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Raising Special Needs Kids Raising Special Needs Kids

Konner has a Diagnosis

Posted by on May. 5, 2014 at 12:05 AM
  • 15 Replies

 

Well it's Semi Official, but the Doctor doesn't think it's going to change in 1 month when we receive the Final Diagnosis. But it is what we have been thinking it is for the past 2.5 years. Let's just say his pediatrician thinks we need to go after the geneticist from a year ago telling us it wasn't this to begin with.  Konner has Hereditary Spastic Paraplegia SPG 4 with a rare mutation. He is the 1st child so far in the world to have this rare mutation gene and he is also the 1st in the world so far to have birth onset of this gene as well. His condition is showing that it is disease onset which means that his condition is not hereditary from either of us but he is a 1st to start it for future family if he decides to have children. His chances of it being hereditary are 25% though. Our next step is to meet with a urologist to find out if Konner has spasms in his bladder and then he needs to have continuing food therapy since they believe he has spasms in the throat area causing his overactive gag reflex and texture aversion. Once we get our final diagnosis next month we are to make a call to Dr. Fink at the Univ of Michigan to have him start monitoring Konner's condition etc since Konner is a child onset. He is a HSP medical/genetic guru. I'm so happy to finally have a diagnosis and we don't have to keep going back and forth on this HSP thing anymore. I feel so relieved and that my prayers have finally been answered. I have been waiting for this day for almost 4 years!!!

Results from his seizure 48 hr exam from December has us and his pediatrician extremely confused because Konner showed a lot of spike activity etc but they are saying it is not seizure related what so ever. Which is very confusing to us since he shows that sort of activity. His pediatrician was going to call his seizure Neuro to have a consult to go over the results since they do not make since unless they are some sort of spell.

Since Konner's condition has been getting worse over the past couple of months tomorrow morning he will be trading in his manual wheelchair for a power chair. He no longer has the core strength to push his manual chair anymore, runs out of energy, and keeps falling out of it even with his seat belt on. He is no longer using the canes since he has lost core strength and balance.

This is our update on Konner for the past couple of months enjoy the excitement with me and THANK YOU for all your support with me through this long journey that I have been on for about 4 years now.

 

 

by on May. 5, 2014 at 12:05 AM
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Replies (1-10):
Robin-Christine
by Member on May. 5, 2014 at 12:08 AM

Great that you have the answers you have been searching for,do you live near UM?

andersonmommy2
by Member on May. 5, 2014 at 12:10 AM

UM?

Quoting Robin-Christine:

Great that you have the answers you have been searching for,do you live near UM?


Robin-Christine
by Member on May. 5, 2014 at 12:14 AM

University of Mi

Quoting andersonmommy2:

UM?

Quoting Robin-Christine:

Great that you have the answers you have been searching for,do you live near UM?


andersonmommy2
by Member on May. 5, 2014 at 12:20 AM

No we are actually in UT but he is the big HSP dr in the U.S. he has discovered 19 of the 30 or so genes and is studying HSP especially in children since it is really rare for children to have it. We had an apt last OCT but cancelled it because we didn't have a diagnosis yet. It takes a min of 6 mo to get into see him. 

Quoting Robin-Christine:

University of Mi

Quoting andersonmommy2:

UM?

Quoting Robin-Christine:

Great that you have the answers you have been searching for,do you live near UM?


Robin-Christine
by Member on May. 5, 2014 at 12:26 AM

When you do get  the appointment look into Angel flights,another mom in this group used them, I never have, they help fly kids and their families out of state  for  treatment. I do not know if child need to be in patient or  any details. There is a Ronald McDonald house acrosss the street from the hospital. I am in Ohio, Um is where my son had his open heart surgery. We are only 45 minutes driving time so if you drive and need a friend let me know. I do not drive however you could stay with my family if need be

jjamom
by Michele on May. 5, 2014 at 6:11 AM
I'm so glad you are finally getting the answers you need.

I love the pictures! TFS. :)
arkansasmama08
by Gold Member on May. 5, 2014 at 7:19 AM
Wow! I'm glad you have answers. Its a relief sometimes when it takes so long isn't it? I hate to ask, but do they think his condition is going to keep getting worse?
mandee1503
by Amanda on May. 5, 2014 at 8:35 AM
Glad you aRe getting some answers.
andersonmommy2
by Member on May. 6, 2014 at 9:12 PM

Quoting Robin-Christine:

When you do get  the appointment look into Angel flights,another mom in this group used them, I never have, they help fly kids and their families out of state  for  treatment. I do not know if child need to be in patient or  any details. There is a Ronald McDonald house acrosss the street from the hospital. I am in Ohio, Um is where my son had his open heart surgery. We are only 45 minutes driving time so if you drive and need a friend let me know. I do not drive however you could stay with my family if need be

We have looked into the Angel flights and they don't do them here in UT so I will have to do some more digging on it to see what they do offer here for assistance that way. 

andersonmommy2
by Member on May. 6, 2014 at 9:14 PM

They do believe it's going to continue to get worse. In just 2 years his hands have tremors and bad shakes and this year his core muscles in his abdomen have gotten weak. So today after 3 people telling us it is time we got him ordered into a power wheelchair since he can no longer really push himself in a maual and keeps falling out. 

Quoting arkansasmama08: Wow! I'm glad you have answers. Its a relief sometimes when it takes so long isn't it? I hate to ask, but do they think his condition is going to keep getting worse?


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