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.