It’s been apparent for a while our son had medical problems. Until the diagnosis this month, we were in the dark about a lot of things. However, we still had enough information to know this would probably go on for a while and things would come up we didn’t expect. It took me by surprise this week when I was hit with grief not just once, but twice. I accepted our son had a chronic medical condition a long time ago. Why would I be so distressed at hearing bad news from his doctors?
Taking a Step Back
Having a child on a feeding tube is an emotionally difficult thing at times. No matter how hard I try, I’m frequently plagued by mom guilt about my child being unable to eat enough to keep himself alive. All of the feelings tangled up around our son’s feeding difficulties came out into the open today. There was no gentleness about it, the scab was ripped clear off the wound without mercy. There was a ton of notice it was coming, leaving the discomfort to steadily build alongside the anticipation.
My Child is Sicker Than Yours
I ignore it as much as possible, but every once in a while I stumble across a conversation involving this awful competition. It goes something like this…
“My child has hypotonia…”
“Oh, so does mine! She also has a trach and a gtube”
“Well, he doesn’t just have hypotonia. We’ve been struggling with…”
The discussion continues. By the end, the entire world knows both children’s full medical history, even if they don’t know their first names. What on earth is the point?
The Hour that Changed Everything
We found a doctor researching our son’s gene mutation and were able to get in and see her. It took the whole day between preparing to travel, traveling, and the appointment itself and was well worth the effort. We needed to talk to someone with a good understanding of our son’s genetic condition in order to move forward with the best treatment possible.
It turns out we’ve been taking excellent care of our son. Even without knowing his underlying disorder, we’ve still effectively treated all of its symptoms which can be treated. I’m sure this sounds underwhelming considering the title. Our son’s treatment plan was an important reason, but not the only reason to have this appointment. It was also important to help my husband and other family members progress through their grief and understand our son’s needs.
A Scary Turning Point
We’ve been through a lot with our son. He’s been admitted to the hospital a few times. We’ve been in and out of the ER to run tests only a hospital can run on short notice. So far we’ve come through with news that’s left plenty of room for hope. I’m terrified tomorrow’s going to be different. Now that we have a diagnosis, even though it’s a rare one, there are still going to be expected outcomes depending on how other children with the same diagnosis have developed.
These expected outcomes could all be wonderful. There are certainly other children with the SHOC2 gene mutation which have had feeding tubes when they’re young and have come off of them as they’ve gotten older (you can find Facebook support groups even for very rare diagnosis). There is a lot of room for concern, however. One of the main sources of concern for any of the Noonan Syndrome or Noonan Syndrome-Like disorders is problems with the heart. We thought his heart was just fine, but he’ll have to be followed by cardiology to make sure that doesn’t change.
Recovering from Crisis Mode
We made it! Dad has recovered enough from surgery to lift the toddler. The toddler has recovered enough from his cold to only need medicine overnight. I actually got a chance to take the REAL cold medicine last night. You know, the kind that not only cures all your cold symptoms but also knocks you out. Even if the symptoms were to somehow to break through, you still sleep like the dead.
The laundry and dishes were done over the last week and a half, but everything else took a backseat. You can actually see the path our toddler takes from one place to another. It looks like a little tornado meandered through our house on multiple occasions. Am I going to clean it up today? Maybe, but probably not. Today is the day for a victory lap! It’s time to celebrate making it through this most recent family challenge. I’m going to have coffee with a friend for at least an hour or two while Dad cuddles the little man.
Caregiving
This last week has been difficult. If you follow my Twitter feed you’ve probably seen me mention, the toddler and I both came down with a nasty cold. Dad’s surgery has left him unable to lift more than 10-15 lbs, which means almost everything but the toddler.
Finally got the little fella to sleep despite his #cold. Time for a #nap for both of us.
— Ashley Bergris (@AshleyBergris) October 5, 2015
So, the two of us have been having our own little mini-party while Dad does his best to help me without being able to lift the poor fella and tries to avoid getting sick at the same time. So far he’s been successful.
Our Little Trooper is Now Diagnosed
We now have an answer for why our son has been struggling so much medically. It turns out he has a genetic mutation in a gene SHOC2 which causes a condition called Noonan Syndrome-Like Disorder with Loose Anagen Hair. This is all new to us, we only found out about it yesterday. It’s been even more difficult to get our minds around it because Dad is still recovering from his surgery. From what I can tell so far the diagnosis is overall good news. Speaking to other parents whose children also have this condition, it’s quite possible our son will grow out of his feeding difficulties. It’s also not a degenerative disease, so whatever he accomplishes won’t be lost to the condition as he ages.
Our Family, Gov’t Style (Silly)
We have three people in our home, Mom (Me), Dad, and the Toddler. I’ve realized lately how much our family function resembles the structure of the U.S. Gov’t. Weird I know, but allow me to explain. The Toddler is most definitely President of our family. I’m Congress, both branches (I do what I want, or so I tell myself). Dad is the Supreme Court.
Mr. Toddler has the astounding ability to veto each and every rule I attempt to issue. He didn’t use this power quite so frequently, but as we reach the terrible twos it’s an almost constant battle. Thankfully, I can override vetos since I’m the ENTIRETY of Congress all wrapped into one (take that, partisan brinksmanship). I do have to be a little careful because the Toddler is not very fond of having his vetos overridden, and doing it too frequently results in even more vetos (meltdown, yikes). Don’t even get me started on executive orders.
The Agony of Waiting
We’re waiting on exome sequencing results to come back for our son. They’re scheduled to come back early October. We’ve been waiting 12 weeks just for this test. We were waiting a little over a year for them to agree to run the exome sequencing because every other diagnosis had to be ruled out first. Depending on the test results, each specialist will make their recommendations. They’ve given no hint as to what they will recommend. They can’t, because we have no idea whether or not we’ll get a diagnosis much less what the diagnosis would even be.
Struggling to Thrive 