What I am writing as our 22q story is only our own experience.
The reality is that some 22q11 deletion children die. They catch something that their immune systems cannot handle. Their fragile hearts give out. A mistake is made at a hospital and a crucial medication is overlooked.
We are blessed that none of these things are reality for us right now. That is not part of our story. I don't know what it is like to sit next to a breathing machine. I don't know what it is like to hear a crash cart called for my baby. I simply don't know.
This last year a 22q child that was very much a part of our community died because of complications, hospital error, and lack of communication between specialists. The heartbreak has been felt like a tidal wave through our community. That family lives one of my worst fears.
It is not that I don't trust doctors, I just know that when things get as complicated as they can be, things can easily go wrong. I know that the most medically invasive options is not always the best. I will not get sucked into trusting someone just because of letters that follow their name, they have to earn that trust. They HAVE to work for that trust.
When Isaac was first diagnosed my first impulse was to call the three mums I knew that had special needs children. S., H., and L. were so amazingly supportive. H. and I had long phone calls and visits where I cried. S. gave me tips about doctors. L. invited me to the Down's Syndrome group.
Wait. What?
So many times in the 22q community families are referred to the Downs Syndrome support networks. So many times it becomes a hot button. My kid does not have THAT. The reality is that children with physical markers of their genetic promise are discriminated against, publicly singled out, and mocked. We don't want that for our children. We put distance between that and our family. The reality is also that folks with typical children are putting that same distance between our children and theirs for the exact same reason.
Downs Syndrome and 22q11 deletion syndrome have LOADS in common. Hypotonia, heart issues, immune dysfunction, motor skill delay, speech issues, OT, PT, ST, IEP's, specialists, therapies, othering, discrimination, family tension, hearing issues....this list of things in common are more extensive than we realize. Chromosomal anomalies have issues in common globally. The reality is that it makes sense to connect our families and our children and support each other.
Once the initial shock wears off, consider it. I am grateful that I did so quickly because these families are still a HUGE part of our support network. It is good to have real life people that you can cry with and to, outside your own family.
After our inhumane treatment at the JerkFace's office, I was at my wits end. I don't get to that place often. I am generally a joyful, hopeful mama. But this was ridiculous.
We went to do labs that he requested. I still wanted my answers. The lab technichian actually injured Isaac's arm! She never even got a good draw, yet she blew out one arm, he was in tears, bleeding, and bruising. We left without the draw for labs. Because, F them. I went directly to our pediatrician's office, showed them the injury and his phlebotamist assessed the injury. Isaac could not even bend his arm for two weeks. She took the draw from his other arm, it took three sessions spaced over 2 weeks. Why? Because the requested labs required that much blood and Isaac's weight indicated that they be spaced out. !!!! The big hospital lab never even mentioned that! Or asked about his weight! I was pissed and grateful at the same time. Grateful for this tech. She called me later that night personally to check on Isaac and ask about his condition so she could research it on her own and make changes to how we do draws.
We always see her now. She always gets the draw. He barely even cries. Also, about 1/8th the cost of the big lab. Same labs.
In the two weeks that it took to get them all done, JerkFace's office called me three times to let me know how concerned they were that we left their lab and that we really needed to get them done. I explained each time what had actually happened and that we were getting them done. Each call made me angrier and angrier, but I stayed sweet. Why? Because being a bitch gets you crappy customer service especially from health professionals and my kid's health was on the line.
The nurse called from JerkFaces office a 4th time. The labs said to vaccinate him ASAP. Huh, I said, what exactly did you test for? What were the results? Could you send them to me? She told me no.
She told me no.
She would not explain, only that the doctor's decision was that we needed to get Isaac up to date on all his vaccinations as soon as possible. I asked if we should do one at a time or skip the live ones. She said there was no need to do that. Just get them. I asked her to send me the labs. She then told me our pediatrician could request them.
That's not how we do things. We get copies of everything. We see too many specialists to wait on fax machined requests. We don't make medical decisions of any kind without the data and gosh darn it I paid for those labs, Isaac was injured in their lab, and they had better tell me what labs were done.
