Im an so sorry it has taken me soooo long to update!!!! Well I guess alot is new, I have months of updates to do.
Well Miss Jordyn is right now as we speak laying in a hospital bed. For those of you I dont talk to on a regular basis heres the scoop. Miss Peanut has been seizuring ALOT and throwing up at night after them. Yea its a load of fun. Im sure its not fun for her either but waking up to someone puking isnt fun!!! Thats been going on for a few months now. I have called Dr. Collins (very good doc @ Akron Childrens) her GI Doc. he had scheduled her for, actually today for an appt for a check up but she is at the clinic so... they are scheduling months ahead which sucks. So now i had to reschedule and it wont be till sometime in Dec. YIKES!!!! Anyways she is at The Cleveland Clinic in the Epilepsy Monitoring Unit. We are here for 3-5 days, video and EEG monitored. Got here yesterday her dad stayed with her last night I guess she showed them how it is and had lots of seizures so he didnt sleep any. I got here this a.m. and he went home. (its his BDAY 2day!) Today has been both bad and good... quite a few seizures although thats why we are here. Now for last couple hours been wonderful!!!! We even went for a walk and she talked the whole way. Been wiggly and cute this afternoon and evening! Prob go for another walk later only supposed to be unhooked for 15 min or so at a time.
Dr Gupta came in a little bit ago. Jordie IS NOT a able to have surgery. The cysts on her brain are not causing seizures the seizures are actually coming from the other side. 2 more meds we can maybe try we will talk about that tomorrow. Also talked to Dietitian today about the KETOGENIC DIET. I think that is the next thing we will do. Did blood work today to send to New York for dr to look at for the Folinic Acid. Also did blood work for med levels. Hoping to go home tomorrow. Since she has been so good and giving them the seizures that they need to see and showing them how we have been at home i think we will get out here before 5 days.
A little about whats been going on with Jordie at home..... SHE IS SPOILED ROTTEN!!!!! Jordie gets a lot of attention from her nurse. Miss Tammy is wonderful with Jordie!!!! And Jordie responds great to her! They are together 8am-4pm mon- fri. she works with the peanut and she goes to therapys with her and she gives her bath which she totally loves especially getting her hair combed that just makes her day!!!!!!! NOT! Tammy gets Jordyn to eat more then anyone else can. which is great! Jordyn just got the Ohio Home Health Waiver so she will now get 16 hrs, 7 days a week nursing!!!! WOW! then they will put a ramp on the house and a lift for the tub and a NEW CAR SEAT!!! WOW! Christmas in October. LOL
Well Im going to go take Miss Jordie for a walk to the big fish tank on this floor they wont let us escape!!! LOL
Well I will try to start updating more often.
Tuesday, October 14, 2008
Wednesday, April 2, 2008
For those who dont know Jordyn...
Hello for those of you who dont know Jordyn I will give you an update on her.... She was born March 30, 2004. It was a normal pregnancy a normal delivery. she was due March 31st. So thought everything was good. Came home from hospital and still everything seemed ok. Every once in a while Jordyn would let out these awful screams at night but didnt really think to much about it. @ about a month old we noticed Jordyn bringing her arms up by her face and her hands just twitching still didnt think much bout it thought maybe for some reason her nervous system a little slow. Then started watching and timing and counting how many times this happened. Call our family Dr. took her in and she wanted to get an EEG @ Akron Childrens that was on a Fri. Got her an appt for the next Monday morning. Well we had more of these "spells" all weekend still writing them down still timing them. On Sat we were at a party for a cousin of mine from Colorado and still had more and more "spells". about 15-20 all day. Then on Sunday morning within an hour she did this 4 times. Something wasnt right. I called a friend on Fire Dept. her and I took Jordyn to Akron Childrens ER. My other 2 children went to my friends and her husband watched them while she went with me. Once at the ER I explained that we had an appt in the morning for an EEG. We sat in the room and just waiting for her to have a "spell". Then finally she did and my friend got a nurse and she took one look at little Jordyn and said shes having SEIZURES!!! They started her right then on Phenobarbital. Then seizures stopped. I called my husband and he came to ER and my friend went home. They admitted Jordyn to PICU (pediatric ICU) Told us we couldnt do much no bed side sleep so we could go home. So we left and got other 2 kids and the next day I went to hospital first thing in A.M. She had been good all night no seizures vitals good. they would move her to her own room. My husband and kids came up and Jordyn was still good. We stayed at hospital for bout 5 days then came home still no seizures!
