In some of the mice studies for the genetic diagnosis Kiran has, it has been noted that two of the areas most affected are heart and brain. None of the other children that have been studied with this diagnosis have reported heart defects, so Kiran is unique in that way. But the brain abnormalities reported in others, along with the diagnosis of intellectual disability, are similar.

We just happened to see both Kiran’s cardiologist and neurologist on Wednesday this week. Gotta love those trips when you leave at 5 am. Kiran did not know what to make of me waking him up so early!

Neurology was our last appointment of the day, and it went exactly as I had hoped. We have only seen neurology a few times in Kiran’s life, because we have no reason to be seen regularly. We were following up with her for his unilateral flushing issue. And she agreed with the hematology/oncology doctor, that we have been chasing a cause for this long enough. We have essentially ruled out any serious cause, and Kiran has seen every specialist regarding this issue to do so. So we just accept that it is idiopathic, which means “of unknown cause”. It is just another thing that makes Kiran a unique, special little boy. Unless other symptoms pop up or it starts bothering him or increases in frequency greatly, we don’t need to follow up. One more specialist off the scheduled docket!

Our first appointment of the day was Kiran’s echo, and we got a special treat! Our favorite echo tech, who is retired but comes in to help on occasion, was there and available, so we got to have him for Kiran’s echo! But our new favorite requested echo tech is leaving next month, so we will have to find a new favorite once again. Still, it was so nice to catch up and have the calm, expert experience first thing in the morning.

Cardiology did not go as I had hoped. I think after years of hearing “Everything is stable, see you next year!”, I was lulled into a comfortable space, even though my brain knew that Kiran would eventually require interventions. It is nothing we weren’t expecting, and in fact, is exactly what we have been monitoring. The pressure gradient in the conduit that was placed between his right ventricle and pulmonary artery has increased, somewhat substantially. However, there is no indication the right ventricle is having to work harder yet, which would be an increase in size – a growth of that muscle, so to speak. Because of that, it is not something we need to urgently address. Dr. R said Kiran will probably need a cath lab intervention, to balloon the stent, in the next 12-18 months. The ballooning helps to increase the size of the space so blood can flow more easily, lowering the pressure. It essentially prolongs the life of the valve, because we don’t want to have to put in a bigger one (which is open heart surgery) until we absolutely have to. The bigger/older he is when we replace it, the fewer we will have to replace over the course of his life.

So, we do need to keep a closer eye on things, so we will see cardiology again in six months, rather than waiting an entire year. At that point, if things are stable, we will go another six months. If the pressure gradient has increased a lot and/or we see right ventricle wall growth, then it will be time for the intervention.

So the positive here is it is exactly what we knew was going to happen, and we have a plan in place to address it. This is nothing surprising and is just part of having these procedures with conduits placed. He’s in great hands with his cardiologist, who I trust completely. I was so thankful for his calm guidance and explanations. He is always good at taking the time.

It’s a long road ahead, but we journey together.

I was not anticipating a phone call this morning that would bring relief along with a complex emotional reaction after years – almost six, to be exact – of wondering and hoping for answers.

I’ll back up a bit. Two years ago, Kiran underwent whole exome sequencing, which is the most thorough genetic testing available, I think even still, but certainly two years ago. His genetic report came back with a misspelling on RAB11B. At that time, this misspelling was considered a “variant of unknown significance”, which basically means there wasn’t enough data at that time to say anything about it for certain. They would not say that the misspelling was responsible for Kiran’s medical issues.

Our genetic doctor at the time speculated that it made sense that it was – but cautioned that we couldn’t know for sure just yet – but it was a misspelling that was being actively studied.

Today, I got confirmation that they have indeed upgraded this misspelling to a “pathogenic variant”. This basically means that they now have enough information to definitively say that those with this misspelling have certain medical and developmental characteristics that are caused by it.

Kiran is still unique with his heart defect, as none of the other (3-4) known kids have complex heart issues. But this means we can look more confidently at the two studies we have to get an idea of what is in Kiran’s future. And hopefully, now that the misspelling got its upgrade, more people will be found that share the diagnosis.

I love definitive answers and new information, and it’s nice to have another piece to the puzzle – the biggest piece – as to why Kiran is who he is.

I made a decision this week that I can no longer shoulder any part of the burden of educating people or appealing to their emotions regarding this ongoing pandemic. It is not worth the toll it takes on me, and I am having to buckle in for another intense ride over here.

All of that being said, I am going to continue to share my experience and the difficulties the reality of this virus continues to place on my family.

A difficult decision was made this week, and it is one that is still making me angry and devastatingly sad. Kiran will not be going in person to the first part of his kindergarten year. We spoke at length with his pediatrician around this decision, and she validated that it was the right one for Kiran’s health and safety. We are pursuing homebound services, which means his therapists (and I believe a special education teacher as well) will come into the home and provide the educational and therapeutic instruction he needs, as outlined in his IEP.

Of course, this is not ideal. I was so excited for Kiran to go to kindergarten and learn alongside his peers. You can’t recreate the social aspect at home very well, though I am already thinking of ways to try, especially to support him in his communication goals.

I have already had to pivot my own educational plans in order to have Kiran stay home with me full-time, yet again. I am thankful I am able to take a semester off from UW-Eau Claire because the class I was taking this fall is also offered in the spring. I am still taking the physics course locally this fall, and I have other big educational items to tackle. It will be enough, so I knew something had to give.

I am already planning out a schedule and thinking about having an art day, a music day, etc every week. I welcome any input on how to make this a fun experience for Kiran. Due to being his virtually guided everything last year (preschool teacher, SLP, OT, PT, feeding therapist), I am intimately acquainted with all of his goals and the skills we need to practice. I have also, already this summer, started working on color identification and added in more naming identification practice.

I guess I am saying I continue to be dedicated to making sure he continues to progress and doesn’t get behind or decline in any big way, but I recognize – and this is the part I will continue to grieve – that I can’t give him the social experience, the connection with his peers, the ability to be around people, which he so loves.

I also recognize this, too, will pass. It will. I thought it would have by now, and it is SO hard to tighten the bubble again, something we also discussed with the pediatrician at length. In my household, we have still been taking mitigation measures. I still haven’t been to a restaurant or bar or really out much at all in general, and what I have felt comfortable doing will now cease for me. For our family, Kiran’s pediatrician recommended being very mindful of the risk anyone will bring to Kiran and making decisions accordingly. Until he can be vaccinated, we have to remain vigilant.

I know these are the decisions that we must make to keep Kiran safe, to protect his heart and his little body. But they are shitty decisions, and I’m tired of having to make them. I’m tired of having to explain them. I’m tired of maintaining boundaries. I’m just tired.