Microcephaly Awareness Day!

One of the defining features of PCH is progressive microcephaly. Microcephaly means having a small head, and progressive suggests that it will get more pronounced with time. It's not as if her head is shrinking or anything (I can't help but think of that last scene from Beetlejuice with the shrunken head guy in the waiting room); it's just that her head grows at a VERY slow rate so that as the rest of her body grows at a normal rate her head will continue to look smaller and smaller on her body.

In fact, it really is just in the past few months that I have begun to think that it is becoming more obvious. At warm water therapy last week, the therapist noted that at first glance it looked as if Norah's head was about the size of a 6 month old's. After looking at the growth charts, she was spot on. The 50th percentile for head circumference in a 6 month old is 44.03 cm, and last week at her genetics appointment Norah's head measured at 44 cm (17.32 inches). Again, looking at the growth charts, the 50th percentile for a 26.5 month old is 47.78 cm (18.81 inches). The 3rd percentile is 45.03 cm (17.73 inches). So Norah falls almost half an inch below the 3rd percentile.

To put this in context with the 'progressive' part of the microcephaly, when Norah was born she was in the 7th percentile for head circumference (Sidenote: Interestingly, not a single nurse or doctor mentioned this to me--I have to be honest, it seems noteworthy! But I didn't find out until two weeks ago when I was reading through some of her medical records sent to me by the social worker from the hospital to support our medicaid waiver application [different post, coming soon!]). So, while doctors want to see kids following upward curves on these growth charts, Norah is showing a slow downward slope.

I truly have no idea how much more Norah's head will grow, or when it will stop growing all together, but for today (and every day) we will celebrate her for who she is and spread awareness of this surprisingly common disorder. Microcephaly affects about 2.5% of the population and has a wide variety of causes. Check out this link from the Mayo Clinic to learn more: http://www.mayoclinic.com/health/microcephaly/DS01169

Here's Norah wearing yellow to raise awareness for microcephaly! Her pose, framing her head, is quite apropos, if I do say so myself :)

A good day!

Despite several pretty intense seizures, today has been a great day! Primarily because we got to pick up Norah's wheelchair/stroller. We started the process in February, and 4 denials (two from our primary insurance, two from our secondary insurance), a long appeal process, and many phone calls later, we got to take it home today! 

It came fit to her measurements from February, so it was pretty cool to see how much our little lady has grown. Her femur alone grew 1.5 inches! Way to go, Norah! Failure to thrive, my butt. 

Of course, Norah had to immediately brand the stroller. Shortly after getting in, she had a big seizure and puked up all the carrots I had given her for a pre-breakfast snack. Thank goodness for black fabric on the seat! It also allowed us to see how great the forward-tilting seat function is. With the butterfly chest strap in place, we can tilt her forward and let the vomit fall out of her mouth so she doesn't suck it back into her lungs. That's just one of the awesome features this chair offers. My favorite, I think, is that I can switch the seat to be rear facing, so I can see her when we're on a walk. Yay! 

The thing weighs close to 40 pounds, but the seat can come out of the base, so I should only have to lift about 20 pounds at a time...and Norah is a bit heavier than that now (21.5 pounds...woo hoo!), so it shouldn't be too bad. A good upper body workout, at least. 

Getting the chair also made me get my butt in gear about asking for a handicapped tag for our car. I called the doctor and it's as easy as them filling out a piece of paper and sending it to me. Once I get it, I can take it to the SOS (Michigan-speak for DMV) and get the tag. For some reason, I thought it would be much more difficult than that. Apparently I could have gotten one a long time ago, but I felt weird having one before we had the wheelchair, for some reason. (This would be a great discussion topic for a Disability Studies class!)

Can't wait to take our girl out for a spin in her new wheels this weekend! 

Asking for help

Norah woke up happy today--hooray! I love hearing that little squeal from her crib when she wakes up and looks around and is just happy to start the day. On these good days, we get to see her happy feet. She does this little bicycle move and pulls up her head (what strong abs!!) and just grins and squeals. It's seriously adorable. We all live for these days :)

It's about time for a good day. We've had several notso great days in the past weeks. Yesterday ended up well, but the morning was just awful and I ended up calling in Janel (amazing nanny) on her day off. We are so lucky to have her. I texted and said it was one of those days that I just didn't feel like I could do it on my own (Brian was at work), and she immediately hopped in the shower and headed over. She was there within the hour (she lives 30 minutes away). 

Janel with her girls (Norah and the other little girl she cares

 for the 2nd half of the day--they got to spend a lot of time

 together this summer, and Norah LOVED it!)

