Max was born in November 1993. He was a healthy, beautiful little boy who reached his milestones (crawling, walking and talking) very quickly. We attributed this to Max having a brother one year older than himself to imitate. But then suddenly, when Max was 9 months old, he began to have Breathholding Spells. These spells would be brought on when he became upset, or had a sudden injury (like crawling into the coffee table). Max would let out a cry and then on the second cry, he would be unable to make any noise. He would arch his body back and look like he was experiencing a seizure. He'd turn blue and pass out. Max would remain unconscious for what seemed to us like an eternity, but was actually less than a minute. When he'd come to, he'd be irritable, disoriented and groggy.
Understandably frightened and concerned, we immediatiely brought Max to his pediatrician who ordered an EEG, or electroencephalograph, which is the recording of brainwave activity... The doctor also ordered a CAT Scan, or Computerized Axial Tomography, of Max's brain.
The results of both tests came back normal so we were referred to a pediatric neurologist who reviewed the results. She examined Max and asked us questions about his motor skills and development. At the conclusion of the examination by the neurologist she diagnosed Max as having Breathholding Blue and Breathholding Pallid Spells. We learned from her that "Blue Spells" are caused by emotion , fatigue, anger, sorrow or frustration, and after the seizure-like activity, the child turns blue. With the "Pallid Spells" a sudden injury or fear brings them on and the child turns pale rather than blue. She explained that a slight percent of children experience both kinds of spells and that most children outgrow them by four or five years of age. Further, she explained, these spells are strictly behavioral and they are not brought on by anything physical. She assured us that Max would not have any long lasting effects or damage from the spells. She emphasized that he could not have them in his sleep and that we should not worry as he would outgrow them.
Having seen the neurologist we felt somewhat better. It was still difficult to accept that there was nothing we could do for our Max, but we were assured he would be okay and would outgrow the spells. We learned to be on the lookout for signs of him going into a spell, so we'd be there to catch him before he could hurt himself.
Six months later the spells became much more frequent. He seemed to be having them daily, sometimes several times a day. We decided to get a second opinion. Again, we got the same diagnosis from the second neurologist. However, this neurologist added that the spells were involuntary on Max's part and it was the vagus nerve ( the nerve essential for speech, swallowing, breathing and other functions of the body) contracting which would not allow the passage of air. The second neurologist also agreed with the first that there was no treatment.
Armed with the knowledge of the connection with the vagus nerve, my husband and I began to hope that we could do something with Max's diet. Our thinking was that muscles contract and cause cramping when there is a lack of potassium in the diet. We began to give Max banana milkshakes. Remarkably, while his spells didn't go away entirely, they did lessen in frequency.
In addition to Max's Breathholding spells, he also had problems sleeping. From the time he was 1 year old, he had what is known as night terrors, not every night but frequently. He seldom slept through the night. He would wake up as much as 2 and 3 times a night and be very frightened. On occasion, my husband or I would sleep with him just to get him to go to sleep. He was a very restless sleeper. He would literally be bouncing all over the bed. We spoke with his physician about this and we were told that it is very common for toddlers to be restless sleepers and that some children never sleep through out the night. In retrospect, we believe there was a definite connection between his sleep disturbances and his Breathholding spells.
On Sunday, May 19, 1996 a week before he would have been two and a half years od, Max died in his sleep.
Our last day together was wonderful. It was a beautiful spring day. Max and his brother went with their dad to the park in the morning. In the afternoon we all went to a friends house for a barbecue. That night, we went about our usual routine. The boys took their baths, we had cookies and milk and read books before bed. At about eight o'clock, I turned out the lights and sat in the rocking chair for about fifteen minutes until the boys seemed on their way to sleep. Then I left their room.
My husband and I sat in the living room and watched a movie. When the movie was over, about nine forty-five, I went in to check on the boys. My three and a half year old was still in the same position that I had left him, but Max appeared to be sleeping at the foot of his bed. As I went to reposition him, I noticed something was terribly wrong. His body was limp, and as I put my ear to his back, I discovered he was not breathing! I yelled for my husband, who ran in and began CPR while I dialed 911…
Our grief was and still is immense, but at that time it was even more tragic for us as we had to wait for many weeks for the medical examiner's report. We agonized as to what could have happened to our little boy. Did he have a virus? Did he have an internal injury that we were not aware of? Had he aspirated? Had he suffocated? We never related his death at that time to his spells, as we had been told they weren't harmful to him. We were very concerned that whatever took the life of Max, would be back to claim his brother.
After about eight weeks, the medical examiner said her tests were inconclusive and that she believed Max died of "natural causes"…
This nurse knew of a doctor who did extensive work with Breathholding spells, sleep apnea and vagus nerve problems. The doctor, Dorothy Kelly, previously had worked at Mass General in Boston, but had since relocated to Houston Texas and now worked at the South West Sids Institute there.
I obtained Dr. Kelly's phone number and at the end of August was able to make contact with her and tell her our story. She listened attentively and then asked me several questions about Max's Breathholding spells. Dr. Kelly told me that a small percentage of children do not have "normal or classic" spells, and that Max's were NOT normal spells! She could tell this by the age he began having them (nine months) and the description I gave her of the spells. She explained that a child who cries continuously and has a temper tantrum to the point of Breathholding and loss of consciousness is considered to have normal spells. They are harmless spells. However, she went on, a child who turns blue and loses consciousness on the first or second cry and then ceases to breathe has abnormal spells. These spells are not behavioral in origin, but are caused by an actual birth defect! I asked Dr. Kelly if an autopsy would reveal such a birth defect and she replied only if the medical examiner knew exactly what kind of small marking to look for on the brainstem, and most medical examiners would not know what to look for…
I felt it was important to tell our story about Max, for it appears that the medical community as a whole believes that Breathholding Spells are harmless and therefore they have not been pursuing answers or treatments for this condition. Further, they have not been conducting adequate testing to identify a child who has abnormal spells. In speaking with one of the neurologists who initially saw Max, I learned that another little boy died last spring during a Breathholding spell while he was awake. There is nothing that will bring our little boys back. However, perhaps awareness on the part of parents, pediatricians and neurologists that the possibility of fatal consequences exists, may prevent the tragic deaths of other little ones.
Since this page first went on-line, we have learned of 3 other deaths attributed to Breath Holding Spells, and we believe there have been more that we have yet to uncover.