Thursday, March 8, 2012

BPT and Hearing Loss

My daughter was diagnosed with BPT after an excrutiating first year refuting many misdiagnosis', as can be seen during the early history posted here. We noticed something was wrong in the first six months of being born.
I post this because the earlier studies on BPT mentions a causal relationship with hearing loss. Suzanne was diagnosed with hearing loss at 3 years of age (she also became Type1 - insulin dependent at age 6) and has been wearing hearing aids ever since - not covered on most insurance plans!
Since then, I have heard many questions about hearing loss on the Facebook forum, usually from families with no prior history of auditory problems. Although I can find no proof, probably because of the ignorance of the medical community and the lack of profit from such a "small" group of patients ( after all, they all "grow" out of it, right?), I personally believe there is a relationship there somehow. I can not explain it, but believe there is an auditory, imbalance, spacial connection somehow.
Incidentally, Suzanne is a straight "A" student, typical teen, with a very mature awareness of her physically tested past. Her BPT lasted 10 and a half years before "resolving" itself. I can not remember the last time she had a migraine headache - probably more than a year ago, but she can get strong headaches that we treat with an Advil type analgesic with higher doses - 400 mg four times/day.
I hope this helps answer some of the recent inquiries I have had.

Thursday, January 7, 2010

Update 2010 - no more symptoms

As we start the year 2010, we now know what it is like to have a child that is symptom free of her long standing BPT. The past nine months have only experienced a couple of very mild migraine type headaches - nothing like Suzanne used to have during the BPT years. Alleluia!
We now have much fewer missed work days, more time enjoying our family, and less stress coping with all of the ramifications of the BPT episodes. Suzanne continues to be a happy child, excelling at school and other social activities. She is a pre-teen, so we are noticing the hormonal changes and mood swings. The joy of parenthood, right?
We want to encourage you to persevere with physicians and health care people that have never been exposed to BPT. Share what you know, and trust your instincts in seeking treatment for your child. Do not succumb to unnecessary medication once this diagnosis is made. Our experience is that the seizure medications have no measurable effect on the BPT episodes, but have side effect possibilities that could be a negative factor long-term. Seek guidance and understanding from a pediatric neurologist.
We are always available to share our knowledge, and now can be found on a Facebook page, too. With love and understanding, The Rivera Family in South Carolina, USA.

Thursday, April 16, 2009

Phin's Story

Sunday, March 09, 2008

Our son Phin (the beautiful little man who prompted me to start to this website) was born naturally with no complications but suffered severe jaundice a few days later, ending up under lights for 4 days. Other than that he seems completely healthy and normal, although he would only breast feed on one side, refusing to lay and feed on the other side

Within a week or two we noticed that whether in his cot or in his pram his head, more often than not, would be over to one side. No particular side was favored. The strange thing for us was that we could straighten his head up, with no apparent discomfort caused to our son, but as soon as we let go it would just tilt back to where it had been. From the time he was born, when lying in your arms he would bend his neck backwards really hard against your arm, so hard that alot of my family members couldn't hold him for long. It was like he was always wanting to look at the roof or the wall behind him.

At 6 wks of age he started to have seizure type episodes when he was lying in my arms. All of a sudden:

§ body would go stiff with a slight pelvic tilt
§ head would shoot over to his shoulder
§ the arm on the side that his head tilted to would bend with the fist going upto his chin and the other arm would stiffen and go straight.
§ His eyes also rolled up to the corner
§ These episodes would only last for a few seconds, then he would start crying and then it would happen again for a few seconds. This would continue for a few minutes and then stop. Around half an hour later it would start up all over again. This went on for a few hours, then the seizure type episodes stopped but his head remained on his shoulder for at least 2 hours.

This all happened again when he was 10 wks old, this time I got him to the doctors in time to actually see the episodes as it happened. This time I noticed more too that when I moved him it seemed to set off the arms and eyes. Anyway this time the doctor sent us to another hospital straight away to see a specialist, who in turn diagnosed our son with Epilepsy. He was put on 'Phenobarbitone' medication which did nothing to stop his turns.

