Looking Back

As we come up on the 4 year anniversary of "the day that changed everything," I thought now would be a good time to look back.


When Lily's pediatrician told me she should go to see a neurologist to see if she needed to be fitted for a shaping helmet for her flat head, I think I cried. Pathetic now, looking back, but I was so scared for Lily, a baby helmet? Now I can look at that and laugh!  She never ended up needing that helmet, her head was fine after all, but it is actually comical to think that I was so shaken by such a small thing.  I guess I was again too naive to know anything.  I thought this neurology appointment was such a big deal, I made Jimmy, my Mom, and my mother-in-law all take the day off to come in to Boston with me for it.  Now looking back, it was the smartest decision I ever made, having them all there, with Lily and I.  Some greater power must have told me that I would need strength that day, and people to literally hold me up. 


I vaguely remember the seizure now.  All I really remember is the feeling of being panicked.  That literally everything else around me stopped and all I could see was Lily.  I don't remember the doctor who came running out of his office.  I do remember putting Lily down in the carriage, per the doctor's orders, as we took her to the ER.  I remember getting into the elevator and going legless, almost fall down legless, and I remember Kellie (my mother in law) grabbing me by the arm and telling me to "Pull it together right now."  It was exactly what I needed to hear.  I could feel my heart pounding out of my chest.  Why the hell was my 6 month old having a seizure?  I knew she didn't have a fever so it wasn't from that.  Was she epileptic?  Did she have some other seizure disorder? Or could if even be something worse?  I remember just spitting out her birth information over and over.  "3 lbs 5 oz, 16 in, NICU for 12 days; Couldn't maintain body temperature, jaundice, 6 weeks early."  Over and over again I said it to anyone that would listen.  They had to help my baby.


As I saw the doctors flood the room, one after another, IVs being inserted, blood sugars taken, blood being drawn; I thought to myself, "Why Lily?", "Why me?"  It would take some time, but soon I would know why it was us.  Why it was our team being chosen for this.


"Hyperinsulinism is when you can't maintain blood sugars.  We have 2 different medicines that we will give to her, and see which one works better.  You all should be home in 2 or 3 days." How wrong they were.  They started the first med right away.  It was called Diazoxide, and it would work to block the release of insulin.  By doing that, her block sugars should go down.  It was going to be a home run and we would be home in a couple of days.  Well, actually no, it was a major fail.  It didn't work at all.  "No problem," I was told, on to the Octreotide.  Octreotide is an injection that she would receive up to 4 times a day.  It works by decreasing the amount of insulin being secreted. Well quickly, we were up to 4 shots a day and at the hospital for well over a week at this point.  The Octreotide wasn't working.  Nothing was working.  Her blood sugars were still going dangerously low every time the doctors tried to turn off her IV sugar. Then, we heard about CHOP.


Children's Hospital of Philadelphia (CHOP) had the leading hyperinsulinism treatment in the country.  They could help Lily, and perform all the tests needed to determine if she needed surgery to cure her problem.  So the waiting game began.  We had been at the hospital for 2 weeks by the time CHOP was introduced.  Obviously, like any mother, I never left her side.  I wouldn't go to get food unless she was sleeping.  I didn't want anyone else to be sitting with my baby.  I didn't want anyone else to see her get her shots, or try to feed her, or anything else.  I was her Mommy and I wasn't going to miss anything.  A week went by after we heard about CHOP.  Lily was on MassHealth at the time and they didn't want to pay for her to go to CHOP because they didn't pay for out of state treatment.  4 weeks went by... Jimmy was still going to work daily, we needed money to still survive.  He was able to start the process to get her on his Harvard Pilgrim Insurance; but it was taking more time.  By 5 weeks of sitting in the hospital, her doctors had a proposal for me.  "MGH has a PET Scan machine.  We can take her over to MGH, and do the specialized scan.  We have a great pedi Endocrinology surgeon.  Though he was never done the surgery before, he is very capable."  And my response "No way!" and I cried for the first time during this entire ordeal.  I cried for Lily, I cried for me, I cried for this life of hers that was going to be nothing what I imagined it to be.  This surgery they wanted to perform on Lily for the first time, was removing 95% of her pancreas.  For those of you who are unfamiliar with what the pancreas does, well it does everything.  It helps with digestion, hormones, enzymes, tons of major body functions.  I am sorry but they could go find someone else's kid to be the guinea pig because it sure as hell wasn't going to be my kid.


Her doctors were amazingly understanding of my position.  They knew I had been so patient with this entire process and that we just wanted the best possible care for Lily. They went back, met with the Chief of Endocrinology (who was also coming to see us daily) and came back to tell me that they were doing everything in their power to get us to CHOP.  Dr. Dedeikian told me that he would pay for a cab himself to get us there and come with us to maintain her IV if he had to!  But a week later, we got the word, we were going to CHOP and the ambulance that would take us there would be there the next day.  FINALLY! 6 weeks in to our ordeal we were hopefully going to get answers.  6 weeks of Jimmy sleeping on a cot, and me cuddled up in the crib with Lily and we were finally going to get some answers.  Thank God!


