02-01-2003

OUR EXPERIENCE WITH ACTH
maia.jpg
My daughter Maia was 2 1/2 months old when she was diagnosed with Aicardi Syndrome. As for most, the infantile spasms are what brought us to the hospital. As for most, I thought she was only doing those "spastic" little movements that newborn babies do. As for most, I was soon to be awash in a sea of medical terminology and phrases which I little understood and was forced to make decisions about medications that I knew nothing about. Since Maia has been on ACTH a total of three times, I'd like to share with you whatever I now know, in hopes that it may help- whichever road you decide to take.

First of all I would like to mention the fact that Dr. Aicardi himself does not approve of the use of ACTH in treating infantile spasms in girls with AS. He feels that the majority of the girls are already in a very delicate balance as far as their immune systems are concerned, and that the risks outweigh the benefits in these cases, as ACTH rarely controls the infantile spasms permanently for girls with AS. Regardless of this fact, many neurologists still choose to suggest ACTH (cortisone) as the first therapy choice in controlling IS (infantile spasms) and so many of you may be up against this dilemma with little or no knowledge to help you along the way. The first thing you need to know is what ACTH is and why it can be dangerous in the case of an Aicardi girl. Cortisone is a hormone which exists naturally in our bodies and is used to deal with stressful situations. ( I'm no doctor- so please keep in mind that I'm only explaining this as simply as I can and as I have understood it myself) When we use it to overcome some illness or medical problem such as IS, the gland which produces it reads the levels in the blood and says "Gee, there sure is a lot of cortisone floating around in here- guess I can take some time off." and basically closes down production of the natural hormone. As careful as our doctors are, and as much as one would like to imitate nature, it is not possible to reproduce the exact level of a hormone in our system through controlling it manually- only our brain knows exactly how much needs to be produced at any given time to face the specific situation at hand. This means that with the body no longer producing cortisone naturally, and being totally reliant on a foreign source for the hormone, our immune systems are taking a bit of a beating. The patient is vulnerable to all sorts of infections (in Maia's case it was a urinary tract infection that kept us on our toes and her in and out of the doctor's for at least a year after we stopped) and in the case of an already weak immune system, is also open to all sorts of complications which these infections may lead to. So if you have reason to believe that your daughter is not all that healthy to begin with, these are some things to keep in mind.Many may go through the therapy and have no complications whatsoever, and hoping that this is the case if you choose to try ACTH, there are a few other things you might like to know.

You likely will start off on a dose of 50 IU's (international units) daily. I believe I was told that a therapeutic dose is considered to be from 40 -60 IU's. Most cases I hear of seem to start out at 50. This will be given in the form of an injection, and within the first day or two you may see some results- you may also see some changes. One of the first things that I noticed in Maia is that I was 'losing' her. Oh boy, did I cry. Where was my little baby? As each day went by she seemed to be going farther and farther away. No more smiles, no attention whatsoever- she seemed to be hidden behind some glassy-eyed mask. And the restlessness! She was out of her skin at times- worse and worse as the days went on. She started getting acne all over her face- and then I noticed her lips were sort of blistering. Turned out to be stomatitis- I think it's what we call thrush. We got to the point where she was unable to sleep at all at night. The only thing that would keep her even mildly content and not screaming at the top of her lungs was to walk her up and down the hospital corridors all night long. We even tried giving her a sedative-the doctors couldn't believe that not even that would calm her down. Oh, and she was bloating. Turning into a regular little blowfish. I still can't believe that she was so puffy when I look at photos from that time today. And I don't think it has ever completely gone away- my sweetie's cheeks are still pretty pinchable, even at 2 1/2 years old. And with the bloating came the high blood pressure- she was up to an unbelievable 180 one morning- we skipped her injection that day. This went on for 8 days the first time , then we started weaning her. Down to 40 IUs for a few days, then 30, then 30 every two days, etc. etc. By the time they released us ( I think when she was at 30 twice a week) she had calmed down a great deal- but all the rest remained. It took a while to start to see the changes back to the baby I had before we went into the hospital- but she did come back. Eventually. As did the spasms. We were spasm free for just short of three months- which was the period that they had given us as a danger zone for a possible relapse. So it was back to the hospital again. It took three tries to get Maia's spasms under control- and they seem to have been kept at bay only with the use of Vigabatrin. Since we took her off it though, fearing the eyesight complications, it seems as though her spasms are back- they started to show up again almost a year after we weaned her off the ACTH the last time. We're not 100%sure that they are spasms again, but the meds we're trying now would be the same regardless, so I don't see the sense of putting her through the trial of yet another EEG. We're just hoping that one of the meds we're trying will do the trick. Currently it's Topomax. We'll see...

