collectively coeXisiting (Blog Edition): Jami’s Story

Posted 01-26-2024
Photo by Erika Mills Photography

A beautiful family of 6 (a mother and father and their 2 sons and 2 daughters) together in their kitchen.

Q: Can you please introduce yourself?

A: Hi! I’m Jami- full time Wife, Mama, employee, volunteer – all the things!

Q: When did you first learn you are a carrier of Hunter syndrome?

A: I actually didn’t find out for certain until I was pregnant with my eldest Son. He will be 9 in March. However, I always knew it was a possibility. My brother, Codie, was two years older than me and was born with Hunters. I watched him struggle for many years before he eventually passed away. He was born in ’89 – it was difficult to get a diagnosis given how rare the disease is and unfortunately, there were not a lot of treatment options at that time.

I remember doing my 4th Grade science project on Mucopolysaccharidoses and that’s where I learned most of my knowledge on genetics in general…and my 50/50 chance of being a carrier. When my Husband proposed in 2012, I attempted testing. I am a planner at heart. When I say that, I mean the ‘annoying check list next to your laptop’ type of person. I wanted us to be prepared. However, given our medical and insurance system, I was told I needed a ‘medical reason’ to be tested and that would mean being pregnant. Otherwise, I would have to pay for the test out of pocket. Young and broke, that wasn’t an option for me. So, that brings me to 2014 when I found out I was pregnant with my Son, and around 9 weeks along, found out I was a carrier, and of course, he was a male.

Q: Has Hunter syndrome impacted your family planning journey? If so, how?

A: Gosh – so, so much! I may have already answered some of this in the above (I get a bit chatty!) Hunter’s syndrome impacted my life before I even began planning. Starting as a child, watching my Brother lose a part of himself slowly until he was a shell of who I remembered. Then, when my Husband and I began discussing marriage, having to have that conversation with him of what it could mean to have children with me. It felt unfair at the time, even still, but…I just thought: “GOSH! If I have to be a carrier – why can’t I have a disease that requires both chromosomes to be affected before I can pass it?” You know that awful feeling that your Spouse is signing up for your half crappy genes? Nothing his genes can do about it? Part of me thought I’d feel less of a way about the situation if both are genes were required before we could pass anything on.

Next chapter, you probably guessed, but he married me anyway, despite my warnings. A year later, we got to the ‘let’s not prevent it from happening’ phase. Just a few months after that, I saw my first two pink lines. I almost guarantee, if someone 50 years from now asked me on my death bed “What was the happiest time in your life?” I’d answer so fast; no thought required. It’s that feeling you get watching those lines slowly appear on that stick. Outside of meeting your child for the first time, I’m not sure there’s any other feeling that’s beat that for me.

I think I would have thought of ultrasounds in a similar way, it’s how I remember my first one. My second ultrasound ruined that for me, at almost 10 weeks, I had my first miscarriage. A girl – Turner’s syndrome and ‘just a fluke’…but, just my luck. Every ultrasound appointment after that, for every one of my children, just made me feel sick to my stomach for days prior. Waiting for bad news.

I had my D&C the Friday prior to Mother’s day, spent the rest of May-June having a mini breakdown, before I booked a last minute impulse trip to my happy place – Universal Studios can fix any bad feelings. We definitely couldn’t afford that trip, but I was sad…so, it was justified. It did the job too, my memories from that trip are some of my best. By August, I saw those two lines for the second time – we had apparently conceived my Son 4th of July weekend.

Chapter 3 – if I kept you reading this long!

My first pregnancy was a roller coaster. This one was a nightmare.

We saw a geneticist not long after I found out I was pregnant. I thought I was ready – I knew I had a 50/50 chance. I’ve lost enough coin tosses. The answer still gutted me. Hearing, not only that I was a carrier, but that this child I was carrying was a boy, all in one phone call…well, I’m not a crier and I cried. A lot. Let’s call it pregnancy hormones.

I remember that next appointment though with my geneticist, to go over my results. I honestly thought I’d researched everything there is to know about MPS. I was shocked to hear that there are two strands of Hunters. Mild and Severe. Of course, my family line carries the severe. I would never be one of the lucky ones that could possibly pass on some complications, but an otherwise, pretty lengthy life expectancy to my Son. I sat in that office just replaying my memories of my Brother, who was mostly not him anymore come age 8, but didn’t pass away until 15. He spent so many years in a hospital bed, not talking anymore, lost most of his hearing, stopped growing. He’d occasionally laugh, sometimes cry. SO many times I wondered – why is he laughing? Is he remembering something? Is he gone completely and it’s just a random bodily reaction? I don’t know the answers to these questions, even today. My geneticist didn’t either. When she asked if I had any questions, awkwardly enough, that was the only one I could think to ask.

