So, to get things started... Logan was diagnosed with Sanfilippo Syndrome on January 16, 2010. We knew there was something going on with Logan when he was about a year and half old. It wasn't difficult for us to figure out because he has a twin brother, Austin, and an older brother, Aiden. We could compare them and see that Logan was falling behind.
First it was nothing. Logan was completely normal from 0 to 12 months, reaching all of his milestones on time. We thought we had a perfectly healthy little boy! When Logan was about a year we noticed that his stomach would get really bloated. At the end of the day he looked like he was nine months pregnant. We went to many G.I. appointments to try to figure out what was going on. After many tests and an endoscopy, to our dismay, we found nothing. Our G.I. doctor was stumped. At about a year and a half we were worried because Logan was not talking at all. So he started speech therapy. It didn't help with his speech at first, but it changed his behavior drastically. We learned different ways to communicate which helped relieve some of his frustration. Soon after this we noticed that he was very unsteady when he walked, so he started physical therapy. The physical therapy helped him a lot, but still didn't help with his unsteadiness so much. His doctor suspected inner ear issues and referred him to an ENT. It turned out Logan had so much fluid in his ears he could not hear well at all. No wonder he was so unsteady on his feet, he was probably dizzy all the time! The ENT had tubes put in Logan's ears. It was a like a miracle. He started talking and he walked without falling down and running into things. It was great! So all of Logan's problems were solved! Not really, he still had the belly problems, and we were on a mission to figure out what was causing it.
Logan's doctor decided it was time to see a geneticist. Even though he was using words and walking great, he was still behind. The geneticist ran a lot of blood tests but didn't find anything, so she ran some more blood tests and a urine test also. She said it would take 3 to 6 weeks until we got results.
January 16, 2010. I will never forget this day. It was like any other day. The boys had just finished eating dinner when I got the phone call. Billy took the kids in the living room so I could hear. The lady on the phone said that she was from the geneticist's office, and she had the results from Logan's labs. She told me that Logan has something called MPS. They were pretty sure it was Sanfilippo Syndrome but they needed a skin biopsy to be sure. She went into a little bit of detail about the disease and kept pausing to ask if I was alright, I found that odd because the way she was talking it gave me the impression that we could fix this problem. By then I had moved upstairs into my bedroom because lets face it, boys are loud! There was a long pause and then she dropped the bomb, "Mrs. Pacl, you need to know there is no cure for this disease and it is terminal." I have never fainted in my life, but I thought I was going to right then and there. Billy walked into the room and it probably only took one look at my pale face to know that something was wrong. The lady talked for a little longer, I still have no idea what she said I didn't hear a word of it. I got off the phone as quickly as I could because I was going to lose it. I think I had a panic attack after I got off the phone. I was trying to explain to Billy what she told me, but I think I was pretty incoherent. It was like something inside of me had died. I had Logan, but it felt like I had already lost him. Someone just told me my son was going to die early, and there was nothing I could do about it.
Billy and I were devastated. For about three days after I think I actually grieved. Not so much for Logan himself, but for Logan's future, our future. Logan was never going to be able to go to school with his twin brother, he was not going to be able to play sports, or go on joy rides with his brothers. His life was going to be replaced with pain and endless doctors appointments. The third day I snapped out of it and decided it was time to do some research. There may not be a cure for this disease but there had to be some way I could help him! I went to the MPS Society website and got a lot of information. I came across a tiny little paragraph saying they have done something called stem cell transplants for Sanfilippo kids but they were unsuccessful, so I put that out of my head. I did a lot of goggling and found two people. Two people that I will always be thankful for, because if it was not for them I would have never known how much a stem cell transplant can help. These two people both had children that went through this procedure and they both gave me contact info for the doctors and Duke University. I contacted them immediately and the process started.
It has been six months since Logan's diagnosis and Billy, Logan, and I are in NC getting ready for Logan's stem cell transplant. Aiden and Austin are back in TX with mom and dad. I can't even began to tell you how hard it is to be away from my boys, and for so long. It's heartbreaking. But I know at the same time this has to be done, I have to try to give Logan a better life. The stem cell transplant can greatly improve Logan's quality of life. The transplant can stop all the physical symptoms of Sanfilippo and help with the behavioral and sleeping problems. It wont help with the cognitive issues though. That's why this disease is so bad, nothing is able to pass the blood brain barrier. The procedure is very risky, it's damn right scary when you read all the consent forms and every other line you see the word "fatal." But if there is a chance that we can give Logan a happier, healthier life, you can bet we are going to do it!
As of right now, Logan is getting his central line put in and will be admitted on July 6th. He will start chemotherapy on July 7th. And on July 16th, exactly seven months from his diagnosis, he will get his transplant!
I have learned a lot in the past six months. I know now that I have to live in the moment, which isn't easy for me. I will cherish each little memory I have with my family and of course take lots of pictures! I have learned to have hope and to be a stronger woman.
Eleanor Roosevelt once said, "you gain strength, courage and confidence by every experience in which you really stop to look fear in the face.... you must do the thing which you think you cannot do."
