We only wish...
Today was Deacon's doctor appointment, and that was the diagnosis given. Infantile Spasms fall under the epilepsy umbrella, although unlike normal seizures, Infantile Spasms are connected with pretty severe developmental delays in most cases.
I found this article online that sums up what we are facing:
"Infantile spasms is one of the 'catastrophic childhood epilepsies' because of the difficulty in controlling seizures and the association with mental retardation. However, early recognition, a careful diagnostic evaluation, and proper treatment may allow some children to attain seizure control and to achieve a normal, or at least much improved, level of development. Thus, there is the opportunity to have an important impact in the lives of these unfortunate children and their families.
Infantile spasms is arguably the most interesting, but also the most enigmatic, of all the epilepsy syndromes. Infantile spasms was one of the first epilepsy syndromes described. In a letter to the editor of The Lancet in 1841, Dr. WJ West's description is as clear as any modern portrayal. He recounted that the patient had “bobbings” that “cause a complete heaving of the head forward towards his knees, and then immediately relaxing into the upright position … these bowings and relaxings would be repeated alternately at intervals of a few seconds, and repeated from 10 to 20 or more times at each attack, which attack would not continue more than 2 or 3 minutes; he sometimes has 2, 3 or more attacks in the day .” West also reported on the consequences of infantile spasms: marked developmental delay and mental retardation. Sadly, the patient who West was describing was his own son, and the letter was a request for help in treatment.
Spasms are easily missed, especially if they occur singly or in small or infrequent clusters. Other potential symptoms that parents might notice are a loss of muscle tone, loss of head control or reaching ability, loss of eye contact, inattention to sounds, lack of responsiveness, poor smiling, or decrease in alertness.
An etiologic diagnosis is very important because it can lead to initiation of a specific therapy that may markedly improve the long-term developmental outcome. In fact, some children with infantile spasms may ultimately lead normal lives, but only if they are diagnosed and treated correctly. Unlike treatment of other seizure types, there is only one goal for treatment of infantile spasms: the complete control of spasms. If spasms cannot be controlled, the child is unlikely to do well developmentally, and a 50% or 90% reduction does not provide for this possibility.
Infantile spasms is associated with a significant risk of mortality and morbidity. Riikonen has followed 214 infantile spasms patients for 20–35 years and has accumulated the best long-term follow-up studies of these patients (4, 24). In her series, nearly one third of the patients died during the follow-up period, many in the first 3 years of life. Eight of the 24 patients who died by age 3 died of complications of therapy with ACTH. (Those who treat large numbers of infantile spasm patients do not see such a high mortality rate, which largely is due to improved medical capabilities.) Of the 147 surviving patients, 25 (17%) had a favorable developmental outcome with an IQ of 85 or greater. Eleven others were in the dull–normal range, with an IQ of 68–84. Thus, of the 214 patients diagnosed with infantile spasms, 31% died, 45% were retarded, but 24% had a reasonably favorable outcome. The outcome is dependent on two major factors. First and foremost is the underlying etiology. Some etiologies will lead to death or mental retardation, whether or not the patient developed infantile spasms. However, children with cryptogenic (unexplained) infantile spasms or infantile spasms that is due to remediable etiologies, such as focal cortical dysplasia, may have a normal or near normal developmental outcome if seizures are controlled. Thus, the goal of therapy is to achieve control as soon as possible, especially for children who may have the potential for normal intellectual development."
So what now??
I think we are still trying to digest everything from today. The neurologist told us we are doing all the right things with getting his glasses, MRI, EEG, hearing test, and ECI. But we still are feeling helpless at this point with another game of wait-and-see...
Here are our plans for the upcoming weeks:
- He changed the medication from the Keppra (we were unhappy with, anyways) to Topamax, which we will start tonight.
- We scheduled another EEG for the same day as his vision specialist (and our dr. was glad that we chose her because she is a pediatric neuro opthamologist) on the Feb. 24th.
- We also have an appointment on the 28th with an epilepsy specialist to hopefully find the cause, if known. (Right now from what I have read, the only explainable causes for Infantile Spasms are loss of oxygen, head trauma, or a couple of diseases he doesn't appear to have.) The neurologist said that we would also discuss with them a possible medicine, ACTH, that is given through shots.
- Lots of online research!