Two-and-a-half years post diagnosis

Wow! I can't believe it has already been over a year since my last post. Some have been reaching out to me for an update on our little J (who is not so little, by the way, she's just about to turn 3!). Here are some highlights from 2018:

February - J got AFOs (ankle and foot orthotics) to help stabilize her ankles for walking.

April - J took her LAST dose of topiramate! She has been seizure free for nearly two-and-a-half years now!

June - J finally said her second word: "up."

May - We were asked to pull J out of childcare. This was a horrible low point for us. Her childcare center had at first been so open to having J join their classroom--and I was very forthcoming about her needs and challenges. In the beginning, we felt we had great communication and that everyone was well supported. J's therapists were all doing services in the classroom and offered themselves up as resources to her teachers. Over time, however, it became apparent that her teachers were not willing to make any accommodations for her. They put her walker in a closet without consulting the PT. They removed red tape from step-stools--a visual aid recommended by her TVI to help J see where the steps were. During her time in childcare, she was unable to nap so they would strap her into a Rifton chair for the duration of nap time, sometimes without any toys or attention to occupy her. We cut down to part-time and pulled her from the program as quickly as we could. I genuinely believe that J was discriminated against in her childcare center. I once went in to pick her up and she was sitting in a corner alone eating a book, unsupervised. Her teachers would frequently complain to us about behaviors that were unrelated to her challenges and were, in fact, very normal toddler behaviors (like mouthing and not napping, peeing during diaper changes--pretty ridiculous stuff!). One teacher actually accused J of purposely peeing on her during diaper changes. We were happy to be rid of this place, but heartbroken that J had to leave all her friends.

July - J got glasses! They are green, flexible and super cute. We had a lot of trouble keeping them on her for the first week, but after that, it clicked that she could see better with them on. She still takes them off sometimes, usually when she's tired, but she also asks for them and is starting to learn how to put them on herself.

July - J got ear tubes, an immense relief after suffering 10 ear infections and 10 rounds of antibiotics in just five months.  A word of warning: if your kid goes through too many rounds of antibiotics, they have to start giving a very painful shot, one in each leg, usually a few days in a row. It's really horrible. Happily, she's been perfectly healthy ever since, barely even a cold in the last six months.

August - J LEARNED TO WALK! I cannot express how overjoyed we were when J finally began taking steps on her own. It honestly felt like a miracle had occurred. Her physical therapist had just talked to us about how J could be four- or five-years-old before she really learned to walk on her own, but a week or two later, she just started walking! Considering she now weighs in at 41 lbs, it's been a huge relief physically, too. I was praying for the day she could just walk to the car on her own. Now she does every single day! It's obvious she's so psyched about being able to walk, too. She spends much of her day just walking back and forth across our living room. Since she's still a little uncomfortable walking outdoors on uneven ground, I sometimes take her to the mall so she can walk wherever she wants, for as long as she wants.

October - J transitioned from crib to toddler bed. Believe you me, we were so set for this to be a month-long ordeal of laboriously training her to stay in the bed. At the time, J still got a bottle of water to drink in her bed, and we also play Daniel Tiger on a laptop (just audio) at a very low volume that she can only hear if she's quiet and still. Both of these habits facilitated the switch and we've even been able to wean J of her bottle completely (well . . . she bit the nipple off the last one we had, and we swore not to buy any more after that!). She really transitioned flawlessly. She just got that her big girl bed was where she slept. She still falls asleep on the floor on very rare occasions, and she has more or less given up her nap (two-and-a-half hours every day down to nothing, just like that), but most of the time she simply lies in bed listening to Daniel Tiger until she falls asleep. We are way impressed! She sleeps all the way through the night, usually between 11 and 12 hours.

Over the last year, J's receptive language skills have grown like crazy! Just today I asked her if she wanted to play with playdough, and she went and got it from where its kept without any further instruction. She is learning things really quickly now! She has not picked up any new words, at least not as clearly as "more" and "up." We understand some of what she says to be approximations of words, like book is "buh," grampa is "bampa," etc. Most of her words start with "b." She is trying to imitate lots of words, though, and she sometimes busts out with highly complex stuff like, "strawberry," "thermometer," "cucumber," "marker." She can do this if she's not thinking about it, but she can't replicate it. Motor planning is still very challenging for her.

In December we had her first IEP meeting and she'll be turning three in just over a week and will transition from early intervention to school services, though she won't be able to start preschool until the fall.

