Well, I can hardly believe it, but my baby is turning 5. It's a big number for any baby in the family, but for our baby it's an even bigger milestone - one we weren't sure she would ever reach. For those of you new to our journey I'll give a brief outline to catch you up and save you the trouble of reading previous posts.
- Madilyn Jane Miller born October 18, 2011. A dark haired beauty born full term and without any complications. However, her first night in the nursery she was "jittery". They found this likely to be the sign of an immature neurological system. Basically, it was fine, she was fine. Take home your healthy baby.
- Shortly after arriving home I noticed Madi kept her hands fisted near her face. I was concerned, but we chalked it up to mommy stress.
- During Madi's 6 month checkup (April 2012) I relayed to the doctor some of my concerns. I believed she had strabismus (crossing of the eye), she wasn't sitting up yet, wasn't reaching for toys, her head sort of bobbled when she held it up, and those darn hands were still fisted A LOT. Our doctor became concerned when I brought up the fisted hands and he started doing a more thorough examination. He showed some concern and tried his best to hide it. He said she was "developmentally delayed" and wanted to see how she was at her 9 month check up. I began to realize my fears weren't just mommy stress. After doing my own research we requested a referral to see a specialist.
- Jump ahead a couple of months and we finally see a specialist at Children's Mercy. He actually wasn't overly concerned with Madi and felt that her issues were "mild" and wanted to monitor her development. We pushed for an MRI. He consented and we had one in June of 2012.
- Her MRI was on a Friday and we received the call Monday morning. He began with "Mrs. Miller it's bad, really, really, bad. I've never seen anything like it." I wish I could tell you the rest of the conversation, but my brain sort of shut down at that point. I was flying on auto pilot. He believed Madi had Pontocerebellar Hypoplasia (PCH). He asked us not to research it and to come in for a consult to discuss her diagnosis. As you can see in the photo below Madi doesn't really have a cerebellum. There is only a hairline structure shaped somewhat like a backward C. The "pons" is a bump-out on the top of the spinal cord and she is missing that as well. In fact, it looks like it actually curves inward. The prognosis for this condition is bleak. He immediately asked to set us up with their palliative care team. They work with families whose child's life expectancy is less than 5 years.
PCH is a genetic issue, so we met with a geneticist to do some testing (exome sequencing) and see if we could determine which type of PCH she has. All those tests came back negative for any known type of PCH.
We immediately started weekly physical and occupational therapy. Madi began to do all the things we weren't sure would ever be a reality for her. She sat at 14 months, started crawling at 20 months, speaking in simple sentences at 3, using a walker at 3, speaking in full sentences (that others could understand) at 4, and continues to astound every doctor she meets. Her medical file actually says "exceeds all expectations".
Since my last post- oh, about 2 years ago- there have been some new developments.
Somewhere along the way we realized that Madi just doesn't fit her diagnosis and began to do more research. We wanted a better idea of what was in store for her and for us. Butch came across an article (https://goo.gl/WbTL9r) about a Chinese woman who went to the ER with flu like symptoms and it was discovered that she had no cerebellum. She didn't walk till she was seven, didn't talk intelligibly till she was six, and had difficultly walking steadily her whole life. We were struck by the story and tried to get in contact with a specialist mentioned in the article. In short, we were eventually directed to a neurologist at John Hopkins in Maryland who specializes in the cerebellum. He believes that Madi likely has cerebellar agenesis caused by a stroke in utero.
So is it PCH or cerebellar agenesis? We don't really know and without doing an entire genome sequencing (mapping her entire DNA) we may never know if her condition is genetic or spontaneous.
This summer, Madi threw us another curve ball. We noticed that when she was hot, only one side of her head would sweat and turn red. She had a very distinct line separating one side of her face from the other. After our annual visit with the neurologist we discovered she has Horner's Syndrome. Thankfully, it is not serious, just one more condition to monitor.
Currently, she is in pre-k and doing great. She is learning, playing, and making new friends. It is a joy to watch her interact with her peers and it is the highlight of her day.
If you have met Madi, you have met one in a billion or trillion or gazillion. I don't know if there is number high enough. She is truly one of a kind. She charms the socks off of anyone she meets, and her smile lights up a room. She is funny, ornery, and the cutest kid you'll ever meet.
Our love for this girl is immeasurable.
