Category Archives: Noonan Syndrome-Like Disorder

Rough Patch, Part Three

March 3, 2019 By in Healthcare, Noonan Syndrome-Like Disorder, Our Family's Journey Tags: , , , , , , , 1 Comment
Rough Patch, Part Three

If you haven’t read the rest of the story yet, start here.

We loaded our son into the car and left for the hospital. It was dark and rain was pouring down throughout the drive to the emergency department. Check-in went quickly. Our son was exhausted and still showing signs of difficulty breathing so it didn’t take very long to be seen. A chest x-ray was ordered immediately and we were settled in to wait for the results. No one seemed particularly concerned so we did our best to relax and wait. We expected to be given antibiotics and sent home.

The nurse came into our room and asked in an unusually timid manner if our son had been seen at one of the other hospitals downtown. We explained a consult we had at one point with an interventional cardiologist, but that we only went once and that doctor recommended against running any tests. I mentioned to her off-hand that we had also done several second opinions at Hopkins. “Why do you ask?” was the next obvious question. Micro expressions danced across her face, all showing signs of discomfort, and she pointedly avoided eye contact. We were to be transferred and they were deciding where. The doctor would be in shortly to answer any other questions. With that she ducked out, having not made any additional eye contact.

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Rough Patch, Part Two

February 25, 2019 By in Healthcare, Noonan Syndrome-Like Disorder, Our Family's Journey Tags: , , , , , , , 3 Comments
Rough Patch, Part Two

If you didn’t catch the first part, read it first.

We were waiting for many months for a call from Kennedy Krieger’s Outpatient Feeding Program. It’s not something I had mentioned previously; I wasn’t sure how helpful it would be. When the call finally came we were so excited. There was, however, a massive “but.” Our son had begun struggling with a new medical issue, ITP (Idiopathic Thrombocytic Purpora), and we weren’t sure how well he would do in the outpatient program given the need for weekly blood draws and hematologist visits. After speaking with the program’s nurse we concluded that, while difficult, managing his care on an outpatient basis was possible. If we were already actively in the outpatient program and he needed to be transitioned to inpatient they would do their best to have us transitioned to inpatient as quickly as possible.

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Noonan’s Syndrome and Heart Problems

October 9, 2016 By in Healthcare, Noonan Syndrome-Like Disorder, Our Family's Journey Tags: , , , 8 Comments
Noonan’s Syndrome and Heart Problems

Sometimes children with Noonan’s Syndrome are born with heart problems or develop them early in life. Because of this and other unrelated concerns, we’ve monitored our son’s heart since before he was born. This past week I was thankful we did. It’s not otherwise apparent that one of his ventricles is growing at an unhealthy rate. We’re expecting a call from a surgeon any day now to place a catheter up through his leg to measure the pressures inside of his heart.

I’m told this sounds significantly scarier than it is. My husband knows at least one person who’s undergone this procedure multiple times. That’s not overly comforting when your two-year-old is the one going in. I’m terrified honestly. We’ve recently discovered he has Von Hildebrandt’s Type 1. If they need access to his vein, that’s clearly going to involve some bleeding. The medicine challenge they performed a few months ago didn’t last as long as it should have. While they’re not ruling it out – they want to try again after he turns three – that does mean he’ll need two different drugs to help him clot after the procedure is over.

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Update – More Testing Needed

July 26, 2016 By in Noonan Syndrome-Like Disorder, Our Family's Journey, Uncategorized Tags: , , , Leave a comment

We went to the hematologist yesterday. They need to run more testing. According to the tests ran two weeks ago, our son does clot moderately slower than expected. They’re not sure why and the additional tests will hopefully provide some insight. Depending on the cause it may be easy to manage. I didn’t ask questions about what we’d need to do if it wasn’t easy. I don’t want to know unless I need to know.

It’s been tough for me because I wanted to believe I was wrong. I wanted with all my heart to believe I was paranoid and I had been nagging nurses to hold the gauze a little longer and check before they put the bandaid on after removing an IV for no reason. I wasn’t wrong. I’ve known for a long time he had this issue and while I chided the nurses to be cautious, I still denied to myself that there was a real problem.

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Update – A Rough Fall

July 18, 2016 By in Noonan Syndrome-Like Disorder, Our Family's Journey Tags: , , Leave a comment

No word yet from the doctor about the lab results which, frankly, is probably a good thing. About a week from now we’ll go back for an office visit and get the official word. If they haven’t called yet for additional testing they probably won’t. It’s still possible I might get a call but most likely there are no bleeding issues and the appointment will be straight forward. It’s definitely a relief not to have heard back with bad news even if there’s a small chance the call might still come.

