11 Months Old and 5 Months Seizure Free

11 months old now, Baby J. has defied all expectations. A recent review by her therapists determined that, at 10 months of age, J. was functioning at a roughly 7 month old level. When J. was 6 months and we first received her diagnosis, we estimate she was at a 2-3 month level, so this is truly amazing.

I have to say, though, I was hoping (and maybe kidding myself a little) that J was further along than 7 months, so I was surprised and disappointed to hear that. Regardless of what age level she’s functioning at, however, her progress is undeniable.

J. is so close to crawling, she’ll be making that milestone any day now. Essentially, though, we already have a mobile baby. She’s excellent at problem solving and uses pivoting and rolling to get anywhere she needs to go. She’s becoming more social all of the time. She smiles at us, and laughs at things we do. For a long time she would only laugh if we moved her arms or bounced her in a way that she liked, but recently she laughed because I was slapping my hands on her highchair tray, and then she copied me!

She is reaching much better, too. In the bath (the kitchen sink) she’ll hold onto the edge with her left arm for balance and use her right arm to reach behind her to the left to grab her duckie. When I first saw her do this I was so amazed. Not only was she reaching across her body, but she was doing a protective motion (holding on for balance) and twisting from the waist. She’s becoming way more aware of, and comfortable in, her body and I give her occupational and physical therapists all the credit for that. Things like this really make me think about our situation. I’ve never heard anybody with a baby exclaim that their child had learned to reach behind themselves for something--for most children, I imagine, this is just a natural progression and unremarkable, but for J it’s a huge accomplishment!

The biggest change in J by far, though, has been her vision. J reached for that duckie not only because she knew she wanted it, but because she could SEE it! She can figure out how to get to things across the room from her, now, because she can SEE them and set that goal for herself. She’s smiling and laughing with us because she can finally see our faces. And I cannot describe the joy that I feel every time J looks me in the eye. I have waited so long and so patiently for this. Her eye contact is still very brief, I think she can see well enough to know that she’s not seeing all the detail that’s there, which is uncomfortable for her, but her vision is improving exponentially week by week.

In early October J was officially diagnosed by a third pediatric ophthalmologist with Delayed Visual Maturation. This doctor did a preferential looking test with J (which no one else had) and was able to determine that the potential for vision is there, it’s just not developed. We, of course, were elated. The doctor suggested that J’s vision would likely normalize by age three. He also said that he wouldn’t even recommend that we do any special vision training or vision therapy with her, as her vision will be what it will be and nothing we do will expedite or improve its development. We decided, however, to keep her in vision therapy at the Helen Keller Services for the Blind in Brooklyn just because we are already established with them and we figure, even if it serves no benefit to her vision, it can’t hurt and it’s good for her overall physical and social development.

We are thrilled with J’s steady progress and count ourselves lucky. In all of our research about Infantile Spasms, we knew early on that the prognosis was poor and that her outcome could really go in any direction. It still could, we’re not out of the woods yet and it’ll be years before J’s deficits are completely known.

Mid-November we saw a geneticist at Cornell. T and J and I all had our blood drawn for testing. We signed a form to have any secondary results released to us, too. What that means is that any incidental results found simply due to the broad nature of the test will be recorded and reported to us. The testing is called whole exome sequencing and has the potential for finding (in J.) any genetic predisposition for Infantile Spasms or epilepsy (primary findings) as well as any treatable, preventable child-onset disease (such as cancer, among other things). In T and I, any adult-onset diseases, such as cancer, will be reported to us. I was on the fence about whether or not to get these secondary results. The thought of knowing J’s or our odds of getting cancer is pretty ominous, but the geneticist assured us that anything we couldn’t do anything about (like Huntington’s Disease) is not included in the findings.

We have an appointment scheduled for mid-February to discuss the results with the doctor, as entire-exome testing takes a few months to come back.

All other tests for J up to this point have been negative.

If J’s exome testing results are negative, that will be the end of our investigation into the cause of her IS and her case will be determined cryptogenic. Dr. Bluvstein at NYU--who we finally were able to see on Nov 3rd and is just wonderful--is still expecting to find something, though, because of J’s history of developmental delay which preceded the onset of her spasms.

