Wednesday, May 30, 2012

Have a cookie or three...

Chris got these cookies from a friend last night. Normally this type of cookie wouldn't even come into our house. You know the kind- cheap ingredients you can't pronounce, the crazy fake colors, the high fat and sugar. They sound more like a science experiment than something you would eat!

They wouldn't enter the house, let alone our son! 

Well that was a month ago. Since being diagnosed, barely over a month ago, our child has probably eaten his weight in cookies. He's driven the car on Chris' lap up and down the driveway, we let him stay up past his "bedtime", we've cut him some slack on his vegetables.

Our parenting style has really changed, things that used to seem so important seem so trivial now. 

We took everything so seriously, he's cloth diapered because it's greener and we didn't want anything fake next to his skin, he eats like 90% organic, we'd sneak pureed veggies into his meals, and made him eat regular veggies too! (how awful of us!) I nursed him for 16 months to help him grow healthy and strong. We did "baby lead weaning". He would never go outside without sun screen, sun glasses, a hat, We even make his soap and shampoo ourselves to avoid artificial chemicals on his delicate skin. We only use special (and gosh expensive!) delicate/natural clothing detergent, green cleaning products for around the house, we don't even own fabric softener.  We didn't really let him watch any TV. We did baby sign language (he could do 50 signs) and did animal, words, shapes, numbers, and letter flashcards. We own enough "learning games" to open up our own store. 

You name it, if it's "crunchy" or "green", or "educational" we probably did it(or still do it). Just like any parent, we wanted to protect him from any possible danger, we wanted him to grow and thrive in both body and mind. I wish we could have protected him from this.

 So for now, if you're looking for us, we'll be sitting on the couch, eating cookies and icecream and watching episodes of Curious George.

Tuesday, May 29, 2012

How it all started part 3

This has been the hardest post to start writing. 

This is when we lost all the dreams we had for Oliver's future.

Oliver's blood was drawn to tested for muscular dystrophy on a Monday afternoon in April. Our pediatrician had looked terrified when she watched Oliver try to pull himself up and walk. We left the office and drove home in a daze. We took a walk around the neighborhood with Oliver in the wagon. I could hardly walk, my son was going to live a life of pain and die before age 20. I was a walking zombie.

The next morning Chris got a call from the Dr ecstatic saying that his TK levels were normal, he didn't have MD. I almost dropped the phone when Chris called me to tell me the news, I was so happy. Our appointment to see the neurologist was 2  days away, we'd get more answers then. We saw a glimmer of hope, maybe it was something that could be corrected. A tethered spinal cord or a small tumor, surgery could correct those things, we clung to those ideas.

Thursday came and we saw the Cheif of Neurology, Dr. Ascadi, he exaimed Oliver and didn't think it was MD either because he wasn't "floppy" and had a good deal of strength in his limbs. He admitted us to the hospital because he was nearly certain it was a spinal cord issue. He put the surgical staff on call and ordered a spinal MRI for Oliver.

The MRI showed nothing. We had desperately wanted it to show something. If it wasn't an issue with the spine, it was likely an issue with the brain. That we couldn't handle.

The Dr. didn't want to put Oliver under anesthesia 2 days in  a row, so instead scheduled us for an out patient MRI for the brain a week later. Spring break was over and we went back to school. It's pretty impossible to teach when you're thinking about possible problems with your son's brain.

April 26th came, the worst day of our lives. He went in for the MRI, came out to recovery, woke up and we put him in the car to take him home. The MRI tech had said we would hear from the Dr. in a few days.

 Only a half hour away from the hospital we got his call. He asked us if we were driving and we said yes. I knew instantly that meant it was bad news.We asked him to please tell us. "We know the cause of your son's walking issues. He has leukodystrophy, a disease of the white matter of the brain." He said a few other things about how some are treatable and most are very serious and just by the way he said it, I knew the kind he thought Oliver had fell into the latter category. He also said something about scheduling for a blood and urine test to confirm which type he had and then the call was over. Within seconds I was on my iphone and I googled leukodystrophy. What I found was horrific, unimaginable. Chris in his shock managed to say "Is it worse than muscular dystrophy?"  and I could only reply "Yes, much". We never knew a disease so awful could exist.

Saturday, May 26, 2012

How it all started Part 2

 We started getting worried when the Pt he was seeing mentioned getting foot braces to stretch his heal cords. I came home from that appt and went online and started some research about the braces. The only children that seemed to have them had some serious neurological problems, like cerebral palsy and muscular dystrophy. The more I (katie) researched the more sickened I became, he had nearly every sign and symptom of muscular dystrophy. The life expectancy was less than 20 years old, complete loss of muscle control. I was terrified.