Our poor baby boy was subjected to a batch of tests. He had:

§ Blood tests
§ Ultrasound of Brain

All coming back 100% normal, except the EEG showed a few irregular brainwave patterns that weren't normal.

He continued to have turns around every 2 wks. Gradually they got less violent. By 6 months of age his episodes where just head tilts. The body and arms stiffening and the eyes rolling seemed to have stopped. The one new thing we noticed though, he was EXTREMELY irritable for about 5 days leading up to his head tilt. We also worked out the pattern that he seemed to have his episodes about 1 wk after being sick with a cold etc. But this was proven to be wrong. As he got older he would have and still does have an episode for no apparent reason.

At 8 months old he was taken off his anti epileptic medication as it was obviously not helping, and at 10 months old, after finally getting some video footage, our son was diagnosed with Benign Paroxysmal Torticollis of Infancy. He is now 20 months old (March 2008) and is still having regular episodes (at least once a month), but now they are lasting upto 7 days long.

Now he is walking we have noticed the effect of his head tilt even more, and so has he. When he is having his turns now he is falling over alot more than usual and he also throws himself down on the ground and will just lay there for 5-10 minutes before getting up again. He will do this quite often. After talking to his specialist, he thinks Phin is either suffering double vision from the head tilt or more possibly, he also has Benign Paroxysmal Vertigo.

Phin’s turns are now back to 1 week of episodes, 2 weeks ok, then 1 week episodes etc

He has regular visits with his specialist and neurologist and that is about all we can do for him at this stage.

Emina's Story

Emina’s Story

Emina is my third daughter. My eldest is 10 and my middle is 8, they do not have BPT.
Emina was born by normal delivery in August last year, she held her head up at birth (I will never know if this is linked to it or not)
We tried breast feeding her at first but she could never quite manage on one side. She had a lot of reflux and was diagnosed with dairy intolerance.
At around 6 weeks Emi woke in her bouncy chair with her head stuck to her shoulder, when I picked her up her eyes rolled in her head and she was in unbelievable discomfort. The emergency room said it was a stiff neck! She never became straight again. Her twisted posture meant she developed plagiocephaly, the GP referred her to a physio. Nobody wanted to listen that we felt that there was something wrong with our daughter than normal torticollis. The physio eventually saw her one day when she was having an episode and refused to treat her as she believed what she was seeing was neurological. She had never seen anything like it before. Emi was stuck to one side, her torso was bent like a banana, she was in obvious distress, her forehead bulges more, her eyes roll and she holds her head and pulls her ear. A couple of days later we saw our wonderful paediatrician. He knew instantly what was wrong with her.
Since the diagnosis Emi’s episodes have worsened but Dr Gallagher has kept in touch by letter and by phone. She has 3 to 4 grumbling headaches a week, she is irritable, sometimes almost aggressive, her reflux is worse and her head alternates in its tilt daily from left to right and she cannot sleep properly. Once every two weeks we have a full blown torticollis day where she wakes in her banana posture. We can write off the next 2 days. She is in immense pain and doesn’t want to be touched, she will then vomit and sleep and wake up with a straight head!
The paediatrician is trying her on new meds that we started today. I pondered about it deeply but decided that it was worth trying if it will just alleviate the grumbly days and it may even benefit the next baby born with BPT. She now takes a diuretic twice a day that apparently works on the calcium channels, I do not understand how. She also has a sedative to try and initiate sleep on the sleepless grumbly days as this seems the only way to break the cycle. Both have to be given rectal due to the reflux. We will wait to see if it works!!
I cannot see how I can return to work as I can spot an episode starting unlike the rest of the family, how could I knowingly put her into day care. Friends do not understand as they don’t see the bad days.
Emi is beautiful and perfect to us but although BPT is benign it is one heartbreaking disease!

