Please know that I am laughing as I type this email. I don't want anyone worried that I really am about to have my nervous breakdown. Maybe me laughing about all this is actually one of the beginning signs of my nervous breakdown. I always wondered what that one thing was going to be that pushed me over the edge. Ya'll hang on tight to me when it happens ok?! Don't let me fall!!! This email is going out to several of our list. I apologize for typing one long email to cover everyone.
Summary of this email: According to Abe's muscle biopsy done by Dr. Shoffner, Abe does not have a mitochondrial disease. He has an extremely rare something (disease or syndrome - I am sure he said but I cannot remember) that Dr. Shoffner has never seen in all his years. There is one other case in Boston. He has contacted his colleagues all over including internationally. They are all intrigued and willing to help name this. Oh yes it doesn't even have a name. Remember I am laughing why I type this.
I summarized this email for those of you that are interested in just the basics. OK for those of you that want to read my much needed ramblings please continue with this email.
Today we met with Dr. Shoffner. who is internationally recognized for his research in rare diseases. People from all over the world travel to see him and have him do their muscle biopsies. We only had to drive 1 hour. The best part is that now Mo is with him. Ya'll remember Mo who was in the NICU with Abe when he was born. Then the day Dr. Holt told us Abe was indeed having infantile spasms she walked in the room and told us she was with Dr. Holt. Now in hopes of helping Abe and other children she is working with Dr. Shoffner.
We or I went in there today expecting answers. I have way thought he would say Abe doesn't have a common mito disease but I do think it's some type of mito. Then I fully expected to get a direction and answers as to how we could help Abe. He has been having seizures non-stop for over 2 days. The moon yes, the weather yes & the 5 teeth he is cutting yes. I know all those play a huge factor with him and I continue to remind myself that this too shall pass. So as we sat there we got none of the above.
Dr. Shoffner said as you know we have found large amounts of tryptophan in Abe's urine. He continue to tell us that what they have found with Abe linked to the tryptophan he has never seen before in all his years. He said it's all very serendipitous. That sounds so nice doesn't it. Reminds me of a Lifetime movie. Not sure who I want to play me but I want Sean Connery to play Mike. Just a few days ago Dr. Shoffner received a call from a friend of his who is a specialist in Boston. He asked Dr. Shoffner if he had ever seen a patient with this tryptophan problem. Dr. Shoffner said yes just a few weeks ago. Again he said very serendipitous. While they sit intrigued we sit in shock, I think. I think that's one of the feelings I am feeling now. Several times throughout our meeting he said I hope I am getting my point across about how extremely rare this is. He said you are an extremely rare family. OK you know I am perfectly fine with common. A common cold, common symptoms, common anything.
He asked us what led us to have more children after Mary Elizabeth. Mike explained to him that we wanted more children and there was no reason not to. No one had ever made us aware of a reason not to have more children. I went on to tell him that we were told Mary Elizabeth's mitochondrial disease was a sporadic mutation. I realize that a lot of people think we are crazy for having more children after the first one. There are some people that wouldn't have. Then we went on to tell him that when Michala was diagnosed with Aicardi syndrome we were told that it didn't happen more than once in a family. Plus my wonderful friend MaryEllen said we had to have another child. Then Marlee Anne is born and we thought WOW we can have a typical child that is healthy. Why not have another one? Right? OK ya'll don't have to answer that. I know and have been told by some of my closest friends that they thought we had totally lost it when we told them that we were having another baby. He asked if none of the doctors or geneticist we had seen had never told us not to have more children. No we were never told that. However I want to share now that I fully believe everything happens for a reason. I fully trust and believe this children are God's children created perfectly. Maybe not in the medical eyes, maybe not in society's eyes but in the eyes of us and those that love them they are perfect. We did tell him that had we known we would not have had any more children. We would love not to have the medical, financial and emotional burdens that we deal with daily because of their disabilities. I think of our life without them and realize how unfulfilled and empty it would be. It would have been a mistake for us to take all that into our own hands. So here we sit with our extremely rare family. LOL!!!
OK if you have gotten that far please continue to read this or come back to it at a later time. It is really quite humorous and the reason that Kim & Kendra will never again call us and ask how our appt went. I threw up on them with all of this within a matter of minutes. I was so hoping that would help me process it. Laughing now but don't expect that tomorrow or don't be surprised when it hits me & I am crying about it all.