We are very happy with the way things are going. We no longer feel like we have to temper our expectations, or that we are underestimating her. We've trained ourselves to let her be who she is and to not worry too much about where she's going to end up. We certainly still think about it but in a far more abstract way. We're able to wrap our minds around her challenges now, without setting limits for her. I think that's the hardest part about coming to terms with raising a child with special needs, and it's an ongoing process for us, always, but we're getting better!

Progress for J! (and 1 year seizure free!!)

When last I posted, I wrote that J was on a developmental plateau. Since then, however, she has made unbelievable progress!

On July 22nd we celebrated 1 year seizure free! She has remained seizure free since then and had another overnight EEG at the end of July. The doctors first described the results as showing an “irritable brain,” meaning that J was at risk for seizure, even though she hasn’t had any. However, a couple months after her EEG we had a visit with the neurologist, just to check in, and she said that, upon second review, she felt that the EEG was actually relatively good. J will likely never have a 100% normal EEG, but the neuro does not think J is at risk for seizure right now, which is a positive thing for us, because our goal in the next six months is to wean J off her Topiramate. Because she has grown quite a bit since her last dosage increase, she’s likely no longer on a therapeutic dose (she takes 30 mg in the morning and 45 mg at night, and she is now 30 lbs). We will keep her on this dosage (barring any issues) until our follow-up with neurology in six months, at which time we hope to start getting her off of it.

J’s getting a lot closer to walking, though she is still yet to stand and balance without holding on to anything. I suspect that standing and walking are going to come to her at roughly the same time. Her balance issues, I think, stem from tightness in her hips and knees. She doesn’t straighten them when she stands, but we work on stretching her hamstrings every day (it makes her giggle!). If we can resolve that spasticity in her legs, she’ll be moving along in no time. She’s to the point now where she much prefers to be upright, she has the determination.

J’s communication skills have jumped significantly. At the start of the summer, she didn’t respond to her name and didn’t seem to understand anything we said to her. Now, she definitely knows her name (plus a few of her many nicknames). She understands some of the things we say to her, like “don’t touch” (which works about as often as it does for any toddler), “hungry,” “milk,” “snack,” “clap your hands,” and, “can you say . . . ?” And she can say, “more.” “More” is her first word. I can’t tell you how amazed I am that she knows a word. I never thought she’d be speaking this soon. She says “more” all the time and she completely understands its versatility. She uses it to request more food, more drink, more play, more teeth-brushing, more of whatever it is she hasn’t had enough of, and she also uses it to indicate to us when she’s hungry (it’s probably clear by this point how highly motivated she is by food!). I bet she’ll be saying more soon. She pays very close attention to the way my mouth forms words when I’m speaking to her and sometimes she imitates the movements soundlessly with her lips. I can see on her face at times that she wishes she had the word for what she wants to say, which is wonderful! She knows there are words she doesn’t know, and she understands the purpose and usefulness of verbal communication.

Her imitative skills have also improved greatly. At the start of the summer she did not imitate at all and even seemed resistant to the very idea of it. Whenever we tried to encourage her to copy us, she would direct her attention to something else. She still does that when something seems too complicated to her, but she will imitate a lot of simple play (splashing water, patting hands on a surface, clapping, clapping two objects together, peek-a-boo).

We’re incredibly pleased and encouraged by J’s progress. Her VT therapists are truly amazing, and it’s been wonderful being home with her so that I can work with her. She has benefited noticeably from the one-on-one attention. In January 2018, she’ll be starting daycare full time. Many have asked if I’m apprehensive about sending her full time, coming from a stay-at-home-mom situation, and the answer is: not at all! J does not have stranger or separation anxiety and I’m not really worried about how she’ll adjust to being away from me. She is very curious about other children and I’m so excited for her to have the opportunity to be around kids her age several days a week. I, myself, will definitely miss spending so much time with her, but if I’m honest, being a stay-at-home-mom is no walk in the park (except for when we go to the park). I love, love, love being with my daughter and I appreciate how lucky I am to have this opportunity, but I also look forward to doing something in addition to being a mom (right now, momming is pretty much all I ever do).

Our Move to VT

It's been a while since last I posted, mainly because we've spent the last few months planning a move, moving, and settling in. 

Back in March we started planning a move from NYC to Vermont. Apart from the usual, there was a lot to think about and a lot of details to work out. The biggest headaches have been getting J's Early Intervention services set up and getting her into the pediatrician.

Our new services coordinator is lovely and very knowledgeable. She's been following up with us and keeping us in the loop, but I started this process back in April and our therapists are still not established. I'm getting antsy to start J's therapy sessions because she's already been out of therapy for over a month. 