We were home about 2 days and she was in baby swing and started this awful screaming I ran over to her and she was having a seizure then a couple more after that. So back to ER we go they looked at her gave her a larger dose of phenabarb and still having them. MRI, EEG, blood work and a week later still seizures and still no answers why alls we knew was she was still having them. came home and still having a few still writing them down and timing them. Then we started switching drugs and changing drugs and tring new things( diff milk, chiropractor, massages) still nothing helped.
Figured we may try a new hospital so we went and had our Akron Childrens doc call Rainbow Babies and got admitted there for a 4 day EEG and video monitored and tons blood work and MRI, and EEG and Spinal Tap. Still everything came back normal EEG shows the brain is smaller then should be and seizure activity. So went home knowing no more then we went in knowing. So went back to Akron and worked with Dr on many meds none that helped to control them.
also had Jordyns eyes checked at Akron there was just something "not right" she wasnt following anything wasnt noticing anything . She was diagnosed with CVI- cortical visual Impairment. Jordyn started going to Cleveland Sight Ctr until she turned 3 and they gave a lot of advise and helped give advise to the Achievement Ctr on how and what to do with Jordyn visually.
After about a yr of that we went to another hospital The Cleveland Clinic. Got a name of a good Dr there from a friend. Went and seen him. Took lots of time and talked to us. wanted to do a 3 day EEG so we did that. along with MRI, Hearing test, blood work and bunches of other things. They had a goal and a plan if a med wasnt working take her off. try something else. Akron was lets wait and see. So very happy at the Clinic.
We still didnt have good seizure control but we found some stuff that helped and lessened them or made them not as intense for her.
Then we had a neurologist suggest we meet a metabolic specialist in his office. so we did that. The Dr suggested that we try a feed tube. Since Miss Jordie hasnt gained any weight. I knew we should but wasnt ready for that just yet. by now jordyn was almost 3 and i just want the seizures under control wasnt ready to work on anything else yet. We had Jordyn at The achievement ctr and doing therapy and her hands were always blue and she didnt move much she was a 3 yr old new born. So finally in Sept of 2007 jordyn was 3 1/2 and I finally said ok to talk about the feed tube. We met a great Dr in Akron Childrens and we had the feeding tube put in Sept 27th Jordyn who weighed 20 pound from 18 months old till the day of feeding tube gained 6 pounds in 10 weeks and doesnt have blue hands and more is awake ALOT more then before and now trys to move and is vocal! Went back Dec 10th and had a smalled Mickey Button put in and is doing great. Eats for 10 hrs every night and is a different little girl. Doesnt eat alot during day but she is still gaining weight.
Then the specialist at the Clinic wanted to run some more test to find something to help us with the seizures. We ok'ed him to do what he could treat if the tests were just for an answer we didnt want it. If the result could be treated go ahead. So he did lots of blood work. everything came back normal! I have always said SHE IS THE MOST NORMAL ABNORMAL KID I KNOW!!!! Then there was one more test to see if we could treat whatever was wrong. Last test was a Spinal Tap. I said no she has had them before when she has been in hospital for pneumonia. then he asked again I said fine when her Dr wants another MRI and stuff we can he called and scheduled it then. So we went Jan. 31st took her to Clinic and she had urine, bloodwork, MRI, and spinal tap done.
