Here is Maximus’s Story.
Maximus was born with a rare genetic disorder, but it took months of pushing for doctor appointments, asking questions, and never letting him be forgotten about. This is Maximus’s story.
Maximus was born 4 weeks early via c-section after failing a fetal stress test. He scored 2 out of 11. He was weighing in at 33 weeks even though he was 36 weeks and no one could tell us why. We took home our 4lb 7oz baby unsure of how to handle a human so incredibly small. Mike (Maximus’s dada) went to buy preemie clothes, but even those were far too big.
By 3 months, he was loosely fitting into newborn-sized clothes and I was more mobile. With Mike back to work from paternity leave, I took on more responsibilities – like changing diapers. This is when I noticed something was off. I felt three little bumps on Max’s skin and knew this was not normal. I continued to watch them to see if they changed at all – and in the coming weeks, they had. They went from small, flesh-toned bumps to larger, purple lesions.
During his routine 4-month appointment, I brought up my concern to his at-the-time pediatrician. She reassured me and said they were “just birthmarks” and “nothing to worry about.” I continued to push because that didn’t seem right and she referred me to a dermatologist for “peace of mind.”
*Lesson for any parent: Trust your gut. Even if a doctor thinks you’re crazy, don’t be afraid to ask questions and push. If something doesn’t feel right, there may be a reason.
Here’s the Full Story on How We Got Here:
First Specialist Appointment; January 2022
I walked in with the idea that everything was fine, as I had been told by everyone, and was in complete denial that something might be wrong. Mike had asked, “What if he needs a biopsy?” The thought never crossed my mind and I told him that it wouldn’t happen – he was fine. The doctor came in and did an exam only to find more spots that were concerning – spots I had thought were actual birthmarks. She let us know she was sending in another doctor to look at them. My heart sank. The other doctor came in and did her exam. She said they don’t like to do biopsies on such young babies if they don’t have to, but neither could come up with an answer for what this was. She left and the original doctor returned to start the biopsy.
I covered up Maximus and nursed him as a distraction. He was young enough to where he wasn’t too distracted by sounds or other people. As the first shot went in, he let me know he was unhappy. I looked down at him and never once broke eye contact while they cut out a lesion from his skin. I didn’t ask many questions at the time, but when we got home I read the visit summary and my heart sank even deeper.
Second Specialist Appointment; February 2022
One week later I received a call saying the results were inconclusive and we needed to bring him in for a second biopsy. We immediately went to the office where they got a second biopsy. This time, while I nursed Max, he looked at the dermatologist over the nursing cover and was smiling and giggling with her. Here, I asked questions about what they were thinking. The doctor explained it was looking like infantile myofibromatosis (IM) or osteoma cutis. The concern with IM is that it was possible he could have a tumor somewhere internally and he may need surgery.
A few days later, I let Maximus do some unrestricted play when I noticed more lesions across his entire body. He went from having a few to having well over 20 in just a matter of days. I immediately reached out to the dermatologist who said we needed to get bloodwork done. We immediately went to the children’s hospital to get that done.
First Blood Draw; February 2022
This was the worst day of my life (at the time.) The phlebotomist could not get a vein and poked him multiple times before going and seeking help from a more tenured phlebotomist. At only 4 months old, this was more than either me or Mike could handle. We never wanted to have to go through this again…
Second Specialist Appointment; February 2022
Our dermatologist said we needed to meet with endocrinology urgently and after Max’s pediatrician acted like we were all insane, we fired her and moved on to a more caring and compassionate physician. After frantically calling, we got Maximus in the same day to endocrinology. Maximus was playful and patient as the doctor examined him. There were a number of options this doctor was thinking of, including cancer, and ordered more blood tests and a renal ultrasound. So back to the hospital we went.
Second Blood Draw; February 2022
The same staff was working this day and instead of trying to stick him again, they escorted us to the Pediatric Outpatient Procedures unit. Here they obtained an ultrasound machine to find a vein they could use. It was a terrible process and the staff struggled even then to find something. We stayed in the room after the blood draw concluded for nearly 20 minutes as Max nursed and fell asleep, while Mike and I fell apart.
The one blood test we were told would tell us if he had cancer or not was being held up. Only two machines in the world have the capability to test blood and the one it was sent to was broken. We never would have known had I not called and asked the lab what the hold-up was. After nearly two weeks the results were posted and the numbers were through the roof. Mike and I were beside ourselves.
