Into the Fire and Out Again, Part 2

I gave Isaac the middle name Waldren when he was born to honour my uncle who was also seen by many to be disabled. He didn't see himself that way. He was a husband, a pilot, a fire chief, a business owner, an early computer programmer just for fun, a car mechanic, and a great mentor and inspiration to anyone who met him. He was mostly deaf and paraplegic (paralyzed from the waist down). I say that last, because it was the least important thing about him. A lot of people forgot that about him after a first meeting. Seriously. He flew planes. Raced cars. Fought fires. He was a Civil War history expert with an artifact collection that the Smithsonian was interested in (according to family gossip). That's what people remembered about him. I hope that is also Isaac's legacy.

When Isaac was dx'd as mostly deaf, I was not freaked out. Living with a deaf person is easy enough. I grew up with it, Chad is mostly deaf in one ear, and it just isn't a big deal.  That resolved itself without surgery and I was grateful, mostly to avoid having Isaac go through a surgery.

His ear fluid resolving also meant we were down another specialist. At this point we are down to just one. That may change.

How did we get to that point? Rewind back to 2011.


It was May when we received the dx over the phone. MONTHS later we got scheduled for genetics. In the mean time I scheduled cardiology. How did I know to do that? Yeah. Online support groups.

We kept seeing GI, but we were dismissed with a clean bill of health because the new to us 22q growth chart said he was in range and not actually failure to thrive. At that point, I was pissed about that. They dx'd him as FTT and NEVER TOLD ME.  The GI is actually who had initially referred Isaac to neurology because of the closing early soft spot. They pushed formula on us. I had JUST finally gotten Isaac off of the nipple shields and on to a successful latch. I argued and held my ground. I would NOT give up a successful breastfeeding relationship. A couple visits in, lactation consultants later, I agreed to one week of fortifying pumped breastmilk. In that week? Isaac LOST weight for the first time and was super sick, vomit, loose stools, spit up, constant crying. On day 5 I tossed the formula can and went back to doing what we'd been doing.  I started monitoring fat content of my breastmilk and changing my diet to make it richer. This CAN be done and it does matter.

Cardiology. They didn't do an echo, but cleared him of any heart issues. All while saying, this is really strange. We are usually the ones to dx 22q, we've never seen a 22q child without major heart issues.

We've never seen a 22q child like Isaac has become a recurring theme.

We finally made it to genetics. Good grief. They knew less about 22q than I did at that point. I kid you not. They commented on his deafness and like the pediatrician referred us to government services. I said refer us to an ENT if you think there is medical reason to address a failed newborn screen. They didn't. So we didn't.

They did send us to an immunologist, or a jerk pretending to be one, and an endocrinologist.

The endocrinologist was fantastic. She ran all the blood tests and carefully explained each one. SHE explained the labs the other docs had ordered and their results. She was willing to work with us to address Isaac's needs nutritionally. AND she confirmed what I had known- breastmilk saved my sweet baby from a whole lot of other snowballing interventions. If I had kept going, or had no other choice but formula, he likely would have ended up with a G-tube, aspiration issues, and immune dysfunction.


Breastmilk sure is amazing.

Why isn't breastfeeding and/or donor milk standard practice for 22q babies then? WHY?

Because in the night when your baby is dying and your milk is drying up from stress, that's the last thing on your mind. It isn't up to the mums to be educated on this, it should be the doctors and nurses and specialists and NCIU staff making it the easy choice. Donor milk should be right there. If you are a nursing mum and know someone struggling with milk supply, especially if they have a special needs baby, don't hesitate to offer your breastmilk (unless you are a drunk, a druggie, or have a communicable disease.....then don't.....).

Ok, back to the story.....the immunologist. I insisted on seeing him. I wanted more data that I could not find online about what to look for and what I need to know to make decisions regarding Isaac's vaccines. Our ped would not clear our girls for their MMR without Isaac being cleared because of live vax shed. Have you ever heard of that? I had not. This "expert" said it was stupid and we needed to give all the shots right there and then to get him up to date and the girls too. Flu shots included.

