Aussie with narcolepsy

Sandra - posted on 01/24/2009 ( 9 moms have responded )

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Hi, my name is Sandra from Canberra, Australia. Our 7 year old daughter was diagnosed with narcolepsy in June 2008. It has been a non-stop merry-go-round ride. She has symptoms of EDS, cataplexy and hallucinations. She started on Modifinal (Provigil) but that didn't work and went onto Ritalin. The past month we have changed to a slow release form of methylphenidate know as Concerta which she takes only once a day in the morning for EDS and amitriptyline (Endep 10) for cataplexy at night. We've been told it good to be diagnosed so early, but at times we still very helpless but are starting to manage our daughters life living with narcolepsy. We still (and probably will always) ask WHY her? Good to know that she/we are not alone. Thanks for listening or should that be reading this post. Cheers Sandra

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Julie - posted on 04/27/2009

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Sandra, I read your long doctor/testing ordeal with your daughter. With so many different tests listed, my mind got a little confused. Did you have a blood test to check specifically for Narcolepsy? I had a blood test to see if I carry the "gene" and I do. My Dr. told me that just because you might carry the "N gene" it does not necessarily mean you will ever display the symptoms of Narcolepsy.



Two weekends ago, I had my second sleep study test. One for the Sleep Apnea and the daytime test for Narcolepsy. I have not seen my Dr. yet for the results, hopefully I will get in to see him this week. I asked the guy at the sleep study clinic what percent of people have both obstructive sleep apnea and narcolepsy.....he said not many. I am lucky, I guess. lol



I get very frustrated because I often fall asleep during church. We attend an Adult Sunday School class first hour which I rarely have problems because it is an interactive class, but the second hour which is 10:45am, I appear to be alert, but my notes will suggest otherwise. That is very frustrating.



I used to fall asleep in the car within minutes of driving somewhere, even if it was just around town (when I would be in the passenger seat). My husband would laugh at me all the time. Sometimes he would get so frustrated when we were driving around looking for homes, cause I would never remember what house was in what neighborhood. Now that I am on meds (for the last year & 5 months) I am more alert. Which is great to be able to enjoy my family car time more.



Sandra, please keep telling your little one that she is a bright, intelligent child. I spoke to someone at Narcolepsy Network here in America and this lady told me that most people with Narcolepsy are very intelligent people. It's that the N keeps it from showing. My experience is that there will be times where the meds need to be adjusted. My husband has thought that because I am on meds. ALL my symptoms are now gone. Not so. I have already had to make adjustments with my meds simply because the body gets used to them.



I will pray for your little one. Do you mind sharing her name? I love to pray being more specific with names. If you don't want to share her name, that is o.k., I understand.

Laura - posted on 03/09/2009

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Sandra, what symptoms wasyour little girl having? Was it like ADHD? I read somewhere that kids with that DX may suffer from N. My son has this and my first cousin suffers from severe N. What does EDS stand for? Looking forwar to knowing more, I am so thankful to be able to speak to others with this disorder. I was DX 2 years ago.

I can remember as a child having a real weird sensation and the only way I can describe it was I felt like I was there, but not there. If that makes sense. It used to freak me out. But it makes a lot of sense now.

My first real big C. where I was completely aware happened about 5yr ago. I was playing on a teeter totter as all grown adults do and I was laughing so hard that became like a rag doll and was so helpless that I could not hold on and fell and hurt myself. It was awhile before I could get up and I had no clue then and had never even heard of C. But that also makes a lot of sense.

Laura

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Rachael - posted on 03/08/2011

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Hi, Cath, Welcome. I just read your post and I thought I'd let you know that I had a Doctor's appointment a month or so ago and I told her my concerns about Tori getting N. She said not to worry about it. That it was highly unlikely to be passed on to our children. She said it is actually only about 5% hereditary.
I would also like to let you know that your story is quite inspiring and makes me believe I won't be stuck in a fish plant forever.
Welcome to the group.

Cath - posted on 02/11/2011

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Hi Sandra,
I see you posted the original entry about your daughter over a year ago, and I have not read all the replies, but thought I would get in contact anyway.

I have just moved to Canberra from NZ and was diagnosed with narcolesy 8 years ago. I was in my early 20's but in hindsight I had probably had it for some years, beginging some time in secondary school.

