Tuesday, December 30, 2008

BPT - When is it finally over?

The medical literature we have found that accurately depicts our experience with BPT had patients whose symptoms resolved "spontaneously" anywhere from 2 to 10 years later. I have reason to believe that many, many of the anecdotal references and comments about BPT - like in Web MD - merely plagiarize and repeat an inaccuracy from one or two articles about one patient that states BPT resolves within two years, and is not accurate or scientific. The truth is that there are few documented, well studied patients since 1949, when the original diagnoses was accurately made. The fine folks that have replied to our blog have patients experiencing BPT as young as birth and up to ten years, so please just take it one day at a time, because it is my opinion that no one knows how or why it starts or when it ends.
It is with GREAT PLEASURE that my wife and I can comfortably say that Suzanne has "spontaneously", but only after 10 and one half years, resolved her BPT!
The only lingering symptom is one of migraines -just like in the medical literature. Her migraines are different in severity each time, but usually do not last more than 24-48 hours. One or two Advil usually help her through the headache. Only sometimes does she experience an aura like feeling. also, her migraines are not regularly spaced like her BPT episodes were. She actually was very proud to get a nine week Perfect Attendance Award for the first time in her life this past spring semester (2008)!
So, when is it over? We waited anxiously for one cycle of 12 weeks, then two, then 3 before we were convinced that the worst was over. The feeling is fantastic. Remember, each patient is unique in this aspect and some of the 20 families worldwide that have written us have similar cycles, no cycles, and even patterns that have more or less days between the vomiting, head tilts, etc.
I am going to keep this site open because of the need to help Doctors identify this rare "disease" that even pediatric specialists have probably never heard of it, much less the family practitioner. Please post your experiences or write to my e-mail site. We love to hear and respond to everyone. Oh, and remember, computer crashes are part of our lives now, and we may have lost your contact information, so please don't give up if you want a reply or information.

Saturday, March 8, 2008

Jasmine... What's wrong with baby?

What’s Wrong With My Baby?
By Kelly Bruce

I knew my baby was a girl from the very first pregnancy test. I was thrilled, a little baby girl of our very own. When people would ask the usual, “What are you hoping for?” I’d reply the standard, “We’d love a girl…but we’d love a little boy too…as long as our baby is healthy and strong, that’s all that really matters”.

Jasmine Ruby was born nine days early after a very long, difficult and complicated labour. She was born drug-free, alert and breastfed extremely well from minute one. I felt proud, relieved and exhausted with this beautiful little red-headed girl. She was perfect.

During the first week at home, however I started to feel a little niggle that something wasn’t quite right. Jasmine’s head would mainly face to the right, with her chin slightly pointing upwards and all the way around to her right shoulder. She slept only facing the right. The first really scary incident happened in that first week where she seemed unable to move her head towards the left to breastfeed, crying and screaming. I called, hysterical, to my mother in another room, “Mum, something’s wrong with her, I think I’ve broken her neck, help, help!” Mum rushed in and was the voice of calm and reason and everything seemed fine after a minute or two. We put it down to a strong will (like her Mum) and got on with our day.

Even though I was a nervous first-time Mum, dealing with a lot of post-labour complications and trips back to the hospital for myself my instincts kept telling me that something was wrong with my baby.

I mentioned my concerns to the clinic midwives who came out to do a home visit. They gave me advice on how to position Jasmine’s basinet to encourage movement of her head to both sides and told me it was fairly common and not to worry. A flattened spot appeared behind her right ear from lying on it so much. The few times she fell asleep facing to the left side she would wake crying because she was unable to turn her head from the left up to the midline, I would have to gently help her turn her head. Doctors, midwives and the hospital all told me she was fine, not to worry, it was common, she’d grow out of it. I wasn’t convinced and I had this constant sense of anxiety about what was wrong with my beautiful little baby?

Jasmine was a very vomity baby who was obviously distressed and uncomfortable in the capsule and in her little chair. She seemed to have trouble getting comfortable unless it was on her back, facing to the right.

At fifteen weeks things were only getting worse. I took Jasmine to the local clinic’s paediatric physiotherapist who rushed us through, didn’t listen to what I was trying to explain, wasn’t concerned with Jasmine’s flattening head shape, showed me some stretches to do for Jasmine’s neck and range of movement (Jasmine cried the entire time). I walked back to the car and cried. Was I just being a neurotic first-time mother? I was beginning to doubt myself and my instincts and I didn’t know where to turn next.