The pediatrician has been a painfully long process, too. The highest recommended pediatrician practice in Burlington recommended we go elsewhere because of how long it takes them to register new patients, so we're going through the University of Vermont Medical Center. Our appointment is coming up next week, but it was scheduled almost a month ago. 

Thankfully, her new pediatrician was kind enough to refill J's topirimate prescription (her insurance wouldn't cover a prescription written by a New York doctor, and a month's worth of the drug is over $400 out-of-pocket), and she also referred us to the local neurologist, without having to see J first. Her neuro appointment is also next week.

Those have been the negatives of moving. I didn't realize any of these things would take as long as they have and it does worry me a bit. J needs to have an vEEG this summer, and needs to also be referred to an ENT and a pediatric ophthalmologist, the latter of which I've been told does not exist in Vermont, so we will have to go out of state, which her insurance may not cover. 

The positives, however, are many! Our place is twice as big, so J has a lot more room to move around. We also now have stairs, which have been great since J is not being seen by a PT right now. We try to get her climb up them by herself at least once a day.

There's tons to do around here, too, all outdoorsy stuff that we didn't get to do in NYC. Yesterday we took J to a beach on Lake Champlain. The day before, we toured the Ben & Jerry's ice cream factory, and over the weekend we took J to the ECHO Leahy Center, to which we got a free membership through the Vermont Family Network.

Also, since we've moved, I've been staying home with J, so at least in the absence of her therapies, I can work with her every day and monitor her progress myself, as opposed to relying on a daycare teacher to take time to focus on her and accurately report back to me how she's doing. 

A lot of people back in New York wanted to know why the heck we decided to move to Vermont? The answer to that is, I am hoping to go back to school to study Early Childhood Special Education (BS), and Physical Therapy (DPT). I trust I don't have to explain what inspired me to do that. 

Another reason for moving is that I grew up in a rural area and have always known I wanted to take my family back to nature. NYC is a great place to raise a child, but it's not for us. We could never dream of owning a home there, it's too expensive, and I really want J to eventually have a yard to play in. We may not stay in VT forever, but we probably won't move back to the city, even after I'm done with school.

For those considering moving with their special needs child I would recommend the following:

• Reach out to the E.I. organization where you're moving to a few months before you do. You can get all the paperwork done ahead of time to minimize the wait. 
• Find a pediatrician where you're going well before you move. If you're going to be switching insurance, you can give your current insurance at the time you register your child, and update them with your new insurance at your appointment. Even in rural areas it can be difficult getting an appointment because, although there are fewer people, there are also fewer doctors. 
• Request a copy of your child's medical records from your pediatrician and specialists a few weeks before you move, so that you don't have to wait for them to fax the records to any new doctors you want to get your child established with. It's better to have them in your hand. That way, too, you can scan them and keep them on your computer.
• Make sure you are aware of how much of your child's medication you have on hand and whether you have any refills. You can have your pharmacy transfer the prescription to a pharmacy in your new town, but be aware that your new insurance may not cover a prescription from an out-of-network doctor (another reason to make sure you have a pediatrician appointment set up for shortly after you arrive). Luckily, we were able to get J's new ped to write a prescription for us, but the insurance company had recommended that we take her to the ER for a script (don't even get me started on what this says about the state of healthcare in this country).

As far as the actual logistics of moving a home and a small child, we had my folks come to New York to help us out. My dad and my husband packed the truck while I packed up the house and my mom watched J. Then my mom drove her car with J and me, and my dad rode in the moving truck (which we rented) with my husband. All the better if you just hire movers! But we didn't have a car, anyway, so even with movers we would've needed a solution for getting ourselves up here. 

J's still kind of on her developmental plateau. Since last I posted, she has learned to drink her bottle while sitting or standing (still not standing without support of furniture), and she has started trying to stand up away from furniture, but she doesn't quite have the balance yet. She does have the core strength, though, and if we hold her hips when she's on her hands and feet, she'll straighten to standing just using her trunk! We're working with her on the balance. She's learned how to use some of her toys properly. She can pull the string on her See-'N'-Say, which never ceases to impress me. She's crawling very fast now, it's hard to keep up with her! She's clapping, now too. It took her OT six months to teach her that. She doesn't really do it because she's happy, though, it's just kind of like, suddenly it occurs to her to clap and she does it. But she's starting to explore the function of her hands and trying to move her fingers individually. It's funny to watch her sitting in her high chair, gazing in awe at her opposable thumbs and bendy index fingers.