The wound is healing. The kaleidoscope of colors has faded for the most part. Now he has a golf ball sized lump. While it looks bad, it’s almost reduced to the point you might expect it to happen from a random bump on the head. I’m looking forward to it going away entirely. With every bump and scrape, you get a funny look now and again from strangers. This particular injury has resulted in way too many uncomfortable encounters for my tastes.

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Crazy Week – A Rough Fall

July 13, 2016 By in Noonan Syndrome-Like Disorder, Our Family's Journey Tags: , , , , , , Leave a comment
Crazy Week – A Rough Fall

Not sure how many people know this. I certainly had no idea before this past week. Noonan’s Syndrome carries a decently high probability of having a bleeding disorder of some kind or another. Having a bleeding disorder can mean a lot of different things. Sometimes the bleeding is slow to stop. Sometimes the wound re-opens easily for multiple different reasons. I didn’t know any of this until our son took a spill face first onto the hardwood floor from standing height. He falls a lot but this one was different. A blood vessel in his head burst on contact.

Instantly he had a golf ball sized lump on his head. I wasn’t sure how serious that was so I was dialing the pediatrician when it gradually doubled in size before my eyes. Suddenly, I didn’t feel so comfortable waiting on hold. I called our emergency number and waited for the medics to arrive. When they came in the lump was about 90% of the size it would eventually become. They advised I take him in as a precaution so we grabbed my purse, both of our shoes, and loaded him into the ambulance.

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Back on the Curve

May 10, 2016 By in Noonan Syndrome-Like Disorder, Our Family's Journey, Uncategorized Tags: , , Leave a comment

Our son had fallen off of his growth curve about six months ago. Since he was getting close to two years old, he was tested for milk allergy. When his results came back they indicated he was likely no longer allergic to milk. In light of this new information, his GI (gastroenterologist) recommended we switch him to Pediasure Peptide 1.5.

At our last follow up our son regained his place on his growth curve. Now that he’s back to doing well we’re starting the tube weaning process. Due to Noonan’s Syndrome, we don’t expect it to be fast or easy. Truly we’ve been working on tube weaning all along. Our efforts have just been focused more on preventing bad things, like oral aversion, over forcing progress. We now believe all medical issues have been resolved to the point we can begin forcing progress without causing harm.

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Big Changes this Spring

March 7, 2016 By in Noonan Syndrome-Like Disorder, Our Family's Journey Leave a comment
Big Changes this Spring

Our son is two years old now and with that came the opportunity to check if his milk and egg allergies had faded with no exposure. A mistake by the lab prevented us from finding out the status of the egg allergy. The milk allergy, however, seems to be completely gone! That alone is good news but there’s even better news. We can finally try another formula. Formula options are extremely limited when your child is Failure to Thrive and allergic to milk.

Formulas can be mixed to different concentrations and it wasn’t appropriate to mix our current formula beyond 30 calories per ounce. The formula we’re transitioning to now is 45 calories per ounce. This gives us a lot of flexibility. Primarily, it’s allowing us to go from five feedings a day down to four. The last feeding of the evening was always while our son was asleep and it significantly worsened his reflux. We’re excited to see it go.

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Noonan Syndrome Awareness Month

February 1, 2016 By in Noonan Syndrome-Like Disorder Tags: , , , , , , , , 3 Comments
Noonan Syndrome Awareness Month

February is Noonan Syndrome awareness month, so I would like to share some information about the condition I’ve learned through my journey with our son. It’s a genetic diagnosis. Our son was diagnosed in late 2015 through whole exome sequencing. There are characteristic facial features for Noonan Syndrome and a large head size is common.

Many children with Noonan Syndrome need feeding tubes. Even if a feeding tube isn’t necessary they’re likely to need some kind of high-calorie drink or formula to supplement their diet so they can gain weight. Those with feeding tubes do have a reasonably high chance of outgrowing the need for one if they do not have an oral aversion.

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Unpredictable Digestive Hiccups

December 18, 2015 By in Noonan Syndrome-Like Disorder, Our Family's Journey Tags: , , , , , Leave a comment

It’s always so unpredictable what’s going to set our son’s digestive system off. You would think since he eats the same thing every day for most of his calories that he would be relatively consistent. You would be wrong, unfortunately. No matter how consistent we keep the external factors he has his own ways of surprising us.

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