December 2012

Up until now, I have been back-tracking to fill in this blog from all of the information we kept in Tori's journal.  We are finally up to date!
Here is an update as to where we as now with specialists and Tori's development.
This month we started seeing a new neurologist. Sorry, but I just couldn't bring myself to trust the one that blew us off in the beginning no matter how hard I tried.  We are currently working on switching Tori's seizure meds- weaning her off of one while increasing the second.  This has made her a bit crazy at times- going through the withdrawal of one and being more tired when the other dose increases, but overall she is handling it pretty well.
We also had a swallow study done, since it is so common for kids with Lissencephaly to aspirate. Luckily, this is not occurring with Tori. Her study did show more reflux than we thought so she will be seeing a GI specialist in a few weeks.
We are also planning to see a developmental pediatrician in the near future.

As for her development, althoughTori has been cruising for months, she is not yet walking. She just can't seem to get the balance. We are in the process of getting her fitted for orthotics that will hopefully push her along. Just recently she has started getting daring and trying to take steps on her own!!!!! I see a busted lip in her future!
She is doing great with feeding. She can now self feed with her hands, and her latest "yay for Tori" moment was when she started bringing a spoon to her mouth!!! Some of the food actually stayed on too!
Tori doesn't speak any true words yet, but is starting to use momom and dada with purpose. She does seem to understand most of what is said to her and she can follow simple instructions.

Tomorrow we plan on taking Tori to see Santa (hopefully this year she will stay awake!) and taking her to pick out her first real Xmas tree.
-Tori's Christmas Pictures-

Getting On With Life...

We were home from Seattle with all of the information concerning Tori's diagnosis. What now?  Well, nothing really. We just continued to do what we had been doing for months. Not giving up on our baby girl.
We began to celebrate every milestone or improvement that Tori made. With all of the therapy she attends and how hard she is pushed every day, there has been a lot of celebrating! (And a lot of cake).
Things that other parents might take for granted or not think to be a big deal are huge for us. These are things like hitting a button on a toy, rolling a ball, reacting when she sees Elmo on a video, splashing in her bath water, laughing when mommy or daddy do something silly, and bringing a spoon to her mouth.
The best advice I have gotten to this day came from a mom I met in an online support group whose child also had Lissencephaly. She told me to push Tori as much as we can, and then push some more. Only Tori will tell us what she can and can't do, not any doctor.  So although some nights it just really sucks to have to feed Tori her dinner at daycare, take her right to therapy, and bring her home at night  when we are all completely exhausted, it's what we have to do, and will keep doing.
One thing I can say for sure is Tori is the hardest working little girl ever. She never gives up and if she can't do something, she will figure out another way get the same result.
I also have to add that we are so lucky to have such amazing therapists and daycare teachers that put so much into working with her every day.
-Some pictures of Tori and her celebration cakes-

At Seattle Children's Hospital...

I was warned before our trip that this doctor was very blunt and would not sugar coat anything. He would tell it like it's, good or bad, and whether you wanted to hear it or not. He also had the reputation of giving worst case scenarios.  That was all ok by us, we just wanted answers.
Some of the key points that we left with:
-Tori definitely has Lissencephaly
-She has a very rare, much milder form. In his database of 2200+, he has only seen 10-15 like her.
-She will probably walk, but quality is unknown.
-Speech delay will be significant. Most do not develop beyond single words/short sentences.
-It is his belief that she will always be special needs and need long term care.
-Seizures will be a major struggle.
-Lifespan should be well into adulthood.
-The cause of her Lissencephaly is from a gene that has not yet been identified, and so we have been enrolled in his research study to try to identify this gene.

Although this was much better news than they typical cases we had read about, and we were thankful for answers, it was all hard to hear...again. Any hope that the doctors had all been wrong was gone.

-Tori in Seattle-

Not out of the woods...

Just when life seemed 'normal' again, Tori had another seizure. Of course it had to be when I was again home alone with her. This time I administered emergency meds and she came out of it rather quickly. After a quick trip to the ER, Tori came home and slept it off.

Then, sometime in August, Tori began having staring spells, which we thought might be absence seizures. It was hard to say, since we had never seen these types of seizures, and with everything we've read about the diagnosis, it was hard not to question things that were everyday baby issues.
We were admitted for a 24 hour EEG in September. This had to be Tori's worst night of sleeping ever, and still is to date. Thankfully the EEG did not show any seizures or even seizure-like activity.

Those of you who know me well, know how I am. Since the first day of Tori's diagnosis, I spent hours on the web reading everything I possibly could about Lissencephaly. I had been trying for 2 months to get an appointment with Dr. Dobyn's of Seattle Children's Hospital, who is considered a world expert on Lissencephaly. I remember my hands shaking while I held the phone, when his office called to tell us they would see us at the end of September.
To date, none of Tori's genetic testing had come back showing any of the mutations that are known to cause Lissencephaly. This was our chance to finally get all of our questions answered.

-Daddy and Tori sleeping after her seizure-

-Tori at her 24 hour EEG-

Life After the Diagnosis...