Before I called Janel, Norah had a giant seizure that lasted over a minute and a half (which is LONG for her). Poor baby. After a rough afternoon the day before (coughing/vomiting/bouts of not breathing/suction machine for an hour), I was at my wits end. I sat on the couch with her after the seizure and just cried. I have to say, I am so glad that I have gotten over feeling bad when I need to ask for help. Because once I pulled myself together a bit and dried the tears, I texted Janel. Sometimes we just need help! And thank goodness we are lucky enough to have an amazing support system--I know that many people do not have that luxury.

Mama Bears

I am one lucky lady. I am reminded of this daily for many reasons. But today I am feeling so grateful for my amazing sister and mother, who took it upon themselves to make sure my experience at Trader Joe's did not go unheard.

Here is the response from the manager of the store. Very sincere. I'll call him later today.

"Dear Liz,

I'm writing to apologize for the absolutely unacceptable experience you had in our store the other day.  I spoke with your sister a while ago and she shared with me what had happened.  I can't begin to tell you how sorry I am about the total lack of service or help that you received with the situation while our crew member did absolutely nothing to help.  I wouldn't expect that lack of caring anywhere, especially here at Trader Joe's.  We train our crew to go out of their way to give a great customer experience and it is very disconcerting to me how this could happen.

I appreciate that your sister contacted me so I would have the opportunity to offer my sincerest apology.  I would like the chance to apologize to you either by phone or in person if you would even consider coming back after what happened.  Our phone number here is (xxx) xxx-xxxx.

Once again, I would like to extend my sincerest apologies for the experience you and your daughter had at our store.

Brent Berner
Captain Ann Arbor, MI"

My mom has taken it upon herself to contact the president of the company. Wow. We've gotta love our Mama Bears, and embrace the Mama Bears within ourselves! :) 

Blank stares

Well I know I said I'm fairly immune to Norah's vomiting now, but that applies mostly to when we're in the comfort of our own home. Public vomiting is still difficult for me and part of the reason we don't go out very much.

Norah had a bad day today. She was sick overnight and woke up vomiting, which was promptly followed by a seizure. This pattern continued throughout the day. This has been happening more and more lately. It's scary. She's losing weight and I don't know how to help her. Talk about a helpless feeling. The g-tube (I think I forgot to mention that she had surgery at 11 months to place a feeding tube) can only help so much. It's great for making sure she stays hydrated but I can't force the food to stay down. I can only control what goes in. I will write more later about this, because it's a big issue right now and I'm pretty set on switching to what's called a blended diet. I hear liquid diets are all the rage right now, so naturally Norah needs to be in on the fad. More later.

Anyway, back to public vomiting. It was a crazy day today and after I picked Norah up from a friend's house (nanny kept Norah late for me and took her back to the house of the other family she nannies for), I decided to run into Trader Joe's for a few quick things. I literally needed 3 items. I was moving as quickly as possible, knowing that Norah was having a hard time keeping food in, and as I was picking up the third item I heard the burp and get the heave. "No, no, no...shit!"  Fortunately it hit the floor and not a person or merchandise. Mostly it was all down my front, my back, and Norah. Ugh. The worst part was that an employee was stocking the shelves close by and watched the whole thing go down. Did she offer help? Nope. She just stared, blankly, while I struggled to put down my basket and rush to the bathroom. It's hard to not feel embarrassed or ashamed. I did nothing wrong. But I could bet we were part of that girl's stories to her partner or roommate tonight. "Ew, guess what happened at work today? Some lady came into the store with her child who was OBVIOUSLY sick and her kid threw up all over the floor. Why would she bring her kid out and expose people?" Now this may seem paranoid but admit it, we have all said things like that before. I just hate that everyone thinks that Norah is sick. I hate the way people may think I'm a bad mom. I feel a pull to stop and explain that Norah is not sick with a contagious disease. But I don't. Who has time for that? After all, I was covered in puke, Norah was covered in puke, and I just wanted to buy my 3 things and go home.  I of course cleaned up her mess first, over which said employee had placed a giant cardboard box that she had just emptied. She was still there, staring blankly as I held Norah, and struggled to lean down and wipe the floor.  Not a word. Not a smile. Not even a look of pity. Again, UGH.

I'd like to think, in fact I know, I would offer to help. I offer my help to people whenever I get the chance because I know it's nice and I know it's appreciated. I truly think people don't know what to do in those situations but now that I'm on the other side, I jump up immediately. I hope those of you reading will try to make that a habit too. It's okay to help a stranger. It really is. We appreciate it more than you know. And isn't it better to get to be the person in someone's story who went out of their way to help you than to be the person in the story who just blankly stared? I sure think so.