Things haven’t been great recently. Our ‘lovely’ paediatrician has become disinterested and slightly callous. I have had to change doctors as he wouldn’t prescribe her meds as they were too expensive!!! We have changed health visitor and the new one is trying to move heaven and earth to help. After the medical professionals decided to stop physio despite limited neck movement to one side and plagiocephaly they are now asking why she doesn’t have it!!! Now we have a 9 month old baby that cannot bear it for her head to be touched or her neck and won’t lie on her front. Good luck to the next physio. I have been told by the paediatrician her head shape is awful, I asked him 3 weeks earlier when he said it was ok. One minute he wants to withdraw meds by the time we leave the room he has increased them. The health visitor has referred her to an optometrist, audiologist and dietician we have asked for 5 months yet the last health visitor, paediatrician etc didn’t do it. She now attends portage once a month. At first I didn’t feel like we fitted in, the paediatrician referred her but last week said she didn’t have special needs and she was just taking a place. Yet today she went and we did baby massage, whilst the torso and legs went fantastic, her head and neck remained untouchable. I couldn’t get her to lie on her front at all. Today we fitted in!! I have come to understand today that despite the negativity from Health Professionals and my concern that she didn’t seem to fit in either special needs portage or mainstream that actually she has a place in both. Mainstream fits her as mentally she is as bright as a button and far in front of her peers. Portage etc. Enables her to develop her problem areas, basically head and neck and allows all of us round her to appreciate her limitations but also see how she works around them and access the services she requires to help her.
I am not convinced that the meds work. Yes she hasn’t had any major episodes but I believe that is because they stopped the physio, we will see what happens tomorrow when physio resumes.
Helmets have been mentioned and even cosmetic surgery to move her ear so I am going to take the time to review everything again.
Interestingly when Emi went into the white room that has special fiber optic lights her head went over, we came out it went straight. The epileptic children did not do this. I told the paediatrician as I thought he may be interested, but no he wasn’t just said well I don’t know why it’s not important!! Good news is that her reflux is improving with solids.

Kaiya's Story

Our daughter Kaiya was born at 40 weeks 1 day gestation in the hospital and it was an uncomplicated birth. She was 7 lbs 9 ounces, 51 cm in length, and had a 34 cm head circumference. She is the second child in our family; her sister Mylie (we named her that long before Miley Cyrus surfaced thinking she would never meet another Mylie in her whole lifetime having such a unique name) was born in 2004 and is a healthy little girl. We knew something was wrong with Kaiya almost from the day she was born. She had strange choking and “blue” events in the hospital and for the next day after we brought her home. The nurses assured us it was just mucous but it was unlike the attempts at clearing the left over mucous from birth that my first daughter had when she was born.

The doctor who delivered Kaiya noticed immediately from birth that she favored turning her head to her left shoulder. She suggested we watch it and try to have her look at toys in the opposite direction and hold her to encourage her to look the opposite direction. We noticed it off and on to different degrees for the next two months. Some days she seemed to have tortipelvis in the opposite direction of her head tilt as well. She looked like a pained banana. We would always notice it upon waking in the morning. Some days it was very prominent other days she seemed absolutely normal. We could manipulate it out of that tilted position, but it was not comfortable for her. We saw two physiotherapists during this time who gave us some suggestions on how to treat “muscular torticollis”. We adhered to the program religiously and it appeared to have no correlation to the days when she was straight or tilted. At 3.5 months she was still unable to hold her head up on her own at all which concerned us so we asked our family doctor about it and he referred us to a paediatrician. During this time she was feeding and growing well. She has always had a voracious appetite. We would spend the next 3 months watching incidents happen with increasing frequency and severity while waiting to see specialists at BC Children’s Hospital in Vancouver British Columbia.

In addition to her tilts at 4 months she was still having around 14 frothy mucous stools each day which started having blood in them. The hospital diagnosed her with a cow’s milk protein allergy that came through my breast milk. I cut out all dairy and her stools normalized immediately. It was at this time that they thought she had “Sandifer’s Syndrome” that was causing the tilts. Sandifer’s Syndrome is severe acid reflux which forces the body to contort into strange positions to relieve the discomfort. So she was put on Ranitidine (zantac). It had no effect.