I started doing the stretches for Jasmine’s neck muscles every day. She slept one night facing to the left side but cried on-and-off all night and couldn’t turn her head up to the middle when she woke in the morning. I knew there was more to this.

At sixteen weeks I was breastfeeding her lying down at bedtime when she suddenly went into what looked like a mini seizure or muscle spasm. Her head flung around to the right, her eyes pulled up to the right corner and her right arm shot up to the right side. She had three of these, each lasting about 6 seconds and cried in pain and fear.

At the follow-up appointment with the paediatric physio she didn’t seem to have any idea what I was talking about with the seizure-type events and said it was probably wind pain! Meanwhile, Jasmine’s head and face shape was becoming more and more asymmetrical from favouring her right. She always held her shoulders up quite high and she seemed more rigid than other babies down her right side when she was held.

More terrifying episodes of spasms/seizures started happening. At the shopping centre when I was carrying her facing forwards in the pouch I felt her little body go suddenly rigid and twist around to the right in an arc shape. She cried and whimpered in pain and fear. Her face looked pale and sickly, it was a completely different colour to normal. Her eyes moved up to the right corner and each spasm lasted about 6 seconds. She had 6 or 7 more of these when we got her home, triggered every time we would lie her down flat on her back. After panadol she gradually relaxed and had a good nights sleep.

I was out of my head with worry when the same thing continued in the morning. We decided to take her to Emergency where she was seen straight away. My husband had to hold down his precious four and a half month old baby girl while the nurses tried to take blood. She was screaming and looking at him with pleading eyes while I cried nearby and he cried as he held her arms down. It was just one of the many traumatic experiences we were to go through on our journey to find out what was wrong with our baby.

The spasms didn’t happen at the hospital (of course!) and the nurses, paediatritian, midwives and doctors could not tell us what was happening. She was admitted overnight for tests. She had blood tests, an ultrasound of her fontanelles in her head, EEG and ECG which were all normal.

I decided to stop doing the stretches as I worried it was triggering these spasm/seizure episodes and I knew her problem was more complex than just a tight neck. I started taking her to an osteopath who was very relaxing for Jasmine and helped her to have wonderful sleeps afterwards. I also started gently stretching Jasmine’s neck in my bed every morning for 2-3 hours while she was asleep, just holding her little head over to the left and gently holding her right shoulder down.

When she reached 6 months her range of movement was gradually improving. I’d also started doing lots of tummy time with her. She started to roll and started sleeping on her tummy which seemed much more comfortable for her. At this time a very noticeable left head tilt started appearing. It would come on suddenly and stay for days. In her rocker chair, in the car, on the floor and in her cot her head would tilt to the left. When she was in her highchair her head would be almost on the left side arm rest on the worst days. She would be even more vomity than usual when she had the tilt.

My husband and I would desperately try to work out what was triggering all this. Was it something we were doing? What were the common factors each time the tilt came back or the spasm/seizure episodes happened? Our list of possible triggers included: too much time under fluorescent lights at the shopping center, being carried upright in her pouch, having vaccinations, being overtired and being put down flat onto her back from an upright position.

None of this made sense to anyone else. I knew I had to start researching for myself. I spent many, many hours over the next few weeks on the internet searching for answers and information. I felt sure we were dealing with either ‘Congenital Muscular Torticollis’ (a reasonably well-known condition involving damaged neck muscles) or perhaps even a rarer form of torticollis called ‘Benign Paroxysmal Torticollis’ which presented as seizure-like episodes, vomiting, headache and periodic head tilting of both sides.

At the next horrible incident of seizure/spasms and crying we knew we had to video it happening if we were ever going to get to the bottom of this. It started once again at the shops when she was being held upright in her pouch. We rushed home and grabbed the camera, my husband filming as I cried and panicked and tried to help my baby.

Jasmine’s paediatritian said it looked like seizures and had nothing to do with her neck. She didn’t want to listen to me when I said I felt sure that it wasn’t actually seizures. She had no time for my questions. I never went back to her.

Our doctor was wonderful and said she really was unsure and that my research seemed to be taking us in the right direction. She got us an emergency appointment with a paediatric nuerologist at Westmead Children’s Hospital. We went to this appointment a few weeks later armed with a complete written history of our baby so that no detail would be skipped over and some of the research we had found. I was really feeling sure that Jasmine must have ‘Benign Paroxysmal Torticollis’. It was the only thing that truly fit.

