We are home ...gone 8 days to Houston

[lilysmom1012]

Dear Mamas,

I need your help from everywhere.No matter where you live, what state,or what walk of life you are from.

For Lily I need your help.......desperatly.

Lets start with why thhen I will tell you all about what she had done.

Lily is suspected of having something very very rare called GTP Cyclohydrolase Defiencey.Aka Segawa"s disease.

I have researched this and there is nothing I have found about children.I have found a message board with only 2 people who have this I am trying to find out how to contact these people.To see when and how and what they got dx.

Ok now on to Lily and what she had done.

We started with a new Gastro doc.I was NOT impressed at all.e wanted to just send us ome with magnesium citrate.....I was like UM NO!! I have that on my counter it doesnt help and here is a list of all the meds {laxatives} Lily lives on and it does nothing?!!!!!!!!!!!!!! Try something else!! So I more less had to suggest the gastro clean out.She had a KUB which showed her to be impacted....DUH She ad been backed up hmmmm lets see all her life !!!!! Thats why she was on laxatives you moron.

Well,then he admitted for the NG tube clean out.She had 2 gallons of fluid pumped directly into er intestines and prior to that we had to hold our prescious baby down while they inserted a tube down her nose that we later learned was too big.Had I known I would have said.......Use the smaller one !!!

Anyway,after sticking her numerous times for the i.v. they finally got it.

Then what they said would take only 15 minutes to hit took 12 hours!!!!!!!Yea ok now are you people getting it her GUT doesnt work right???

Well then prior to admit she saw cardio, and was sent home on a 30 day heart monitor,and then we saw immuno she is now on asthma meds,daily,then we saw nephrology we will go back in 2 weeks to discuss results and have a sleep study done on 23 to see if she has apnea in which they would inform us about a cpap macine???What ?

Then we saw dermatology while she was in the hoisptal this was the BEST news of all.

They wanted Lilys wole story before ever looking at her case.They examined her head to toe and took pics of her hair and her face and her hands.And said with our permissin they were going to use Lily as a presentation at a symposium with some of the worlds top dermatologits and doctors!!And our Lily is going to be ppresented to them!!!

I am so exited to view the symposium meeting and see what the people had to say about her.

The also noticed something about Lily we never had ..she has a deep dimpling in each hand on her left knuckles.

Maybe it means something??

Anyway then Lily had a spinal tap and 10 vials of blood taken and a catheter.What shoudl have taken a little over 20 minutes took 2 anbd half hours!!! No one came to tell us anything!!!!!!!!!!!!

We were so upset.We first were told she would go back at 8 a.m. she ad nothing to eat or drink all day and they did not come get her until after 3!!!!!Then we did not get to see her tiil 6 and we did she looked awful.They had her under a warmer as she was so cold and her blood pressure was low and then her pulse kept going brady.

Then I noticed her toungue was spasming like she was post ictal.Well the neuro came up and said it was that she was having dystonic jerks and that it was common in what she is being tested for......So I was thinking well that makes mne feel great she is having yet another symptom of what she is being tested for????/

Ok so anyway Mamas.......Lily has either Mito and we dont know which one yet or she has this Segawa"sDisease.Please anyone send me as much info as you can and any stories of families who have it .

Blessings,

Amy

[MOMMYTO5CUTIES]

Mar. 5, 2009 at 12:14 PM

Wow lily has been through so much ,I hope that all this will pay off and you will get a diagnosis and a plan for treatment ,Hugs and prayers .

[tina1214]

Mar. 5, 2009 at 12:16 PM

Amy-

I sent a link to this story to all of my friends.  Hopefully they will send it onto their friends and maybe we can help you find some answers.  Wish I knew more, but I don't.  Sorry

Tina

[mama4Christ361]

Mar. 5, 2009 at 4:31 PM

http://books.google.com/books?id=dmex3HgsTUkC&pg=PA353&lpg=PA353&dq=Segawa's+disease&source=bl&ots=AbkSiSymod&sig=vm80cTRvvvZUT8LyV7HqFfcvw_g&hl=en&ei=9UGwSa2iJIS2nQeWj4XtBQ&sa=X&oi=book_result&resnum=7&ct=result#PPA354,M1

I got this off of google, good resource, let me know if I can help in any way.

God bless.

M4

[mama4Christ361]

Mar. 5, 2009 at 4:32 PM

http://emedicine.medscape.com/article/1181084-overview

seems that Segawa's is a subset of the disease Dystonia.

[TamaraAnn888]

Mar. 17, 2009 at 5:43 PM

I just found out my daughter has Dystonia yesterday which is pretty much the samething I guess.Have any info could you please pass it onto me thanks.