Anyway, back to the cortisone. What I learned or simply stumbled across during this time and following others experiences on the list over the last year and a half:

#1- If your doctor decides to put your child on a prophylactic dose of antibiotics to protect her against infection while on ACTH, beware of the damage that it can do to the natural flora in her intestine. In Greece, everyone knows that you should eat yoghurt while on antibiotics- but in Canada, not everyone knows this. If your daughter is still not on solids, ask your doctor if she can take capsules of bacterial culture to help keep her intestines healthy.(available ay health food stores and possibly your pharmacy) It can't hurt- but certainly may prevent some serious complications if faced with a simple case of diarrhea or an intestinal virus. VERY IMPORTANT

#2 When admitted the third time, I decided there was no way we could go through the frustration of her raw nerves all over again and went to a pharmacist that specializes in the medicinal use of herbs. He suggested a mixture of camomile and linden tea. I started her on it immediately- and wow, did it help. In more ways than one. Firstly, she calmed down to a great extent. She was actually able to sleep. Secondly, as camomile is a mild diuretic, it took away her puffiness and she had NO problem with high blood pressure the whole time that we were in the third time- which meant we were able to keep her on the full dose for a few extra days and there was no having to use a diuretic pill to bring down her BP. Thirdly, I discovered that she was really thirsty. Since I was breast feeding Maia, I had tried to keep her meals to her regular schedule so that she wouldn't gain too much weight. But as I was also her only source of fluids, she was probably not getting enough to drink. The fluid retention that was brought on by the ACTH meant that she was even thirstier than normal. That's enough to make anyone scream and cry. Why hadn't the doctors told me any of this?

#3 When you come off cortisone-DO IT SLOW. All of the success with cortisone therapy is to wean slowly- in fact if you do it too quickly, you may cause a relapse to happen. This is due to the fact that if you cut back too quickly the body can't adjust to producing on it's own again and everything gets out of whack. (Yes, that's a medical term) It is very tempting to want to get her off it as soon as possible- it is not a pleasant experience. Don't rush- it may even be advisable to go slower than your doctor suggests. The last time she was in, we took her off over a period of three months- were down to only 5 UI's once a week at the end -but she was clean this time for over a year. I can't help thinking if we hadn't been in such a hurry the first two times that she may not have had the relapses.

#4 ACTH often causes diarrhea. Keep her as clean as you can- even if it means waking her to change her. And that means plenty of running water- no baby wipes allowed! Maia got her UTI the first time we were in the hospital and besides being hospitalized once for the infection itself, there is not enough room here to go into the details of the endless tests and antibiotics that we went through for over one year after. Little girls are much more susceptible under the best of conditions. You can't be too careful.

#5 The acne will only go away with time- but camomile compresses will help keep the inflammation down- and if you're breast feeding, there is nothing better than mother's milk to fight infection if she happens to scratch a pimple open.

#6 It's not going to be easy to get that extra weight off later- so if she does seem to want to eat everything in sight, try keeping things at a reasonable level now. Cortisone usually increases the appetite greatly- as a cancer victim friend of mine told me-"you feel like you have a burning hole in your stomach and the only way to fill it is to eat." Maia has had a hard time dealing with her appetite ever since then- I'm sure many of the things she has had to learn to do, especially walking, would have come much easier if only she were a few pounds lighter. She does like her food.