The more we think about it, the more confident we are that J had been having seizures for a while before we were able to define them that way. She used to have a lot of ticks that we never even knew could be seizures (and even sometimes smiled about, thinking they were cute!). The idea of having seen spasms, but never thinking it could be something serious is so frustrating, but there’s no way we could’ve known. Infantile Spasms are so, so subtle. Now every time she does something strange and repetitive it sends me into a panic. T and I both Google everything to see if other, healthy babies her age do anything remotely similar, to put ourselves at ease. Most recently she’s started shaking her head which gives me a pang of anxiety every time I see it, but which I think is a normal, new movement for her. Her eyes don’t glass over when she does this and she never fusses during or after. Most often, she’s doing it when she’s tired. A few months ago she went through a phase of hitting herself in the head when she was tired, which a quick Internet search led me to believe was not an uncommon self-soothing mechanism in some babies (I’ve read similar things about the head-shaking), and which she eventually outgrew.

At the beginning of November she had her third overnight vEEG. Our epileptologist was not there (and now she can’t see us to discuss its results until January . . . we are planning to speed up our transition to Dr. Bluvstein who has been far more accessible to us), but the on-call neurologist told us that the vEEG was near normal. I was disappointed that it wasn’t completely normal, especially since her last one was “near normal,” too, but our epileptologist said it may never be. IS can leave a “scar” of sorts on the brain, resulting in perpetually, slightly abnormal EEG readings.

Doctor’s appointments and therapy sessions have become our new normal and we’re settling into it now. I wish we could’ve known back in July, when we heard J’s diagnosis, how things would be five months later--we might have felt a little better about things. J’s future remains unclear but we’re more hopeful, and less cautiously so, all of the time. For now, J’s doing wonderfully and we’re really enjoying her first holiday season!

2 Months Post Diagnosis

Today marks the 2 month anniversary of the day that Baby J. was diagnosed with Infantile Spasms.

This month’s highlights:

• J. learned to roll from belly to back
• J. laughed for the first time <3
• She is reaching for some brightly colored toys by sight
• She can hold her own bottle
• She has been seizure free for almost 2 months!
• Therapy is starting; so far we’ve seen our new speech, and physical therapists
• J. had to go on levocarnitine to treat low carnitine levels (still taking Topamax and B6)
• We visited Maine!
• J. had her first fever which landed us [nervous parents] in the ER (she was fine)

J. is doing great. She has her less spectacular days, still, but most days she's happy and appears to be thriving. She smiles a lot, and as mentioned above, she's laughing sometimes now, too. She has such a nerdy laugh! We love it.

Despite all of these positive developments (nevermind the fever thing), it’s been a very difficult month for me. I can’t speak for T., but I can tell you a little about what I’ve been going through (in other words, please allow me to confuse you while I complain about being half-assed parent, and defend myself at the same time).

I am thrilled that therapy is finally starting. When I think about how J. was diagnosed two months ago, though, it feels like we’re getting such a late start. We’ve only seen two therapist so far, two have not contacted us yet and our Early Intervention coordinator has not been able to locate an available vision therapist for us, which is the therapy we need the most.

J.’s last vEEG was a week ago. It was only an hour long, and our neurologist has yet to call us with the results. We have a meeting scheduled with her for next week, which we set up ourselves, to discuss our concerns with J.’s progress, the timing of her appointments and inconsistent communication with her doctors.

The neurologist did not inform us that the third vEEG would be so brief, or that she would not be there to talk to us, and J.’s been presenting with some old behaviors that make me worry she may still be having bouts of hypsarrhythmia that would not necessarily show up on such a short EEG. The monitor was in a separate room, so we don’t know what it looked like.

Lately, I feel like we’ve been too complacent, too patient. Like we have not hounded the doctor enough, for answers, or kept on top of what I like to call, “all this medical hooey.”

We forgot to call in J.’s Topamax refill and were on the phone for an hour or more trying to coerce a pharmacy miles away (the nearest that had Topamax in stock) into advancing us a few capsules to tide us over until her refill could be authorized by the doctor. J.’s still behind on her vaccinations because we kept forgetting to ask the neurologist if she can have them now. She hasn’t seen her pediatrician in two months (we now have an appointment set for after the neuro meeting next week). The neurologist recommended we see a geneticist to uncover the underlying cause of J.’s IS, but when her nurse finally (after a week of calling twice daily) gave us the name, she said we couldn’t schedule an appointment until the last genetic panel they ordered came back. We’re still waiting for those test results. The neuro also recommended we see a neuro-ophthalmologist to get a solid diagnosis for J.’s vision problems, but never gave us his name (even after many, many calls). At this point, I’m tired of calling and I’m waiting for our appointment, at which time I will arm myself with a few choice words I’ll immediately forget the moment I see her.

