As I write Milo’s story, I will have to pause to change my son’s diaper several times as we’re in the process of “getting his poopie out”. It’s a very common thing to say around our house. We have normalized the saying, “Milo, it’s time to get your poopie out”, otherwise known to our family and friends as enema night. Our beautiful son Milo is a strong and brave Hirschsprung’s Disease warrior – much like your kiddos. And he also has something a little extra – our son had an at-birth surprise diagnosis for us. He has an extra 21st chromosome, Trisomy 21, better know as Down syndrome. Hi there, my name is Ashley Matthews, aka, “Milo’s mom”!
Milo was born on November 9th, 2018 and his birth story honestly brings back a lot of emotion for me. I had preeclampsia, was induced and spent three days in labor. It was a very intense experience, but we had no idea how intense our life was about to get! As soon as he was finally born I deliriously heard the nurse announce he had markers for Down syndrome. She said, “I’m sorry, this is never easy news to give.”
Looking back, it was a mind-bending, life-changing moment, to say the least. That exact moment has been the one, single catalyst for the transformation that has taken place for our little family of three ever since.
My husband looked right at me, didn’t flinch and said, “well, that’s alright!”. But the shock was still reverberating when he was whisked away from us and taken to the NICU because he wasn’t breathing like he should be and had started to turn purple. Once I was stable enough to be wheeled to the NICU to see him, he was on oxygen and hooked up to every tube and monitor you can imagine with an IV in his head! This was NOT in our birth plan! All I could think was HOW could this be happening?
Over the next ten days we watched our newborn baby be put through every test, poke, prod and much, much more. He appeared to be strong and recovering from the lack of oxygen nicely, he was breathing on his own by day three, but we knew something wasn’t quite right, he was having a lot of trouble eating and pooping and a few later he started to throw up bright green.
I had gone to pump in the mother’s room and I’ll never forget my husband Devin knocking on the door and the sound of his voice scared me. He said “they’re having to transfer Milo to Brenner’s, something is wrong.”
They told us that he may have Hirschsprung’s disease, and that it is more common in kids with Down syndrome. Brenner’s Children’s Hospital is in Winston Salem, NC and we were very lucky to be close to a hospital that could care for him and we were checked in to the Ronald McDonald House across the street.
Of course we’d never heard of Hirschsprung’s Disease before. “It’s rare…1 in 5,000, and it’s incredibly serious. The bottom portion of his colon didn’t develop properly and has missing ganglion nerve cells. It causes the inability to pass stool. The disease is very complex, and has no cure.” The only option was a 7.5 hour pull-through surgery on our 10 day old baby.
We came to find out through biopsy that Milo had short segment Hirschsprung’s and had a “successful” pull through. He immediately started to improve, eat better and stool on his own so two weeks later we were finally able to take him home and enjoy life with our newborn outside of hospital walls! But it wasn’t long before we were back in the hospital because he couldn’t eat and was crying like he was in pain. We learned very quickly that HD causes all kinds of complications like extreme gas, constipation and upset stomach (spitting up easily). We thought the pull-through would be all he needed to poop normally, but unfortunately that hasn’t been the case for us. We learned that it was very hard for him to pass “trapped” gas on his own, so he was becoming extremely distended after everything he ate and would start to scream uncontrollably, it was AWFUL. We started doing enemas because he could barely push any stool out on his own – and just like that, every other day enemas became our life for years to come.
The more we learned about HD, and as he grew, it became a little easier and more routine. His HD journey has been primarily one of enema maintenance, gas and distension issues, food aversions, the one or two a year scary hospital admission, and/or the necessary ‘all hands on deck’ rectal irrigations, but all of that changed in August of this year when he had a flare and the enemas were very difficult to push out for more than a week. He would throw up every time, and cry in pain. We were worried it was enterocolitis but the x-ray didn’t show impaction, but his colon was very enlarged and even with the routine enemas, completely full of stool. His doctor said it may be time to try the botox treatment and even though my intuition told me this wasn’t the best plan of action, we decided to give it a try because most of what I had read through the Hirschsprung’s facebook group showed some improvement, typically needing more than one round, but overall good results long term.