Jasmine’s paediatric neurologist was wonderful, experienced, thorough and agreed that we had arrived at the right diagnosis. She said she had only dealt with 5 other cases in her career. She didn’t have any new information for us other than what we’d already found on the internet. We had to rule out a few last things before we could be sure that this was the correct diagnosis.

Jasmine had neck x-rays to rule out bone deformities which were normal. I also took her to a highly recommended peadiatric physiotherapist which was pointless. She had an expensive visit to an eye specialist to rule out Occular Torticollis which showed all normal results. We took her across the city to the plagiocephaly (misshapen head) clinic at Randwick Children’s Hospital and the wonderful doctor there was kind and supportive and felt that Jasmine’s head and face was going back to normal now that she was up off her right side more and more. She definitely didn’t need a helmet to reshape her head. We agreed and felt somewhat relieved but also knew that it had taken an enormous amount of effort and heartache on our part to improve her range of movement with very little support from the medical profession in the early months.

The last big test was an MRI to rule out tumors on her spinal cord. This was a horrible and emotional experience for my husband and I and a scary experience for Jasmine, who had to have a general anaesthetic. I will never forget the feeling of holding my baby while the mask to sedate her was placed over her little face. She struggled like she was fighting for her life and then she went limp in my arms as she became sedated. I was shaken and emotional for ages.

All results eventually came back normal. Our paediatric neurologist made the official diagnosis of ‘Benign Paroxysmal Torticollis’ when Jasmine was seven months of age. I sent copies of information about this rare condition to all the health professionals who hadn’t been sure or hadn’t taken us seriously in the hope that they will be better informed if they ever come across this condition again.

‘Benign Paroxysmal Torticollis’ is a rare medical condition that is nuerological.. Most of the medical world have never heard of it and there have been very few studies done world-wide. In fact, it seems impossible to find any long-term research to show what happens to these babies into childhood and adulthood. The medical studies we have found say that it is a non-life threatening condition involving vomiting, headaches, dizziness, alternating head tilts and episodes that look like seizures but are more like muscle spasms and that most children seem to grow out of it by school age.

It is linked to childhood vertigo disorders and migraine disorders. It is passed on genetically, linked to hemiplegic (one-sided) migraine which runs through my family from my maternal Grandfather, my maternal aunties, my sister and myself. A recent study has made some connection with a gene mutation linked to calcium channels in the body. It has also been linked to possible inner ear problems. ‘Benign Paroxysmal Torticollis’ is often misdiagnosed as epilepsy, with babies and toddlers placed on unnecessary medication.

At our follow-up visits with Jasmine’s paediatric neurologist she has suggested trying mega doses of vitamin B2. This has been impossible to give due to the bitter taste no matter how we had the chemist mix it up for her. Our neuro also said we could try her on anti-migraine drugs which we decided against at this young age. She said we could have some expensive genetic testing done but it would only prove that the migraine gene has been passed from me to Jasmine, and we already know that!

Jasmine is now nineteen months old. Last night my husband and I spent an hour sitting on her bedroom floor holding her while she had spasms and then vomited and vomited until there was nothing left. She has started telling me when she feels ‘sickie’, when she needs her vomit bowl and when she needs to lie down in her cot. She gets dizzy some days and rubs her eyes and gets a bit ‘spaced-out’ on her bad days before the spasms start. If we are really vigilant and get panadol into her system at these early signs, we think it might stop the symptoms progressing.

I have kept a calendar of her symptoms from about 4 months of age. She had many months of a pretty regular pattern of left head tilt for 7 days, 2 days of her worst symptoms (spasms, vomiting, light sensitivity, noise sensitivity, rubbing eyes, face a sickly colour, generally unhappy), 7 days of being perfectly normal, then slight right head tilt and the bad symptoms for 2 days then back to the left tilt again!

In the last few months she has had more and more normal days. The spasms and vomiting days are further apart (we even went eight weeks over Christmas between episodes). The head tilt is becoming less severe when it does appear. We are really hoping that it is starting to go.