Most importantly, J continues to be a happy and [otherwise] healthy kid. She smiles and laughs, she's goofy and silly and we love her to pieces! 

Our goals this summer are to get her into some playgroups with other kids her age, and practice, practice, practice walking! Her PT told us she'd be in good shape if we can get her walking by her 2nd birthday. We're optimistic while not getting our hopes up. I'm not sure if I think she'll be walking in six months, but you really never know! She went from barely holding her head up to crawling in just six months last year. This kid is so strong, you can't put anything past her. 

Pontocerebellar hypoplasia type 6

In the days (and weeks, and months) leading up to our genetics follow-up, I was nervous. Nervous they would find something . . . nervous they wouldn’t find something. And I had plenty of time to let my mind wander to the worst possibilities, since our follow-up was scheduled for mid-February and our blood was drawn in November. Even so, being that I’m not a geneticist, my wandering mind never wound up in the right place.

“We think we found something.” Dr. Bassetti, the pediatric geneticist at Cornell handed us each a thin packet. Upon first glance, there were a lot of things in it that held no meaning for me. A lot of medical jargon and numbers I didn’t understand. What Dr. B ended up telling us would take a long time to sink in completely. Upon writing this, I think it has finally sunk.

If you’re like me and remember very little from biology class, let me first give you a brief (and very elementary) refresher on genetics. When babies are made, they get one copy of every gene from their mom and one from their dad, so (barring any deletions) everyone has two copies of each gene. Remember the big square divided into four smaller squares, with the capital “A” and lowercase “a,” and capital “B” and lowercase “b,” to show dominant and recessive genes? That’s how you can tell a child’s odds of having certain characteristics, based on their parents’ features. This is how we knew that J had a roughly 50/50 chance of having blue or brown eyes (lucky girl has the most gorgeous, bluest-of-blue eyes).

We did not know, however, that T and I each have one copy of the same gene that is messed up, giving J a 25% chance of inheriting both of the messed up genes for a pair, which she did. The RARS2 gene. This causes a condition known as Pontocerebellar hypoplasia type 6.

There are somewhere between 6 and 10 types of Pontocerebellar hypoplasia (I’ve read it both ways) but there is very little information out there about any of them. The most recent study on PCH6 that I have read stated that there have only been 27 documented cases, in 14 families. I suppose J would make 28.

So, what are the characteristics of PCH6? Children with PCH6 are commonly afflicted with early-onset seizure disorders (like Infantile Spasms), severe developmental delays, and a slew of other problems, including ongoing seizure disorders--which reinforces our concern that J is at risk for developing other kinds of epilepsy.

“Pontocerebellar hypoplasia” describes the atrophy or malformation of cerebellum, cerebral cortex, or brain stem, which can lead to microcephaly (small head--now a buzzword due to the recent Zika outbreak). The life expectancy of a child with this condition is yet unknown because so few cases have been reported and most of them have been reported recently, meaning the children are still young. One article I read suggested that there have been no reports of people with PCH living beyond their 20s, but that is more likely to be because the kind of genetic testing required to diagnose this disease is fairly new (and becoming more accessible), and most children who undergo such rigorous testing for a diagnosis are severely affected. High-functioning children like J may not be diagnosed.

Developmentally speaking, PCH6 does not seem to be a “progressive” disease, meaning at this point J will likely not lose milestones. However, microcephaly--caused when the brain stops growing, or atrophies--can set in any time in early childhood. Although J’s head size has always been within the normal range, and actually on the larger size, it’s something we’ll have to monitor closely for the next few years. Unfortunately, even if we catch it, there isn’t anything we’ll be able to do about it.

Of course, any child with a condition affecting neurodevelopment is at risk for learning disabilities, autism, behavioral problems, and (already seen in J) developmental delays.

J is thus far missing the key features that are typically seen in a PCH6 diagnosis. Her genetic test actually reported an “uncertain” result rather than a “positive” result for this reason. Back in the summer when she had her MRI, there were no abnormalities seen, which is atypical for a PCH6 diagnosis. The next step will be to have a neuro-radiologist review J’s MRI scans from last summer, and then do another MRI 6 months from now.

What will this mean for J long term? Well, we don’t know. J is doing so much better at one year of age than any other child yet known to have this condition (that I’ve read about), and since so little is known about the way it progresses, just as before, it’ll be years before we really know what J’s outcome will be.

