Mitochondrial disorders

After looking up more information on Mitochondrial disorders, I think I have a slightly better understanding what they are and why this is suspected with our youngest. The information is pulled from the United Mitochondrial Disease Foundation page designed for teachers.

Mitochondrial disorders are notorious for not following a set pattern. It is not uncommon for patients to be misdiagnosed with another disorder. Symptoms can begin at any age. Depending on which cells are affected, symptoms may include: loss of motor control, muscle weakness and pain, gastro-intestinal disorders and swallowing difficulties, poor growth, cardiac disease, liver disease, diabetes, respiratory complications, seizures, visual/hearing problems, lactic acidosis, developmental delays, autism, and susceptibility to infection.

When looking at the main issues we have dealt with Ellie over nearly 7-yrs now she has had the following symptoms: right-sided muscle weakness, gastro-intestinal disorders and swallowing difficulties, poor growth, respiratory complications, and susceptibility to infection.

Knowing they are suspecting a mito and possibly metabolic issue with her does make sense when looking at her long list of combined medical diagnoses. Her known and confirmed major medical diagnoses are: bronchial malacia, laryngeal cleft, GERD, FTT, severe protein allergies  causing autonomic shutdown, sensory integration dysfunction, chronic lung disease, asthma, aspiration issues, 100% g-tube fed (placed at 5 months), GI and bowel motility issues and bowel ileus.

When looking at these issues with the Mito symptoms, which go with which?

Gastro-Intestinal Disorders and Swallowing Difficulties: bronchial malacia, laryngeal cleft, Gastroesophageal Reflux Disease or GERD, severe protein allergies  causing autonomic shutdown, chronic aspiration, 100% g-tube fed (placed at 5 months), GI and bowel motility issues and bowel ileus

Muscle Weakness: well her low tone in her upper and lower right side of her body

Poor Growth: Failure to Thrive or FTT,

Respiratory Complications: chronic lung disease, asthma,

Susceptibility to Infection: She is susceptible to nearly bug, cough, cold she is exposed to

Clearly if the Mitochondrial disorder comes back positive, this would explain most of her symptoms since birth, especially all the feeding and growing issues we have had with her. Breaking down her symptom list like this, clearly her primary affected areas are the gastro-intestinal and swallowing disorders. She has struggled since birth with these issues.

Long Exhausting Appointment Marathon Day

Today has been a very long, exhausting, painful, but overall good day. To start with, I had a feeling I needed to show up to my neurology appointment early. Well my appointment was scheduled at 9:15 and we arrive at 8:30. This turned out 6o be a good thing for me because the 1^st appointment was a no show. This allowed me to be seen earlier. The dr is glad that the added meds for my migraines are helping, and upped the dose one more time to see if it helps more with my migraines and some of my other pain issues.

As soon as the appointment was over I checked out and prepared to leave, and suddenly the entire hospital lost power. So glad we arrived early, because the power outage happened as I would have been checking in for my appointment if I had been on time.

Next, we left that hospital to head to the next hospital for my joint injections in my hips. This time in my main hip joints not the SI joints. On our way to this appointment we dropped by the post office to drop a Mini Buddy Bunny in the mail. Dropped by a nursing home to visit the mother of the couple driving Ellie and to our appointments today, this brought a huge smile to her. Then we went to the injection appointment. This injection was very painful. I am so hoping this series helps…

As soon as this was finished we loaded up once more and were on our way to John Hopkins for Ellie’s follow up appointment after her surgery. We talked with Dr S about the lacking weight gain since surgery, she was 40.9 lbs today... Talked about Ellie and how she is struggling to tolerate food varieties, is tolerating pudding thick purred apples and pears and some foods off and on. Today she was venting undigested and curdled formula again.

We discussed her starting to introduce more textures to her and slowly working her down from honey thick to nectar thick purees and introducing honey thick liquids, then working down to nectar tick over the next month. We also talked about mito and metabolic testing with a genetic specialist. While this is never a series of tests or a diagnosis a parent ever wants a child to have, this sometimes a necessary one. If this comes back positive, this will move her from idiopathic to a known route of treatment. Yes this will add more specialists to her comprehensive team, but this team will help us understand better why her body does what it does and what to do for specific treatments she needs or will need in the future.

John Hopkins Children’s Center is also excited to have our Mini Buddy toys in their facility. They are also excited that we are now working with our local AMT rep to help expand our program.

Message from Tricare!!!

On August 17, 2012 TOL will simplify access and authentication. As part of this upgrade, the unique TOL username and 15 digit password logon will be retired. If you use the 15 digit password issued by the MHS identity authentication service (iAS) to access TOL, please register for a DS Logon account today!

Oh this is the BEST message ever for me. I HATED that 15 digit military required password! that was a nightmare for me not only to figure out a password that would work, but one I could remember, one I had not used within the last so many times, and one that fit all the requirements of the CAT card holders.

I can finally go back to my normal "secure" everywhere else passwords!!! YAY!!!