We are much more prepared and watchful now, for instance we know that a slight right tilt is the sign that spasms and vomiting are on the way. We know that if she has even one spasm, then we have a few minutes to grab bowls, a cool washer and towels before the vomiting starts. We also know that she will always seem to ‘pass out’ into a deep sleep after these episodes. She usually wakes up normal, as though her brain has somehow ‘reset’ itself.

She is also clumsy on her tilt days and needs to be supervised so that she doesn’t hurt herself. We feel that her triggers are: not getting enough sleep, getting too much sun or glare in her eyes, getting sick and even perhaps too much physical/upside-down/rough activity.

Jasmine is a gorgeous, happy, intelligent 19 month old. She reached all her milestones early, is very verbal and active and is otherwise completely normal. She crawled and walked well and her head and face shape are almost perfect. I’m sure some people feel that we are a bit overprotective of Jasmine now and we try desperately not to be (she does Gymbaroo and swimming and playing at the park like the other bubs we know). The hard thing for us is that nobody else in our circle of friends and family has actually seen a full episode happening.

Thankfully both my Mum and my husband’s Mum have seen the vomiting part which gave them some degree of understanding. But it usually happens at night or at home because we see the warning signs and stay home. I do, however, have awful memories of holding a crying spasmsing baby in a shopping queue trying frantically to find something for her to vomit into. We’ve also had to race home from days out and cancel many plans when her episodes have started. I’m sure people have been offended, not realizing what our reality has been for the last nineteen months.

It has only been this week that I have finally found and made contact with another parent who has a child with the same diagnosis. This child is ten and is in the USA and still having all of the same symptoms. I have also found out through this parent’s blog site that there are 2 more babies in Australia with ‘Benign Paroxysmal Torticollis’….maybe more that are yet to be diagnosed.

I have written this to shed some light on this rare medical condition, to share the emotional and frightening journey that we have had, to make contact with any other parents going through the same thing and to provide some information for any other parents who are currently crying their eyes out and tearing their hair out with worry about what is wrong with their baby. Our beautiful babies are going to be fine and even if true migraine does set in during the years ahead there are many options available for their treatment. We learned many months ago that the calmer we stay, the less frightened Jasmine becomes. We still have many questions and will continue to search for more information and for other families dealing with ‘Benign Paroxysmal Torticollis’.


Wednesday, February 20, 2008

Siblings with BPT

What follows is Karen's contact with me regarding her twin daughters and our e-mails. She has agreed to let me post them. Oh, and as Suzanne got older, she did not continously have the head tilt, as in the pictures.

Hi Martin,
Thank you so much for your reply. Absolutely you can post my email and my email address. I would love to network with other families!
Our twins (which are actually triplets - they have a brother who has never had symptoms of BPT) are 16 months old. Our Olivia has it much worse than Cassie. She tends to get it about every month and a half to two months, though she has gone 3.5 months without having them. Cassie has only had 4 so far. Thankfully, they have never had one on the same day. But 3/4 times they had them within 1 week of each other. During these episodes they have to be held all day by one of us because, as you know, they continues to wretch all day and I am afraid of them choking in their cribs. Thankfully, my parents live nearby and come to help if we need them. I have not noticed moodiness before the episodes but I've noticed Olivia is much more emotional for a few days afterward.
When your daughter was a baby did she have a head tilt most of the time? Mine do, but Olivia's does get worse when she is going to have an episode. We did see a pediatric neurologist. I think he ruled out BPT because their head tilt is present more than when they are just going to have an episode.
When did your daughter develope GERD? Mine had it at birth but do not have it any longer. Do you know of any other children who are over 5 or 6 who still have it?
It sounds like you have not found any factors which bring these on, such as change in barometric pressure, stress, etc. I have not at this point.
I am going to try to get these articles. Unfortunately, I do not live near a medical library.
By the way, your daughter is absolutely beautiful!!!

