Mothering Forum banner

1 - 20 of 26 Posts

·
Registered
Joined
·
2,153 Posts
Discussion Starter · #1 ·
I’ve posted a couple of times about my son’s medical issues. Here is an update… (I have been too devastated to type this out but rec’d hopeful/potentially positive news today so here it is.)<br><br>
Last week the neuro at Mayo confirmed, based upon the genetic testing, my son’s diagnosis of Charcot, Marie, Tooth - CMT4F/ Dejerine-Sottas Syndrome (DSS). Unlike the other types of CMT, type 4 and DSS are rare and severe. The disease is progressive and the statistics are unbearable: loss of lower body usage by age 9-10, lost use of hands by age 14-15, possible respiratory failure. CMT affects everyone differently but I have been unable to find any positive stories for type 4/DSS. We have been living in hell the past week. I do not know how to deal with this.<br><br>
I have one ray of hope that I am grasping to; allowing myself to remain in a bit of denial. This morning I contacted a doctor in Michigan who specializes in CMT research. He will see Charlie in August. I was told today, there is a small chance he is just a carrier and his current symptoms may be a result of his brain bleed at birth suddenly referred to as Cerebral Palsy. (Which would be wonderful since CP is static.) We are going forward with the additional testing at Mayo this month too because I cannot wait until August. Hopefully the tests will show if his current symptoms are a result of CMT and whether he has type 4 or DSS. If they are not, he could be a carrier or his CMT symptoms may not be visible yet so we would still be unsure of his long-term prognosis.<br><br>
I’ve joined a CMT board which has been helpful although there are no members with type 4/DSS. The doctor in Michigan suggested I join a MD support group in my area – which I will do. Thanks for reading and please keep Charlie in your prayers/thoughts. (I <b>need</b> a positive outcome - him to be a carrier.)
 

·
Registered
Joined
·
1,094 Posts
Sending prayers for your family. <img alt="" class="inlineimg" src="http://www.mothering.com/discussions/images/smilies/hug.gif" style="border:0px solid;" title="hug">
 

·
Premium Member
Joined
·
9,138 Posts
<img alt="" class="inlineimg" src="http://www.mothering.com/discussions/images/smilies/hug.gif" style="border:0px solid;" title="hug"><br>
My stomach is in knots and my heart hurts just reading. I'm sending my prayers. <img alt="" class="inlineimg" src="/img/vbsmilies/smilies/hug2.gif" style="border:0px solid;" title="Hug2">
 

·
Registered
Joined
·
2,583 Posts
I'm so sorry. <img alt="" class="inlineimg" src="http://www.mothering.com/discussions/images/smilies/hug.gif" style="border:0px solid;" title="hug">
 

·
Registered
Joined
·
5,813 Posts
I can only imagine how heartwrenching and difficult this process has been for you. Your sweet son will be in my thoughts, as will you. <img alt="" class="inlineimg" src="http://www.mothering.com/discussions/images/smilies/hug.gif" style="border:0px solid;" title="hug">
 

·
Premium Member
Joined
·
12,445 Posts
<img alt="" class="inlineimg" src="http://www.mothering.com/discussions/images/smilies/hug.gif" style="border:0px solid;" title="hug">
 

·
Registered
Joined
·
235 Posts
Sounds so difficult <img alt="" class="inlineimg" src="http://www.mothering.com/discussions/images/smilies/hug.gif" style="border:0px solid;" title="hug">...I will definitely keep Charlie in my prayers and thoughts for good news in August.<br><br>
Joni and kids, incl. Gabriel <img alt="" class="inlineimg" src="/img/vbsmilies/smilies/carrot.gif" style="border:0px solid;" title="carrot">, 9, autism and Down syn., and Michaela <img alt="" class="inlineimg" src="/img/vbsmilies/smilies/wheelchair.gif" style="border:0px solid;" title="wheelchair">:, 11, syringomyelia
 

·
Registered
Joined
·
2,153 Posts
Discussion Starter · #9 ·
Thank you for your kind responses.<br><br>
He is so mobile and active now it is hard to imagine him any other way. I found myself thinking about everything, including what he should do for a living – he’s three! Who will care for him when my husband and I are gone – we’re older parents. When and how we should tell him about this when he is older. I may need to learn to deal with the issues as they arise and not try to plan out his entire life. I think it will help when I meet other parents who have been dealing with this longer. I must get out of my depressed haze and make sure we are as active as possible. If Charlie is going to have such limited mobility one day, I want him to do as much as possible when it is still possible. I could handle him loosing use of his legs; it is the hands and possible respiratory issues that frighten me so much.<br><br>
Joni, based upon your signature I’m wondering if you’ve gone through similar thought processes and worries about the future.
 

·
Registered
Joined
·
4,611 Posts
Speechless, but for the prayers and "best possible outcome" wishes for Charlie, you and your family. I'm also an older parent. It is hard to think in terms of how to construct options for the future... but we have to do it, at least somewhat, don't we?<br><br>
((hugs))
 

·
Registered
Joined
·
2,274 Posts
<img alt="" class="inlineimg" src="/img/vbsmilies/smilies/goodvibes.gif" style="border:0px solid;" title="Goodvibes">:<br><br><br><br><img alt="" class="inlineimg" src="/img/vbsmilies/smilies/praying.gif" style="border:0px solid;" title="praying">:<br><br><br><img alt="" class="inlineimg" src="http://www.mothering.com/discussions/images/smilies/hug.gif" style="border:0px solid;" title="hug">
 

