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!)