Princess Jordyn

revised neuro appt- blood work is in

2011-04-08T23:11:00.000-07:00

Well I now need to revise Jordies blog d/t the dr office calling and letting me know that the blood work we did yesterday didnt come back good like normal, for some reason her platelet count is way down and her Depakote and Zonegran levels are very high. more then normal. so now we have repeat blood work in 4 weeks to check again before deciding on what to do.

Neurological appt

2011-04-08T12:00:00.000-07:00

Well we went to see Dr Gupta this week and nothing new..... She gained 3 lbs which was good in two weeks. No new meds to help with seizure control. Nothing new to try or to do. Had blood work done to read levels and so we will see what they will come back with, usually isnt bad so no worries. The only new thing Dr Gupta is letting us do is...... we are now aloud to give ativan and klonopin within 24 hrs from each other. They used to tell us under no circumstance are we to give both in a 24 hr period. but now we are aloud. Other then that nothing new come back in 6 months. Jordyn has lost both front teeth and looks goofy but very cute. well very short update today but nothing new to say.

Dr .Parikh visit (metobolic specialist)

2011-03-24T07:00:00.000-07:00

Well on Tues. March 22 we went to Cleveland Clinic to see Dr. Parikh, he hasnt seen Jordyn since he diagnosed her 4 years ago. He has had consults with Dr. Gupta but hasnt actually seen Jordie since then. Well No good news or no new news. He wants to run some tests nothing that will change anything with how she is treated or anything and it is only blood work for now so I said ok. He wants a X-Ray to see if there is any small fractures or breaks in bones, just due to her not moving or weight bearing or anything. He wants some DNA bloodtests done to see where at in the DNA is her disease located. He talked about wanting another Spinal Tap done but that I said only if/ when Dr. Gupta wants MRI and other stuff done. If they are going to put her to sleep I want them to do everything at once not having to make her sleep more then she needs to for testing. So he will talk to Dr. Gupta on that one. Then we went to the Lab- they couldnt get any blood!!!!! 1st time EVER they they couldnt get a vein. kindof makes ya wonder a little bit!! They tried twice and I quit and said she will be back in 2 weeks to see Gupta we will do it then. Although I think I will probable just go to Wooster Satillite they get it 1st time everytime! When we go back on the 6th of April we will do x-rays then also. Her appt tues was so late in the day and the one with Gupta is at 9am so I just figure we will do things then.
We also have lost 5 lbs. which didnt seem to concern him so we will see what Dr. Gupta has to say on that one. I know Parikh wants her to get hand braces and go back to eye dr. and to GI dr so I have a list of things to do to keep us busy!!!!! and go back to see him in a couple yrs.
Other then that no new treatments to try for the disease nothing else to try or do. So I am hopeing that Gupta has new treatments or something for the seizures. just hate feeling like we arent tring everything that we can to help stop, control them or anything.
Other then that since Jan. we have had some really BAD days with seizures and we have had some very happy and wiggily days so nothing has changed there!
The Princess has a birthday coming up next week!!!!!!! SHE WILL BE 7!!!!! WOW where has the last 7 years gone?? She is a big girl.
Well that is all for now and I will update after appt with Dr Gupta in a couple weeks.....

JORDYN'S PERSONAL ANGEL

2011-01-13T12:26:00.000-08:00

Well on 1-11-11 @ 1 am, we had a very special man die, due to a car accident. He wore Jordyns blue bracelet everyday and he always was praying for her and making sure I was too. He would tell me everyday to sit and imagine her healed and believe it can happen. He was a wonderful man. I believe that God must of needed a wonderful man up in heaven to help be Jordyn's GUARDIAN ANGEL!! He left behind 3 children, many friends and family. He totally had all the faith in the world that Jordyn will be healed. You will be missed NATHAN!!!!! We love you so much and it all ended way to soon. Had a lot of things planned in your life and it was all cut short. Thank you for watching over Princess Jordyn, I know you will do your best, you believed so strongly in her being healed. I truely believe you are her GUARDIAN ANGEL! although we would rather have you here on earth with us. RIP Nathan. I love you!

