Thursday, January 12, 2012

All good things to those who wait.

As promised, here is an update of (mostly) great things that have come together in the past few days.

Our week ended last Friday with some devastating news. The health department had notified our pediatric therapy clinic that Addison was under contact precautions due to her C-Diff infection and told them they could no longer see her until she was no longer infected. Obviously if you've been following our blog, you know she's had C-Diff since October already, and we've spent months treating it to no avail. I was sobbing when they told me the news, already imagining how bad things would be for her if she had to go a few more months without any therapy. That was the whole reason we moved! We had just gotten the insurance stuff finalized and we had our first 4-day week of therapy when we got hit with this. Needless to say, I was just distraught.

Our fantastic therapy team felt terrible and concerned about Addison missing therapy, so they pressed the health department for a better alternative. Eventually, they were told that they could see us at as the last appointment of the day, if they wore gloves and gowns and everything was sanitized after she touched it. They readily agreed, but pediatric therapy afternoon appointments are very difficult to come by because so many kids need after-school appointments...and they didn't really have any regular slots available, so we were told basically we would be unable to get much therapy anyway due to scheduling demands.

However, its only been a few days and (Praise God!) people have been cancelling left and right for the final appointment of the day. It sounds like luck; but I truly believe that God is making this work for Addison and it was a huge break for us. One of the appointments we were able to keep, lead to a discussion about Gait Trainers and how Addison might benefit from one. We thought it would be difficult because she's so tiny for her age, to find one that would fit her, but I prayed Monday night that we would have some sort of positive turn in all this.... and this morning I received a phone call that not only did they find a gait trainer small enough for her, but that they could loan it to us for as long as we need it and that we could come pick it up TODAY. What an awesome way to start my day!

Addison was a little apprehensive of her gait trainer at first, and was so tired she didn't spend much time in it today. But I will post pictures tomorrow because before bed tonight she did beautifully in it, chasing Daddy around the kitchen. I am so excited to take another step towards her walking.

The next big thing: I was initially a little concerned about our moving to Ohio, because it required that we would need to select a new pediatrician in Ohio too. Our pediatrician in Michigan is very caring and compassionate and respectful of my close scrutiny of Addison's condition. She was helpful and always honest with me that she didn't know what was wrong with my baby girl. Where would I even start, explaining Addison to someone new, from the beginning? How would I get them to look past her adorable smiling face and fight for her, like I needed them to, in order to coordinate the best possible care? I am so incredibly tired of being the Captain of her team... I want to just be the Mommy now. I needed someone who could take some of the responsibility of pushing forward off my shoulders.

In order to respect his privacy (even though I think I will mostly be bragging about how wonderful he is!), I will call our new pediatrician Dr. M. We first met Dr. M in February of 2011 when Addison was hospital at St. V's for 11 long days. He happened to be the physician on the floor throughout some of our time there. He told me during a later hospitalization, that he knew right then seeing her for the first time that there was something very wrong with her. We went on to see him regularly on the peds floor during our many admissions in 2011. He was always kind and gentle with her and never discredited my opinions as her parent and not a doctor. When I saw he was on our list of pediatricians to choose from, I consulted Addison's therapy team and found out that our PT actually takes her kids to his practice as well. I was sold - and scheduled a consultation with him.

He remembered Addison instantly, and truly impressed me by recalling a huge amount of her history from memory. He reiterated again that he had known from the beginning that something wasn't right and vowed to do everything he could to help her. Here is the really exciting part.... He calls in a nurse who has been in his practice for a very very long time. He tells me that she will be a huge part of Addison's case now. She will coordinate the compilation of ALL Addison's medical records, test results, consult notes into one neat and organized little package for us to pick up and take to all of our specialists. If Addison has a rash or strange new symptom, I can send her a pic or video and she will immediately add it to her files and show the doctor for me. Her job is literally just to care for his 'complex cases'.