·
Registered
Joined
·
100 Posts
<img alt="" class="inlineimg" src="http://www.mothering.com/discussions/images/smilies/hug.gif" style="border:0px solid;" title="hug"><br><br>
Will be keeping you and your boy in my thoughts.<br><br><img alt="" class="inlineimg" src="http://www.mothering.com/discussions/images/smilies/hug.gif" style="border:0px solid;" title="hug">
 

·
Registered
Joined
·
2,153 Posts
Discussion Starter · #14 ·
Since I originally submitted this post I’ve been feeling a little foolish. I want to say this but I’m not sure if it will come out right…<br><br>
I was given the statistics of the disease and panicked. Charlie may not be affected and if he is, the condition is so rare he may be affected less severely – not enough is known. Also, I stated I ‘needed’ him to be a carrier. I was frightened and basically mourning the life I had planned for him. I am still worried but am also determined to make a plan for the best life possible – no matter the effect of the disease. I am ashamed to have been so weak when I read of so many parents dealing with a wide range of medical issues; some much more daunting. (I read many of the special needs posts. I’ve re-read some and am inspired.)<br><br>
It’s late and I’m tired…
 

·
Registered
Joined
·
5,813 Posts
Big, big hugs to you.<br><br>
You sound like such a sweet and thoughtful mother. Don't beat yourself for feeling what you feel and saying what you think. We've all been through similar raw, low moments. It's incredibly painful.
 

·
Registered
Joined
·
2,153 Posts
Discussion Starter · #16 ·
We went to the CMT clinic in Detroit yesterday and rec’d wonderful news. The doctors and geneticists said Charlie’s pain is not a result of CMT and they do not believe he has CMT4F or Dejerine-Sotta. So after receiving incorrect/incomplete information from three neurologists and nine months of worrying, we’ve finally heard great news. I am so glad we found a clinic, I believe the only in the country, that specializes in CMT.<br><br>
Our appointment at the CMT clinic was scheduled for August. Luckily, they called back saying they could fit us in April 2nd. We cancelled our appointments for all testing scheduled last week at Mayo and although I think the neuro at Mayo w/h come up with this same conclusion she w/h run several painful tests requiring sedation. Yesterday’s tests were painless and brief and required no sedation. We were told since he had only one gene variance instead of two, no family history, normal results from the limited nerve conduction velocity test, and no peripheral neuropathy he doesn’t have CMT. We were told last month by the neuro at Mayo that many neurologists do not have a proper understanding of genetic test results – we now know that is true!<br><br>
We still do not know the reason for his pain but are planning to take a break from all neurologists, orthopedic surgeons, and physical therapists. Most likely it is a result of his Cerebral Palsy. (Even though we were told by the ortho surgeon CP doesn’t cause pain.) Every doctor we’ve seen agrees he is very tight and has spastic reflexes. Strangely, his pain has decreased the past few months. Although, I questioned this decision to stop searching for the source of his pain after he screamed for two hours last night…<br><br>
Thank you for thinking of Charlie!
 

·
Registered
Joined
·
2,274 Posts
Hooray for the good news! <img alt="" class="inlineimg" src="http://www.mothering.com/discussions/images/smilies/hug.gif" style="border:0px solid;" title="hug"><br><br>
And as if CP doesn't cause pain. D has pain that is directly caused by his spacticity and tone issues. They tried to tell me that, too.
 

·
Registered
Joined
·
2,153 Posts
Discussion Starter · #18 ·
<div style="margin:20px;margin-top:5px;">
<div class="smallfont" style="margin-bottom:2px;">Quote:</div>
<table border="0" cellpadding="6" cellspacing="0" width="99%"><tr><td class="alt2" style="border:1px inset;">
<div>Originally Posted by <strong>FancyD</strong> <a href="/community/forum/post/10931379"><img alt="View Post" class="inlineimg" src="/community/img/forum/go_quote.gif" style="border:0px solid;"></a></div>
<div style="font-style:italic;">Hooray for the good news! <img alt="" class="inlineimg" src="http://www.mothering.com/discussions/images/smilies/hug.gif" style="border:0px solid;" title="hug"><br><br>
And as if CP doesn't cause pain. D has pain that is directly caused by his spacticity and tone issues. They tried to tell me that, too.</div>
</td>
</tr></table></div>
What do you do for the pain? One of the neuros wanted me to start him on neurotin - but I didn't because his pain is intense but usually short-lived and always sporadic. I didn't want to drug him daily.
 

·
Registered
Joined
·
2,274 Posts
Tylenol, when he can't sleep. It hasn't been too bad, no screaming or anything. It seems to be cramping, mostly.
 

·
Registered
Joined
·
2,153 Posts
Discussion Starter · #20 ·
<div style="margin:20px;margin-top:5px;">
<div class="smallfont" style="margin-bottom:2px;">Quote:</div>
<table border="0" cellpadding="6" cellspacing="0" width="99%"><tr><td class="alt2" style="border:1px inset;">
<div>Originally Posted by <strong>FancyD</strong> <a href="/community/forum/post/10932087"><img alt="View Post" class="inlineimg" src="/community/img/forum/go_quote.gif" style="border:0px solid;"></a></div>
<div style="font-style:italic;">Tylenol, when he can't sleep. It hasn't been too bad, no screaming or anything. It seems to be cramping, mostly.</div>
</td>
</tr></table></div>
Thanks,<br>
Last night was the first time we gave anything for the pain - we gave Tylenol. It was my husband's idea but I didn't want to give it to him. I've used it for really high fevers but rarely plus he was refusing it. We had to pour it down his mouth while he was screaming; it was awful and not something I felt comfortable doing. But it did help. Within twenty mintues he was calm and without pain. I wasn't sure if it was the Tylenol or he was just wore out. Next time I will try it as soon as this sort of intense pain starts.
 
1 - 20 of 26 Posts
Top