 Two days later, we brought Oliver for his 2 year appointment with his pediatrician. The nurse comes in and does his weight and length, and always asks "Is there anything specific you'd like to talk to the Dr about?" and we told her about how he'd being doing PT and his walking wasn't getting any better and how we were starting to get worried. We said we'd like her to refer us to a neurologist to check him out, just in case.

His Dr. came in and watched him try to stand up from playing on the floor, it was very difficult for him. She watched him try to walk to us from across the room, also very difficult for him. I asked her if we were rightfully worried about something serious like MD. She looked at us with complete seriousness and said "Yes. I am quite worried." I almost passed out. She left the room to make a phone call right away to Children's Medical in Hartford to get him in to see the neurologist as soon as we possibly could, it could sometimes take 3-4 weeks to get an appointment. It was Tuesday and she somehow got us in to see him on that Thursday. In the meantime she sent us directly to the hospital to get his blood drawn to test his TK level. This would measure the amount of muscle breakdown and was the #1 indicator of MD.

Friday, May 25, 2012


Thank you SNIS friends for your extreme generosity. Oliver loves this truck (as you can tell by him kissing it!)

On the way to daycare today we saw about 18 trucks, I know because Oliver shouts "Truck!" at the top of his lungs any time he sees one. Only in his world, truck starts with a "C". It causes some odd looks in public.

How it all started Part 1

Oliver was the perfect baby, he was worth every minute of the 40 hours of labor it took to have him. He slept well, ate well, grew well and met every milestone right on time. He smiled, laughed, rolled over, sat up, crawled,self fed, all on time. We never worried, not even for a minute, he was simply perfect.

Until it came to walking.

Oliver started cruising around on the coffee table and couch around 12 months, but was reluctant to take steps on his own without support. It was early yet, so we didn't really worry too much. Last summer he started taking steps by himself, and everyone warned us to "Watch out, he'll be all over the place now!" Unfortunately that never happened. From 16-22 months Ollie continued to struggle with walking. His legs seemed very tight, his knees didn't seem to bend the way they should, his feet pointed outwards and he had a very wide based gait. Everyone we talked to, including Drs seemed to think it was related simply to his joints and muscles. We knew at this point he was behind, but we still never worried it was something serious. We thought one day he'd just be more comfortable, and confident and truly take off. Until we lost our son Miles. We lost Miles on January 13th 2012 from multiple brain abnormalities and hemorrhaging. Dr.'s never pinpointed the exact cause, and the amnio came back clear of genetic anomalies, though it would never test for something as rare as MLD. We will never know if he also had it. (but in my heart I think he did)

As soon as we lost Miles my mind automatically went to that scary place. "What if something is wrong with Oliver's brain too?" So at 22 months we brought him to a pediatric physiatrist in Danbury who specializes in walking and movement in children. He diagnosed Oliver with tight calves, loose joints and low muscle tone. He prescribed PT 2x a week and would reassess in a few months. We asked him what would cause these things, and he said that it's just how some kids are. We asked if it could be neurological and  he said "Very, very rarely."

We started PT and had great hope that now everything would be okay. We were getting him all the help we could get! Oliver started Birth to Three PT a few weeks later. We signed him up for gymnastics and swimming to help with the low tone. We'd offer him cookies to get him to talk independent steps across the kitchen and house. We went to the park almost every day and practiced walking up the steps and climbing around. It broke my heart to see the other kids his age running and jumping all over the place, we realized that people truly take movement for granted. Why couldn't our son walk? Other moms would see him struggling to walk, holding our hands for support and ask us "Ohhh, just learning is he? How old?" we'd reply and sometimes they'd say something like "Well, everyone learns at their own pace. He'll get there!" or something along those lines and we'd hope they were right.

  Despite it all, we noticed his walking was only getting worse. How could this be? He could want so badly to walk to us, just a few feet away, and he would try, but his knees would pop backwards, he'd lose his balance and fall on his tush. Over and over and over again. He would cry and get frustrated and after all the falling was reluctant to keep trying because he was afraid.

Current Meds

Oliver is back on the baclofen muscle relaxant to try to stop his legs from being so stiff. It can take a week or more to start having an effect. He also started Kepra, an anti seizure medicine, after he had a seizure at daycare on Monday. Both of these medicines cause drowsiness and weakness, so Ollie is a big lump of sleepy toddler right now and is having trouble even sitting up straight. The Dr. said that this should only last a week or two until his body grows more accustomed to the medicine. Let's hope so.

Thursday, May 24, 2012

Here is a link to news video from last week. It is incredibly sad, about a little boy with MLD who lives in Georgia. I've actually been talking to his Mom through an MLD online support group.

 Their story is nearly identical to ours.