Then on Feb 19th the Dr. called some results are back she needs folinic acid. hers was way low. Ok thats easy enough. Thats about all he said. just her acid level in brain was low and put her on folinic acid. I told him thank you for not telling me everything was normal. He laughed said we will talk over phone but go get blood work done b4 I start the acid. so we went that day to Wooster Cleveland Clinic lab had blood drawn. Drug store ordered the med in was in on 2-20-08 we started it 2-21-08 one pill aday. THEN march 5th the Dr called again another test came back FINALLY A NAME FOR THIS DISEASE!!!!!!! CEREBRAL FOLATE DEFICIENCY..... Her bodys antibodies are attacking the folinic acid in her brain. you need folinic acid for your brain to tell your muscles to move and your eyes to see. so he wanted her to get 2 pills aday and go totally off and dairy products. and the Dr in New York that found and diagnosed this disease about 3 yrs ago wants to test Jordyns blood. Hes not seen levels like hers before. Very rare and only 100 diagnosed cases in the world! WOW FINALLY!!!!!
since all this we have noticed she is starting to track things moving in front of her. she is moving and vocalizing alot more! Her dad and I are so excited to finally have a name and can be treated and maybe get some things back like maybe some vision and some movements. How exciting! So that is some of what all has gone on with Jordyn a little bit of her history.
Hope you all have a good day.
We were home about 2 days and she was in baby swing and started this awful screaming I ran over to her and she was having a seizure then a couple more after that. So back to ER we go they looked at her gave her a larger dose of phenabarb and still having them. MRI, EEG, blood work and a week later still seizures and still no answers why alls we knew was she was still having them. came home and still having a few still writing them down and timing them. Then we started switching drugs and changing drugs and tring new things( diff milk, chiropractor, massages) still nothing helped.
Figured we may try a new hospital so we went and had our Akron Childrens doc call Rainbow Babies and got admitted there for a 4 day EEG and video monitored and tons blood work and MRI, and EEG and Spinal Tap. Still everything came back normal EEG shows the brain is smaller then should be and seizure activity. So went home knowing no more then we went in knowing. So went back to Akron and worked with Dr on many meds none that helped to control them.
also had Jordyns eyes checked at Akron there was just something "not right" she wasnt following anything wasnt noticing anything . She was diagnosed with CVI- cortical visual Impairment. Jordyn started going to Cleveland Sight Ctr until she turned 3 and they gave a lot of advise and helped give advise to the Achievement Ctr on how and what to do with Jordyn visually.
After about a yr of that we went to another hospital The Cleveland Clinic. Got a name of a good Dr there from a friend. Went and seen him. Took lots of time and talked to us. wanted to do a 3 day EEG so we did that. along with MRI, Hearing test, blood work and bunches of other things. They had a goal and a plan if a med wasnt working take her off. try something else. Akron was lets wait and see. So very happy at the Clinic.
We still didnt have good seizure control but we found some stuff that helped and lessened them or made them not as intense for her.
Then we had a neurologist suggest we meet a metabolic specialist in his office. so we did that. The Dr suggested that we try a feed tube. Since Miss Jordie hasnt gained any weight. I knew we should but wasnt ready for that just yet. by now jordyn was almost 3 and i just want the seizures under control wasnt ready to work on anything else yet. We had Jordyn at The achievement ctr and doing therapy and her hands were always blue and she didnt move much she was a 3 yr old new born. So finally in Sept of 2007 jordyn was 3 1/2 and I finally said ok to talk about the feed tube. We met a great Dr in Akron Childrens and we had the feeding tube put in Sept 27th Jordyn who weighed 20 pound from 18 months old till the day of feeding tube gained 6 pounds in 10 weeks and doesnt have blue hands and more is awake ALOT more then before and now trys to move and is vocal! Went back Dec 10th and had a smalled Mickey Button put in and is doing great. Eats for 10 hrs every night and is a different little girl. Doesnt eat alot during day but she is still gaining weight.
Then the specialist at the Clinic wanted to run some more test to find something to help us with the seizures. We ok'ed him to do what he could treat if the tests were just for an answer we didnt want it. If the result could be treated go ahead. So he did lots of blood work. everything came back normal! I have always said SHE IS THE MOST NORMAL ABNORMAL KID I KNOW!!!! Then there was one more test to see if we could treat whatever was wrong. Last test was a Spinal Tap. I said no she has had them before when she has been in hospital for pneumonia. then he asked again I said fine when her Dr wants another MRI and stuff we can he called and scheduled it then. So we went Jan. 31st took her to Clinic and she had urine, bloodwork, MRI, and spinal tap done.
