Looking for fellow CPT-II Deficiency patients
Posted , 11 users are following.
Hello. I am a 21 year old male looking for more information regarding this disease, specifically treatment options and their effectiveness. Specialists ordered a DNA test to confirm the diagnosis a few months ago so I will have the results in May, they're quite sure of their diagnosis given my symptoms and a severe carnitine deficiency in my blood.
It's classified as a genetic metabolic disorder so I think this is the right place to ask. However I can't find much information about this disease and its treatment options.
I'll start with my symptoms:
Started with constant pain in both lower legs ~2,5 years ago.
The pain became worse over time and has never went away since.
The past year I also started experiencing severe muscle cramps in my legs during physical activity, which also progressively got worse.
I can now no longer ride a bicycle, run fast or travel long distances. These cramps have also spread to my upper arms and for the past months has started interfering with simple household tasks. To give you an example, my legs cramp after walking up/down a set of stairs and showering, making my bed, ... is a very exhausting activity for which I require help from my mom now.
A few months ago when the cramps worsened it also started affecting my breathing. My voice is a little lighter now and I have trouble speaking while performing a physical activity such as walking. Catching my breath is frequently required. Physical activity also significantly aggravates my symptoms. The more activity, the more chronic pain and cramps I get the next few days. The specialists have advised me to keep activity to a minimum because prolonged activity can also trigger rhabdomyolysis (severe muscle wasting). Activity seems to affect the kidneys somehow because my urine usually becomes brown if I move too much, despite drinking plenty of water.
It took roughly 2 years for doctors to get an idea of what's wrong with me because my body appears perfect unless you know what you're looking for. I'm currently being treated by a special team that only accepts specific unsolved cases when everyone else has failed. They soon found elevated CPK (15000+) levels in my blood and also a significant deficiency of my carnitine levels. After several other tests they came to the conclusion that CPT-II deficiency is the likely diagnosis.
I've been trying to find information about treatment or others who have this disease but my searches have come up empty.
If you know anything about this disease, it would greatly appreciate gaining some insight about treatment options.
2 likes, 13 replies
maksav36 Voidal
Posted
I was diagnosed with CPT-II deficiency this past December. I am a 17 year old female and I started having symptoms and episodes when I was 14. I play volleyball and was hospitalized last July because of an 8 hours day, 4 day volleyball camp. Since I didn't eat breakfast before volleyball, I had an episode the first day. The second day, I was in a lot of pain from the previous day. After one hour of practice the second day, I could no longer continue because my legs were hurting so badly. By this time, I had experienced around 8 episodes before this one, and my parents just thought that I wasn't hydrated and that it was just cramps. I had blood drawn the day that I couldn't continue the volleyball camp. We were told that we'd have the results in two days and for me to just rest. We got a call that night around midnight from the pediatrician on call that I needed to go to the hospital and that some levels were elevated and that I needed to be hooked up to an IV. When I had blood drawn from earlier that day, my CPK level was at around 28,000. I was getting fluid all night, and I had more blood taken In the morning. My second test result showed that my CPK level was at 48,000. My kidneys and liver were monitored and no signs of damage or anything was shown. After being on an IV for around 35 hours, I was released when my CPK level was at 10,000 (due to the need for a bed because of over crowding). After months of genetic testing and other tests, I was diagnosed in December with CPT-II. I was told to avoid strenuous exercise and to always eat as soon as I wake up because I have trouble in the mornings and I become very weak if I do not eat. I have also noticed that I will have muscle cramps and weakness with stress or anxiety. Your triggers will probably vary. I just finished the same intense volleyball camp one year after being hospitalized. I have learned that eating (and snacking pretty much constantly) decreases my risk of having an episode dramatically. I have also noticed that whenever I take ibuprofen that my top lip (and sometimes bottom lip) will swell to a fairly large size. My mom read a couple of weeks ago that people with CPT-II should avoid taking ibuprofen. I have looked up stuff on as to why, but can't find anything on it. Do you have any questions about CPT-II or my experiences with having it?
Voidal maksav36
Posted
Thank you for your valuable information. The specialists are currently testing my DNA to confirm the diagnosis. They said they're pretty sure about CPT-2 because of the tests on my carnitine they've done and all my symptoms matching.
They said the disease normally acts up in episodes but can also be constant in severe cases.
For a while it was just chronic pain in both lower legs but about a year ago I started getting intense muscle cramps during the slightest activity as well on top of that. Mostly my legs at first, now my arms and even hands as well. The doctors gave me carnitine supplements while I await my DNA test results and they've improved my movement capabilities a little. I can now shower comfortably again, do some more household tasks without too much cramps. The annoying part is any time I do an outside activity like going for a drink at the bar with friends or even just going to watch a movie, the day after my entire body is sore for the next 4 or 5 days and the pain in my legs get worse for a few days. The doctors also told me to start the day with a good oatmeal breakfast and to eat frequently with healthy snacks throughout the day. That seemed to improve my condition a bit as well.
I haven't been told much about treatment options or if I'll be able to live a somewhat normal life again given the severity of my case. Besides carnitine supplements, avoiding triggers and a specific diet is there anything else the doctors can do about the disease?
jeff65888 Voidal
Posted
Hi, My name is Jeff.