Well they had just moved into a new office and today was the first time they were seeing patients there. It's a great location, great set up, very nice, clean, comfortable and welcoming. Yes I realize we were going to a doctor office and I am not sure what I just described. We walk in and Dr. Shoffner calls us right back. He goes over everything with us, checks Abe out and we go out to wait for the labs. Michala gets called back first. Carla is the phlebotomist and is wonderful! Last time she took blood from Mike & I and neither one of us felt it. Well that's not Michala's problem. Michala's problem is that she hates to be held down ever since she was held down for chemotherapy access. So Mike takes her back. While she is screaming in the back, yes we can hear it all the way to the front of the building. I bet their neighbors are thinking WHAT just moved in next door. Any way while she is having blood drawn I bag Abe to get his urine. The diaper I take off is soaked so I think it will be a little while before he goes. As soon as I get the bag on he goes so much that it overflows the bag and gets his pants wet. I didn't even have a change of clothes for him. I just lose it right there. I start laughing hysterically. I know the mom is thinking oh my I am about to see a real live nervous breakdown right here and now. Good thing is that mom probably wouldn't think anything of it. I pick him Abe and head to the lab to get a specimen cup. I go to the next room and get the urine from the bag in the cup. Then I am thinking ok I need to get this back to the lab, clean Abe up, clean me up and the room we were just in. I walk back to the lab and Michala is still screaming, flailing about, grabbing Mike, pink tape all around one arm & really giving Carla fits. Give Carla the urine and go to get the room cleaned up. Mo sees me and says no she will get it.
I get back out to the waiting area and sit down on the verge of tears. I just know something is going to trigger it. I had already cried a little when we were in with Dr. Shoffner. As I was sitting there holding Abe while Mary Elizabeth is singing and laughing. Yes she knows nothing is going to happen to her today and she is so very happy. In walks a couple with a special needs child in a wheelchair. The mom sits down and goes oh my look at that double wheelchair I have never seen one of those before. LOL!!! We are used to looks and stares from most people but from them. No I am only joking she was very intrigued by it. Mo even asked if she could bring a mom to see it.
Mike walks out and his neck is bleeding from Michala clawing him while he tried to hold her down for blood work. He said good thing she battled cancer when she was young cause going through chemo now would be really rough. Mo comes out with scratches all over her too I think. She looks at me and says you ok. I honestly say no, no I am not. She says you want some water. Well I crack up. I said Mo water is not gonna do it. She laughs and still hands me some water.
Michala is grabbing at her arms. Yes arms. Carla had to stick her 3 times to get all the blood they needed. Michala kept getting mad and tensing up and she would blow the vein. Mary Elizabeth is still laughing like na na na boo boo and singing to the top of her lungs. Mike said I am taking these two out to the van. Marlee Anne waits with me.
In a little while Carla calls us back for Abe's labs. As she is prepping Abe she says now this is Marlee Anne. I said yes. Marlee Anne goes why. She said well I need to get blood from you too. Well Marlee Anne's face goes white. I really think she is about to pass out. Then she starts sobbing. I mean boo hooing. We get Abe's blood drawn all the while Marlee Anne is crying and trying to figure out a way to get out of this. My phone was in the bag when Mike took the girls out. I can't even call him or send a message to ask everyone to pray for her. I just pray harder with her.
When Carla gets done with Abe she tells Marlee Anne she needs her to give her a sample in the cup. Marlee Anne jumps up and says oh I can do that I need to go. Well we go to the restroom and Marlee Anne does a great job. I am about to bust but remember Mike took the girls out and I have nothing for Abe to be in. I ask Marlee Anne to hold him. She tries but he is too heavy. As I sit on the potty holding Abe, Marlee Anne says you should have taken us out to sit in there chair right out there. The mind of a child. She was so right. Instead I am holding Abe while I potty. I finally get my pants pulled up but Marlee Anne has to zip them. Wash up, grab a paper towel to get the specimen cup and head out. As soon as we walk out the door Mo is there and says oh ya'll still here. I give her the look and say don't even go there.
We go back in and Marlee Anne sits down like such a big girl. She did an amazing job. One stick and she gets 3 vials filled up. She bleeds really fast like her daddy. I was so incredibly proud of her. She was so excited to show her daddy her smiley face bandage. Didn't even get a picture of her first time giving blood.Still not too sure she will be a blood donor. She said that if it will help other people she will do it.
Our plans were to go have a nice supper before heading home. Well the screaming, crying, laughing and the seizures changed those plans. Mike did stop by Cheesecake Factory for take out cheesecake and coffee. YUM!!!
We get home and I get my H1N1 vaccination. Everyone had already gotten theirs so I was glad to get mine out of the way. OK as if all that wasn't enough for one day I remove a child proof outlet cover and blue sparks fly. Then the TV, TIVO and Abe's feeding pump stop. Mike checks the fuse box and nothing is tripped. I put the cover back on and everything comes back on. Not the way that should happen. We get in touch with Uncle Roy and he says do not use that outlet tonight. WHAT? NO TIVO? That's one of my things in life that I would have to try very hard to replace right away if something happened to it. I only have about 5 "things" that are that way and that's one big one. So Mike brings in a HUGE orange extension cord and runs everything into that. LIFE! Sometimes you just got to laugh about it.
If ya'll made it this far through these heart ramblings of mine then thank you. Thank you for trying to understand and walk this journey with us. Thanks for your continued prayers and support.
With love & gratefulness
mommie 2 4 incredibly rare and beautiful angels
married to an extremely rare angel (I truly mean that)