Since being diagnosed I have lost 32kg, have got into running half marathons and doing triathlons, have completed a post graduate degree and had 3 kids. Narcolepsy is definately an impairment and I have had to do everything differently to how I would have done it had I not had the disorder.

I worry about my kids getting it as it has a hereditary element but I hope they see me with it, and see me getting on with things, mostly anyway. I have my days when I hate it, hate having no memory, hate not being able to do things because I have to plan around medication, or because I might put the kids in danger. But mostly I have put in place some strategies and get on.

If you are still in Canberra and would like to meet up let me know. I found a lot of ways to study with narcolpsy and found ways to get through exams and tests etc.

CT

Sandra - posted on 05/11/2009

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Hi Julie, thanks, its nice to hear and learn about what everyone is or has experienced with narcolepsy. Our daughter's name is Talya (can also be spelt Talia - we choose the 'y' instead of 'i'). She will be 8 in July. Yes she has the 'gene' marker too. They weren't specifically looking for Narcolepsy but thought do the test as part of the process of elimination but is showed positive and it was good we had the result in time for her 1st sleep study because they wanted to have it done too. My husband and I are yet to be tested to see if it is genetic. We were also told the same having the gene doesn't necessarily mean you will have or have narcolepsy. I was reading on the Narcolepsy Network website about the study into a possible link to narcolepsy being autoimmune .

Laura - posted on 04/26/2009

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Sandra, I appreciate the long story; I had all of the same studies. I was so sick that I had lost a lot of weight and was in and out of the hospital with serious illness, such as pancreatitis. I was about sure I was going to die, as did others especially the docs. I then had the same testing that your daughter did. I fell asleep most of the five naps and went into REM on the average of 3sec. My boold levels were low for the latency and the other test.

I think my love of storm chasing and anything that will cause me to have an adrenelin rush is to keep me awake.

I am a nurse and raised 3 children and did not find out that I had N. until 3 years ago, so anything is possible.

Iam sorry I did not get back to you sooner, can I add you as a friend,so I can keep up with you and your daughter?

Rachael - posted on 04/20/2009

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Hi Sandra,
I'm sorry to hear about your daughter. I know it's tough, just try and remember it could be something much worse. It is good that she was diagnosed so soon. Many people including myself go for years knowing something is wrong but have no idea what. The best thing you can do for her is just be suppotive. Any time you need to just vent or you have any questions, you're not alone. Feel free to write.
Good luck and hope to hear from you.

Sandra - posted on 04/19/2009

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Quoting Laura:

Sandra, what symptoms wasyour little girl having? Was it like ADHD? I read somewhere that kids with that DX may suffer from N. My son has this and my first cousin suffers from severe N. What does EDS stand for? Looking forwar to knowing more, I am so thankful to be able to speak to others with this disorder. I was DX 2 years ago.
I can remember as a child having a real weird sensation and the only way I can describe it was I felt like I was there, but not there. If that makes sense. It used to freak me out. But it makes a lot of sense now.
My first real big C. where I was completely aware happened about 5yr ago. I was playing on a teeter totter as all grown adults do and I was laughing so hard that became like a rag doll and was so helpless that I could not hold on and fell and hurt myself. It was awhile before I could get up and I had no clue then and had never even heard of C. But that also makes a lot of sense.
Laura


EDS - Excessive Daytime Sleepiness.  Jan/Feb 2008 she kept falling asleep after school, for 2 or 3 hours, she was in Year 1 (age: 6 1/2) and when we went anywhere in the car she'd be asleep within minutes.  She never woke looking rested and was quite 'ferral'.  She wasn't  the usual happy, excited, busy little girl anymore.  People started to notice a change in personality and she began to lose confidence (total opposite to our little girl). 



