Fiona Midori King

Fiona Midori King

Hope 4 Fiona

Condition Summary 9-18-2012

 

 

 

 

Some detailed analytical results were reviewed during Fiona’s follow-up visit to Minneapolis in mid-September.  Although the analysis of her spinal fluid is not yet complete, results of her eye exam and MRI were available for review & discussion.

 

Fiona’s eyes are grossly unchanged.  Her optic nerve still shows mild nerve atrophy which was no worse than her April check-up.  Her cherry red macular spots appeared identical to April’s exam as well, indicating no further deterioration of her vision.  Auditory testing conducted locally to La Crosse has seemed to indicate no additional loss of hearing as well.  This was all good news and seems to indicate Fiona’s medications have halted the deterioration of her senses.

 

MRI results did show atrophy of Fiona’s brain.  Her brain mass has increased disproportionally to her age which we saw in Dee’s friend’s little boy in LA California, who sadly, passed September 29th.  Our neurologist believes this is due to accumulation of substrate (lipids) throughout the brain which have increased its mass – no way to know for sure though.  On MRI we can clearly see that the brain now lacks much of its fluid gap between the skull and brain surface, meaning the brain is so large it is nearing the skull.  The MRI also showed some lipid buildup in specific locations within the brain as was indicated in April. 

 

The hypointensity within the splenium of the corpus callosum (the bundle of nerves that connect the two hemispheres of the brain) has slightly diminished since April suggesting a slight loss of myelination of Fiona’s nerve cells.  We learned that loss of myelination on nerves is akin to loss of insulation on an electrical wire.  Signals in those wires will travel slower, and at some point, they will not travel, as myelination breaks down.  Myelination of nerves occurs in the first 4 years of life, so it is discouraging to see it breaking down at this age.  GM-1 Gangliosidosis can break down myelination and the doctors are not aware of methods to build it back up, stating, “it is the subject of much research.”  We discussed diseases such as Leukodystrophy and Multiple Sclerosis which chiefly involve destruction of myelination and subsequent paralysis.  Symptoms of Leukodystrophy are loss of body tone, movements, gait, speech, ability to eat, vision, hearing – sounds kind of like GM-1 doesn’t it?

 

Of course we also discussed parental observations of Fiona on a daily basis – a reason for optimism.  What Dee and I have seen is continued increased awareness in Fiona of her surroundings compared to her condition in April and May.  I can elicit a smile from my daughter in under 30 seconds whereas in May, she was completely unresponsive to outside stimuli.  If Fiona is given attention and stimulation for 45 to 60 seconds, she is usually giggling, grinning, and starting to use her voice again.  On 9/16 I saw Fiona lift her head and use her neck muscles when she was upset.  Previously we’d only seen use of those neck muscles when she was happy, so this appears to be an improvement as well.  When these observations were discussed with the treatment team, they said other parents in the program have reported similar improvements.

 

We will add an additional drug aimed at further protecting her nerve cells from damage over the next 4 weeks and will evaluate her again in Minneapolis in December.   As of this morning, Fiona had a great night’s sleep and is wide eyed and giggling this morning – a happy, happy girl in her mother’s arms.

  

I once read that having a child with a terminal disease is like a roller coaster with constant ups and downs….that is a perfect description of what Paxton and I are experiencing and feeling right now.  After receiving the news of Fiona's subtle decrease in myelination, we were saddened.  We will continue fighting this relentless nightmare of a disease, but Paxton and I do feel a bit defeated – there’s seemingly no way to fight myelination loss.  Although we have not “lost” our baby angel, the mere thoughts of it, again, turned our lives upside down.  Receiving this news within her updated reports has really impressed upon us the real facts involved, facts that weaken our hope and hint at potential future defeat; if the loss worsens, Fiona won’t have a very long, nor pleasant future.  Paxton and I admitted to each other that we were tired, and I do not mean a sleepy kind of tired; rather, an emotionally and mentally draining kind of a tired from fighting GM-1.  We are both willing to admit that we are exhausted from the draining effect this disease has had on our well-beings. With that admission came a lot of guilt, but it felt good to say “I’m tired."  The next few days were just as tough as we struggled to stay positive and to be strong.  It appears we have reasons to be encouraged as well as reasons to be discouraged.

 

So much is in God's hands and so little is in ours that I need to let go. My daughter is as happy and healthy as she can be today, and that is all I am going to get right now…..It needs to be enough.

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