Time

Time seems to be speeding ahead and we are struggling to keep up. I wish I could stop the days, weeks and months from going by so that my baby wouldn’t slip farther and farther behind. My patience is non existent these days when it comes to watching my son struggle. Our happy little guy seems to be frustrated and upset more than he is happy and content. He looks at me some times and I know he is just confused as to why his body won’t cooperate with what he wants to do. Therapy is something I cringe at these days because we don’t seem to be getting anywhere. Marek cries through PT, is mute during Speech and falls asleep half way through Vision. We just want to be able to PLAY with Marek, do things that make him laugh and act silly with him but instead we have to force him to do exercises that make him scream. I’m afraid that Marek will think of me as a mean mommy when he grows up because I am the one that is making him cry day in and day out. It’s overwhelming to say the least. However, what I have realized through this journey is that I can’t dwell on the negatives. I’m human, therefore I can’t say that I am immune to them, they definitely get to me. I have my meltdown, sometimes when I least except them and in the most public places. No matter how crummy the day is I always go to bed believing that tomorrow is a new day.

UPDATES:

Marek saw the ENT in mid October and we decided to hold off on putting tubes in for the fear of putting Marek through anesthesia until he has another ear infection. Our hopes were that he wouldn’t have one for quite some time. Well, the very next week Marek started pulling on his ear and it was confirmed he had another ear infection in his left ear. Marek is scheduled to have his tubes put in on November 18th. We are hoping that him not being sick and agitated will help with his therapies. 

When we went to the doctor’s office to get Marek’s ear checked out I was surprised at Marek’s weight, he was 23 lbs. The last time we saw the neurologist, back in June he was almost 28 lbs. Ryan and I became concerned because all anti-epileptic drugs are based on weight, so Marek’s dose of Sabril had slowly been increasing due to his weight loss. I called the neurologist to discuss this and after a long talk and weighing our options we have decided to start weaning Marek from Sabril. We weren’t going to start talking about a wean until December but with his weight loss the Neurologist wanted to start now. He was very stern on the phone when he said this will be a VERY SLOW WEAN. We will go down 2 mLs every three weeks which will take us close to a year to get him off of Sabril. We are glad we get to start weaning this drug and I personally am thankful that it will be a slow wean because I am scared to death of the seizures returning. 

Although times have been tough lately we are so thankful to God that we get to celebrate Mareks 5th month of seizure freedom. I hope and pray that we never see these monsters again.

Back in July the hospital took blood from Marek, Ryan and myself and sent it off for genetic testing. We were told that we would get the results in December. I was surprised when I heard from our genetic counselor that the results were already in. She  told us that the results were normal (Marek did not carry any of the epilepsy genes) however they did find a deletion on the GALC gene and they would like to do further testing to rule out Krabbe disease. The counselor said this in a very “no big deal” voice. She didn’t go into details about the disease or tell me much about this specific gene and what it does. So I got off the phone thinking “WOOHOO!” Then I turned to Dr. Google to learn more about Krabbe disease and my heart dropped. The first link I clicked on this is what I read:

Definition

By Mayo Clinic Staff

Krabbe (KRAH-buh) disease is an inherited disorder that destroys the protective coating (myelin) of nerve cells in the brain and throughout the nervous system.
In most cases, signs and symptoms of Krabbe disease develop in babies before 6 months of age, and the disease usually results in death by age 2.

The day we found that out seems like a blur. I switched on autopilot and got through the day without a nervous breakdown. Since then Ryan and I have basically talked through every reason why Marek doesn’t have this disease and are holding on to those reasonings as we wait for the results of more thorough testing that was done on Marek earlier this week. We have contact the Neurologist in Detroit and asked if he has any reason to think Marek has Krabbe Disease based on the PET scan he ran on Marek back in July and he said he doesn’t feel he has it. We are being VERY OPTIMISTIC that Marek is just a carrier of this gene and nothing more.
As I was doing research on Krabbe disease the day we got the results I turned to Facebook to see if they had a support group since the one we belong to for infantile spasms is so helpful. They did. I started scrolling though all the posts and my heart ached for all the parents on that sight. I saw way too many “remembrance” posts than I could handle that day. Infantile spasms is an ugly beast but that day I realized that things could always be worse. My heart goes out to all the families that lost their little ones to Krabbe disease. I thank God every day, even on the worst of them, that I have my little guy in my arms to kiss goodnight.
We continue to work hard, pray harder and enjoy all the smiles and giggles Marek gives us.
I hope one day soon I can post a BIG MILESTONE but until then we will take our inchstones and continue to be grateful for the little things.