I have been dragging my feet for a while on this update.
We have waffled so much with the decision to place a port a cath. Last week Mattie ended up needing an IV to maintain her blood pressure. After talking with her dysautonomia docs, we changed some protocols for treating her blood pressure. We upped her medication used to regulate her BP and also added more salt tablets. The protocol also called for an additional liter of fluids by mouth daily. Mattie only consumes the required amount a few days a week. Even with the suggested changes, Mattie’s blood pressure is still dipping into the low end of things. She is hitting IV levels at least once or twice a day. Adding salt has brought it up after the dips, but it is clear that more IV’s are in our future. We are giving her the maximum amount of salt a day, and have doubled the blood pressure regulation medications.
So what is a port a cath??? A port a cath is small medical appliance that is installed beneath the skin. A catheter connects the port to a vein. Under the skin, the port has a septum through which drugs can be injected and blood samples can be drawn many times, usually with less discomfort for the patient than a more typical “needle stick”.
Mattie will be having the port placed on March 16th at CHOA. We are planning on the surgery being an outpatient stay, but are being smart and packing bags.
Mattie will also be having a direct laryngoscopy and bronchoscopy to check out her airway. It is always nice when we can do a two-for-one sedation to minimize how often she is being put under sedation. Mattie has been having a lot of breathlessness with very minimal physical activity. They are doing the scopes just to make sure that nothing is going on besides just the typical mito muscle weakness.
Please also be praying for Steve. He had a spot under his eye removed a couple of weeks ago. The pathology report came back showing that is it a basal cell carcinoma. This is the most mild of skin cancers….but it is still cancer. The growth has been on his face for several years, and has been removed before. He will be undergoing the Mohs Micrographic Surgery on March 23rd to remove the remaining cancer.
I have a friend that is in need of prayers. I don’t think she is ready for her name to be thrown out there… but please add her to your prayer lists. She was just diagnosed with breast cancer. She is a young mom, and amazing lady. Cancer doesn’t know who it is messing with!
Thank you for keeping up with our updates and just loving our family,
PS. We will walking with the UMDF again this year. Keep an eye out for information on how you can donate or join our team to walk with us.
Hello again… I haven’t forgotten about you.
Mattie has been doing really well for a while. We have not used IV’s at home in a little over a month now. We have had a few labs come back abnormal, but nothing earth shattering. They found an MTHFR genetic mutation…… I am still researching that one.. but it doesn’t seem to be anything that will cause Mattie any major issues. We have added a new med that is given to everyone with the defect.
They also discovered that Mattie’s iron is low. She started supplementing this week and I hope that getting her levels higher will help with her energy level and sleep. She was diagnosed with periodic limb movement disorder after her last sleep study. The doc thinks the correcting the iron levels may also correct her movement at night. In addition to the movement, we added sleep apnea to her list. She is sleeping with c-pap and it has much improved her sleep. We now lovingly refer to her as Darth Mattie.
Mattie is continuing to struggle with breath support and temperature regulation. I am really at a loss as to what we can do to regulate her temperatures. I have spoken with all of her docs and no one really seems to have an answer. We can up her already huge amount of daily fluids, dose her with valium, and just cool her off and keep her quiet. That really seems to be the only option. If you are reading this and struggle with thermoregulation…. I am totally open to suggestions. This is the one area that is really holding us back right now. It is is hard to let her play and let her be a kid when everything she does causes a fever.
As for the breath support, we are teaching her techniques to get a deeper fuller breath. Reminding her to breathe properly, and upping asthma meds. The ENT is going to scope her nose and upper airway in March to be sure we aren’t missing something. She has developed a really loud nose breathing sound the last few months. This will just check to make sure this is truly a mito issue, and that we aren’t missing a different piece to the puzzle.
We are scheduled to see a neurologist in Florida in July. I need to talk more to our doc before I give much more of an update on this trip. I am still trying to wrap my brain around the reason for the visit. Nothing new, or anything to really worry about.. I am just not sure I fully understand it yet, so I want to update when I can actually give intelligent information.
In true Mattie form, we have been introduced to a new condition I had never heard of. The girl really strives for different. Mattie is still wearing her airway clearance vest twice a day to help keep her lungs clear. One day during a session Mattie got really upset and insisted it was burning her. I took it off and she was covered in hives under the vest. After several more episodes and a trip to the doc, M was diagnosed with pressure uticaria. A fancy way of saying that her body will react to pressure on her skin with an allergic type reaction. She has also broken out in hives from something as simple as a pair of pants that were tight on her belly. It is crazy… We swapped out her antihistamine and she has been hive free for a while.