Info about PCH

So after introducing our story, I figured I would back up a little bit and provide some more in depth information about  PCH. The information below is what the medical community has published. As parents of children with PCH (there is an absolutely phenomenal facebook group for parents of children with PCH--it has been my lifeline), we take much of it with a grain of salt. We know our kids can do more. They amaze us every day. But this is what we all read when we first received the diagnosis. It's horrifying. Fortunately, there is a group working on creating a booklet to give to new parents that will share the stories of many children with PCH, so parents can see the positive side as well. Unfortunately, it's all gloom and doom in the medical community:

Pontocerebellar hypoplasia type 2 (PCH type 2)

http://www.ncbi.nlm.nih.gov/books/NBK9673/ for more in depth medical information.

A general overview: 

In PCH type 2 there is progressive microcephaly from birth combined with extrapyramidal dyskinesia. There is no motor or mental development. Severe chorea occurs, and epilepsy is frequent, while signs of spinal anterior horn involvement are absent in PCH type 2. The main feature distinguishing PCH type 1 from PCH type 2 is that anterior horn cells are spared in PCH type 2.

Characteristically, pregnancy is normal. However, at birth, the newborn may show breathing problems or respiratory failure that may require mechanical ventilatory support. Some may have sucking or feeding problems. Most patients with PCH type 2 are born with normal size head. Some already have microcephaly at birth. All affected children have worsening or progression of the microcephaly during infancy. Other features of dysmorphisms are absent. They have impaired mental and motor development. They have abnormal movements termed extrapyramidal movement disorder. All affected children develop marked extrapyramidal dyskinetic movement disorder with predominance of dystonia. Jerky movements and almost continuous dystonic choreoathetotic movements may be seen. These movement abnormalities are usually noticed during the neonatal period of these children.

They have severe to profound mental retardation. No patient with the classical PCH type 2 ever achieved the milestones of sitting, crawling, standing, walking, talking, or developed meaningful social contact skills. Visual fixation is persistently poor and only about one third of these patients are able to fixate and follow. Seizure disorder is frequent. Approximately half of these children may have seizures. A minority may also have hypotonia or hypertonia even as early as the newborn period. Minority may show spasticity.

They are severely handicapped with no voluntary motor function. The children have severe cognitive and language impairment, and with no verbal or non-verbal communication.

There is a near total loss of Purkinje fibers in the cerebellar hemisphere and an undetectable dentate nucleus. Neuronal loss is marked in the basal ganglia and thalamus without any anterior horn cell involvement when autopsy is done. The vermis is also relatively spared. These features are similar to those seen in PCH type 5 and suggest a continuum of pathology between both PCH type 2 and PCH type 5.

The clinical findings, the severity of movement disorder and the developmental delay do not correlate with the degree of pontine or cerebellar hypoplasia on MRI. It is possible that there is a continuum of severe neonatal and infantile types rather than clearly defined groups.

Death during early childhood has been attributed to respiratory and infectious complications.

Getting started

I never thought I would be a blogger, but our sweet daughter Norah has opened many doors I never imagined I would walk through. So here I am crossing the threshold into the world of blogging. And I do it all for Norah.

A (not so) brief introduction to Norah and our family: When she was 9 months old, Norah was diagnosed with a rare genetic disorder called Pontocerebellar Hypoplasia, Type 2. Back up 9 months to the day she was born...Norah arrived on her due date after a healthy pregnancy, labor, and delivery. She was on the small side of average, but nothing to be concerned about. She cried right away, got great Apgar scores...a happy, healthy baby girl. The only teeny glitch--she couldn't figure out how to suck. But again, the doctors and nurses said that sometimes it happens, and they were all just convinced my due date was wrong and in fact Norah came a few weeks early. Nope, I kept telling them, it just wasn't the case.

Anyway, I didn't worry since the doctors weren't worried. After an extra day in the hospital, Norah had figured out how to suck on a bottle so we took her home and kept right on working on her sucking skills. Lots of visits with a number of lactation consultants, but once again...this was pretty normal from what I had heard from other moms. Breastfeeding isn't as easy as people make it out to be. I was ready for the challenge! We tried and tried but I just kept noticing that it seemed as if Norah's rooting reflex (brush their cheek and they turn toward you, ready to suck) was reversed. Every time I tried to nurse, she would turn the opposite direction. Weird. But not enough to worry doctors.

Well it didn't take long before the doctor noted slow weight gain. Commence weekly/bi-weekly visits to the pediatrician for weight checks. In the meantime, her head was also not growing, she wasn't smiling, she wasn't making eye contact, she wasn't pushing up on her arms, she wasn't holding up her head. We had to supplement more with formula and add oil to try to get her to gain weight. And oh the vomit...so much vomit. I can't tell you how phobic I was of vomiting before having Norah. Thanks to her, I was flooded with so much vomit that I'm totally over my fear now! Small personal victories is what it's all about.