So Jimmy hopped in to the ambulance with Lily, who was still getting Octreotide shots, in some hopes that they would miraculously start working.  He bravely gave her the shots she needed on the 8 hour drive down as the paramedics didn't have that med on their approved list.  I drove behind them (I needed a break! and I get terribly car sick!) and soon we were arriving.  Jimmy was staying at the Ronald McDonald house in a not so hot part of town, because only one parent was allowed to stay at the hospital.  I learned strength through him over the next few weeks.  We met Dr. Stanely (the hyperinsulinism guru) and his team and were reassured that we wouldn't go home without answers.  In order to understand her treatment, you have to know about hyperinsulinism or better known in the medical community as "HI."  HI can come in 2 forms, there is focal HI or diffuse HI.  In Focal HI, only a small, focal area of the pancreas is affected. The remainder of the beta cells in the pancreas are normal.  So basically, one part of the pancreas is making this whole blood sugar mess.  In diffuse HI, the entire pancreas is affected.  So CHOP did this special scan where they injected a dye, put Lily under  anesthesia and examine her pancreas.  If she had focal HI it would show just one part of the pancreas lit up on the screen.  Diffuse HI came back looking the same as a regular pancreas as it wasn't detected on the scan.  So what do you know, a normal PET Scan came back.  The next step was to do genetic testing as Dr. Stanely has figured out what genes are linked to the 2 different types of HI.  Well her HI genetic testing came back normal as well.  So what was affecting Lily's blood sugars so badly?


The next step was to send off a 21 genome chip to test for CDG.  CDG is an awful disease with an extremely high mortality rate.  So for a week, Jimmy and I sat there, wondering, waiting, praying, that she did not have CDG.  And thank God she didn't, but she did have Turner's Syndrome.  When I heard it was Turner's Syndrome, I was kind of relieved.  When you spend a week of your life researching CDG, which is basically a death sentence, and you hear it's Turner's Syndrome, anyone would understand my relief.  And better yet, there had been one case study done in the world that linked Turner's Syndrome to HI.  So now the question came; Did we want to operate or continue to medically manage her with a feeding tube and medicine?


NO BRAINER!  The surgery for HI to remove most of the pancreas leaves almost all the kids with diabetes.  Diabetes is such a serious disease, and some kids did grow out of hyperinsulinism.  We chose the feeding tube and medicine and it worked!  She could maintain her blood sugars if we made sure she ate at least every 4 hours during the day.  At night she was hooked up to a feeding pump and continuously fed formula through her feeding tube.  It was scary at first but became second nature to us and our families after a while.


During this time, I realized how important family was.  As bad as I wanted Lily to go to CHOP, I knew I was going to be so far away from our families who had been there every day. They were constantly coming to see us, bringing us food, clothes, anything we needed and now we were going to be 8 hours away.  I didn't know if I could do it without my Mom there every day, but we managed.  My mom and Nana made the road trip down to see us, and Jimmy's mom and brother came right after, then as soon as they left my Dad and Sue came, and even my cousin.  We were truly blessed to have so many people who loved Lily and loved us too.  They held me up at my darkest hour and told me that everything would be okay.  Things like this really put life into perspective.  I was taught to enjoy every moment with Lily, because for a time, we didn't know if she would be ours forever.  I look back at this time and realized that is when I got strong.  I had to be strong; strong for Lily, and strong for our families.  They were 8 hours away and loved Lily just as much as we did.  They needed to hear that WE all were doing well, because they wanted to be there for every single second, but they couldn't. When our Moms came down, we actually got to go out to dinner for a night and relax.  The only people in the world I would have trusted her with at the time were our parents.  My Dad and Sue came down and surprised us.  They came in just as my Mom had left, and I was missing her.  They came at the perfect time.

Moral of the story:  Life is short, life is fragile, and life goes by too fast.  As I sit here now its been 4 years since our ordeal.  Lily is off all meds and has her g-tube (feeding tube) out.  She is thriving and loving life.  I know that we were chosen for this as a team.  He chose Lily because it really does take a strong personality to go through this.  Her personality makes her 10 feet tall, and her smile is contagious.  She is my hero. It truly does take a village to raise a child, especially one with special circumstances, and I thank God every day for all of our amazing family members.  Whether it is helping getting Lily off the bus, coming to yet another appointment, spending insane amounts of money on gluten free food so Lily has something to eat at their house, or just watching the kids so Jimmy and I can have a night off, they are all AMAZING.  Some days are harder than others.  She came home from school the other day and said "So and so wouldn't let me in to the kitchen center at school today because she said I looked like a baby," and I asked her, "Well what did you do Lily," and she told me that she told the girl "I have a baby brother, I'm not a baby, I am a BIG sister."  With that personality and that spunk, anything she dreams WILL be possible.