This makes us sound like irresponsible parents, but the truth is, all the phone calls, the chasing doctors, the appointments, the therapy sessions, the medications--organizing and scheduling all of this could be a full time job. Plus T. and I are each home with J. three or four days out of the week, most of them we’re alone with her while the other is working as we’re both employed full-time, and caring for her alone is a big job, too. Of course it’s excusable if we drop the ball once in a while, I know that, but as a mother of a special needs child, I feel like I can’t be dropping the ball. Every passing day that we don’t know the answer to an important question, or haven’t heard from one of her therapists, I feel like we’ve lost precious time we could’ve been building a better future for her, a better outcome. But the calls and endlessly being told we’ll be called back (we never are) is exhausting. We need days off from all of that to pretend we’re a normal family, or we’ll really go crazy.

On Monday I spent some time (at work) frantically Googling Infantile Spasms specialists in New York. I found only one, at NYU. She’s not available to meet until November and I’m kicking myself for waiting so long to get a second opinion. Isn’t that the first thing you do when faced with a rare diagnosis? But, back then, everything was happening so fast. Now that things have slowed to a crawl, I suddenly feel like we need a new doctor, who will treat J.’s case with more urgency and be more communicative. In reality, we will never find a doctor who is as focused on J. as we want. We’ll never find a doctor who feels as personally responsible for her wellbeing and developmental outcome as we do.

Probably because, no one really is responsible for that (her outcome, not her wellbeing, we are definitely responsible for that!), and, unlike me, the doctors already know that.

On some level I do know that we really are doing everything we can for her. We can’t make that damn doctor answer the phone. What’s two more weeks when she’s already two months behind on vaccines? An extra half-hour session with a therapist this week is not suddenly going to improve her outcome.  

T., and I, and her grandmother, work with her every single day, doing vision exercises, PT and OT ourselves. I have to keep reminding myself (and try to believe) that parents who love their child as much as we do could not fudge up so badly as to destroy her future. It just can’t be possible. If we can’t have faith in ourselves, and in the professionals handling our case, then who can we have faith in?

That said, no one will advocate for our child if we don’t, so it is vitally important to keep on top of things as best as we’re able to, and we’re doing that, the best that two loving, devoted, employed, eternally exhausted parents can. And that will just have to do.

Websites and Resources

When you have a sick child, it is vitally important to do two things: 1.) Educate yourself, and 2.) Find support.
Read as much as you can about the diagnosis, the treatment, the prognosis--but make sure you are utilizing reputable sources. Going onto message boards and reading people's personal experiences can be both useful and damaging. It's good to hear first-hand accounts of what it's like to have a child with Infantile Spasms, but many children have IS because of other very severe problems (such as brain injury or Down Syndrome), which may or may not be relevant to your own child. In these cases, the prognosis is likely to be worst-case. Getting your hopes up by reading only positive-outcome stories can be dangerous, too. It's best to maintain a well-rounded idea of what's possible and what's probable by reading not only personal experiences, but also professional websites, such as the Epilepsy Foundation, or the Infantile Spasms Project.
Support is imperative. Your family and friends can offer you a lot of great, loving support, but they will likely never fully understand what you're going through as a parent (unless they are very close to you and your child, or have been through something similar). You definitely need the support of loved ones, but you also need to be in touch with services that can benefit you and your child, and other parents who have experienced what you're going through. Many organizations have a community section on their website where you can get communicate with other parents of children with Infantile Spasms. This is also another example of how reading other parents' personal experience (blogs and message boards) can be beneficial, but again, keep in mind that every child and situation is unique, which means every outcome varies greatly).
Here I've compiled some of the best resources for education and support that I have come across so far (please feel free to link to more in the comments!):

Resources for Infantile Spasms

The Epilepsy Foundation

http://www.epilepsy.com/

The Child Neurology Foundation

http://www.childneurologyfoundation.org/

The Infantile Spasms Project

This resource has great information about what the disease entails. On this website you'll find videos of other children experiencing spasms, which is what really helped us to know that J.'s strange little jerks were not to be ignored.

http://infantilespasmsproject.org/

The Infantile Spasms Community

Connect with other parents enduring the same diagnosis.

http://www.infantilespasms.com/forum/

Early Intervention Program (NY)

Information about Early Intervention for New York residents. (EI is free in New York!)