-------------- Original message --------------
From: "Martin Rivera"
Hi Karen,

Sorry it took so long to reply. It appears you may be dealing with BPT…please follow up with a pediatric neurologist if you can. I would also suggest getting some of the medical articles.
How old are your twins now?
Regarding therapy, nothing I have uncovered will resolve the symptoms of the torticollis. The medical literature says it resolves or disappears on its own ‘mysteriously”. My daughter still gets the migraines, vomiting and moodiness regularly every 12 weeks. I have posted suggestions on treating the symptoms, like a cold washcloth on the forehead. She takes Prevacid for the reflux, and Tums when her tummy hurts. Physical therapy was not an option because she complained of pain when trying to straighten her neck during the episodes. As she got older, the torticollis became much less pronounced during the episodes, and not there in between the episodes. We did not try holistic treatments. Suzanne was born within normal delivery times.
My wife, Nancy, and I would like to know more about your daughters and how you are doing with the day to day challenges of having twin BPT children. It must be very hard. Do they both get the episodes at the same time, or are they spread out? My daughter had projectile vomiting for a long time, so we had to have full size towels around when we knew it was time for the BPT. Sleep was always welcome for her and us. The migraine meds she took for awhile helped her get sleepy. She only takes Motrin now, but we have the strong stuff as backup. We are very cautious on using more medicine than needed on our children, since much of it has been studied minimally in pediatrics, especially for the long term use.
Would it be ok with you if I posted your e-mail on the Blog? Just knowing there are other parents out there dealing with the same or similar situation is very helpful to those that finally are getting some kind of answers on what their children have. I can keep it anonymous if you like. Please let me know. Every bit helps. Nancy and I fell that many more children have BPT, even though still in the rare category, but the medical community has very little experience with BPT and very few original, well designed medical studies to reference.

Martin A. Rivera

From: kmlange249@comcast.net [mailto:kmlange249@comcast.net]
Sent: Monday, February 18, 2008 3:37 PM
To: martin.rivera@charter.net
Hi Martin,
My name is Karen and I discovered your blog this weekend. I think my identical twin daughters have BPT, one worse than the other. They have had torticollis which changes sides since they were about 3-4 months old. Once every month or two they have episodes in which their headtilt becomes worse and they appear to have a migraine (squint and push on eyes, vomit and wretch for hours, become very lethargic and sleepy). The head tilt gets better afterward but does not always go away. The episodes seem to be getting longer - last 1-2 days. They have never had seizure-like symptoms.
What do you think? Do you think this sounds like BPT? They were diagnosed with migraines but it just didn't seem to fit because of the torticollis.
If you don't mind I have a few questions:
1. Did you find any kind of treatment that helped? Did you try any holistic treatments? We have tried some osteopathic manipulations but I don't know if they are helping.
2. My daughter was born 2 months prematurely and had reflux (was on zantac, reglan, and prevacid). Does your daughter share any of these?
Thank you so much for your blog and for your help! I finally feel like this fits better than just migraines. By the way I am also an occupational therapist :)

Friday, January 18, 2008

Benign Paroxysmal Torticollis, or BPT, is NOT Epilepsy

Although children with BPT exhibit seizure like activity, with arm, leg, head or other movements described as shaking, jerking, or limbs extending and contracting, I am not aware of any BPT diagnosed child actually having epilepsy or showing any sign of abnormalities on a variety of tests, including lab work, MRI's, Cat Scans, etc. in the brain.

Also, I am not aware of any BPT patient in contact with me or in the medical literature that has shown any benefit to being on anti-seizure medications. The cause of the BPT is unknown and these medicines are treating a known cause that doesn't exist in these children. Usually after a trial of several months without improvement of the BPT symptoms, the parent decides to discontinue the medicines and realizes, thankfully, that it must be something else medically. Remember, most Doctors have never seen or read about BPT, as very few documented cases have been published and followed for the length of the BPT to resolution. Dr. Snyder did this in 1969 and most recent articles use his publication as a reference and quality study.

Epilepsy can be diagnosed, in my experience, more easily and only then should these potentially dangerous (on major organs) medicines be given to infants. Even more important for the child's future is that a misdiagnoses of epilepsy could haunt this child in adulthood when found in their medical records when it comes to insurability, and possibly employment for certain jobs. These comments and opinions I offer from my own research and experience with BPT and working in the medical field ( not as a physician) my whole career. Please use them as a guide to develop your own perspective and conclusions.

Thursday, January 17, 2008

Another child with BPT -

Here is another child's blog with BPT.Excellent descriptions -thank you for posting it for everyone to learn from. It is clear how much you love your son.

Emotional Stresses of loving a child with BPT

We aren't really sure exactly when we noticed Suzanne was holding her head on her shoulder (tilting), but pictures we recently dug out show that it was probably from birth. The Doctor had to use forceps to deliver her, and I always wonder if that was part of the cause. We will never know.

