6 months: The Good and the Bad

6 months (3 adjusted): The Good and the Bad.

I cannot believe half a year has gone by! With Marco spending 4 months of that time in the hospital, I feel as though I’m only just beginning to know my son, yet already I am back at work. Thankfully, I am able to work from home and Marco is being cared for by family, so the transition hasn't been too awful.

My last update, Marco had just been readmitted for a common cold - he spent a total of 3 weeks in the hospital for that, two of which was intubated, and since then we have been on quite a roller coaster ride. 

Actually, it's been more like the start of a roller coaster ride: gradual increase in happiness and health, and then a dramatic turn down with negative news in the past week.

Let's start with the good: 

Tube - no more!

Marco is healthy, has remained out of the hospital and is eating 100% through a bottle! No more feeding tube! 

It was kind of like when you finally get tech support on the line, only for your issue to miraculously fix itself. We were struggling for awhile trying to decide when was the right time to switch from an NG tube (nasal gastro - going through the nose into the stomach) to a G tube (surgery to place a tube directly into the stomach). NG is less invasive, but it's a temporary solution as kids tend to pull them out often, they get in the way, they require more maintenance, etc. So most long-term tubers eventually get the G tube (or a variety of that). 

Marco had pulled his tube out 4x in one week, which was so frustrating (and so scary the first time we had to replace it), plus we were scheduling a surgery anyway to fix his hernia and to get him circumcised, so we figured may as well get the G tube at the same time and make our lives easier. We had just finally made the decision and scheduled our pre-op appointment with the general surgeon... when he started eating! We had an appointment with our Feeding Team at CHOP and it just kind of clicked for him - so amazing.

Health and Development - so far so good

My happy little boy is smiling, following us around the room and complaining when left alone. So good. Plus, aside from the hernia surgery, the only real health issue we're facing is his chronic lung disease (i.e. weak lungs). We're on a preventative inhaler 2x daily to keep his lungs open (in case he gets sick, this will help minimize the risk) and he has gotten three out of 6 doses of the RSV vaccine. Didn't even know this was a thing until now, as it is only available to at-risk kids - which is so upsetting as both my older boys were hospitalized with it! RSV is scarier to me than COVID for my babies, so having this vaccine is such a relief. It's not 100% effective, but any bit of preventative support helps. 

Day Care - family is everything

We had originally petitioned for nursing care through our insurance. We were approved and were struggling to find a nurse (there is currently a shortage as so many parents want to avoid medical day care due to COVID) - but then he started eating, so a nurse was no longer medically necessary. This was, of course, one week before I was scheduled to start work - so of course we were a bit frantic. Thankfully, family came through and we have the perfect set up for our little man.

Medical Care - integrated care team 

I cannot say it enough how fortunate we are to live near CHOP. Marco's medical team has been nothing short of amazing. We're seeing so many doctors: speech, GI, nutrition, pulmonary, urology, general surgery, neonatal, early development, PCP, NICU - and they are all connected. We even got a Care Team coordinator to help with scheduling and organization as needed. 

 

Now the Bad. Capital B.

Marco has a very rare genetic disorder that may manifest as anything from developmental delays to non-verbal and unable to live alone. 

[NOTE: I’m repeating what I’ve been told as I understand it- that said, I’m super new to this and don’t understand the science- so if you know more and you see inaccuracies, please help me learn!]

It is so rare only 47 people have been studied. Even those 47 people do not really have what he has, but they have portions of what he has. Let me try and explain.

He has a deletion in 17p13.1.

17 = 17th chromosome

p = the shorter of the two chromosome strands (q is the other one)

13.1 = the section on the strand that is missing

Within 17p13.1, he has roughly 200kb of data missing out of roughly 4.5mb - so relatively small. Of the 200kb missing information, there are only 2 genes missing of importance: KDM6B and CHD3.

There is one study done for each of the two genes - in 2018. KDM6B (12 people) and CHD3 (35 people). Of those people:

100% had developmental and speech delays. Several had Autism and/or Epilepsy. Many had severe intellectual disabilities, including non-verbal.

What does this mean? Marco will be delayed - but that could mean so many things. That could mean slight delays and he catches up by age 2-3. Or that could mean he is non-verbal and stops brain development at 6 months of age.

The range is huge, the research is almost non-existent. The only thing we can do is start Early Intervention and wait to see how this genetic deletion will manifest in my sweet boy.

It is heartbreaking. Scary. And will drive me crazy with my inability to prevent or mitigate damage. At any point in my son's life, it could turn bad. There wont be a time when we can stop and breathe, because there is not a single person in the world with his exact deletion.

I've joined a Facebook group for 17p13.1 - but remember, there are 4.5 million bits of data within that one small section, and any of those can be affected (deleted or duplicated) - so the 50 people in that group do not really relate to me aside from the bond that special-needs forms. I joined a group for the two genes separately - but most of those families have partial deletions or duplications of those genes - so again, they do not really relate.

I'm a bit lost and I'm trying to push it to the back of my mind, as there is really nothing I can do.

Thankfully, I've started work this week, so that's a welcome distraction.

I thought our journey was coming to an end, but it turns out we're just getting started. Stay tuned for more of Marco. <3