People said its school and the change from Kindergarten to Year 1 etc., but I wasn't convinced.  She'd fall asleep eating dinner, she would slur her speech and it was almost like she was on 'drugs' or drunk.  It was funny at first but it continued and it was really upsetting.    She gave up her day sleeps at age 2 and 1/2 so why sleep now?  Often falling over, sometimes due to laughter or in anger, now we know its Cataplexy which is emotionally driven.  The funny thing though she wasn't like it during school hours, we assume because of the stimulation.  On a visit to our GP, luckily he witnessed what we were seeing, he described it like 'absent' seizures.  Maybe epilepsy.  Our GP did some blood screens, and referred us to a paediatrian.  in the meantime her blood results indicated low ferritin, her count 14 anemic (should have been in the range15 to 200).  So commenced iron supplements.



Paediatrian saw us in April 2008, she thought epilepsy but not convinced and mentioned possible narcolepsy, although uncommon especially at this age.  (She had a case some years ago involving a young child with N). She asked if she had any trauma to the head or emotional trauma.  We said no.  Organised an EEG, Hormone Tests, Xray of her wrist (Bone age xray) as Talya is very tall for her age, way outside the percentile and always has been.  (Currently 141.2cm height and 42kg weight - sorry Aus. is metric!!).  and an MRI Scan of her head to eliminate tumor etc.  She also had Tayla admitted to the hospital to see another Paeditrican who was on hospital rounds the following week with whom she worked with.  He also agreed thet the same tests be done and thought more along the lines of sleep apnoea then narcolepsy.  He arranged a consult with Dr Arther Teng, Director of Sleep Medicine, Sydney Childrens Hopital.



In June 2008 Sleep Study Report:  no apnoea.  Oxygen saturation well preserved.  Sleep generally fragmented (and still is).  9 periodic limb movements per hour of sleep (anything over 5 is abnormal apparently). Of total sleep time which numbered 440 minutes, stage 1-2 sleep comprised 47.2%, stage 3-4 sleep 27.8% and REM sleep 25%.  Latency to REM sleep 67.5 minutes.  A MSLT (Multiple Sleep Latency Test (MSLT) or Nap Test was also undertaken.  She was given 4 opportunities to fall asleep after the sleep study separated by 2 hour intervals.  She slept in 4 out of 4 naps.  Sleep latencies were 0 minutes, 0 minutes, 3.5 minutes and 0.5 minutes.  This gave a mean sleep latency over the 4 naps of 1.0 minutes.  REM sleep was observed in 4 out of 4 naps.  The conclusion was:  The sleep study is pathognomonic of narcolepsy.



She also had a HLA tissue typing:  HLA stands for " Human Leukocyte Antigens" and she has the genetic marker which may be a pointer to narcolepsy but unfortunately many people without narcolepsy also have the marker.



Also before being diagnosed, the period between May to June, she would fall asleep at school mid morning, or when sitting on the floor listening to a story read by the teacher, in school assembly and in church (she attends a catholic school, so mass is every Thursday morning).  On the playground if she was tired after running or in our hot summer heat she would get what she called 'wobbly legs' and fall to the ground.



After diagnosis:  We tried Modafinil without long term success and is very expensive here in Australia (not that we would't pay the price it just didn't work for her).  So her Paediatrican prescribed Ritalin and we couldn't believe the difference with such a quick turn around.  So are now on Concerta, extended-release tablets (Methylphenidate hydrochloride) daily and in the evening take Amitriptyline to help control cataplexy.  Also took iron supplement up until Jan 09 when her ferritin level was 199. (Dr Teng wanted a ferritin level of at least 40).  So off the iron supplement at present.  Wonder if there is a link?  As for AHAD, I never had her assessed - I just thought she was a high maintenance child - LOL, no one ever suggested she was or has AHAD.  She is quite bright (and I'm not saying that because she is my daughter....rahrahrah and she is only in Year 2 now).  She reads really well for her age and came through with a great school report for Year 1, especially in maths and english, considering she probably spent more than half the year trying to stay awake! 



Anyway hope this makes some sense to you and sorry the reply is so long........



cheers



Sandra



 



 



 



 



 

Rachael - posted on 01/27/2009

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Hi Sandra, Wow I didn't even know they could diagnose Narcolepsy that young. IT must be a relief to know what's wrong. I know it must be very difficult. Your poor little girl must really be freaked with all that goes along with it. God love her. I tell ya it's gonna be tough. She's really gonna need your support, especially when it comes to school. I ask the same question all the time "why me?" But I just try to remind myself it could be much worse. Thanks for joining and Good luck

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