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.......