I am 56 and have had CPT- II since I was a little kid. Back in the late 60's and early 70's Doctors knew nothing about this but I coped intuitively. The best advice my pediatrician gave my mother was : "I don't know what it is but what ever you do don't let this kid feel like he has a problem. When he feels better have him resume activity" In a physical way that wasn't the best advice but it was great advice in terms of the psychological aspect because I didn't deny myself anything. The hardest part is not sucumbing to peer pressure and to stop before the process begins. Once the process begins we are talking minutes not hours. It is important to be aware of all the dynamics. I was diagnosed in 1997. Since knowing what it was I have been able to avoid major attacks. I would be happy to be of help to anyone who needs it, the only trouble being that it would require a ton of typing every time someone wants info. I used to be the poster boy on the internet for a website called "The Spiralnotebook" (back in the late 1990's) but the site dissappeared some years ago. I have seen a geneticist in Tucson who appeared impressed with how I deal with it. If you want to contact me perhaps you could send a phone number somehow. This condition is NOT something that will destroy you if you just keep your awareness up. It is baggage I carry but I carry it in my pocket rather than on my back.
JEFF
priti108 jeff65888
Posted
hi jeff
how do i get tested, i live in london area and was diagnosed with fibromilagia 14 yrs ago, i cant lead a normal life at all, its just a slow painful torture, i think i have cpt2, how to get tested please ?
meov Voidal
Posted
hello
I have been diagnosed cpt2 deficency. I am currently in hospital my ck was about 390k yesterday. today it's about 280k
It's great to have cpt 2 friends. and this illnes is a bitch I know that. I cant even pull my head from the bed.
I love you all
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priti108 meov
Posted
hi there
i was diagnosed with fibromialgia 14 yrs ago, i live in a painful hell and would have chosen to die years ago but i am a single mother of 3, so i am existing for them,
i think i have cpt2 as the symptoms are the same, how do i get tested, i live in london area and how can we all link up to share info ? x
jennifer61566 Voidal
Posted
My son has been diagnosed at birth with a CPT 2 deficiency, your diet should consist off 10/20 grams off fat, 375 grams off carbohydrates. 75 grams off protein... he's sees a cardiologist since with a CPT 2 deficiency is a high risk off cardiomyopathy.
You should get a CPK blood test, when ur muscles break done it releases, (I forgot what it's called) which is bad for your kidneys. Prolonged periods off fasting and exercise can bring on attacks. Changing your life style with food helps a lot... I don't know if you know this but this metabolic disorder, your missing an enzyme that helps break down fats, so if ur not on a special didn't your kidneys can be affected, hope this helps
joyce77338 jennifer61566
Posted
I am currently pregnant and the doctors confirmed my child is also suffering from CPT2 D. how did it go with you and what type did your child had? I am really emotionally down....
Joelymich joyce77338
Posted
My son was diagnoswd with CPT2 during my pregnancy too. He is now 9months and had been ok until two weeks ago when he had his first episode. His CPK levels reached 30,000. We were released from hospital and this past sunday he had a second episode. Both were brought on by a virus. My geneticist recommended Monogen formula instead of regular formula. It is enriched with 90% MCT oil which acts as a supplement. We are hoping this will help. How is your baby?? What recommendations has your pediatritian given?
rikard00396 Voidal
Posted
Hi! Diagnosed with cpt2 deficiency 18 - 20 years ago. 44 years old today. If you google bezafibrate, cpt2 deficiency, Sorbonne and bezalip you might find help. There is a paper from Sorbonne that suggests that bezafibrate might help with cpt2 def. Bezafibrate is used in a cholesterol medicine called Bezalip. If I remember correctly, the paper recommends 3 x 200 mg/pr day. I take 2 x 200 mg/day and it has given me a whole new life! I can move around and walk in ways I never could before. 3 x 200 mg might be too much, because the medicine can give you side effects that are similar to the cpt2 problems, like muscle pain weakness etc.. Good luck!
http://medbroadcast.com/drug/getdrug/bezalip-sr
priti108 Voidal
Posted
hello , i have been suffering from this for 14 yrs but no one ever suggested i have cpt2 they just said i had fibromilagia, i dont know the symptoms you cpt 2 sufferers have are identical to me,how do i get tested, i live near London, doctors are rubbish here
priti108 Voidal
Posted
hello i am 49 yrs and have suffered hell with all over pain day and night for 14 years, i would have ended my life but i am a single mother and one of my 3 kids is disabled, so i wont be taking my life, but i cry in pain every day, i have never in all my 14 yrs of hell heard of cpt2 until last week, how do i get tested ? i live in london area, where is every one from on this forum, are we all in UK ? how can we all connect is there any support for us ? ys Priti
nate03426 Voidal
Posted
Hi
i know this thread is old but i was wondering how your are doing now ?
i have just been diagnosed with this condition and i was wondering if yours has improved or if you've found any ways of helping the condition ? have you ever been able to return to exercise ?
Thanks , hope you're well