Mattie is scheduled for a port a cath surgery in March. I am really struggling with this being the right decision. Honestly, I am thankful that they scheduled so far out. This gives us time to think about, pray about, and talk about it being the right decision. If you had asked me a month ago I wouldn’t have flinched. The last couple of weeks have been so good. I hate to have the port put in and then discover that we don’t really need it. This would be surgery number 15. Mattie says she is ready, and wants to have it done. The docs all seem to think it is a good choice. I am just not sure. I will keep you updated on the final decision and will post info if we decide to move forward with the procedure.
We started in home nursing care almost a month ago. It is a huge adjustment for all of us! The nurses are a huge blessing to us. I didn’t realize how much I was doing until I got to watch someone else do half of it. I don’t’ think Mattie would be doing as well as she is without the care they are providing. . She doesn’t have to run out every time I do. She has more opportunity to rest, more eyes watching her vitals and appearance. We are blessed with nurses that really love M.
We are still waiting on the results from the hemiplegic migraine and genetic mitochondrial myopathy testing. I will update if and when they come in.
This week is feeding tube awareness week. If you have anything you want to know about feeding tubes, please ask! I think Mattie plans on writing something up about using a feeding tube. Keep an eye out for her blog post this week. http://www.memosfrommattie.blogspot.com/
Hey guys!I am working on trying to win an Ipad for Mattie. Please help out if you can. If you have a child with special needs (or work with them) and you haven’t yet found A4cwsn please check out their FB page and like them. This is a great group that has already given over 90 iPads to special needs kids/professionals this year. If you like what you see please say I sent you and also friend request Gary James- it is his page.
Days like yesterday make me wonder if I am too hyper vigilant.. If I worry too much. Is her mito really having all the affects on her that I think it is. I know it is crazy.. but you would be amazed at how much time my brain spends on just these types of questions. She hates all of the vital checks and restrictions. When I see her playing without pause and smiling.. it makes me wonder.
Then we have days like today where she wakes up puffy and sore and tells me she only has two marbles/spoons.. That is not a good start to the day. She tells me to please call and let them know she can’t make it to aquatic therapy. She lays down on the couch and cries if you look at her wrong. Today, she is paying for yesterday’s fun. She HATES naps, but I know that is what she needs. So the dance begins. I find a way to clear the house of all the other family members. I offer to snuggle her on the bed if she is interested… then I sneak away as soon as she starts to sleep.
I find myself in those quiet moments praying for healing.. begging for healing. Then praying for God’s will. I am never quite sure which prayer is the right one. I know that our God is a healing God. I know that God can work miracles, and can do anything. I also know that sometimes the answer to our cry for help is sometimes just going to be no. Not that he doesn’t help.. just not always in the way we ask him to. It sure can make a person crazy. I pray for healing, then his will, then find myself wondering if too much doubt in my mind and heart is why God says no. I realize that their is no truth in the statement.. but man it is hard. I feel like my prayers go round and round with these same lines. I wonder if it is this difficult for me to wrap my mind around what it must be like for Mattie. She is on fire for God! I have also seen her yell and shake her fists at him. In the end she probably has it right. I am sure that God doesn’t mind us being mad.. he is enjoying the conversation.
No real aha moment in this post.. just venting a bit I guess.
I am going to be posting Mattie’s updates here and on Caring Bridge. I have had requests for both.
After the stroke like episode we have decided to get Mattie back on schedule with seeing neurology. We haven’t decided if we will go back to our old doc or if we will be moving on to a new one. I hope to make a decision in the next couple of days and get an appointment on the books. Thankfully she has not had any more symptoms, and the ones she did have all seem to have faded.
We are still working on figuring out what is going on with Mattie’s swallow. She had an upper GI, and also a Oral Pharyngeal Motility Study. Both studies had some minor abnormalities….but nothing that the doctor feels like can explain the difficulties she is describing. The final report on the OPMS is not in, I hope it will shed some light on the problem. In the meantime they want me to record Mattie eating and send them video of the times she is having problems. Hopefully we can get it on video and sent in soon. Every time I break out the video camera she seems to have very little difficulty.. go figure.