Like everyone else, were bounced around in the medical system waiting for tests and appointments with specialists until she was 6-7 months old. Until that point, we through our research, were beginning to suspect BPT but had not had it confirmed. She has had EEG’s, an MRI, a fentogram, x-rays, blood tests, genetic tests to date. She has seen neurology and ear nose and throat specialists at our local Children’s Hospital. In the future they will do a cold caloric test (on her ears) to learn more about her vertigo.

We have experienced two distinct types of tilting with Kaiya, but both types always have sometime type of triggering event (cold, teething etc.). They usually come on at the tail end of a sickness not the beginning. For the first 6 months of her life the longer uneventful tilts were more common. As she grew older nearly all the events became the short, eventful violent ones until as of more recently when she has started having some events with just vertigo.. It wasn’t until she started having the violent eventful ones that an absolute diagnosis of BPT could be made. She is now 17 months old and has about 25 events since she was born and has had numerous days of just vertigo. The two types of events we have seen with Kaiya are:

· Long duration (multiple days….up to 9 days long), but uneventful. She will wake up in the morning with a tilt (varying degree and direction and sometimes includes her pelvis in the opposite direction, and sometimes would include limited use of one of her arms) and it will stay for many days until she wakes up one day and it is just gone and she is fine. These are usually preceded by some grumpiness, but not always. Sleep is often disrupted and she appears to be in discomfort when they are happening.
· Short duration (under 12 hours) and eventful. She wakes up with a tilt that usually only involves her neck and not her trunk. When she first started having this type of short eventful tilt there would be a 6-8 hour lag from the onset of the tilt before the vomiting and “seizure like” cycles started but the last few months that lag has become much less usually with only 15-30 minutes’ notice. She often has balance loss. She is always extremely grumpy. She becomes quiet and calm and goes very pale. Her eyes often start rolling. She starts rhythmically vomiting. After she finishes vomiting she is hypotonic, unresponsive, and hesitant to move. If she does not go into a recovery sleep (deep) immediately she will lie with her eyes open staring at the wall and not move…she will be limp. She will repeat this pattern for the next 6-8 hours anywhere from 3-8 times each hour. Essentially “having checked out” for the entire duration. This is what we refer to as an “incident”. These are disturbing to watch because she appears to be having some sort of “seizure activity”, but the EEG’s determined no seizure activity is taking place in her brain when she is behaving this way. With each event she has the number of cycles we are having is increasing. The first few tilts of this nature she only had 4-6 vomiting cycles and the longest one she was up to 23. Dehydration is a concern as she does not eat or drink during the events, she will nurse a tiny bit but only if she is in a deep part of her recovery sleep. She is comforted to be held the whole time and held upright when she is vomiting. She starts to vomit blood after a while if she has had a lot of the cycles which is always alarming for any parent.

Today Kaiya is 17 months old and is a sweet, gentle, smart, lovely girl. She is very tall for her age and has gorgeous curly hair. She is developmentally normal and has a great sense of humour. She began walking a day after her 1st birthday. She might have done it on her birthday but she was in the hospital due to a bad event. She was vomiting copious amounts of blood- much more than usual which really scared us. She is still unable to tolerate cow’s milk protein. I am currently weaning her, but she does not enjoy goat’s milk at all.

We are optimistic that she might “outgrow” BPT. In the last 4 months her incidents are becoming further and further apart and she appears to be having vertigo more often in the place of a “full on event” that we would expect when she gets a cold. We are currently awaiting the results of her MRI and genetic tests.

I would like to say thank you to Richelle for putting this site together so that our families and other people who are touched by BPT have a place to connect. It can be scary especially at first and having other people to share your story with and compare with can help so much.

