they wish they could take all their sadness and pain away and just tickle them back to happiness. Luckily for most moms, the sickness would usually pass within few days and their babies would be back to their normal, run-wild, selves.
Now, imagine your baby being sick for months without any answers. Unfortunately for Tristan, that sickness didn’t pass and still hasn’t passed.
In late September of 2016, at only 10 months old, Tristan got sick and stayed sick. It started with a fever. He was fussy. He had open sores in his mouth. The pediatrician said it was just thrush and hand, foot and mouth. An antibiotic was prescribed. Things got a little better but never fully cleared up.
Then he got pneumonia. I was pissed. So before getting pneumonia, Tristan stayed home with me almost all the time. No day care, BUT I started get back into my workouts and going to the gym. During my workouts, I would take him to Kid’s Club. He would stay for about an hour, maybe an hour and a half. Within a week, he was sick. I found out an employee in the Kid’s Club had let him chew on a towel because he was teething and she thought it would soothe him. Who does that!? It’s not like the employee gave him one of his towels from home. I was taken aback. I didn’t know how to properly react, so I just left as normal and really let things sink in. We went to the doc. New tests. New antibiotics.
Then a bump appeared on his left cheek near his ear – along with more thrush. The pediatrician checked it out, said it was just a swollen lymph node, did some blood tests. Everything appeared fine. A different antibiotic was provided this time. But the bump wouldn’t go away. The bump looked as though there was a huge marble was under his skin. It would turn red and get hot. At one point he had five obvious bumps. He was aware of the bumps and knew when people would be talking about them. It was as if he was embarrassed.
Months of doctors’ visits followed. I have never been to the doctors’ offices so many times in only a few months. Months of blood work. Pneumonia on and off. Fevers reaching 106 degrees F without coming down despite having taken Advil and/or Tylenol. Finally, a biopsy was done since the bumps still wouldn’t go away with any antibiotic. The biopsy showed nothing.
WTF? What is wrong with my baby and why can’t any of these doctors figure it out?!?
All common and even uncommon bacteria were not found. Tristan had been on so many different antibiotics and got so much thrush from the meds, he often would not eat. His mouth looked so painful, he wouldn’t even let us feed him milk with a syringe. We would bribe him with popsicles and ice cream and even that wouldn’t work. His mouth would just bleed. And he would cry – which of course made us want to cry. We were so helpless.
Pediatricians, infectious disease, rheumatologists, ENTs, etc. They couldn’t figure it out. After 7 months of blood work, biopsy, retinal images, chest scans, pneumonia, ER visits, more blood work, more chest scans, more thrush, more antibiotics and so much more, and after exhausting all reasonable and sensical options, we turned to testing the most unlikely possibilities. We met with an immunologist in April of this year and he decided to test Tristan for an extremely rare genetic immunodeficiency.
A few weeks later, the results were in. He was finally diagnosed with X-linked CGD – chronic granulomatous disease. Apparently, I carry this disease (along with the guilt and shame that comes with it) which I didn’t know. It had never appeared in our family prior to Tristan so the doctors had no reason to believe he could have it. But he does.
To sum it up in a few sentences, basically Tristan’s body does not make the enzymes our bodies make in order to kill off specific common bacteria and fungi. He is prone to pneumonia, abscesses of the skin, tissues and organs, arthritis, and skin infections, among many other things. All he has to do is breathe in these bacteria or fungi to become infected and at risk for hospitalization, brain damage, organ failure and potentially death. Depending on where you get your info, some say up to 20% of x-linked CGD victims don’t survive past 10 years old. But, the average patient survives about 40 years.
Good news though, we – and when I say we, I mean the entire medical community surrounding us including our family and friends in the field – finally figured it out. The doctors could now work together on a proper treatment plan for him. And although, most of the doctors we have seen have only seen one case in their entire careers, those working closest to him are very well versed with the disease and how to approach his care.
His immunologist has a handful of CGD patients and his bone marrow specialists have dealt with this disease more closely and have a solid plan for curing him the most common and successful way known – bone marrow transplant. He is now on the right antibiotics and antifungals which he takes every day. His liver is closely monitored to ensure that he is handling the meds ok. He is growing! For a while he was considered “failure to thrive” which, by the way, is a crappy way to describe babies. Even more uplifting news, we recently found out my six-month-old baby girl named Jocelyn, is a perfect match and does not carry the disease. So, we hope to be moving forward with his bone marrow transplant! Exciting but scary but hopeful!
And, although he is still considered sick, this sickness WILL go away! He is a chronically ill child but there is a light at the end of this tunnel. And God-willing, by this time next year the BMT will be considered a success, his body will have not rejected Jocelyn’s bone marrow, his disease will be gone, and he will be fully recovered, playing outside in a sandbox under the sun like all children should!
I’ll be sure to keep you up to date with his progress and let you all know how everything is going. And if you have any questions regarding Tristan’s experience or know someone going through something like this, it sucks and I’m here. So please feel free to reach out.