In this initial consult, he says he believes that they are on the right track with the Mitochondrial disorder diagnosis. He was very concerned about her issues with her hands and feet, and offered to get the necessary consults to look into it as soon as possible. He actually SUGGESTED the stool transplant as an alternative to her C-Diff battle.... and he didn't bat an eye when I told him I had already researched the pros and cons and though 90% success rate was great and that if they could find someone willing to perform it, that we were on board with the procedure.

He also suggested that perhaps the simple procedure under anesthesia in September DID trigger her developmental regression, and provides some evidence as to why that could happen to her. It is an interesting theory and when I leave, my head is filled with all kinds of new and insightful knowledge on Addison's case. I am just really looking forward to getting to know him. As we were leaving he said, "You guys need a quarterback. I'm hoping we can be that for you." And for the first time in a long time, I felt confident about the direction we are heading in.

A few other little notes too: her geneticist called and they want to see her ASAP instead of in March, so that was great news as well. I hope this means they have more ideas and direction for testing. We also are going to begin what they call the 'Mito Cocktail' which is basically a slew of medications and supplements to hopefully boost A's immune system, energy, and her ability to learn. Speech therapy is probably the most frustrating thing going on for me. Addison's ability to communicate through any means is pretty much nonexistent. She doesn't understand signing, she can't point or speak, and her word recognition is still zero (she cannot demonstrate knowledge of the meaning of any word, ie: knowing what the word 'dog' means when someone says it to her. This says a lot about her language problems and is much more concerning than whether or not she can actually talk. Her official diagnosis as far as developmental purposes go is an Expressive/Receptive Language Disorder, Sensory Integration Disorder and Global Developmental Delays.

All in all, so many promising new things going on.... it was very very nice to be able to get on here and share all the things I am positive and thankful for. It inspired me...... and I am going to add a new revolving post of the 'Blessings of Addison' - A compilation throughout the the year, of the joy and lessons to be found in every situation of raising this very special little girl.. Check back to that post often, as I will catch up on the first 12 and then update frequently.


  1. So happy for you guys that you found a great Doctor! Thinking and praying for you all , that some answers are found for this adorable little girl.
    Kay( Dillon)Keck

  2. This post brought a smile to my face with all the great news! I hope 2012 brings TONS of great things for you all!

  3. I am so happy for you. We too are seeking a diagnosis for our son who was born on October 10, 2010 ( He was due the day Addison was born.) He has some kind of muscle disease, and I feel like I am in the same boat as you, always trying to be the quarterback to find a diagnosis. I wanted you to know that I had looked extensively into a mitochondrial myopathy as a possible diagnosis for my son, and although I think he actually has a congenital muscular dystrophy at this point I learned much about mito. I wanted to tell you that the hand and foot discoloration you describe could well be part of a dysautonia, which is a disfunction of the autonomic nervous system, which controls many parts of the nervous system, include dilation and constriction of the blood vessels, which can cause discoloration of the hands and feet. This dystautonia often goes with mito disorders. I am just a Mom, not a doctor, so I could be off base on this, but I wanted to share that with you. I pray for Addison, and I know how you are feeling, because we are on a similar path, trying to get answers and help our little boy.

  4. Please investigate the pros and cons of a gait trainer for a child this young who has no known reason for not walking yet. Honestly the PTs I work with would never put a child that young in a trainer. She is still in the normal range for walking as it is not a delay until 18 months. It is nit a regression as she was never walking. Putting her in something that pushes her to do something prior to her muscles being ready to do it can have the opposite effect. If you look at the research for walkers, which essentially is the same concept as a trainer, they often delay walking rather then promote it. A trainer supports children who lack the muscles and coordination to walk and are delayed or healing from an injury. If you do use it, I would certainly ask for a daily gate trainer time schedule, building up slowly.
    I hope you find answers soon.

  5. Children with CP have benefited from early gait trainer use not for increased physical development but actualy for increased cognitive development. Exploring their environment by moving around in an upright position helps with cognitive development. But there needs to be a healthy balance and there should be a very strict time limit to the use of a gait trainer. Ideally if a child can use a walker rather then a gait trainer (not a baby walker, I mean a regular one) that is ideal.