#7 Anything that seems suspicious to you while she's on ACTH, bring it up with your doctor- and don't be brushed off lightly. I had asked about Maia's swollen lips three times and it had to get to the point that she was no longer able to nurse (likely from the pain) that the doctors finally took me seriously and diagnosed it as stomatitis. I KNEW something was wrong from the beginning, but the doctors knew best...

All in all, we probably would have made the same decision over again if we had to today. If I had known some of this stuff then, though, many things would have been much different. As soon as we were able, we got Maia into an early intervention program and she has been doing physiotherapy, occupational therapy and speech therapy ever since. As the cortisone slowly wore off, her true abilities started to become apparent, so don't be discouraged in the beginning. The cortisone will leave her very 'floppy' for a while. Maia today is able to walk, is able to use a variety of single words and sounds, can feed herself and plays contentedly with many toys that are not so far behind her actual age. She participates in a wonderful daycare program for special kids where she works daily through her therapy program as well. Her physiotherapist says we can likely stop PT at some time in the near future, once she gets stairs and stuff like that under control. She's a warm and happy child with a smile that melt's ice- and as all the Aicardi girls have a way of doing, can work her way into anyones heart with the skill of an experienced cat burglar. I can only wish you'll one day be as proud of your little girl as I am of mine.
(from the listserv)
Because much of the talk this week seems to be centered around these two drugs [ACTH and vigabatrin], I just wanted to clarify a few things that were not very clear in my previous letter. Our doctor here at the Childrens Hospital in Athens is the head of the neurological department and we were very fortunate that he took over Maia's case personally when we were first admitted. He is a very knowledgeable man who worked for years in England before returning to his homeland. (Greece) Though he can be VERY difficult to communicate with, I have learned to respect his opinion and experience, and I must say that I still feel he suspected AS right from the very beginning with Maia though he sort of 'broke it to us gently' as the results of all the tests came out that first week or two in hospital. Since we were hospitalized 3 times for ACTH (you are not allowed to administer it at home here due to possible complications with side effects) I observed a fair number of patients (babies) and their treatment who were admitted with infantile spasms. His standard approach seems to be: 'start with Vigabatrin,increase to max quickly and if you don't get results in 5-6 days go to ACTH' I have discussed this approach with him many times and he asserts that you know whether Sabril will work within the first week at maximum dose(1250mg for Maia at 2 1/2 months of age).Though it did cut down drastically on Maia's spasms (she was down to only 2-3 sets a day from 20+) he does not want to wait around for weeks to see if it will eventually eradicate them entirely or not (what I wanted to do) but he does not remove it while administering the ACTH. He seems to let the Sabril take care of whatever is left over after the cortisone has done its job. So what I get from him is its not an either/or situation. His standard choice-and he sustains that it is the only effective med besides ACTH against IS- is Vigabatrin now. I realize this is only one doctor's opinion, and I hope this letter is not seen as endorsing it nor do I want to start a "well, my doctor says..." sort of debate among us. I am only mentioning all this because I realize that since Vigabatrin is not approved in the US that it may be hard to get info on it or doctors that are used to using it. I was spurred to write this because so often Vigabatrin and ACTH are brought up whenever we have a new baby with IS and the parents are swimming in a new sea of unfamiliar words and indecision. I wanted simply to underline the fact that this may not be a 'one or the other decision'. But it is definitely not an easy one and one that you must make balancing a lot of conflicting information. Try to trust your instincts and DO get a doctor you can talk to. It may be one of the most longstanding relationships you will have to tend to in your lives and it can help so much with the pain when it is right and make everything so much more difficult when it is wrong. (Like getting married all over again!) (o:

Jacqueline Michalakou