I'll spare you the details of the 5,000 doctor appointments over the course of the next 5 months. We saw just about every specialty there is: Cardiology, Pulmonology, Ophthalmology, Genetics, Neurology, Physical Medicine and Rehabilitation, we did swallow studies, x-rays of a variety of body parts, EEGs, EKGs, we started weekly PT and OT for her first diagnoses of torticollis (preferring to look only one direction) and plagiocephaly (a flat head as a result of looking only one direction). We got a helmet to help fix the flat head. We started an Early Intervention program at the preschool (PT/OT/Speech therapy/Play therapy). And then at 6 months we did an MRI.

That's when we started honing in on her final diagnosis. In the meantime, she had received a diagnosis of cerebral palsy. Hard to swallow, but there wasn't necessarily cognitive impairment associated with it, so we were fine. We adjusted our expectations accordingly...she might be in a wheelchair. Heart breaking, but I still felt okay. I was scared, but not shattered...yet.

The next three months were full of blood draws, urine draws, more doctor visits, a diagnosis of Failure to Thrive. The doctors tested her for three other disorders, each time a bit more severe than the next, and we were relieved each time the tests came back negative. We were living in a constant state of fear at this point. At any moment, we could be told our daughter had a terrible disease, something we could never fix...we couldn't help but fall into the dark places of expecting the worst.

The last test they ran needed to be sent to Wisconsin (one of two labs in the Midwest that had the capability to run this specific test) and would take two to three weeks to come back. The geneticist called me early one morning when I was doing last minute prep work to teach my 9:30am class. She told me the name of the next disorder for which they were testing. And of course I made the mistake of Googling it. Now, those who know me can attest to the fact that I hold it together pretty well in difficult situations. I'm not a public crier. I tend to swallow that lump in my throat and move on. I learn about it, that's what I'm good at. The nerdy psychologist in me knows that Freud would label this as the coping mechanism 'intellectualization'. I have mastered it. But that day, reading about the diagnosis of Pontocerebellar Hypoplasia and the prognosis of this awful disorder, I lost it. Right there. In the middle of the computer lab. And then, I sucked it up and went and taught my class. The next few weeks were not easy ones, and were filled with lots of research and lots of rationalizing that this could NOT be what Norah had. She might have had poor trunk and neck control, but she didn't seem sick. She couldn't be dying.

And then I got the call from the geneticist. I was driving home with my mom from my cousin's bridal shower in Washington D.C.  My husband had stayed home with Norah and his parents. I was driving in the rain, in construction, just ominous surroundings all together. Very fitting, in retrospect.

Now I know you shouldn't answer your phone in these circumstances, but I knew it was the geneticist and I knew what was on the line. I was NOT going to miss that call. I answered and looked for the nearest exit. In the short time between answering the phone and getting off the highway, our worst nightmares were put to shame.

Not only was I told that Norah had PCH Type 2, but I was told her median life span was only 4 years. And then the kicker...she would most likely just pass away in her sleep, with no warning whatsoever. I asked the doctor so many times if she was sure about that. She won't get sick first? We'll just find her one morning, gone? How can that be? But that's what the TWO research articles said which she had read before calling me. She emailed me the articles. Believe it or not, there wasn't much more than that available to read. This disorder is so rare that most of the doctors hadn't even heard of it, much less seen another patient with it. We were lucky that one of the neurologists had seen and MRI and case notes from one other child who was diagnosed with PCH. He recognized it, and that is why we did the test for it in the first place. But aside from him, no one had a clue. So while that will go down as the worst several minutes of my life--I can't blame her for telling me. I asked, she answered. It's the only information she had.

Anyway, from there we started our journey in figuring out how to make the best of the short life Norah has with us. First things first, we got rid of the helmet! Who cares if she has a flat head! The next steps weren't so simple. But, we do our best to live day to day and have fun, and love this ridiculously beautiful little girl we get to call our daughter :)

                                         

                                       

                                  

(Just as a side note: I feel it very necessary to mention that through all of these hard times, my family and friends were such an amazing support system. They did everything for us. My friends cared for Norah, at the psych building while I was teaching and meeting with students, twice a week for three months; my mom came to almost every doctor appointment with me and Norah in those first few months because Brian couldn't get off work, and she came and stayed at our house for two weeks of each month for eight months straight to help out with Norah so I could finish school; our daycare provider loved Norah so much and was so sad to see her leave once we got her diagnosis; our in-home nanny is a second mother to Norah and loves her with all her heart. My friends from afar check in regularly, even when I have been awful at returning calls; my mother- and father-in-law came the other two weeks of each month for eight straight months to help out. I could never ask for anything better. We are so lucky and so loved. So many thanks to all of you who have made these challenging times so much easier to manage. It's been quite a ride, and I'm so happy to have my little 'village' helping to raise Norah and give her the best life possible!)