https://www.health.ny.gov/community/infants_children/early_intervention/

Center for Parent Information and Resources

Learn about Early Intervention, who qualifies, what services entail and how to find Early Intervention services in your area.

http://www.parentcenterhub.org/repository/ei-overview/

http://www.parentcenterhub.org/repository/services-ei/

Other Infantile Spasms blogs

Read about other firsthand experiences.

http://bradleyboyandhisfight.blogspot.com/

http://spazfamily.blogspot.com/p/infantile-spasms.html

http://thatdadblog.com/infantile-spasms/

http://www.everydayfamily.com/blog/understanding-infantile-spasms-lucis-story/

Resources for Cerebral Visual Impairment

The Cerebral Visual Impairment Society

http://www.cvisociety.org.uk/

Little Bear Sees

This blog has great tips on activities to do with CVI children, and how to help their brains learn to see.

http://littlebearsees.org/what-is-cvi/

Blind Children's Resource Center

http://www.blindchildren.org/

National Association of Parents of Children with Visual Impairments

http://www.lighthouseguild.org/programs-services/education/napvi/

American Council of the Blind

http://acb.org/

Smart Toys
Read about toys that can benefit the development of a visually impaired child.
http://www.smart-toys.info/single-post/2016/06/01/Tips-for-helping-partially-sighted-infants-see

1 Month Post Diagnosis

A diagnosis of this magnitude creates a rift in your timeline, splitting your life into Pre-Diagnosis and Post-Diagnosis.

Pre-Diagnosis we were very anxious about J.’s health, all of the time. We knew something was up, but couldn’t put a finger on it.

Post-Diagnosis, life is, if you can believe it, in some ways easier. Would we pay a million dollars to have this all be a bad dream? Of course we would, in a heartbeat! But that’s not an option, obviously, and at least we have answers, now. We have a plan, we have medication, we have therapy.

Right now we’re actually in intermission. Another diagnosis--another landmark event--is coming. I don’t know what that will bring, but right now we are doing okay and that gives me confidence that we’ll really be okay no matter what.

It’s been one month to the day since J. was diagnosed with Infantile Spasms. She’s 7 months old now and doing great, so far.

When J. was in the hospital I was really torn about going home. On the one hand, I was tired of living in the noisy hospital. It was hard to sleep because the bed was uncomfortable, and we were sharing a room, and we surrounded by other sick children which was so heart wrenching. And J. was constantly being poked and prodded and woken up.

On the other hand, though, I didn’t want to bring J. home. As long as we were in the hospital our real lives were on pause, which made her illness feel temporary. I didn’t want to take her home and have her be my sick baby.

It turns out, I don’t think of her that way, maybe because she’s doing so well outwardly she doesn’t seem sick at all. The first week home she learned to roll to one side onto her belly. By the end of the third week she was holding her own bottle and she cut her third tooth. She talks a lot and she smiles a lot. She’s really close to sitting up on her own. She’s now been seizure-free for almost 4 weeks! She is such a trooper and I am so grateful for that.

Watching a baby go through what J. has been through (the vEEG’s, anesthesia for the MRI, the blood draws, the shots, the glucose tests--the list goes on!), it’s painful for us, but J. hardly ever complains. By the end, she didn’t even cry when we gave her the ACTH injections! I’m in awe of her strength and it only makes me want to be stronger, too.

It has changed me as a mother. My sister told me once that we become the mothers our children need us to be, and that’s absolutely true. I feel sad, sometimes, for J. (and of course also for us), but I have so much love for her. Even more than before, I think. And so much patience. I want to do everything I possibly can for her. I’m 100% dedicated to giving her every opportunity any normal, milestone-hitting, fully-sighted child would have.

Her dad and I, we have our good days and our bad days, of course. I think (though I can’t really speak for him) hearing the diagnosis was harder for T., whereas I’m having trouble dealing with being home with J. and seeing her affected by her condition and her medications.

We are both more or less accepting of it now. We’re focused on what we have to do to support our daughter. I try not to think too far ahead. Infantile Spasms is a tricky thing in particular because you don’t know what the prognosis is until the child is older. We have no way of predicting what kinds of delays or challenges J. will have in the future. Living with Infantile Spasms is like standing in a thick fog. You can only see an arm’s length ahead, so thinking of what lies beyond is too overwhelming. This has been a tough point for me. I’m a planner who hates surprises. Now, though, I have to live in the moment. I deal with what’s immediately in front of me and leave the future for the future.