Collins Story - BPT gone after 2 1/2 years

Our son Collin was born Oct. 03. I had preeclampsia the last part of the pregnancy and had to deliver Collin at 36 weeks. His weight was 6 pounds, 14 ounces. Jaundice was the only complication that he suffered from. We noticed after birth that Collin's body was in a C shape all of the time and did not worry too much about it. He was very colicky and fussy. The first serious symptoms that I noticed were around the 6-8 week marker. One day while breast feeding, Collin's eyes rolled back in his head and his right arm quivered in a bent over the top of his head position. Then, he projectile vomitted and basically passed out. This was the first of many episodes to follow. He suffered the head tilt 2-3 weeks out of every month with the finally of migraine. Then he would be great for a week and the cycle would start over. He also would suffer a bright red looking rash on his cheeks a day before the final migraine would happen.

We talked very closely and frequently with our first pediatrician about everything that we were witnessing. He dismissed all of the symptoms except the constant spit up. He treated him for reflux- which did not work. I was advised to go on a dairy free diet, which I did for 6 weeks, still no change in the symptoms. When I would question this Dr. about the milestones that our child was not meeting, he would say "I'm not so concerned about your child being a little delayed on the milestones." This pediatrician also often would say, "Babies do some pretty strange things." When we would call into the office during the actual migraine part of an episode, we would be told that there was a bad flu bug going around. Every time, I would respond with, " Collin does not have a temperature, so how could he have the flu?" Two other Dr.s at this same practice dismissed all of the symptoms. I was also insulted by the Dr. about the flattening of Collin's head on one side. The physician informed me to turn him more frequently in his crib. I was allready doing that.

On our family picture day, (Collin was 5 1/2 mths old) another episode occured during the photo session. I told my husband that I was not going to stop looking for an answer until I recieved one. I had a constant nagging in my mind that something was wrong with my child. We went straight to the pediatricians office with our sick baby and met the 4th and final Dr. at this practice. She took one look at our child and said, "I don't know what is wrong with your child but something is very wrong and I will help you find the answer." She sent us to a neurologist and together they worked out a battery of tests which were: MRI, EEG and blood work looking for any abnormalities. Everything turned out fine, except for one of the blood tests for organic protein disorders was borderline. They ruled that to be normal. During the time of waiting for all of the results, our brilliant pediatrician discovered through her own research, BPT. She was not sure of the diagnosis and asked the neurologist to help confirm this after all of the other tests were clear.

The torticollis went away at aprox. 21/2 years. The daily headaches and migraines persisted however. Collin also had pretty delayed language skills, so we agreed to try cyproheptadine. Within a week, we had a happy talking child. He still had bouts of the headaches/ migraines occasionally. We saw a pattern developing, Low pressure weather patterns bring on the headaches and sudden severe barometric changes cause the migraines. We stopped giving the cypro medication and started pre-school last year. We had alot of behavior issues to deal with at school. As a result, we started Collin on a new medication named amitriptiline. I'm not sure how effective this medication is but it helps him sleep better at night. Severe vertigo also triggers Collin's migrains now along with the change in Barometric pressure. He suffered a migraine this last weekend from riding his battery powerd truck. There was no vomitting, but he lost the ability to walk on his own, my husband put him straight to bed and Collin slept for several hours.

I worry about our childs future in dealing with this condition. I hope that through this web sight that we can all help keep each other up to date on any late breaking medical news. I am also not convinced that this is a genetic condition. I suffer from occaisonal headaches and a pretty good case of motion sickness. But is that really the tag for my child having such a bizarre illness?

Thank You for reading our story. Best of luck to all of your families.

Laci's story

After an easy pregnancy, and uncomplicated labor and delivery, Laci was born on January 16, 2007 (at 39 weeks). She was small, 5 lbs 9 oz., but otherwise perfectly healthy. (I’m a petite mom at 4’11”) We didn’t notice anything “wrong” with her until the day of her two month vaccinations. (Looking back now, however, we think that even in those first few weeks she usually tilted her head (slightly) to one side or the other. In addition, she was “colicky” – and her pediatrician thought it might be reflux-related, so we had started her on “Axid” at 5 wks old. We didn’t think it was helping as she was still very fussy and very “spitty”). She awoke the night of her vaccinations with her head “stuck” in a tilted position toward her right shoulder. She was crying in pain and couldn’t seem to move her head. I called her pediatrician’s on-call nurse and was told to give her infant Tylenol. She then fell asleep, and by morning she was able to move again, and her head was normal. I had been leery of giving her the reflux medicine, and didn’t think it was helping the colic, so I stopped giving it the day after the “stuck” episode.

