Category Archives: Our Family’s Journey

The Hour that Changed Everything

October 17, 2015 By in Noonan Syndrome-Like Disorder, Our Family's Journey Tags: , , , , , , Leave a comment
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.

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A Scary Turning Point

October 14, 2015 By in Noonan Syndrome-Like Disorder, Our Family's Journey Tags: , , , , , , 2 Comments
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.

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Our Little Trooper is Now Diagnosed

October 3, 2015 By in Noonan Syndrome-Like Disorder, Our Family's Journey Tags: , , , , , , , , 4 Comments
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.

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The Agony of Waiting

September 27, 2015 By in Our Family's Journey Tags: , , , , , , , 4 Comments

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.

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Why I’m Thankful My Toddler Screams

September 25, 2015 By in Our Family's Journey Tags: , , , , , , , , 2 Comments
Why I’m Thankful My Toddler Screams

My favorite toddler in the whole wide world has decided for the last several days that screaming at me is the key to his happiness. He screams at me when he’s happy, sad, upset, angry, etc. It’s like he’s just discovered that he can speak in whatever volume he wants and the dial got stuck at MAX. Come to think of it, that’s probably exactly what happened. There isn’t enough caffeine or headache medicine in the house to help my headache right now.

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Life Goes On

September 23, 2015 By in Our Family's Journey Tags: , , , , , , , , Leave a comment
Life Goes On

As some of you have already noticed, I’ve been publishing a little less frequently this past week or two. This will probably continue through early October because, well, life happens. Our son is continuing to do well. We have a lot of doctors appointments in October, but nothing we can’t handle. Unfortunately, our son’s need for additional attention and care doesn’t preclude other things from happening.

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Undiagnosed

September 13, 2015 By in Our Family's Journey Tags: , , , , , , Leave a comment
Undiagnosed

I have a love hate relationship with our son being undiagnosed. On one hand it allows me to be confident whatever he’s struggling with is not on the list of common issues with a poor prognosis. On the other, there’s no specific medical term to tell people when they ask why he has a feeding tube, low muscle tone, and random spells of fever for no obvious reason. I have met other mothers who have children with similar problems in online support groups, but most people have never heard of the combination of symptoms we’re dealing with.

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Our 2015 Summer Adventures

July 22, 2015 By in Our Family's Journey Tags: , , , , , , , , 2 Comments
Our 2015 Summer Adventures

This is, for all intents and purposes, my son’s first real summer. We spent last summer struggling to help him gain weight, including an uncomfortably long hospital admission. Now that he’s doing better we’ve started exploring all of the awesome activities you can do during the summer!

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RQ, What Health Problems is Your Son Struggling With?

July 18, 2015 By in Our Family's Journey Tags: , , , , , , , , , , , 2 Comments

I was recently asked by a reader what our son is struggling with. I had avoided discussing it because I didn’t want to burden anyone with the details. I wasn’t sure if the specifics would be unnecessary, and I didn’t want to make anyone uncomfortable. I realize now that it would help people understand where I’m coming from if I shared more about his situation.

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I Can Work!

June 27, 2015 By in Our Family's Journey Tags: , , , , , , , Leave a comment

I found out today that I can finally work! I’ve been asking and asking, and they kept telling me they didn’t have anything. They found something I can do! The hours are flexible and the work is independent, so I don’t have to worry about coordinating around anyone else’s schedule. I’m so happy I can’t describe it. This one small thing, just being able to put in 10-20 hours a week, has completely changed how I feel about my life.

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