Right now, what’s immediately in front of me is not all terrible. J. can’t be in daycare, so we get to spend more time with her which is wonderful, especially now that she’s awake more than ever and so happy all the time. We are finally getting to see her catch up with her milestones, and we are eligible for great services that will provide her with great therapists. And we are just so proud of her. She is amazing and so, so special.

It’s easy to think that you couldn’t deal with something like this if you’ve never had to, but once you have no choice it just becomes what you do.

The Follow-up vEEG

Earlier this week was J.’s second vEEG (video electroencephalograph). We were placed in the PICU overnight and she was hooked up to all the wires all over again (I was bummed we didn’t get to stay in the same wing of the hospital--we really miss our nurses!). The hope was that there would be no sign of hypsarrhythmia.

Hypsarrhythmia is pretty unique to Infantile Spasms, though it can occur in a few other conditions. It is perhaps the most important key to diagnosing Infantile Spasms, as the spasms themselves can be hard to detect. If you think your child is having spasms, consult with your pediatrician immediately about whether an EEG should be ordered. When J. was hooked up to the EEG the first time, her hypsarrhythmia was immediately apparent. Even if we’d never seen an EEG before (which we had in our research) it would have been obvious that hers was a mess. Hypsarrhythmia can be described as “chaotic brain waves,” and they absolutely look chaotic. The Acthar website shows you the difference between a normal pediatric EEG and an EEG of a child with hypsarrhythmia.

Leading up to this appointment, I was sick with nerves. Our first week home with J. (her second week on the ACTH) was amazing. She tried to roll over for the first time ever and in just a couple of days she was able to roll to the right from back to belly. She was so happy, and smiley, and babbling non-stop. She was a completely different baby. It was crystal clear she felt a million times better and we were thrilled. She didn’t even cry when we gave her the ACTH injections.

After that week, however, as time progressed, she seemed to be doing a little less amazing. A zillion times better than pre-diagnosis . . . but she gained some more weight and kind of stopped rolling over, and wasn’t holding her head up as reliably. She wasn’t babbling as much. She wasn’t smiling as much.

On the other hand, she was gaining ground on sitting up by herself (still not quite there) and she has learned how to hold her own bottle by herself, which she only started trying to do since we brought her home.

Despite the progress, I was really concerned that the treatment wasn’t working. I had really noticed a difference in her behavior when we tapered her dose from everyday to every other day, and then to half a dose (.2 mL) every other day. I thought maybe the taper schedule was too dramatic. It's difficult to know when you're seeing something concerning, though, versus when you're just hyper aware of everything your child is or is not doing.

I should add here that some of the side effects of the ACTH that we were told to expect were finally starting show. As I mentioned before, J. has put on some weight (just a little, and since she’s such a good gainer it’s hard to say if she would have anyway), she is having a LOT of trouble sleeping--some days she only takes two 30 minute naps around 10am and 4pm, then goes to bed around 9pm and sleeps only until 5am or 6am. J. was always an excellent sleeper before, so this is really terrible for her and it’s obvious she’s tired. Plus, another side effect we hadn’t really seen is grouchiness. Pre-diagnosis J. was in a bad mood or asleep about 22 or 23 hours of the day (not an exaggeration). So if she is irritable now, and she can be, it doesn’t phase us. She’s still 400% better than before, so it seems like nothing, but if she’s in a bad mood because of the meds, that could explain why she’s not doing certain things. She may not have the patience to try.

So, anyway, back to the vEEG. I had planned on not looking at the vEEG at all, being that I was so nervous about it. Our first stay in the hospital, the screen was right there between her crib and the couch, so it was impossible not to look at it. It’s bright, white glow pried at our eyes at all hours of the day. Naturally, when I realized that the screen this time was on the back of a column of power outlets, I thought I’d won the lottery.

But the tech who came to attach J.’s leads needed my help finding a good position for the crib in relation to the camera, so she asked me to watch the screen. I couldn’t help but glance at the EEG, too. I had already steeled myself to defend against the debilitating disappointment that threatened when I saw exactly what I’d expected which was, while J.’s EEG looked inarguably much better, it was still nowhere near normal. At least, that’s what I thought. All I could do at that point was tell myself: “You are not an EEG tech, nor are you a neurologist, so you basically have no idea what you’re looking at.”