The following week we saw her pediatrician for extreme colicky behavior (crying all day, screaming 5-6 hours at night), and she prescribed Prilosec. In addition, we were told to give her the Axid again as well, and that the two medicines would overlap for a week or two while we waited for the Prilosec to start working. Less than a week after starting the Prilosec, Laci woke up crying with her head again “stuck” to the right. I again gave her Tylenol. Within a few hours, she was able to move her head, but she stayed tilted to the right. After examining her, the pediatrician prescribed physical therapy for muscular torticollis. We took x-rays of her head and neck to rule out any bony abnormalities. The films were normal. The following week, she suddenly tilted to the left. Despite the switch, we were instructed to begin physical therapy.

Laci was 3 months old when we started physical therapy. For the next three months, we did therapy, and she was mostly tilted left. Some weeks she was almost straight, and some weeks she was really tilted (head basically touching her shoulder, body curved like a “c” or banana.) After several weeks of no real progress with the physical therapy, Laci’s pediatrician recommended we see a neurologist and get an MRI. I did not want to put her under anesthesia at barely six months old. I went to see a neurosurgeon to tell me that I didn’t need to get an MRI. Laci happened to be practically straight at that appointment, and he agreed that no MRI was necessary. She appeared healthy, was developing normally and meeting milestones. We continued with the physical therapy. At least once during that time, I noted that her tilt switched to the right for a few days. Then it went back to the left. The physical therapist thought it was “unusual” and agreed with the pediatrician that we should get an MRI. I still wasn’t interested in anesthesia for my otherwise-healthy baby.

Throughout the time we were doing the physical therapy (3month old to 9 months old) we were continuing with the Prilosec, but Laci was still having bouts of fussiness (though not nearly as often or intense as when she was 3-4 months old). We tried increasing the medicine as she grew and gained weight – and my husband and I were always skeptical about the effectiveness of the prilosec “suspension” formula that was being shipped to us by a mail-order pharmacy. It was sometimes fizzy, sometimes flat.

At 8 months old, still doing therapy, still on prilosec, her left tilt gradually improved, she was then straight for a few days. She then woke stuck on the right. After Tylenol and a few hours she could again move, but was tilted to the right. She tilted right for a week, then developed a runny nose, and went straight for a few days. She then started to tilt to the left again (gradually over a few days). Then, on September 15, 2007 (at 9 months old), she woke early in the morning stuck on the left. I gave the usual Tylenol, and nursed her. This time, immediately after she nursed, she projectile vomited, then her eyes rolled back, and her whole body went limp in my arms. She was completely pale and non-responsive. We called 9 -1-1. I thought she was dying – couldn’t tell if she was breathing. While I was on the phone, and trying to get her to respond, she started crying. They sent paramedics to check her. They said her heart rate was fine. She still seemed “out of it” though, and her head was completely tilted to the left. Her eyes rolled back again while the paramedics were here. They still felt she was stable enough for my husband & I to transport her to the ER. She continued to be very lethargic, and her eyes again rolled back on the way to the hospital. Eyes again rolled back, when we were checking in – which got them to take us right away.

At the hospital, she was given blood and urine tests, a CT scan, and a spinal tap (complete $#@%@ nightmare). Every test came back absolutely normal. The CT scan showed that her sinuses were full – but we were told that was basically normal and not a problem. We were discharged with a diagnosis that the vomiting/fainting had probably been the “flu.” No explanation for the head tilt. Back at home, she was tilted but otherwise normal. Except that over the next two days she had screaming episodes (25 minutes of inconsolable screaming/crying, followed by sleep for 30 minutes, then woke screaming/crying for 15-20 more minutes.) The pediatrician sent us back to the hospital to test for intussusception. X-rays of her intestines – also came back normal.