We had a cardiology appointment last week. They have now confirmed that Mattie has diastolic dysfunction. Her heart is not fully relaxing between each pump. I wish I could tell you all more of what this means for us.. but it like most everything else is something that we will just have to wait and see. The doc said that he will start her on beta blockers when she turns 13 unless she begins to have symptoms before that point. They will also continue to do a yearly echocardiogram. I have been saying for a little over a year now that I was not going to borrow trouble and worry about this diagnosis until it was ours (they have been watching and suggesting this diagnosis for a year). Now that it is here and ours…I am still going to give it to God. Worrying happens, but it can’t be what or who we are. I think my attitude about it over the last year has served me well and I am going to hold onto it as long as I can. With each new pill and each new diagnosis I become more and more convinced that God has big plans for my Mattie.
The wheelchair……It is amazing to me that we are still talking about and fighting for this chair. It seems simple. The child needs a chair, the insurance company should provide it. Anyway, that is not the way the world works. I got a call today that they want the seating folks to come out and look at our house. I am afraid that all of our stairs may cost us our chair. Please pray that they are able to see the situation for what it is and that the house will not be a problem. (Feel free to pray for a new house too)
Mattie got her orthotics last week. Other than some minor hiccups with the purchase of some new shoes it is going really well. They are only causing some minor irritation and seem to be helping keep her in the proper position. I am not sure how long she will be wearing them. Hopefully we can correct the problem and get her out of them soon.
The symposium was a great experience. I am so thankful that I was able to go. I am doubly thankful that the UMDF helped me out with some scholarship funds to help me get there. It was great to see so many people, new friends and old. The whole thing was surreal. I enjoyed sitting in on the family sessions, sneaking in the back for some of the scientific sessions, dinners with friends, talking to other mito docs, and getting to hang our with our own Dr. K. I hope to make next years trip a family vacation. They symposium will be at the nation’s capitol next year.
We will be in Ohio next week having a follow up with the Chelemsky docs. They are the ones treating Mattie’s dysautonomia. Mattie and I will be going alone this trip. I am a little freaked out about flying into Akron and having to get a rental car. Those of you that have known me for any length of time know that this is like my own personal nightmare come to life. We also don’t know for sure where we will be staying. I will give the Ronald McDonald house a call the day before we leave and hope they have a room that we can use.
Mattie says she would like to start blogging. I am looking now for a kid friendly site. Once she has something set up I will be sure to forward the site. If you know of anything please let me know.
Thank you to everyone that has been praying for our friends Zach and Eithene. Sweet Zach went home to his heavenly father. Eithene is fighting infection and is struggling mightily with pain. Please pray for peace for both of these families. Please also add Olivia to your prayers. She is struggling with her liver right now. I don’t know all of the specifics… but this family sure could use some rest.
I guess that is all for now,
Mattie got new orthotics yesterday. She has been about as happy about wearing them as any one would be. She didn’t seem overly upset, and liked the butterfly print she picked out….. Until today… Today we went to Target to look for new shoes. While shopping I noticed how aware Mattie was of the shoes the other young girls were picking out. The young lady that commented that the “sneakers with the butterflies on them are for babies” took a small piece of Mattie’s soul. My children are not materialistic,they are not brand savvy, they don’t care how much something costs, but it seems that blending in has become super important. It is so hard to watch them care so much what other people think, but also makes me so aware of how often I do the same.
In the end she found a cute pair of purple Chucks that look great with her butterfly braces. Pray for me next week when we try to find a cute pair of dress shoes.
Just wanted to let you know where Mattie’s updates have moved to. You can find all things Mattie at:
I will do my best to get back on here and start posting again soon.
Mattie Gets A Wish!
Blast from the past… hard to believe it has been 6 years.
This was her “Look at my face” Face.
I am sending this out to ALL.. Feel free to delete, respond, or forward as you see fit.
To ALL of my friends….PLEASE take a minute to read this. I need you!
Our dear friend Katie have nominated our family to win Pigeon Forge’s Taking back Vacation Sweepstakes. The prize for June is a 2 night vacation for their family and assistance with utility bills for the next 12 months. In July, the prize is also a vacation and assistance with mortgage payments. Several people have asked for more about Mattie’s story, so please feel free to pass this on to anyone that you are asking to have vote for them.
Mattie has always been a happy, loving girl. Even as a baby, she was laughing all the time. There were things about her though that didn’t seem quite right. For instance, she only nursed from one side, and she would cry and just lay face down when we tried to play with her on her tummy. Mattie’s medical journey began at the age of 6 months when we discovered that she had Klippel Feil Syndrome. The syndrome is considered an orphan syndrome and is quite rare. It took several months seeing specialists to finally get a diagnosis. The major issue with Klippel-Feil Syndrome is that Mattie had fused and malformed vertebrae in her neck. That was making her neck tilt to the right and whenever she looked at you, her head was tilted to one side, kind of like a puppy when they don’t understand you. She was at risk for serious injury if she landed on her head or neck from a fall, so there were numerous activities she wasn’t allowed to do that other little kids got to, like somersaults and cartwheels.