Which is true. Still, I braced for bad news from the neuro team when they visited the next morning. Imagine my surprise when our previously very grave epileptologist offered us the first smile of hers we’d ever seen. She said that J.’s scan looked great and that she had no spasms overnight (though she did have an episode of eye-rubbing that corresponded with spikes).

We’ve grown accustomed to receiving bad news and good news is now foreign to us. I pressed her. I asked about the spikes, and pointed out that maybe she’s not having spasms, but her EEG isn’t "normal." And what about all the regressions?

The neurologist said that if “normal” is 100%, then J. is at 90%. J.’s regressions are likely a side effect of the ACTH and she’d be concerned only if that pattern continued after the ACTH injections stopped.

Wow. 90 percent. 90% normal.

She also said (after I asked) that, yes, this kind of response to the medication after only 4 weeks is a very good sign.

Finally, a little luck.

You may be picturing us jumping up and down and celebrating. I doubt we even smiled. T. and I are “cautiously encouraged.” We don’t dare get too excited. We still don’t know what is causing J.’s Infantile Spasms and while they are now controlled (at least for the time being), another diagnosis is looming and we have no way of knowing how severe it will be. So far, J. has beat the odds and that excites us--don’t get me wrong--but the higher you get, the further to fall. We’ll celebrate after we have all the facts, if it’s appropriate to do so.

The neuro team told us that they feel they are close to uncovering the cause of J.’s IS which is both good and not good. No discernible cause would be better (cryptogenic IS), of course, though unsatisfying. A diagnosis will be more satisfying, but could go either way as far as being good news or bad news. They believe it’s metabolic, based on some abnormal levels of something-or-others (they weren’t that specific because they want to have concrete information to give us). One thing we know, is that J.’s carnitine levels are low. I made the mistake of Googling metabolic disorders that are associated with that, but after reading some terrifying stuff, I have decided to wait for the blood test results to come back before conducting more research.

So, today is J.’s last dose of ACTH. Hooray! Starting tomorrow, she’ll be on Topamax until she’s 8-10 months old, to keep her seizure free. Topamax has it’s own slew of terrible possible side effects but most of them are relatively uncommon. I’ll write more about Topomax in a later post.

Next time I’ll talk a little more about how J. (and T. and I) are doing 1 month post-diagnosis.

In the meantime, as always, if you have questions please e-mail me, or leave a comment!

Treatment for Infantile Spasms

When Baby J. was diagnosed with Infantile Spasms a few weeks ago, the doctors were adamant that treatment begin immediately. We knew a little about the drug ACTH because we had read about it before even bringing J. to the hospital, but we didn’t know much about the supporting drugs she would need to be on, as well.

I hated that we had to start her on treatment so quickly because I didn’t have time to research our options, or the side effects of the drugs. I still haven’t really researched alternative treatments, mostly because I’m afraid that I’ll find something that indicates we should never have given such a powerful steroid to our daughter because there are less dangerous treatment options out there. We’re already halfway through her course of ACTH, so why make ourselves feel bad about it, now?

On the other hand, however, I believe in trusting your doctors (until you have a real reason not to) and so far J. has done very well on her medications and they seem to be working (our next EEG will tell us how well).

So far, J. has been placed on four different medications and is also undergoing therapy for her delays. This is what our schedule for the last two weeks has looked like:

7/15	Admitted to the hospital; EEG	7/30	E.I. Physical Therapist assessment
7/16	Diagnosed with IS; began meds	8/1	Follow-up with the pediatrician
7/18	Removed EEG leads; MRI	8/2	E.I. Vision Therapist assessment
7/22	Meds arrived; discharged	8/3	E.I. Developmental Specialist assessment
7/23	Visiting Nurse (introduction)	8/4	Visiting Nurse (weight, blood sugar, BP)
7/26	Early Intervention assessment	8/4	E.I. Occupational Therapist assessment
7/27	Visiting Nurse (weight, blood sugar, BP)	8/8	E.I. Speech/Feeding Specialist assessment

As you can see, post-diagnosis is a very busy time. It’s good, though. Each appointment gives us something to look forward to and it makes us feel better to have all of these professionals checking in on J.

The two branches of treatment J. is receiving at this time are medication and therapy.

I mentioned above that J. is currently on 4 different medications. They are: ACTH (Acthar), leucovorin (folinic acid), B-6, and ranitidine (Zantac).

ACTH

The worst, by far, is the ACTH. The other three drugs are prescribed to support a baby’s health while they are on ACTH. (The Wikipedia page is very informational.)