The first few weeks were aweful. I just couldn't believe that this was happenning to my baby girl. The worst part was finding out that Tori could still regress if her seizures got out of control and lose all of the skills she has worked so hard on.  My time was divided equally between crying and researching non-stop to find out everything I could about the diagnosis. Damon still won't admit to it, but he was in denial. He developed the attitude that "there was nothing wrong," and "everything was going to be fine."
Over the next month, I started to think maybe he was right.  Could the doctors all be wrong? Yes, Tori was delayed but she still seemed so 'typical.'  She was nothing like what I was reading on the internet or what I was seeing in the support groups.
She continued to thrive and was learning to hold her sippy cup, eat table food, pull to stand, and start cruising.
Although she was doing great, we still weren't going to take any chances. We enrolled Tori in intensive therapy. She began receiving PT, OT, and Speech therapy so often that until we got used to it, it seemed like all we were doing.  As she continued to thrive, we began to question the diagnosis even more. We even took a trip to California, where we celebrated Tori's first birthday with Damon's side of the family!

What Is Lissencephaly?

What is Lissencephaly?
Lissencephaly, which literally means "smooth brain," is a rare, gene-linked brain malformation characterized by the absence of normal convolutions (folds) in the cerebral cortex and an abnormally small head (microcephaly). In the usual condition of lissencephaly, children usually have a normal sized head at birth.  In children with reduced head size at birth, the condition microlissencephaly is typically diagnosed.  Lissencephaly is caused by defective neuronal migration during embryonic development,  the process in which nerve cells move from their place of origin to their permanent location within the cerebral cortex gray matter. Symptoms of the disorder may include unusual facial appearance, difficulty swallowing, failure to thrive, muscle spasms, seizures, and severe psychomotor retardation. Hands, fingers, or toes may be deformed. Lissencephaly may be associated with other diseases including isolated lissencephaly sequence, Miller-Dieker syndrome, and Walker-Warburg syndrome.

Is there any Treatment?
There is no cure for lissencephaly, but children can show progress in their development over time. Supportive care may be needed to help with comfort, feeding, and nursing needs. Seizures may be particularly problematic but anticonvulsant medications can help.  Progressive hydrocephalus (an excessive accumulation of cerebrospinal fluid in the brain) is very rare, seen only in the subtype of Walker-Warburg syndrome, but may require shunting. If feeding becomes difficult, a gastrostomy tube may be considered.

What is the prognosis?

The prognosis for children with lissencephaly depends on the degree of brain malformation. Many will die before the age of 10 years. The cause of death is usually aspiration of food or fluids, respiratory disease, or severe seizures.  Some will survive, but show no significant development -- usually not beyond a 3- to 5-month-old level. Others may have near-normal development and intelligence. Because of this range, it is important to seek the opinion of specialists  in lissencephaly and support from family groups with connection to these specialists.

The Next 2 Days...

The next two days Tori got poked and prodded more than any baby should ever have to. The worst of it was watching them try to get IVs in her over and over again. It got to the point where I just couldn't stay in the room and watch her scream anymore.
Things started looking up on day two.  Her CT scan hadn't shown anything, chest Xray was fine, spinal tap showed no signs of infection, and her EEG was normal. The drugs in her system were starting to wear off and she more awake and alert than she had been. One last test, an MRI, was needed and we would be discharged.
By this time, Damon's mom had arrived in town, and stayed at the hospital with me while Damon went home to take care of the dogs.
Looking back, I guess I should have realized how serious the situation was when four doctors entered the room and pulled up chairs around us to talk.  They explained that Tori had a very rare brain malformation call Lissencephaly and would be started on anti-seizure medications immediately. We were being discharged and would follow up with a neurologist the next day.

-Tori while hospitalized after her seizure-

The Day Everything Changed...

June 12, 2012.
It was 5:00 and Tori was just finishing dinner. Without any prompting, she began clapping her hands.   This was another first! Just 5 days earlier she began to crawl for the first time. Life was good!
A few minutes after dinner Tori wasn't looking well. The only way to describe it was looking dazed and out of it.  I called Damon at work and told him something was wrong. Of course he had no idea how serious it was and just told me to call the pediatrician if I was worried. When I picked her up and could not get her to look at her reflection in the mirror I knew something really wasn't right. My first instinct was to go to the ER. As I ran around grabbing shoes and keys, Tori started vomiting everywhere. A few seconds later she went completely stiff in my arms and was unresponsive.
After telling the 911 operator my address, I'm not really sure what was said. I just kept watching to make sure Tori was still breathing.
I cannot describe how relieved I was when I heard the sirens getting closer. A male and female cop were the first to arrive. As he picked up Tori he quickly passed her to the female and said over his radio that the ambulance needed to hurry, she was barely breathing.  They believe she had a seizure.
By the time we arrived at the hospital, all of Tori's stats were back to normal and she appeared to just be sleeping, but her peaceful sleep didn't last long before she starting seizing again. This time her little arms and legs were twitching and she was drooling excessively into her oxygen mask. Tori continued to seize on and off for the next 4 hours. Doctors had already decided that she needed to be transferred to Children's Hospital but she was not stable enough to move. Finally, she was given a mass dose of Dilantin, which sedated her enough to make the trip.

From the Beginning...

Victoria Rian Eccleston, or "Tori," was born on July 19, 2011.  We were so lucky to have such a happy and easy baby. She rarely cried and began sleeping through the night at 8 weeks.
At around 4 months of age, we noticed that Tori always kept her right arm very stiff. After mentioning it to the pediatrician, she suggested physical therapy. Therapists quickly decided that Tori had increased tone and should attend therapy regularly. They also suggested a consult with a neurologist.
By the time of our neurologist appointment, Tori was around 6 months of age. The neurologist who examined Tori disagreed with the therapists and said it was simply her preference to keep her arm locked out. We should continue therapy, but no further testing was needed.


-Our baby girl-

-Tori at 4 months-

-Tori at 6 months-