Saturday, August 7, 2010

Summary of how we got to where we are now..

Samantha is now almost 27 months old. With the exception of being slow to meet her early milestones, we had no real reason to believe anything too serious was going on with our little girl. That is, until it came time for her to try to walk. When Samantha still was not close to walking at almost 18 months, we finally contacted early intervention to have her evaluated. The Physical Therapist who came out to do the evaluation diagnosed her with low muscle tone. Since that original evaluation, we have been doing PT with Sam. (We have also added speech and occupational therapy more recently.)

As parents, we never really thought the low tone diagnosis was accurate. Samantha always seemed strong to us, she just had no balance to speak of. Sam has such a strong grasp that my father calls her "Sammy the grip" to this day.  In addition, we began to notice that Samantha was shaky in general, and preferred her left side. Sam started taking some steps with the help of foot braces in late Dec/January. By February when she was 22 months old, we decided to take her to a neurologist. It seemed to us that this was neurological in nature. After spending  many, many hours online reading about symptoms, I believed she had mild cerebral palsy. 

We went to see the neurologist in late February.  The neurologist diagnosed her with mild cerebral palsy upon exam, but wanted an MRI to rule out the progressive neurological things. We were not surprised by the diagnosis, or what the doctor was saying. And, we were happy to get the MRI to rule out anything else and get on with the business of helping Samantha work through her issues.

In March 2010, she had her first MRI, and unfortunately it showed signaling that looked like a metabolic (and most likely mitochondrial) disorder. In other words, this COULD be something progressive. Without further testing at that time there would be no way to know if it was progressive for certain.

Despite what the MRI showed, Samantha seemed relatively stable and was making slow progress. Her neurologist at CHOP (Dr. Berman) wanted to take a wait and see approach. He wasn't convinced what she had was progressive in nature. So, we agreed to wait two months and go back for a follow up to see how she was progressing in her skills. We also went to DuPont for a 2nd opinion, and other than suggesting blood work, the 2nd opinion neurologist agreed with the first and didn't feel further testing was necessary as Samantha was progressing in her skills. When the 2nd opinion neuro saw Sam's MRI scan she said, "well you know this is a classic "mito" MRI". She was also surprised Sam was doing as well as she was considering what her MRI looked like. All of this concerned us greatly, but nothing about Samantha so far had given us any reason to think that this "thing" was progressive (getting worse), whatever it was. And thus, neither of us were ready to put Samantha through any additional testing unnecessarily.

After two months (in May 2010), we went back to Sam's original neurologist and he felt she was still making progress (albeit slow). This time, he wanted to see her back in three months with the instruction to call if anything changed. Unfortunately a few weeks after that appointment, Samantha began having eye issues that were very new. In the past, her eyes looked fine. We took her to a neuro-opthomologist at CHOP who diagnosed her with a variety of eye issues (exotropia, ptosis, opthomaplegia , and optic atrophy). The neuro-opthamologist contacted Sam's neurologist Dr. Berman. Dr. B then called us and wanted us inpatient ASAP to do a variety of tests as he considered this a regression.

Mid-July we went to CHOP for an inpatient stay and got a slew of testing done (repeat MRI, MRS, bloodwork, urine work, VER, ERG and a lumbar puncture). Her 2nd MRI, according to the report, looked a little worse than the first and again suggested that this is metabolic in nature. Her MRS showed faint lactate peaks in the basal ganglia region, and her lactate was high in her spinal fluid (blood lactate was ok). 

All of these test results are pointing to a definite metabolic disorder, and most likely a mitochondrial disorder (mitochondrial disorders/disease fall under the "umbrella" of metabolic disorders). We are still waiting for a few genetic tests to see if they were able to pinpoint the gene that could be causing this. It is not always possible to find the specific gene but each year the technology gets better.

We met with Samantha's neurologist Dr. B this past Friday, and he feels a 2nd opinion from a top mito specialist would be helpful to us in terms of securing a definite diagnosis and creating a care plan for Samantha going forward. Our neurologist is going to contact Dr. Cohen (one of the top doctors if not THE top mito doctor in the country) at the Cleveland Clinic and hopefully we will be able to go there sooner rather than later. One test we have not done yet is a muscle biopsy. We are not sure if Samantha will "need" one to confirm a diagnosis-although currently the muscle biopsy is sometimes considered the best way to be sure you are dealing with mito.

Unfortunately, at this time, there is no cure for mito, and it is usually progressive. It can affect any organ/system in the body. Currently it is impacting Samantha neurologically (and perhaps her eyes as well). Although there is no cure, there are steps we can take to slow down the progression. For example, we need to keep her well rested, hydrated, out of the heat, avoid sickness if at ALL possible etc and so forth. In addition, there are various forms of vitamin therapies that sometimes seem to help a little (called a mito cocktail by some). Although this is the diagnosis we are probably dealing with, we can't say it with complete certainty at this time. Even if it is the Final diagnosis, unfortunately there is no set course for these type of disorders. Each patient/case is different. Sometimes things progess and continue to get worse quickly. Sometimes the progression stops and thus kids actually begin to do better. The best way to know going forward how Samantha will be doing is basically to wait and see how Samantha is doing.

If you are interested in learning more about mitochondrial disorders, here are a couple of links to look at:

As for Samantha, she has been quite the trooper through ALL of this. She was amazing through the  hospital stay, and doesn't seem to mind the many doctors appointments and therapy appointments that fill up her schedule. Sam is her sweet, happy, adorable self and doesn't seem to be in any type of discomfort.

Samantha continues to take steps around the house but still prefers to crawl. Val and I got her a walker last week and that seems to help her be mobile outside.  Until now, she has not been able to walk at all outside more than a few steps (due to the varying terrain). Sam really seems to like the walker when outside and tries to get it to help her do things she is clearly not able to do--but it is cute that she has enough courage to try now.

Her speech is a little delayed--but she does have words (and a lot of "almost" words that I translate for people).

Although a progressive disorder is not something we would want for Sam, there is at least a direction for us now. We are still very concerned about what Samantha's future will be like--but as no one is promised a tomorrow, we plan to focus on today.

And today we had an amazing day at the park with our little girl. So, it was a good day. :)

Until next time,


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