Then on Feb 19th the Dr. called some results are back she needs folinic acid. hers was way low. Ok thats easy enough. Thats about all he said. just her acid level in brain was low and put her on folinic acid. I told him thank you for not telling me everything was normal. He laughed said we will talk over phone but go get blood work done b4 I start the acid. so we went that day to Wooster Cleveland Clinic lab had blood drawn. Drug store ordered the med in was in on 2-20-08 we started it 2-21-08 one pill aday. THEN march 5th the Dr called again another test came back FINALLY A NAME FOR THIS DISEASE!!!!!!! CEREBRAL FOLATE DEFICIENCY..... Her bodys antibodies are attacking the folinic acid in her brain. you need folinic acid for your brain to tell your muscles to move and your eyes to see. so he wanted her to get 2 pills aday and go totally off and dairy products. and the Dr in New York that found and diagnosed this disease about 3 yrs ago wants to test Jordyns blood. Hes not seen levels like hers before. Very rare and only 100 diagnosed cases in the world! WOW FINALLY!!!!!
since all this we have noticed she is starting to track things moving in front of her. she is moving and vocalizing alot more! Her dad and I are so excited to finally have a name and can be treated and maybe get some things back like maybe some vision and some movements. How exciting! So that is some of what all has gone on with Jordyn a little bit of her history.
Hope you all have a good day.
Tuesday, April 1, 2008
I AM "4"
Hello I am now an official BIG GIRL!!!!! I am "4". I turned 4 on Sunday March 30. My cousin Josh turned 5 on March 31st so my aunt had a birthday party for both of us with my grandparents there and my great grandma. I got clothes and a few toys, money & we got to have cake and they had ice ream I got Italian Ice, since I am not aloud to have milk anymore! Then not sure what happened if its what I ate or what but I started having Seizures Monday morning. I only had a few then at school had another one. But I am OK and they didn't bother me to much like they used to.
It had been a week since mommy said she or daddy had heard me have any. But that is still better then I had been.
Today I had to leave school early I had water therapy which I did pretty good for. mommy was wondering how I would do since she was told I slept all day at school. Then came home and laid around listening to TV and my brother and sister talking to me. My mom started a fire which I like to sit and look at.
Pretty easy week I go to school 2 more days then Physical Therapy @ Lodi Hospital on Friday. Then off to a fun weekend @ my dads...(who spoils me rotten!!!!!) Well that's just a quick update on my week.
It had been a week since mommy said she or daddy had heard me have any. But that is still better then I had been.
Today I had to leave school early I had water therapy which I did pretty good for. mommy was wondering how I would do since she was told I slept all day at school. Then came home and laid around listening to TV and my brother and sister talking to me. My mom started a fire which I like to sit and look at.
Pretty easy week I go to school 2 more days then Physical Therapy @ Lodi Hospital on Friday. Then off to a fun weekend @ my dads...(who spoils me rotten!!!!!) Well that's just a quick update on my week.
Thursday, March 27, 2008
To help you understand my syndrome.....
University Hospital Aachen, Germany. vramaekers@skynet.be
Cerebral folate deficiency (CFD) can be defined as any neurological syndrome associated with low cerebrospinal fluid (CSF) 5-methyltetrahydrofolate (5MTHF), the active folate metabolite, in the presence of normal folate metabolism outside the nervous system. CFD could result from either disturbed folate transport or from increased folate turnover within the central nervous system (CNS).
