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The Hour that Changed Everything

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

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

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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Why My Child Doesn’t “Look” Like They have Special Needs

I love this! It’s so well explained. I’m frequently in this situation with my son since he mostly struggles with eating and gaining weight. It’s not obvious to strangers he has a feeding tube, and his therapy has significantly lessened the harmful effects of his hypotonia.

Special Needs parents often get many comments about why their children “look” fine. Here is my answer to why that is for my children and many others.

Source: Why My Child Doesn’t “Look” Like They have Special Needs

The Difficulties of Being a Parent to a Child with Hypotonia

At six months our son was just starting to lift his head. At sixteen months his arms were still too week to support crawling, despite being in occupational therapy (OT) for over a year and physical therapy (PT) for three months. We did tummy time. We tried every trick in the book recommended to us. With the help of OT and PT he’s not falling further behind, but he’s certainly not catching up either.

He struggles with what’s called Hypotonia, or low muscle tone. He’s much more flexible than you would expect a child to be. He can put his feet up by his ears without even straining and he’s well over a year old. This flexibility causes him to need additional strength to keep his muscles in place, and he can’t make progress on physical milestones by himself because he lacks the strength to lift the weight of his body and head without significant assistance. Thankfully, with help he does get stronger. However, if you left him to his own devices he doesn’t work on his physical milestones like you would expect. In fact, he doesn’t work on them at all.

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