No. First. We don't do flu shots. Second, offering shots to kids you don't have records on? Yeah. No.

He said we could not be seen as patients in his practice without flu shots because we'd be putting other children in danger. In response to my earlier question about the girls being tested for 22q because they had more symptoms than Isaac does? He said Isaac clearly has the deformities of the face of 22q and the girls do not.

We left.

Later he wrote in Isaac's file what a pleasure it was to work with such a well informed and caring mother. He is now known in our house as the JerkFace Immunologist.

To be continued.......

Into The Fire and Out Again, Part 1

A few weeks back I posted on facebook that being a special needs parent was like surviving a fire. It changes things. I had a bunch of panic texts and calls from folks who thought I mean our house burned down. Gah. I should be more careful with my metaphors.

Everything is a before the dx and after the dx. You are stripped bare, burned straight through, and if you come out again, you are a different person. Not everyone survives this transformation, it reveals your core. If you were a nasty, uncaring, horrible person, God have mercy, that will be worse. If you were a parent on the verge of leaving your family, you will. If you had a kind soul, that blossoms,  your too tender heart breaks and never recovers. Everything is amplified.  I have seen women broken. I have seen them rise out of the flames again. I have seen parents who walk away from their children in the NICU. Walk away. Forever. I have mums on the message boards for 22q leave when they decided to abort their babies.

My heart breaks a million times for each of these children. I do not doubt though that these sweet babes are in heaven and I pray their families find peace.

For us, the fire was intense at first and has settled in to a stand by on alert. Isaac's what if's were so scary. We got a phone call from our Neurologist, not a request to come and talk, just a phone call. He told us the results. Told us not to google, to wait until the genetics department could schedule us in 6 months. Of course I googled it, before I was even off the call, I was on the Wikipedia page.

Go there.  See. And think for a moment what that would be like to be told that's what your child has. Try searching images online. The journal entries that state what a limited life your child will have.

Then, go to the facebook communities.

I know the doctors all warn us to stay on the pub med pages, to stay on the "legitimate" sites, but in all reality, those do not give a complete picture. You know what does? The daily lives of families living with it, some with multi generations of it, full grown adults, geneticists and doctors chiming in now and then too. Pictures of the kids on their good days. These good days are by far more numerous than the bad ones. And the children who don't survive? They parents stay on to hold our hands, saints in my book, inspirations to all of us.

When I started out in these groups I callously wrote one day that reading the posts of the really sick kids made me feel scared and anxious, how could I be a good parent like that? Especially when my kid is basically thriving under close supervision (at first we had 4-5 specialists)? I got schooled. I got schooled hard.

I learned more from that simple exchange about words and how they affect people, even people you don't know. How could I be a good parent while scared and anxious? Welcome to special needs parenting. Those things do not negate being a good parent. They just become white noise to your daily life, intensifying at times.

From that point I was more careful about my questions. I was less afraid to share my concerns or weigh in. I wasn't kicked out of the group. This community was compassionate and forgiving and freaking downright amazing. I have not yet met a single other child with 22q IRL (though my husband attended a dinner with several), but these families are who I go to with my most sensitive emotions and fears. Fears about my child's life, about my mothering, about keeping my family from resenting me or Isaac. Being vulnerable. It changes a person.

As I got to know these families, I learned that as adults many 22q children go on to be whatever they want to be. College? Yes. Grad school. Yes. Muscian. Yes. Parents. Darn good ones. Artists. Truck drivers. Teachers......pretty much the spectrum of what ever anyone else can be or wants to be. Yes, some have medical conditions that limit some of this, but mostly they do what they want anyway.

I have come to think the docs should add stubbornness to the 22q symptom list. Tenacity. Will to prove everyone wrong all the time. Trust me it makes for a difficult toddlerhood, oh my, but it will serve these kiddos well later in life.


To be continued......

And this post proves I can post from my phone. Blogging Revived.

Upcoming Series

I was asked to write our 22q story. I didn't start it in time to get it in the book, but I figured I will get it out there anyway. This will be a 4 part story and will be published over 4 days, or so. I hope you enjoy it as much as I am loving getting back to blogging and writing!

Thanks!