My intuition was spot on because we unfortunately experienced an atypical reaction and almost immediately after, started the battle with the dreaded “rash” – chemical burn wounds – in an ongoing, maddening capacity. We had ED trips, wound care team, multiple consults, nurse help and would get it almost healed and then the constant stooling would begin again where he would poop every 20 minutes for hours and no matter what method we tried – crusting, creams, stoma powder/barrier spray, drying out, even wound dressings – nothing would hold up to the frequency of stooling. I have never felt so defeated in my life to see my sweet boy in torturous pain. We were exhausted, having been denied Medicaid twice and my companies insurance denying an in-home aide, I had to take unpaid FMLA leave from my job. My husband co-owns his business which is lucky in our case because the three of us were unable to really go anywhere for almost 6 weeks straight. At around the 2 months post-botox treatment mark, it started to wear off some and we were able to get his bottom healed up and back to some semblance of normalcy for us but what we experienced was the reason I contacted REACH to begin with.
There were many days that I didn’t get to eat anything until maybe 2 or 3pm and not realized it. I was at my limit of stress and burnout because there was nothing else we hadn’t tried that would help him and we were stuck in nothing short of a nightmarish, vicious cycle of extreme lows and then false hope that we were turning a corner just to have him back at square one a few days later. I ultimately had to quit my job I’ve had for the last eight years because I had to fight so hard to pull myself out of a rock bottom emotional state, over and over, for myself, for Milo and for my husband Devin, and I couldn’t keep up with the demands of my job on top of everything at home. I had to intentionally, every single day, remember to take care of myself so I can be here for the long haul, for him. Being a medical momma has reiterated the absolute necessity of my physical, mental, emotional and spiritual wellness as top priority because without it the people that depend on me suffer.
It occurred to me that I’m not alone in this. We were in some very desperate times and even though we thankfully have a lot of family support around us, we felt so alone and isolated because it didn’t seem like there was anyone that could help us or could understand exactly what we were going through. Every provider we consulted worked in a silo and we couldn’t get collaboration of care on not only Hirschsprung’s but Down syndrome added an entirely separate layer of complexity. So, one night I sat down and wrote out an extensive outline of every single bit of information I had about Hirschsprung’s and Down syndrome and declared to my husband that I would create a website that has all of the information that we’ve had to piece together for five years now so families like ours can have a dedicated space online for the two of these life altering diagnoses to exist together.
The difficulties we experience with HD is different than neurotypical kids with HD because of Down syndrome, and vice versa. We deal with low tone issues, level of understanding of what is happening to him, not being able to communicate to us what hurts, extended years of potty training, concerns that when he is in anyone else’s care other than ours that they know what to look for with signs and symptoms of a potential emergency situation and more. Our IEP’s are extensive. Having a child with Down syndrome + Hirschsprung’s is a combination that has proven to be incredibly hard to stay in a balanced state of mind-body-spirit because of the multitude of challenges.
I sent a message to REACH because their website has so much valuable information about HD and wanted to see if they had any resources for DS+HD that I could link to and the founders, Eric and Isabelle Schnadig emailed me back rather quickly. They have a 17 year old son who has both diagnoses and we met via zoom and Milo, Devin and I got to meet Adrien who is as sweet as they come and has quite the story himself! With total colonic HD, the Schnadig family established what I have come to realize; that the Down syndrome diagnosis is actually secondary to the medical needs Hirschsprung’s necessitates, and awareness and research towards a cure with more providers that deeply understand the complexities of the disease is of the upmost importance. DS is a very close second, so together we decided that adding information about the combined diagnosis to the REACH website would be the best way to get this valuable information to more people and utilize the clinical providers on the REACH HD board to ensure the resources and advice is properly explained and backed.
HD can be ruthless and unforgiving. The impact REACH is making on awareness and advocacy for those of us in this community and beyond is astounding. My goal along with the information about dual diagnoses, is to provide resources for parents on finding your support team, taking care of yourself, and building a stronger DS+HD community to have a safe space for parents to gather online to vent, get their questions answered and share successes.
I’ve been through some seriously difficult times and I dare say the most recent one ranks up there pretty high, but I’ve also learned so much about resiliency… that I can do incredibly hard things over and over and over again because I have to and because I will do anything for him. Our son is the strongest, brightest light of anyone I have ever met, and I am so proud to be his mom. My hope is one day Milo sees these photos, hears these stories, and knows he can persevere through anything thrown his way.
With so much love, Milo’s mom.