My wife probably knows better, but she started throwing up, crying, and getting really fussy during the first few months of being born. [She still gets irritable a few days before the next episode is about to start, kind of like a warning.] Then she had the seizure like episode that sent us rushing to the pediatrician. Again, he told us all kids get those, and that to expect it when she had fevers. Being our first child, it scared the hell out of us! Something wasn't right.
It took us a year of heartbreak, worry, grief, crying, frustration, anger at God (by me) for letting a little, innocent child suffer so, and many more emotions before we successfully uncovered BPT.

A note about our wonderful pediatric neurologist. He showed a great amount of interest early on, even sharing that he wanted to share the pictures, videos, and case of our daughter at a conference in Barcelona, Spain. He never did. Disappointing because we thought this might get us more information on what approaches we could take. Then, as she got older, and different medications were tried with little or no success, his interest waned. We learned how to manage her "episodes" with little outside medical help, and she hasn't seen him for years. We are going to make an appointment to update him and keep BPT awareness in his practice current with Suzanne. He did prescribe Migraine meds that helped for a period of time, but we found as she could communicate better that the safer Motrin was giving her just as much relief.

My wife's' employer has been very, very understanding and gave her the Family Medical Leave Act coverage on an as needed basis for 2-14 days at a time. Although this is unpaid leave, it protects her position at work. Also, we had some help from family.

How we work it is that I am able to take a half day off during the worst parts, usually the first 24 to 72 hours, then my wife would come home around lunch time so I could go to work. Sometimes we had to take personal days or vacation time, because your child being sick does not permit you to take sick leave. Sometimes we were so tired or mentally worn out that either one of us called in sick for a day or two. We have been doing this for almost ten years; although, the last couple of years Suzanne's episodes are of shorter duration and intensity. We understand that the BPT resolves itself spontaneously within two to twelve years - we must be on the 12 year track.

She now gets migraines or headaches with the eyes slightly rolling back into her head, vomits, and sleeps. We discovered early on that a cool, wet washcloth on her forehead across her eyes really, really gave her comfort and helped her sleep. This was a time my wife and I could rest some, because after each episode, sleep seemed to give her a break before another one came up, usually between 30 minutes to several hours later. I don't think she ever threw up while asleep. We learned to always keep a container or bucket or trash can nearby for her to throw up because there was no time for her to get to the bathroom. Also, she usually did not want to eat anything or drink anything until the episode was all over. If she did manage to eat some saltines or drink some clear liquid, she would immediately throw it up until she was dry heaving. Nothing could have been left in her little stomach. Obviously, this was a cause of great distress for us and a feeling of hopelessness. Also, we were concerned of the acid reflux going through her throat so much. The Prevacid or Nexium really helps. Let me assure you that nothing can replace the comfort of being there with her and for her. She sometimes asks why this is happening to her and no one else, but she has learned how to cope and accept what she has. The best we gave her is that we will always be there for her, no matter what.

At times my wife and I felt we were near the end of our wits, but watching how a tiny little person could deal with something like this and be totally happy when it was over, usually with a huge appetite from not having anything to eat, let us know that we could do better. Hopefully, she never saw us cry or be sad because we kept those emotions behind closed doors. We wanted her to be positive and have hope even when we had doubts or frustrations. Oh, it is also so very important to be supportive of your spouse during these times. Everyone can be at their weakest points at separate times or even at the same time, but recognize this and realize that it is the situation, and not the person that is making it hard. Those times always pass, so don't accuse or blame anyone, even yourself, for the BPT. So be there for each other, too.

A couple of other items to be posted later: we did have another child, after much discussion and research on the possibility if this runs in families -he does not have BPT; she developed hearing loss around 2-3 years(mentioned in the articles), then diabetes around six years (also mentioned); she also wears glasses 'sometimes' and this helped with some of the minor headaches. It looks like most kids just have the BPT. You can imagine how much energy, time, and money this has taken. Despite all of this, she is very smart, popular in school, knows that her medical situation does not limit her to do or be anything she wants and has, what I think, is a very positive outlook on life.

We welcome all comments or questions on this site. Thanks for visiting.

Monday, January 14, 2008

BPT (benign paroxysmal torticollis)-Finding others with similar conditions that are Rare

Makingcontact.org is a good place to search for rare diseases, conditions, or medical puzzles - like Benign Paroxysmal Torticollis. I have been informed and assured others have experiences similar to ours. It is anonymous, but you can request to have your information available to others you choose.
I hope this helps.