From that point on, it seemed that Mattie couldn’t catch a break. We kept finding more and more things wrong. The base of her spine was malformed which made it painful for her to sit, we discovered she is deaf in her right ear, and has a mild hearing loss in her left. At the age of four, her tilt was beginning to increase and the difficult decision was made to straighten out her spine as much as possible and fuse her neck vertebrae to stop the curvature (she was at a 45 degree tilt at that time). Since she had been used to seeing the world from a heavy tilt for so long, she had to relearn to walk and balance all over again. She has been in physical, occupational and speech therapy for as long as I can remember, primarily to keep from losing abilities rather than to gain them. Mattie has always been weaker than her peers, but much more so in her right hand. After many years of working to strengthen the muscles, we found out she was missing some very important muscles in her right hand. Surgery corrected the problem and gave her the ability to open a bag of chips or a candy bar and other stuff like that that we all take for granted so often.
One of the big issues for Mattie though was unsolved until this past January. She would have difficulty making it through a day of school without being absolutely wiped out. There were days where she would come home and go to bed and sleep until the next morning. She could run around with the other kids, but she paid a high price for it afterward. We couldn’t figure out what was going on. She had what we referred to as “gray days” where she would wake up and have a gray pallor about her face. What we though was her normal temperature was around 99.5 degrees. She would have pain in her legs and just be worn out from the word go.
Every year, we have been given a new [additional] diagnosis for Mattie. The most difficult news I would say since finding out about the KFS and her hearing loss was this past January when they found out that Mattie has Mitochondrial Myopathy. Basically, her body burns a tremendous amount of energy to create energy for her muscles and organs. When she uses energy it takes her longer to refill the tanks, and the tanks are incapable of ever being full. When she pushes herself too hard it is very damaging and dangerous to her body. As a result, the wheelchair has gone from occasionally used to a frequently used. She has to “spend” her energy frugally and wisely, which was a foreign concept to us.
It is difficult to watch any child go through the 12 surgeries she’s been through in the past 10 years and having to take all 84 of the pills she takes each week. However, Mattie is such a sweet girl who is so patient and enduring of all the numerous doctors’ visits and procedures and surgeries. She is a very intelligent, talented child who sets the curve in school, reads anything she can get her hands on, and is an accomplished pianist. She doesn’t understand why she is the way she is and unfortunately we don’t always have an answer for her with those tough questions.
Steve and Shelly
Email me if you would like a daily reminder to vote.
(Below is a note from Katie)
As told, Mattie has endured a lot in her 10 years. But often overlooked or shadowed are her two siblings. Alyssa is 12 and a phenomenal support of leadership and guidance to Mattie. She is always there to help her mom or Mattie with anything and displays a wonderful moral compass for others to see. Alyssa is not your typical pre-teen worried about name brands and new dance moves. Rather, she is a big sister, a wonderful daughter, an aspiring young lady who does good because it is the right thing to do. Then there is James who is 8. James brings spunk to the family. He is full of energy and LOVES learning new things. Books and new games are something he doesn’t do without! James is also always there, ready to help and willing to do what ever it takes to make sure things get done. These kids emulate a community that most kids their ages have no concept of. Sure, there are times where they would rather (and do) choose to do something different, but they get it. They understand that sometimes your extra “umf” is what gets someone else to the next moment. That little bit of above and beyond….goes further than you originally thought.
So I have nominated this family, not because I feel sorry for Mattie (though there are PLENTY of times my heart breaks for her), but because the entire family needs a break. Insurance companies don’t cover Mitochondrial Myopathy therapies and treatments because the diagnosis is so expensive (compared to that of cancer) and so newly discovered that so little is known or understood. The supplemental medications Mattie has to take JUST for this run in excess of $400 per MONTH! She needs a new wheel chair, but insurance is refusing to pay for that because she can “move about her house”. It is ridiculous the battles her mom and dad must wage daily, both in the home and out.
A vacation is something that is NO where in the budget. Please help me pass this story on and get them this vacation. To you and me, it is a moment every day using minimal effort – for them….it is so much larger….SOOO needed….each day, go to http://bit.ly/cGqWj0 – sort by vote and look for Shelly L. from Sugar Hill, GA. Every vote, every day counts….
Thank you for taking the time to read my novel and please pass it on. Pass it to whomever you can to get help voting for this family….they need your support.