Seattle

We live in the Washington DC metro area and have very good hospitals and doctors here.  Callie's first pediatric neurologist at Children's National Medical Center (CNMC) was very experienced with over 30 years under his belt.  At one of our first appointments I asked how many PMG cases he sees and he said the practice as a whole only sees two or three a year(!).  Around that time it hit me how very rare this disorder is.  I had so many questions about what to expect with Callie's development and her future, and I really wanted to talk to a doctor who was more familiar with PMG.  

I began searching for such a doctor and only found one in the entire country.  Dr. William Dobyns.  I joined the one single online group for PMG parents and his name came up in the posts over and over again.  It seemed clear that he was THE doctor.  Unfortunately he was located in Chicago.  I placed a call to his office anyway thinking I would find a way to get Callie to Chicago.  Just my luck they told me he was getting ready to move to Seattle!  I decided I did not care and would take her anywhere.  I was placed on a wait list and then was eventually able to get an appointment for her at the end of October.  

Five months was a long time to wait, so in the meantime I was also able to get Callie an appointment with Dr. Eric Kossoff at Johns Hopkins for a second opinion.  We are lucky that John Hopkins is nearby and they are #2 in the nation for pediatric neurology.  I figured they would definitely be more familiar with PMG and at least I could get some answers while we waited to see Dr. Dobyns.  I was very disappointed to learn that even Hopkins only sees a few cases of PMG each year.  It was hard to understand how that was possible, but at least we were able to meet with another neurologist and get a fresh opinion.  He agreed with Callie's original diagnosis and treatment, and gave us his opinion on the next treatment options if Topamax did not work out.  He felt vigabatrin should be the next drug or we could consider the ketogenic diet (an extreme high fat, low carb diet that helps to control seizures in some people).  He advised we should return to Hopkins if we ever decided to try the keto diet and later I figured out why.  It turns out Hopkins is the premiere center in the world for clinical and research expertise regarding the ketogenic diet.  Dr. Kossoff  is the medical directer for their Ketogentic Diet Program.  So at least I know where to go and who to see if we decide to give the diet a try in the future.

I ended up being able to get a third opinion in early October because we officially switched from our neurologist to Dr. Philip Pearl at CNMC.  I had heard great things about him from a friend of a friend and then when I was able to work with him briefly in August (when he was the backup neurologist who put Callie back on prednisolone which immediately stopped her IS), I knew I liked him.  He seemed like a better fit for us and I was able to arrange the switch without too much of a problem.  During our first appointment with him I knew it was the right decision.  He was great with Callie and the appointment felt so much more personal.  His opinion was essentially the same although he seemed a little more optimistic about Callie.  He was pleased with how alert and attentive she was.

Finally the end of October arrived and it was time to travel to Seattle to see Dr. Dobyns.  I was so nervous and excited. I took Callie by myself because it was not worth flying four of us across the country to Seattle in October.  Maybe if the appointment would have been in Mexico, but not cold, rainy, dreary Seattle.  Callie and I arrived a day early and enjoyed touring the city and taking in all of the sights (luckily the sun came out for one afternoon).  We explored the Pike Place Public Market and the Waterfront.  That evening we took the monorail to the Space Needle.  It was a great day!  

Callie & I at the top of the Space Needle:

The next morning I was really nervous.  We took a cab from our hotel to the hospital and made it with plenty of time to spare.  Those who know me know I am always late.  It turns out I could have been late for this appointment because we ended up waiting for an hour and a half in the waiting area.  It was finally our turn and before I knew it we were sitting in a room face to face with Dr. Dobyns.  And he was wonderful.  All of the effort and expense it took to be there that day was worth it.  He spent two full hours with us carefully examining Callie and patiently answering all of my questions.  

I really wanted to know his best guess prognosis for Callie.  That is really why we had traveled all that way.  He said he felt she looked good considering her MRI and bad diagnosis of both PMG and IS.  He thinks oral motor problems will be likely.  This might mean drooling, eating, chewing, swallowing, and/or speech, etc.  Callie may have oral motor dyspraxia (unable to coordinate and/or initiate movement of the jaw, lips, and tongue on command).  Many PMG kids are non-verbal and this is somewhat likely to be Callie's case.  He went on to say she might also have trouble with some fine motor skills (like clumbsy hands, which may mean sign language could be difficult for her in the future which will be unfortunate if she is non-verbal).  Overall, he said he felt we can be cautiously optimistic.  He said she will have issues, but most likely they will not be severe.  He explained he felt this way because Callie looked alert and attentive, and her tone and movement was good.  Also, her head size is correct (small, but within range) and about 25% of her brain is impacted by the PMG (not great, but it could be worse).  These are all good signs.  He could not stress enough that we must be aggressive when it comes to seizure control.  He urged me to consider talking to Dr. Pearl about switching to vigabatrin to help ensure the IS stay away.  He suggested using vigabatrin for 4 - 6 months and then switching to a long term drug.  He said to push therapy hard and hopefully we will see good development in the next 6 months if the seizures stay away.  

As hard as it was to hear Callie may not be able to speak, I left the appointment feeling good, relieved, and cautiously optimistic.  Even if the future is hard, having a better idea of what to expect makes it less frightening.  I am so glad we made the trip.