Anyway – moving along. Now I know I’m a carrier – I know I have a little baby boy in my belly and we’re ready for the next step – testing him. I was told I couldn’t do a CVS test – given how MPS works, they need me to be farther along to obtain enough DNA to test so I have to wait for an amnio. That’s 14 weeks pregnant, minimum. (PS: ADHD brain here but how unfair is it that we have to endure these tests? And did any other Mamas almost pee their pants? Like, hello – pregnant, had to drink so much, couldn’t pee and you’re sticking an ultrasound wand on me and a needle in me attached to what looks like a stick shift just pressing around…RUDE!)

Back to topic – it took WEEKS to get my results back. Years prior, I told my Husband to remind me, if I was ever in this position, that I had already made up my mind on next steps . Medical termination was not something I ever wanted to consider, yet I had, for many years. I told my Husband, please don’t let me back track – if I’m a carrier and this child is a Boy with MPS – I’ve decided it’s best to terminate the pregnancy. Yet, here I was, in that position and I was keeping this baby. There was no way anyone was convincing me otherwise. I felt him, all the time. I’d connected. I talked to him when no one else was around. He was mine. Part of me wondered if that was selfish – it wasn’t ever a decision made based on if I could or couldn’t love a child with Hunters enough, I knew I could. For me, it was more- if I had the choice, would I want him to go through everything my Brother endured just so that I could meet him?

In those weeks while waiting, I’d come up with every reason. “Theres new medicine! I’d give him the best life. Is it ethical to make this choice for him?”

Thankfully, on October 7th, 2014, I found out I wouldn’t have to make that decision. My Son, Jaxon’s results, came back “normal”. I still have that voicemail. It gives me chills every time I hear it.

“I have your test results in and complete and very good news for you. Call me back and I’ll go over everything, but again, good news.” Mary Jo from the perinatal center probably doesn’t remember me, but I’ll never forget her name and I never even met her – just that voicemail. I had to shut my office door and BAWLED before I could even call her back.


I was ready for another child. Jaxon was 2 – he was everything. Smart, funny, the cutest thing – how could we not want another? But I wasn’t willing to go through that emotional rollercoaster again. THAT’S how we met IVF and learned about genetically testing our embryos. I also learned I would quite literally consider bankruptcy an option before I’d do this naturally again. We were fortunate in our retrieval, and I only ever had to do one – so bankruptcy never happened. However, the $30k or so that we spent for everything fertility, wasn’t something I’d considered when I thought of my adult life as a child.

In 2018 – we met our Son, Owen. He’s just as amazing as I knew he would be.

After years of paying for storage fees, NY state passed a law in 2019 that insurance companies would be mandated to cover fertility treatments. I now had 3 tries at transfers – we didn’t plan on having more kiddos. But…four embryos in a freezer that we’d already paid thousands for and now ‘free chances’? Yeah, we definitely gave it a go. I miscarried my first transfer. Second transfer came my twin girls, Mila and Elise. They’re 1 now –I’m just getting to know who they are as a person; I already know they’re just as fabulous as my first two.

But the IVF/Genetics Chapter? I feel happy to have closed that chapter of our life.

Q: What does the term ‘carrier’ mean to you?

A: I’ve overthought this too many times over the years. “Carrier” – it literally means someone that delivers goods or messages, right? What morbid person decided our message was to deliver our future children a defective gene? I think I’m still working this one out in my head – I wish I had a positive answer for you. I’ve been slowly working through all the feelings over the years when it comes to being a carrier. I’m unsure I’ve yet to make it past ‘angry’.

Q: If you could go back to before you knew about Hunter syndrome, what would you tell yourself?

A: I think I was more prepared than most. I wasn’t blindsided, it was all I ever knew, and I watched it every day. However, if I could go back 10 years, I’d tell myself “It’s going to be okay. You’re going to have to work a little harder than most to become a Mom, but it’ll happen. Your children will be kick ass kiddos, and every injection, every dollar, every ‘what if’ moment, will be worth it. You’d do it again.”

Q: Why did you join Remember The Girls?

A: I felt very isolated navigating the carrier world alone. It was so nice to see I wasn’t. There are SO many carriers for SO many different genetic issues.

Yet, outside of the social media world, anytime someone would hear I was doing fertility treatments, they’d give me the same two cents. “Your SO young! 26? You have so much time. God will help you when it’s the right time” or “Just don’t think about it – it’ll happen. You’re stressed”

No one even considered I was doing them for reasons other than, I can’t get pregnant. It was not their fault or likely even a rational feeling for me to have – but it made me so…angry. I just wanted to be able to talk to other women who understood.

Q: What is one word that comes to mind when you think of Remember The Girls?

Community. STRONG women. I can never just do one word. 😊