After my experience in Iowa City I wasn't going back there, gee, I can Google 22q and read off the main website too folks. JerkFace said we wouldn't be allowed to see anyone in HIS practice (lie, we still see the endocrinologist). The two big 22q centers were thousands of miles away or may as well have been.
Then my online 22q mama friend K. suggested the 22q clinic in Minnesota.
What a blessing. They scheduled us in 3 weeks. They only do clinics once a month. After fretting about the drive and the time involved and who would watch the kids, my father in law offered to drive us up, pay for a hotel, and take the kids swimming all day while Isaac and I were at the clinic. Huge blessing. Huge relief.
We checked in at 7am into a suite and spent the day there. In one room. We saw, speech, nutrition, immunology, child development, ENT, cardiology, audiology, we had labs done, we had hearing tests, a cardio echo was finally done (still fine), our case manager nurse checked in with each new specialist and made sure we got lunch. At the end of the day (3pm) we ALL met in a conference room and discussed what each found. I also found out that Dr. JerkFace isn't even an immunologist. He does something else specialized and with pediatrics but not immunology and he was wrong about shedding and wrong about what the right way to go about vaccinations is and he ordered a bunch of tests that really didn't tell us much about Isaac's actual immune function. The real immunologist at MN, ordered those tests and had the results before we left.
Conclusion, Isaac is 60% deaf, maybe 100% and needs an BAER test to confirm in what way. Will need aids or surgery.
Heart is fine.
Palate is fine. All systems present.
Kidneys are both there and functioning.
All glands present.
Hypotonia is the dx reason for motor delay. Makes sense.
Low iron a priority. Referred to nutritionist.
Low D an issue, but willing to treat with nutritional plan.
Titers run for vax he has had, show fantastic immune response. Learned they could titer. Will use that.
Vaccinations should still be done with caution and wait on the live ones until he is physically stronger. 22q kids have different immune systems and sometimes they look like they work then don't.
Everything else fine.
I was praised for breastfeeding. They made sure everyone knew I was a breastfeeding advocate, would not back down, and that I intended to breastfeed into toddlerhood and practice baby led weaning. I was praised for baby wearing, by the physical therapist, and they all said Isaac looked healthy and was sweet.
The day was fantastic.
Except it wasn't' supposed to be. I was supposed to be devastated that he was dx'd as deaf. I wasn't. Should I be? I asked again if he should be retested. If the dx was a mistake. His deafness was the same as Chad's. He has so very few symptoms. Could this test have been mishandled like prior tests done at that same lab while I was pregnant? They offered to retest....but if it came back negative, Isaac would still be deaf, but our insurance would not cover hearing aids or the surgery! Insurance would only cover it if it was a genetic "defect". How messed up is that.
On of the fun things I was "forced" to do since I was teaching in person classes is recreate a wardrobe of appropriate outfits.
I have really struggled with this. One, I hate shopping. I hate shopping for clothes. I hate trying things on. I hate trying to try things on with three active kids. I hate wasting my time. I hate going to places where the clothes are ugly/trashy/expensive.
Yeah. I'm cool with a chunky sweater and a pair of jeans. Barefoot. Ponytail.
Still, my students won't take me seriously if I show up barefoot with cake batter smeared jeans. So I thought about what kind of professor I want to be. What we pretend to be, we can be closer to being? I no longer have the worry of getting pregnant again. I'm shrinking post baby, not expanding. So......
I started with Boots.
Added some skirts.
More chunky sweaters.
Some funky jewels.
A few white shirts.
Done. Totally done.
And then about six weeks in I started wearing a pony tail, jeans, and chunky sweaters. I kept the boots. They are rockin'.
It turns out that students respond better to a professor that is comfortable in who she is. Especially for Women's History. Still, I learned a lot about myself in this and it was fun. I have a closet full of really fun dresses and shoes and I started wearing earrings again.
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.
