Very Sad
My great niece, maybe all of 17 months old. Hurler's Syndrome. We knew all along the treatment-the only treatment-was risky. She's been yoyoing between getting better and getting worse. She's back on the ventilator, and the surgeons are giving her 48 hours for a miracle. Then...they take her off the ventilator.
Rare, autosomal disorder. Affects one in 100,000, and both parents have to be carriers. Treatment-chemo to destroy her immune/blood system, and a transplant of stem cells from unrealated but matching umbilical cord blood. If all went well, and her blood count was where it should be, that would have meant 50 days in isolation at hospital, then about the same time at home, Isolated, daily checkups, but in an apartment near the hospital. Then, eventually, home. Damage already done would still be there, but the disease would have been stopped in its tracks.
Hurlers. I went to the web site, read the medical manuals at work when I first found out, and wept. Also called gargolyism. Features become broad, flat, distorted. Dwarfism sets in, rib cage becomes splayed. Deafness, due to nerve damage. Blindness, due to corneal scarring. Mental retardation. Unable to communicate, because of deafness, retardation, ect. Severve joint pain, similar to carpal tunnel syndrome. Organs/lungs fail, and death, at the age of 8 or 10 at the most.
There was a good chance the risky treatment would work. It was the only option. She is a happy, wonderful child. So far-slight hearing loss, fitted with hearing aids. Very mild corneal scarring. Features-all you can say is, something's not quite right. But that smile makes her beautiful. Always knew something was wrong, fluid would build up, liver enlarged. But it took the doctors a long time to diagnose her. It's just so rare.
Blood counts would improve, then drop. Fluid would build up, they'd have to put her on steriods, blood count would drop. Get better.Get worse. Repeat. Was on a ventilator, then weaned off it. Can't seem to get quite enough oxegyn. Now-she's back on the ventilator. Fluid is building up over her whole body, not just lungs. Kidneys are failing. And the surgeons can't put her through any more surgeries. 48 hours. If a miracle happens, they'll do a traecheotemy. No miracle-tuesday they make the decision to take her off the ventilator.
My brother's not talking to anyone. He can't face going back down there. He'll remember the happy grandchild. My niece isn't alone-her mom and stepdad, others, are there. I can't blame him, he's heartbroken. And god help us, the unspoken thing in the back of our minds-better that she dies, rather than live a life of unrelenting suffering. But, god, a cure was within reach! She'd done so well. To quote a bit from Bridge of Birds, roughly-"finding out painfully, there's no such thing as an almost miracle."
Telling my 12 year old the end might be near, holding her while she wept-
Remembering Mike 2 years ago, on the ventilator after he went into congestive heart failure after the stroke. He pulled through. But...worse time of my life.
My poor niece, brother, daughter.
Pray for us, friends.
And I will still be online, on my various forums. It's my distraction, when I can't let myself think on this anymore. When I can't sleep, and need to distract myself. I'll share with a few dear friends at work tomorrow. And thank god I have my other half, my best friend.
Typing it out like this helps somewhat.
I'll cry later.
Rare, autosomal disorder. Affects one in 100,000, and both parents have to be carriers. Treatment-chemo to destroy her immune/blood system, and a transplant of stem cells from unrealated but matching umbilical cord blood. If all went well, and her blood count was where it should be, that would have meant 50 days in isolation at hospital, then about the same time at home, Isolated, daily checkups, but in an apartment near the hospital. Then, eventually, home. Damage already done would still be there, but the disease would have been stopped in its tracks.
Hurlers. I went to the web site, read the medical manuals at work when I first found out, and wept. Also called gargolyism. Features become broad, flat, distorted. Dwarfism sets in, rib cage becomes splayed. Deafness, due to nerve damage. Blindness, due to corneal scarring. Mental retardation. Unable to communicate, because of deafness, retardation, ect. Severve joint pain, similar to carpal tunnel syndrome. Organs/lungs fail, and death, at the age of 8 or 10 at the most.
There was a good chance the risky treatment would work. It was the only option. She is a happy, wonderful child. So far-slight hearing loss, fitted with hearing aids. Very mild corneal scarring. Features-all you can say is, something's not quite right. But that smile makes her beautiful. Always knew something was wrong, fluid would build up, liver enlarged. But it took the doctors a long time to diagnose her. It's just so rare.
Blood counts would improve, then drop. Fluid would build up, they'd have to put her on steriods, blood count would drop. Get better.Get worse. Repeat. Was on a ventilator, then weaned off it. Can't seem to get quite enough oxegyn. Now-she's back on the ventilator. Fluid is building up over her whole body, not just lungs. Kidneys are failing. And the surgeons can't put her through any more surgeries. 48 hours. If a miracle happens, they'll do a traecheotemy. No miracle-tuesday they make the decision to take her off the ventilator.
My brother's not talking to anyone. He can't face going back down there. He'll remember the happy grandchild. My niece isn't alone-her mom and stepdad, others, are there. I can't blame him, he's heartbroken. And god help us, the unspoken thing in the back of our minds-better that she dies, rather than live a life of unrelenting suffering. But, god, a cure was within reach! She'd done so well. To quote a bit from Bridge of Birds, roughly-"finding out painfully, there's no such thing as an almost miracle."
Telling my 12 year old the end might be near, holding her while she wept-
Remembering Mike 2 years ago, on the ventilator after he went into congestive heart failure after the stroke. He pulled through. But...worse time of my life.
My poor niece, brother, daughter.
Pray for us, friends.
And I will still be online, on my various forums. It's my distraction, when I can't let myself think on this anymore. When I can't sleep, and need to distract myself. I'll share with a few dear friends at work tomorrow. And thank god I have my other half, my best friend.
Typing it out like this helps somewhat.
I'll cry later.