We report on a novel neurometabolic syndrome in 20 children, which we term 'idiopathic CFD'. Typical features became manifest from the age of 4 months, starting with marked unrest, irritability, and sleep disturbances followed by psychomotor retardation, cerebellar ataxia, spastic paraplegia, and dyskinesia; epilepsy developed in about one third of the children. Most children showed deceleration ofhead growth from the age of 4 to 6 months. Visual disturbances began to develop around the age of 3 years and progressive sensorineural hearing loss started from the age of 6 years. Neuroimaging showed atrophy of frontotemporal regions and periventricular demyelination in seven children, slowly progressive supra- and infratentorial atrophy in three children, and normal findings in the remainder. Because active folate transport to the CNS occurs through receptor-mediated folate receptor protein 1 (FR1) endocytosis, DNA sequencing of the FR1 gene was performed and found to be normal. However, CSF protein analysis revealed a non-functional FR1 protein, suspected to result from either post-translational defects of FR1 protein N-glycosylation, the presence of folate antagonists with irreversible binding, or autoantibodies blocking the folate binding site of FR1. Oral treatment with 5-formyltetrahydrofolate (folinic acid) should be started in low doses at 0.5-1mg/kg/day, but in some patients higher daily doses of folinic acid at 2-3 mg/kg/day are required to normalize CSF 5MTHF values. This proposed treatment protocol resulted in a favourable clinical response in patients identified before the age of six years while partial recovery with poorer outcome was found beyond the age of 6 years.
Careful clinical and EEG monitoring should be performed 1, 3, and 6 months after the beginning of treatment. After four to six months of folinic acid treatment, CSF analysis should be repeated in order to prevent over- or under-dosage of folinic acid. Secondary forms of CFD have been recognized during chronic use of antifolate and anticonvulsant drugs and in various known conditions such as Rett syndrome, Aicardi-Goutières syndrome, 3-phosphoglycerate dehydrogenase deficiency, dihydropteridine reductase deficiency, aromatic amino acid decarboxylase deficiency, and Kearns-Sayre syndrome. The pathogenic link between these underlying specific disease entities and the observed secondary CFD has not been resolved.
PMID: 15581159 [PubMed - indexed for MEDLINE]
Cerebral folate deficiency (CFD) can be defined as any neurological syndrome associated with low cerebrospinal fluid (CSF) 5-methyltetrahydrofolate (5MTHF), the active folate metabolite, in the presence of normal folate metabolism outside the nervous system. CFD could result from either disturbed folate transport or from increased folate turnover within the central nervous system (CNS).
We report on a novel neurometabolic syndrome in 20 children, which we term 'idiopathic CFD'. Typical features became manifest from the age of 4 months, starting with marked unrest, irritability, and sleep disturbances followed by psychomotor retardation, cerebellar ataxia, spastic paraplegia, and dyskinesia; epilepsy developed in about one third of the children. Most children showed deceleration ofhead growth from the age of 4 to 6 months. Visual disturbances began to develop around the age of 3 years and progressive sensorineural hearing loss started from the age of 6 years. Neuroimaging showed atrophy of frontotemporal regions and periventricular demyelination in seven children, slowly progressive supra- and infratentorial atrophy in three children, and normal findings in the remainder. Because active folate transport to the CNS occurs through receptor-mediated folate receptor protein 1 (FR1) endocytosis, DNA sequencing of the FR1 gene was performed and found to be normal. However, CSF protein analysis revealed a non-functional FR1 protein, suspected to result from either post-translational defects of FR1 protein N-glycosylation, the presence of folate antagonists with irreversible binding, or autoantibodies blocking the folate binding site of FR1. Oral treatment with 5-formyltetrahydrofolate (folinic acid) should be started in low doses at 0.5-1mg/kg/day, but in some patients higher daily doses of folinic acid at 2-3 mg/kg/day are required to normalize CSF 5MTHF values. This proposed treatment protocol resulted in a favourable clinical response in patients identified before the age of six years while partial recovery with poorer outcome was found beyond the age of 6 years.
Careful clinical and EEG monitoring should be performed 1, 3, and 6 months after the beginning of treatment. After four to six months of folinic acid treatment, CSF analysis should be repeated in order to prevent over- or under-dosage of folinic acid. Secondary forms of CFD have been recognized during chronic use of antifolate and anticonvulsant drugs and in various known conditions such as Rett syndrome, Aicardi-Goutières syndrome, 3-phosphoglycerate dehydrogenase deficiency, dihydropteridine reductase deficiency, aromatic amino acid decarboxylase deficiency, and Kearns-Sayre syndrome. The pathogenic link between these underlying specific disease entities and the observed secondary CFD has not been resolved.
PMID: 15581159 [PubMed - indexed for MEDLINE]
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