The Princess

2011-01-03T19:22:00.000-08:00

Well yet again it has been a year!!!!! Cant believe that. Well update on Miss Jordyn (the LIL PRINCESS) unfortunately there isn't much to update on her condition. We still are having seizures we are still cute as ever..... LOL
I passed my LPN Nursing so I now get to be one of Jordyns nurses which is great! I am making up for the last year that I missed being at school.
We go to see Dr. Gupta in March and then we get to go to Cleveland again in April to see Dr. Parikh- who is the specialist who diagnosed the princess 4 years ago!!!!!!! Gotta love that man!!! and owe him ALOT for giving me some answers! Or at least can put a name with the issues we have.
Update on the seizures, well we can have a day or 2 that are pretty good then have really rough ones. Alot of the seizures (tonight its all of them) are screaming afterwards like the most awful, loud scream that stops as fast as it starts, or they are gagging, choking, and sometime projectile vomiting. She could be in the movies between the screaming and the vomit.
Jordyn has 3 good nurses, Tammy, Kris, and Jennifer and then me.
She is still getting physical therapy here at home and occupational also. She has a stander now and had to upgrade to a bigger tumble chair she got way to tall for the last one. she also has another chair with a tray. They are looking into getting a stroller along with her wheelchair..... love the wheelchair but sometime its harder to get out and get ready then the amount of time she is in it in the store.
Well I am going to update more often, and going to get off here and watch the princess. just had some ativan so hope the seizures stop for the night so she can sleep. That is what she needs!!

2010-01-27T13:36:00.000-08:00

Hello everyone! I am sssoooo sorry it has been over a year since I last updated the little princesses blog..... I have been a little busy and actually she has been to.
Well some of the things I can update you all on. We tried the Ketogenic Diet but unfort it really hasnt worked on the seizures at all. They have been better but the have also been worse. The last time we went to the Dr. Miss Tammy went with us (thank god) and 4 ears are always better then 2! But Dr. Gupta wants to get off the Diet since she is still having seizures and so me being me, I wanted to stay on it since it is easy and all. But Miss Tammy agreed with Gupta that she is a lot more at risk for kidney stones. And she helped me realize that he is right since she cant tell us what is wrong and I guess the diet makes them prone to them it IS a good idea because she would be miserable and she will make us all miserable! so actually today we started to reduce the formula for the diet and we will see what happens when she is off it. She always did love to eat so that should make the Princess very happy to be able to eat again. She will just be restricted from milk products due to the disease she has.
We have switched nursing companies and have some new wonderful nurses!!!!!! We still have Tammy who Jordyn loves and we all love and i hope she loves Jordyn too!!!! Kindof think she does. LOL
Then we also have a nurse names Kris she does days at Jordies dads and then Theresa she does nights here and at her dads, she took veronicas shifts since Miss Veronica had ankle surgery and Miss Kathy works days my weekends. So it is working out very well.
Also I am in school for LPN full time days and working full time 3rd shift. so been a little busy, ok maybe a lot busy! Thanks to all my nurses for helping me out! I COULDNT DO IT WITH OUT THEM!!!!!!!!!
We have tried a new med a couple mths ago (like 4) and it did NOT work at all. made seizures more often and stronger and just all around not good! So we are off that and know not to try that again. We have another med that is BRAND new and not sure if gonna try that one or not yet. It has one side effect and its not good it will kill your optic nerve. and since we finally have some vision I would really hate to take that from her! So I asked if the vision is reversible if it doesnt work and the answer was no once the vision is gone it is gone sssooooo,,,,, not sure what going to do there.
We have therapists coming to the house now. VERY NICE! They brought the Princess a STANDER a couple weeks ago!!!!! How exciting. And the best part is she hasnt cried in it like she did at school! She is getting to be such a BIG GIRL! I text Tammy while at school and ask how my baby is doing I get in reply...... SHE IS NOT A BABY!! whats that? She is just a really big baby! LOL She is just too cute! But tammy sticks up for her and doesnt let me call her a baby! What would we do without Tammy? They are all wonderful nurses and I hope they know how much they help and mean to me, US!!!!!!
OK I have to get off here and study some I have 2 finals coming up on Monday so I will do my best to start updating this blog more often, i know I have had a few people ask when I plan on doing it. So that is one of my goals along with passing nursing school.
Hope everyone is doing well. and I will have to start adding pictures of the Princess and if I cant then talk to Miss. Donna and get help to do that.

Little Miss Jordie

2008-10-14T15:13:00.000-07:00

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.

For those who dont know Jordyn...

2008-04-02T09:27:00.000-07:00

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.

I AM "4"

2008-04-01T18:28:00.000-07:00

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.

To help you understand my syndrome.....

2008-03-27T04:31:00.000-07:00

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]