Finally, still reluctantly, I was willing to consider the MRI. We saw a wonderful neurologist who understood my concerns about anesthesia (family history of adverse reaction) and recommended a “one bang” MRI – which didn’t require sedation, but would rule out a tumor or tell us whether we needed to go forward with a full MRI. The MRI came back normal. We also saw a gastroenterologist as we thought maybe the reflux was causing the tilt. She didn’t think so, but did switch us from prilosec to prevacid. We also saw a pediatric eye specialist. He initially thought Laci might have “strabismus” that was causing the tilt. Over the course of two more appointments however, he’s still not sure. Laci no longer has much tolerance for doctors, so he has not had much luck examining her to get precise eye measurements. While I’m certainly not an eye doctor, the diagnosis doesn’t make any sense to me. Neither my husband nor I have ever observed any problem with Laci’s eyes … plus the tilt switches sides … and comes and goes …

Laci is now 15 months old. The tilting continues. It tends to come in two to three week cycles. It is usually to the left. She’ll be tilted to the left for two to three weeks, then gradually straighten over a few days, then be straight for a week or two, then gradually tilt to the left again. She tends to be quieter/fussier when she goes from straight to tilted. I’ve also noticed that at least twice, she became straight when she had a runny nose. Also at least twice, she’s gone from straight to tilted when teething. I have no idea what’s significant and what’s coincidence. It’s been an absolute exercise in frustration trying to determine what could be the cause of the tilt.

Thankfully, we’ve not had any “stuck” episodes since she was 9 months old. She did vomit last month, but we think it might have actually been the stomach flu this time. She vomited three times in 24 hours, but didn’t have the eye-rolling or stuck head … she had a slight fever. It seemed like a stomach flu. She was slightly tilted the week before and a few days after the “flu” but then was straight for a week. She’s currently tilted left. Our neurologist’s last recommendation was for blood work while she’s tilted to see if anything shows up in her blood. I’ve not had it done yet – partly because I didn’t want to subject her to any more needles – partly because I keep hoping she’ll grow out of it. At 15 months and still tilted, we’re now probably going to do the blood work. She’s still also on the prevacid. (The neurologist did not think Laci has BPT.)

When she’s tilted, she doesn’t appear to be in pain. In general, she’s a very happy baby. She laughs easily and smiles lots. (Crooked-but-happy is how we often describe her). She’s not walking yet, but she’s close! She “cruises” furniture and practically runs with a push-cart toy. She’s the sweetest thing I’ve ever seen …

It’s so frustrating and scary to not know what we’re dealing with. I so appreciate this website (thank you Richelle!)(and Martin’s website too!)

A Request to BPT Families

My request is that you continue to keep us up to date on how you are doing with the progression of the BPT. I have still not heard back from anyone saying their child has "outgrown" the BPT or that they had a child with BPT but didn't know what it was until it was over. We would love to post this kind of story to give hope to those kids still struggling with BPT.

My e-mail is for those of you wanting to be anonymous or just wanting direct contact. I have an international calling plan and would be glad to talk live to anyone that is interested. Unfortunately, I only speak English and Spanish for those people in India and Europe that have contacted me.

We have heard from about 20 families with a child or children with head tilting and other symptoms of BPT. Our daughter, now 11 years old, experienced BPT for about 10 and a half years. She now only experiences the migraine/headaches, so we are comfortable saying her BPT is "cured". I still recall very clearly the agonizing and soul wrenching pain her mom and I felt not knowing what was "wrong" with our little girl. Thank goodness that is all behind us now, and that our son does not have this.

If this is your first time visiting our blog on BPT, please leave a comment or send an e-mail. We love to hear from everyone.

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: []
Sent: Monday, February 18, 2008 3:37 PM
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.