ACTH stands for Adrenocorticotropic hormone. It’s a corticosteroid this is used to treat, in addition to Infantile Spasms, pituitary disorders, Addison’s, Cushing’s, and some kinds of cancer.

The side effects can be severe. The top three things to be careful of are high blood pressure, high blood sugar levels, and infection. Our visiting nurse comes twice a week (unless we are seeing a doctor) to monitor J.’s blood pressure and blood sugar.

ACTH suppresses the immune system is why infection is major concern. It’s easily the scariest side effect, in my opinion. We decided (and our neurologist agreed it was wise) to pull J. out of daycare for the duration of her treatment. We haven’t decided yet if we’ll put her back in when she is done with the ACTH, but we felt that it was important to keep her away from other children. Especially because she also cannot receive her vaccinations until her treatment is over. Since she was diagnosed just after she turned 6 months, the last series of vaccines she received were her 4 month shots, so, now 7 months, she is quite behind.

ACTH is also very difficult to get. As we were told, ACTH is made by one company and distributed by one pharmacy in this country. We ended up having to have it overnighted to our house, and were then required to bring it in to the hospital before we could be discharged. The whole process took about five days. If you are unfortunate enough to not have insurance at the time your child needs this medication, be sure to inquire about special programs the manufacturer may have to help you receive the drug for free. ACTH is prohibitively expensive without the help of insurance (we’re talking in the range of $30k-$50k per vial--we were prescribed 2 vials). We were also told that insurance companies will sometimes refuse to cover ACTH due to exorbitant cost, but those situations are rare. We haven’t received our bill yet, but our prescription was covered. Most insurances will comply because ACTH is virtually the only drug used to treat Infantile Spasms (unless the underlying cause is discovered, for instance, if your child has Tuberous Sclerosis, vigabatrin (Sabril) may be used, instead).

Prepare yourself for learning how to administer ACTH to your child at home, it’s given by injection. Your nurses will teach you to give the shot and when you receive the drug, you’ll also receive syringes, needles and sharps container. Ask your nurse to find out what to do with the sharps container once it’s full.

We are on a taper schedule with ACTH. The first week we were giving her 32 units (.4ml) twice daily. The second week was 32 units once daily, third week 32 units once every other day and fourth week is 16 units (.2ml) every other day. We will be on the fourth week when we return for the second EEG, so we are hopeful that J. can come off the ACTH after that week, but they told us that she may be on it for 6-12 weeks.

Leucovorin

When you Google leucovorin, don’t panic when you see it listed as a drug used to support patients going through chemotherapy. During ACTH treatment, leucovorin is used to protect intestinal tract from a GI bleed.

This comes in pill form, which we crush up with the B-6, mix with pureed prunes and spoon feed.

Leucovorin is 30mg once a day.

B-6

B-6 is prescribed for Infantile Spasms because, in some cases, seizures can be caused by a B-6 deficiency. Our doctors told us that sometimes they will administer B-6 first to see if it has an ameliorating effect on the spasms before going to ACTH, but in our case, they prescribed it to J. in addition to the other drugs.

This is also in pill form, which we give by crushing and adding to prunes.

In the hospital we tried mixing both the Leucovorin and the B-6 with apple juice and giving that by syringe (it would clog a bottle nipple) but J. really hates being force-fed with a syringe, and sometimes that would get clogged, too. We’ve had far better luck giving it to her mixed with prunes, which she already loves, and I add just a touch of pure maple syrup to cut any bitterness from the pills.

B-6 is 300mg once a day.

Ranitidine

Ranitidine (Zantac) is a drug used to treat reflux. This is also to protect J.’s digestive tract. GI bleed is another side effect of the ACTH to look out for, but the leucovorin and ranitidine are employed to combat that risk.

It comes in a minty syrup which we administer with a syringe.

Ranitidine is 3ml once a day.

Therapy

J’s therapy has not yet started. A diagnosis of Infantile Spasms makes J. automatically eligible for Early Intervention services in New York, but she is currently being evaluated for which kinds of therapy she’ll need. This whole process (unfortunately) takes upwards of 30 days. Then we’ll be able to review the report the therapists have written, and approve it, or ask for a second assessment. Once the report is submitted, we’ll have a meeting with our EI coordinator who will go over the whole thing with us.

Once J. is assigned therapists and seeing them regularly, I’ll post more about this part of treatment.