Renal Ultrasound; February 2022
Maximus had his first renal ultrasound and was so fascinated by the machine, that he just laid there and watched the technician work. He was so good and didn’t even fuss though he was unable to eat for hours.
Third Specialist Appointment; February 2022
After meeting with our new pediatrician, the team of doctors determined we needed to meet with oncology. Those are words I dreaded hearing. We set up a virtual appointment and he ordered a full abdominal ultrasound and a chest x-ray.
The results came back and gave no information. At this point a full body MRI was ordered. It was nearly one month away. I called almost daily to get it moved up and managed to get it only two days sooner.
Fourth Specialist Appointment; March 2022
We were able to meet with oncology in person where he discussed his previous blood test results and said some numbers, while high, may be normal for a baby this age. We would use this as a baseline. Since it had been nearly a month since these tests were done, we were sent for more blood tests to see how Maximus was doing. While some were better (including the scary tumor markers!), others were worse (calcium) which lead doctors to believe what Max was experiencing was malignant hypercalcemia.
Full Body MRI; March 2022
The day had finally arrived for Maximus to get his full body MRI. He would be put under general anesthesia for the full test to be done. We were able to stay with him until he fell asleep and were escorted to the waiting room. It was a brutal few hours as we waited anxiously for our name to be called. When we finally got back to see him, our sweet boy had just woken up and was smiling as usual and giggling with the nurse. That’s our Maximus – ALWAYS happy.
First ER Visit; March 2022
That night, Maximus was running a fever and had swelling throughout his body. Instead of taking any chances, we rushed to our local ER where they decided he needed to be admitted. We were taken via transport to the Children’s Hospital and admitted into Oncology. Mike returned home to take care of our dog. I held Max all night so he could get some sleep. Though Maximus was beyond exhausted and not well, he had such an incredible disposition. He was genuinely happy to see every doctor and nurse that came in. They were able to rush his MRI results and all came back normal. We met with endocrinology and oncology who both determined he was no longer in their specialty and wished us all the best. (Yay, for not being malignant!) We were discharged the following day after observation and being fever free.
Back to the Drawing Board
We went back to the drawing board and spoke with our dermatologist who, truthfully, had been such a rockstar through all this. She submitted information regarding his case to fellow dermatologists from around the world. They all agreed it was appearing as osteoma cutis, when bone grows in the skin, and that genetic testing would be our next step.
Fifth Specialist Appointment, April 2022
Meeting with genetics, I was honestly wanting them to find nothing. At the time, I did not know a lot about genetics and thought that if he had something it would have come from either myself or Mike. While we had talked about having more children, I knew this would change that conversation. The doctor talked about a few things with us but ultimately said genetic testing was our best option. She had it narrowed down to one specific gene and wanted to test that one first. From there we could test him more and then test us once we had results.
We received Maximus’s results of a GNAS mutation. Both Mike and I were tested only to show neither of us had this gene mutation. This makes Max’s already rare genetic mutation even rarer. He went from being in the 38% percent of cases recorded down to nearly 2% of recorded cases. Once all the results came back we were told there was no treatment or cure for Maximus’s disease. The official diagnosis was GNAS mutation with osteoma cutis – it does not even have a name. They believe it will more-than-likely progress to progressive osseous heteroplasia. This is when bone develops in deep connective tissue and can lead to mobility issues, surgery, and so much more.
Maximus’s Story Continues
The Start of The Mighty Maximus Foundation; July 2022
Between his diagnosis and the start of TMMF, Maximus had so many complications. He was diagnosed with failure to thrive, iron-deficiency anemia, undescended testicles (which was corrected with surgery), and was hospitalized after another visit to the ER due to vomiting, swelling, and an ever-changing rash. (He was diagnosed with a severe milk allergy.) After overcoming all these complications, we were ready to get back to business to finding a treatment for Maximus. This is when The Mighty Maximus Foundation came about.
His story is not unique, but his condition is. Thankfully, we have a team of doctors and researchers who are curious about his condition and caring toward his story.
Through all of this, Maximus has continued to be joyful, happy, and friendly with every person he meets. People are always commenting on how happy he is and he has taught me so much about life already in his first few months on earth.
No matter how bad things get, always find something to smile about. It may be small, but it will be mighty. And that is my Maximus. Small, but mighty.