I have had a lot of trouble digesting this information. At the geneticist’s office, this condition didn’t sound so bad, but I didn’t realize then that, even though J is doing okay right now, things could still go south. On the other hand, Dr. Bassetti did warn us that the literature available on this disease is not very family-friendly and primarily describes the worst cases, which I have found to be true.

I am relieved at having an answer, if just to know that this wasn’t caused by something I did wrong. We couldn’t have prevented this or even known that it was a possibility. But I’m terrified that J’s progress is going to halt, that she’s going to develop acquired microcephaly, or intractable seizures. She’s doing so well and I was starting to feel really hopeful about her future, but now I feel it may be irresponsible to be too hopeful. As a parent, that feels awful.

I’m disappointed that we still don’t know what to expect. We still have to wait and see how things go. I want to be proactive about treatment, but you can’t treat what you don’t yet understand, and in reality there is no treatment or cure for PCH6, only supportive options.

The other cruel part of this is that any subsequent children of ours will have a 25% chance of inheriting PCH6. This is particularly devastating to me because I was so looking forward to having another child. Now I have to consider if the risk is really worth the potential pain, not only for me and our family, but, more importantly, the hypothetical baby. There are other options. . . . Should we spring for IVF, which can be very expensive and unsuccessful, but would guarantee a child without this condition? Or should we adopt, which is also very expensive and does not guarantee a child without a significant disease or disorder? What was once just a matter of determining when the time was right, is now a huge, overwhelming, potentially financially draining, potentially heartbreaking, decision. Genetic testing can be performed via CVS at 10 weeks gestation, so we would know well ahead of the birth if our child had PCH6, but we would have no way of predicting what that would mean for that child, since it affects every child differently (I read one article that discussed two PCH6-positive neonates that died within days and weeks of birth, and another about a child who was 15 at the time of writing), and then we would be faced with the decision of terminating or continuing, something we almost had to consider during my pregnancy with J when we learned the Down Syndrome risk for that pregnancy was 1/11 (usually 1/300 or better for a mother my age). It was an incredibly difficult thing to think about. Even at 13 weeks, we were very attached to our little fetus.

The silver lining of all of this is that J can now contribute to research on a disease that is not well understood. We have the opportunity to help other families dealing with this condition, help improve access to screenings, or find treatment, and, if J continues to do well, help to give people hope.

The other thing to keep in mind is that, while there is so little known about this disease, few diagnosed cases, and J’s future is uncertain, not only does that mean that things could take a turn for the worse, but they could also continue to improve. There is nothing really to say at this time that J won’t continue on this positive track. I’m grateful that she is in the care of some very bright and attentive doctors. If it weren’t for Dr. Bassetti, we may never have known that J had this. Another doctor may never have gone to the trouble of ordering whole exome testing.

Another positive is that nothing was found in the secondary results for any of the three of us, which means that we have no genetic predisposition for developing other common diseases.

At this time my anxiety around J’s health has rekindled. I’ve fallen into my old habits of checking on her several times after she’s gone to bed in the evening and waking up at night to make sure she’s breathing. Just after our appointment J got the flu and had a fever for several days which compounded my anxiety (fevers can increase the risk of seizures). That, thankfully, has abated and she’s feeling much better.

Although I am feeling less hopeful for a good outcome right now, I am open to the notion that this hopelessness may pass, and I am determined not to let this affect how I treat J. She isn’t a different person because of this, and for all intents and purposes, we don’t know any more about her future now than we ever have. We will trudge on with her therapies and work diligently with her to improve her motor skills and social skills. J is happy as could be. She smiles all the time, and laughs, and seeks us out for attention, and shows excitement when we come home. Our day-to-day life is good and pretty much like any other family’s, and that’s what we need to focus on to get us through this!

This post features information Pontocerebellar hypoplasia type 6 and reflects my personal understanding of what I have discussed with our doctors and read in medical journals. If your child has been diagnosed with PCH6, please discuss prognosis and symptoms with your doctors. I also encourage you to conduct your own research. Your doctors should be able to provide you with up-to-date, professionally written articles.

J turns ONE!

A little over a month ago J turned one. ONE. Wow! We had a party for her and I went a little overboard with the decorations for a one-year-old’s birthday party, but who could blame me? This was a celebration for the whole family. J’s first year was a challenge for us all.

J, however, is not letting any of this define her. She is charging through milestones now. In the last month alone, she started sitting up from lying down, crawling on her hands and knees, pulling herself to standing! She is now saying “mamama,” and “dadada,” and “bob.” She looked at a ball the other day, concentrating very hard, and said softly and deliberately to herself, “ba.” I was so surprised and thrilled.

