BellaOnline Forums Family Special Needs Children Just found out my niece has SMA

Spinal Muscular Atrophy...Nothing about that sounds good at all. She's nearly two years old, but although she's incredibly smart everyone noticed she could be out-crawled by a sloth. But she DID crawl. She even started walking with a wall for support, but that stopped a month or two afterwards.
Her parents sent in her blood to be tested, and the results say she's SMA type 1. Has anyone else encountered this? As soon as I heard she may have SMA I looked it up, and from what I've read I would have described her as a type 2 for sure. She has no problems swallowing, and for a short time she actually DID walk a bit. She has no problems talking either, and can pick up and move things with her arms and hands just fine.
She's going to physical therapy, my mom (her grandmother) told me over the phone how she can hear her in the other room saying "Streeetch, streeetch," repeating what she learned at therapy. As I said, she's a smart one. I don't view it as her life being over, except that she's been diagnosed with type 1, and at least from what I read type one can often lead to death. I'm worried for her, will her condition deteriorate because she has type 1, or what? Thanks for any input you can give me. She actually shares my middle name, so oddly enough I feel...Not quite responsible for it, but connected on another level, if that makes any sense.

Gray i'm sorry to hear that,
I wish your family well, it has to be ruff on every one. hope this can answer some of your questions;
Spinal muscular atrophies are inherited diseases in which cells in the spinal cord and brain stem degenerate causing progressive muscle weakness ans wasting. Symptoms first appear in infancy and childhood. The muscle weakness of acute spinal muscular atrophy(Werdnig-Hoffmann disease) appears in babies 2 to 4 months old. The disease is inherited in an autosomal recessive pattern, which means that 2 nondominant genes are required, one from each parent. Children with intermediate spinal muscular atrophy remain normal for a year or two and then develops weakness, worse in the legs than in the arms. They don't usually develop respiratory, cardiac, or cranial nerve problems.THE Disease progresses slowly
Chronic spinal muscular atrophy begins in children between 2 and 17 years of age and worsens slowly, so people with this disease live longer than those with other types of spinal muscular atrophy
Diagnosis and treatment;
Doctors test for these rare diseases when young children develop unexplained weakness and muscle wasting.Because these diseases are inherited, a family history may help make the diagnosis. The specific faulty gene has been found foe some of the disease. No specific treatments are available. Physical therapy, wearing braces, and special devices can some time help
Info came from The Merck Manual of medical information

Dear Grey,

It does make sense being connected on that level ~ I share my middle name with an aunt and it is something I can't explain that we feel a different connection.

SMA is a big diagnosis to take in all at once. Give yourself time to get your balance back, but don't feel you have to have a PHD on Spinal Muscular Atrophy before you play with your niece again.

As with every condition, it's important to have the most up to date and thorough information to work from, so don't settle for a general synopsis or short clinical description because one size does definitely not fit all.

No matter what SMA means for your niece and your family, it is just a small part of who she is and what her life should be.

The first weeks can be overwhelming for everyone who loves her, so be there however you can for one another, and especially for your niece. A diagnosis doesn't change anything for her ~ I am thinking she wants the same things she wanted before you all heard the news.

She can't take a vacation from SMA ~ but it's normal for her, with no adjustments at all except her family learning the diagnosis. Since it might be hard, for a while, for everyone who loves her to take mini-vacations from thinking about it and what it means, any simple fun or low-anxiety companionship you can provide will mean as much to her as it did before she had a diagnosis: lots.

I recently added some links about SMA in an article about Muscular Dystrophy that you might find helpful.

Children with Muscular Dystrophy
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Pam thats great info, im sure it will help Gray and her family alot.

Thank you for all the links. I fully realize that right now at least this is a lot harder for those around her than for her. SHE, after all, is quite happy. She's smart, she plays, she talks like a magpie, and she's never known another way of being. I actually think it would have been harder if she had been one of those kids who can run around fine for the first few years, then loose all of that around 8 or 9. As it is, this is her life and she'll make of it what she will. She's a strong-willed kid (everyone in my family can be a bit TOO strong-willed at times, but in this case it'll be useful).

Things for me aren't as hard as for the rest of the family, since I live much further away, but it's frustrating to feel like I'm spinning my wheels in the mud. Plus, my cousin's kid who's not even four has cystic fibrosis and has been hospitalized, he's not in good condition at all. His condition is even more frustrating because his mother's family KNEW that it ran in the family, but didn't tell his mother. Lots of stress and sadness are going on right now with the kids.

We never know what is in the reasoning of others that causes them to keep information to themselves that in retrospect we would have wanted to know. Perhaps they did not realize the significance of the information, or were a little hazy on their genetics education, and thought that it could not appear again in later generations.

Sometimes wishful thinking outweighs medical knowledge; human beings work things out without logic or reason often enough and nothing unfortunate comes of it. Of course when a child is in a hospital having a difficult time, all that history means nothing; it can't be undone and might not have had any effect on events if it could have been undone.

During times of high stress, what we see as other people's shortcomings can be magnified; we might not have the energy needed to to focus on understanding and forgiving them.

Your cousin's son will be in my thoughts and prayers, as will his family. I know that research into better treatment options have improved the lives of children with CF in recent years, but we still must work for research into a cure.

There are links to information about Cystic Fibrosis at the Family Village Website:
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Thank you for the links, although I'm sad to say I think his case is so severe that there just isn't much of him left to keep going. He had 10 ft. of small intestine removed, and can no longer speak, although he does seem to understand what is being said to him.

As for my cousin's wife's family...I don't CARE if they were ashamed of it, or didn't know much about the genetics, or were just shoving their thumbs in their ears and screwing their eyes shut hoping it would go away. It was cruel of them to not tell her that it ran in the family, cruel to her husband, and cruel to that poor kid who's living in agony through no fault of his own. I sincerely hope that someone who reads this and is keeping a secret like that from their family will confess. Even if it's hard knowledge, it can avert tragedy.

How sad, im so sorry Gray;
I agree with what you say, about family should tell if there is a genetic gene in the family that can be passed on. i also hope if some one is keeping a family secret they come forward to prevent another family tragedy. like you said

Knowing that a genetic disorder runs in a family does not avert the tragedy of a child being born with the genetic disorder. Finding a cure or treatment for the disorder averts the tragedy.

The family of your cousin's wife must be suffering along with the parents as your cousin's son struggles; sympathy and forgiveness would create the atmosphere that your cousin's son deserves, and I believe those two gifts might lighten the load of anger and blame that is probably doing you no good, either.

[quote=SNC_Editor_Pam]
Information about Cystic Fibrosis
at the Family Village Website:
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"Knowing that a genetic disorder runs in a family does not avert the tragedy of a child being born with the genetic disorder. Finding a cure or treatment for the disorder averts the tragedy."

I disagree with that a bit. If they knew they may have been carriers, they could have been tested to make sure they are/are not carriers, and if they are, then they could choose not to have children. Finding a cure would be fantastic, but since that doesn't yet exist then the next best thing would be to make sure you don't bring a child in to suffer like that.

I'll definitely check that link out!