Medical Journal Benign Paroxysmal Torticollis articles

Here are the articles that helped us arrive at a diagnoses.

Amer J Dis Child – Vol 117, April 1969 pg. 458 “Paroxysmal Torticollis in Infancy” by Dr. C. Harrison Snyder, New Orleans

“Benign paroxysmal torticollis in infancy” Thierry Deonna & Dorothea Martin
Medecin-associe, Service de Pediatrie (Unite de Neuropediatrie)CHUV, Lausanne, and Basler Kinderspital, Basel Switzerland pg 956-959

Clinical Pediatrics Vol 23 No.5 pg 272 May 1984
BPT in Infancy by A. Hanukoglu, E. Somekh, D. Fried

Developmental Medicine and Neurology, 1988, 30, 407-412
Article BPT in Infancy

The Journal of Bone and Joint Surgery Vol 74-B, No. 3, May 1992 Pg 449-451
BPT of Infancy

BPT of Infancy
Dr Herman A. Cohen, Moshe Nussinovitch, et al
Pediatric Neurology Vol 9, No. 6 pg 488-490 (Israel –published June 7, 1993)

Pediatric Neurology Vol 19, No. 3, pg 236-238
Electromyographic Study in Infant With BPT
Seiji Kimura, MD & Atsuo Nezu, MD

Clinical Pediatrics September 1993, pg 564
Dr Sule U. Cataltepe, & Todd F. Barron, MD
BPT Presenting as “Seizures” in Infancy

Saturday, January 12, 2008

ORIGINAL POST: Does my child have BPT -(benign paroxysmal torticollis)?

ORIGINAL POST: BPT or Benign Paroxysmal Torticollis may be more prevalent than the literature in medical journals acknowledges. I am the father of a beautiful girl that has this diagnoses for 9 years and 10 months this January 2008 - much longer than I frequently find quoted as an answer by many web based MDs. They typically quote from one of the journal articles I found that this will only last about 2 years and resolve itself. Yet many other articles state experience published that BPT could continue for around 10 years - my experience with our child. I also have a younger son that does not have BPT.
My wife and I have kept a journal, including pictures, videos, and medical records and are interested in sharing our experience and data with anyone interested. We are not physicians but both work in the medical field.
The first sign we had that something was wrong was the head tilt in the first couple months of being born-mostly to the left, but sometimes to the right. This continued for about 1.5 years until her neck became stronger. Episodes of vomitting, seizure like tremblors, sensitivity to light, headaches progressing to migraines, inability to stand or walk during the episodes due to dizziness and imbalance, and sleepiness have occured regularly every 12-14 weeks without fail.
She is quite smart and developing normally, but like some of the children in the articles we have, she has hearing loss , uses reading glasses occassionally, and then became a type I diabetic at age 6.
We somehow are living a "normal" life and are lucky to have good jobs and insurance to meet most of the expenses.
This is a quick summary to start this blog so that others may become aware and use as as a resource in getting information about BPT or sharing some that you may have. Eventually we want to post pictures and videos so that you can "see" what we are talking about. Mostly, we hope to help others avoid or lessen the tremendous amount of expensive, time-consuming testing, x-rays and MRIs, blood work; including the fear and sadness of not knowing what you may be dealing with. We also had our daughter try different medications (anti-epilepsy, beta blockers, adult migraine medicine) that were experimental in nature to treat the symptoms with little or no effect. She does take Prevacid for reflux (GERD) and children's Tylenol or Motrin when she has the episodes. If anything else works, we have not found them yet. We decided not to use her as a guinea pig with more dangerous medications because the literature all states that this will eventually reolve itself with time. Our prayers have not been answered yet for this to end.
I hope this gives someone a face to what their most precious child may have so that you can move forward in becoming informed. Two of our first pediatricians misdiagnosed what we explained what our child was going through as common pediatric seizures from possibly high fevers. Clearly not what we described. We have great faith from physicians, but there is still a lot that is not known, and some are reluctant to admit they do not know. Fortunately, our pediatric neurologist kept listening to us and digging deeper in the literature until he found some articles that accurately described what we were observing.
I hope this may shorten that that time frame to sense the relief we felt in having the right information in what we were dealing with for you.