J’s vision has also come a long way in the last four months. You would never know now that she had, or has, any vision problems at all. Her eye contact seems normal and she can recognize people and objects from across the room.

She’s still not quite where a one-year-old should be socially, but it’s hard to tell at this age if that’s a delay or if she’s just going to be a very independent kid. She does look to us a lot to see if we’re paying attention, but she can play by herself for long periods of time. Less so now, than before, but still more than other children her age that I’ve seen.

She’s cutting two more teeth which, if you’ve lost count (easy to do with this kid), are numbers 11 and 12, two top molars. We had our first bloody injury when J rammed the wood end of a xylophone mallet against one of her new teeth and scraped her gum. I thought at first she’d broken her tooth off, but thank goodness that was not the case. She wailed about it all the same, poor baby. I guess we’re lucky if we made it to 13 months before blood happened.

J’s new neurologist decided to increase J’s topirimate dose after discovering from a blood test that J’s level was 3, less than ⅓ what it should be. Before she was taking 15mg twice daily, and now she is taking 30mg in the morning and 45mg at night. She’s no longer taking the levocarnitine or the B6 (yay!) and so giving her meds has become exponentially easier. We haven’t noticed any side effects from the increase.

Our biggest challenge with J right now is actually a normal baby problem: sleep.

J goes to bed at 7-7:30pm and is still waking around 3am for a diaper change and a bottle, but then she’s up for an hour or more.

We’ve tried everything but this girl is just some kind of baby robot who doesn’t need sleep. We’ve tried extra-absorbent nighttime diapers, giving her boring old water instead of milk, ignoring her, not ignoring her, letting her play in her crib until she goes back to sleep, bringing her into bed (which makes it worse). We have a white noise machine which doesn’t do much, and sometimes we’ll cave and put her in her Rock’n’Play, but at 27lbs and 31” she’s way too big for it and we really hate to encourage that habit. Another bad, naughty thing we’ve tried: TV. I’ll put a show on for her on my laptop and turn the screen off so she’s just listening. This does help, she will listen quietly until she falls asleep, but I don’t know if it’s something I want to keep doing.

We even tried putting her to bed later, at 8pm, but then she just started waking up at 4:45am and taking three naps during the day. She was super grouchy and a few days into that she was ready for bed by 6pm and then she woke up at 11:30pm and didn’t want to go back to sleep.

She usually gets up for good at 6am (which would be fine if she [and we] slept through the night), so on a good night she gets about 9 hours of sleep and naps no more than 2 hours during the day. That just doesn’t seem like enough for a one-year-old! It’s definitely not enough for mama and dada. We haven’t found the magic sleep solution yet, but I’m hoping that time and experimentation will reveal it to us soon. I have a sneaking suspicion that the solution is having her own room, but in our one-bedroom apartment it’s not feasible right now.

Now for some big news: J is going to start daycare in a few weeks! I’m so excited for her to be around other children. She always seems to make such big developmental leaps after playdates with her baby friend who is the same age, but we don’t get to see him and his mom that often because we’re all just so busy.

I brought J with me to register her and meet the teachers and she was right at home in the nursery. After filling out paperwork I found her there happily chewing on a car, sitting with the other children, and the teachers, who were right on the floor playing and singing to the babies.

Finding a daycare willing to take her on is a huge relief. Others were so apprehensive about J’s condition that they would stop returning my e-mails after finding out that she has epilepsy. I find that fairly ridiculous as any child could develop epilepsy at any time, and all daycare teachers should be educated enough to handle that. J’s seizures are well controlled and while behind developmentally, she by no means needs one-on-one care anymore. At the same time, though poorly handled, I’m grateful those daycares were so transparent about their feelings toward children with special needs because I wouldn’t want to send her to a daycare like that. J deserves to be somewhere she is accepted and not thought of as a burden or a timebomb.

In other news, if you are in the throes of IS treatment, or have been through it in recent years, and are appalled by the $34,000 price tag on your child’s ACTH medication, here is a victory that could potentially pave the way for more affordable IS treatment in the future. Sure, a $100 million fine is a drop in the bucket for a company like this, but at least someone is taking notice of this gross injustice and working toward doing something about it. It won’t help those of us who’ve already been through treatment, of course, but we root for those who will go through this in the future and for the children who need treatment options their parents don’t have to worry about affording. Money shouldn’t have to be another issue for families dealing with life-altering illness.

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.