Fiona Midori King

Fiona Midori King

Hope 4 Fiona

Inception - Sunday December 25, 2011

 

 

My pregnancy was quite normal up until week 37/38, in which during a routine weekly ultrasound visit the doctor determined that there were some serious complications. Fiona’s heartbeat had weakened and she had lost weight, I also experienced some water leakage at the time. The doctor advised us that Fiona needed to come out immediately.  Within 4 hours of the ultrasound, I was admitted to the birthing center. Labor was induced and after approximately 12 hours of pushing through the night, Fiona was born at 7:20 a.m. and her father experienced the privilege of cutting her umbilical cord.
 
Fiona was immediately placed on my chest and we could see she was fighting to breathe. By 7:40 she was admitted to the ICU where she remained for 11 more days. Her platelet count was very low resulting in the possible risk of hemorrhaging and she had a slight touch of jaundice. Fiona needed to receive oxygen and to gain some strength. I lived at the hospital alongside of her each and every one of those 11 days caring, nurturing, and loving her just as any mother would for their sickly newborn.
 
During those extremely precious minutes I experienced holding my baby girl for the first time, the obstetrician had brought it to my husband’s attention that the placenta contained infarctions-significant pockets of dead tissue. The doctor was concerned that this could be an indicator of a disease and was the reason for Fiona’s weight loss prior to birth- she simply was not receiving the proper nourishment. My placenta was then sent to the Mayo Clinic in Rochester, MN for analysis.  
 
After 3 to 4 weeks of impatiently waiting, we received the analysis, which showed the placenta had evidence of Metabolic Storage Disease (MSD). Currently there are hundreds of various MSD’s out there. MSD’s are genetic diseases caused by a DNA mutation that disrupts a patient’s metabolism within their individual cells. Next we needed to diagnose the specific form of MSD that my daughter was diagnosed with.  
 
Fiona spent 2 days at the Mayo Clinic at which she received a urinalysis, a full blood slate, an MRI of the brain, full body x-rays, ultrasounds of her abdomen, and biopsies in multiple locations for cell cultures. Genetic sequencing was also initiated and electron microscope studies were made of her cells. If you could imagine, at times it was unbearable having to watch my struggling newborn experience all that testing, poking and prodding. As any mother would, I of course wanted nothing more than for all of it to stop and for my baby to be able to go home and live a normal life. 
 
Various test results flurried in over the next 2 months. Fiona’s MRI and blood tests were normal. She did, however, have some abnormal sugars in her urine. Her x-rays showed slight cupping of the bones of her wrist and some subtle broken vertebrae – indications of MSD. Fiona’s biopsied cells were cultured and a battery of tests was run on them in search for missing enzymes. We finally had our answer…
  
Fiona’s cells contained no beta-galactosidase. Beta-galactosidase is an enzyme, created in the lysosomes in each of our cells. We have all kinds of enzymes for all kinds of chemical reactions taking place in our cells. The creation of enzymes is encoded in our DNA, and in Fiona’s case, a genetic defect was present which prevented formation of this key enzyme. This defect is due to both my husband and I being carriers of the disease (both of us produce 50% of the normal enzyme – enough for normal cellular function). When 2 carriers have a child, however, that child has a 25% chance of having no enzyme at all. Beta-galactosidase breaks down lipids – long chain fats. Without beta-galactosidase, Fiona’s cells will fill up with lipids and will be destroyed.  
 
The disease is called GM1 Gangliosidosis and is extremely rare. On average, there are 20 newborn cases each year within the US. As you can imagine, based upon the rarity of the disease, there is little research in the field and sadly, no cure. For more common MSD’s, patients can be injected with enzyme, but unfortunately in Fiona’s particular case, this is not even an option or possibility. Fiona’s father, Paxton was given the news via phone in early September and the symptoms of Fiona’s disease were detailed: blindness and loss of hearing and motor function would begin at 6 months. By month 12, most sensory functions would be destroyed. The ability to swallow would be lost and as fluid filled the lungs, death would occur from lack of nutrition, destruction of neural and liver tissue and infection.
 
From that point on, every spare moment was spent researching the disease. My daughter had been diagnosed with a rare disease and my husband and I wanted to learn every possible fact about it. We discovered that a few doctors had done some research, studies, and lab work on this disease, and there is some hope for possible treatments in the future, but most likely not for our daughter’s future.  
 
Paxton and I took the next necessary step for Fiona. We traveled to Minneapolis and met with a bone marrow and stem cell transplant team (new genetic material from a transplant = corrected DNA = enzyme).  We learned that in Fiona’s case, because her brain is affected, the new genetic material from a transplant wouldn’t cross into the brain and cure her neural tissue.  
 
Then we found a physician in Boston who had figured out how to create a cure, and for a brief time, there was some hope. This physician had been working on GM1 mice and had found a way to genetically engineer a virus to produce enzyme. He then infects the mice and the virus infects all tissue in the mice, including neural tissue, and enzyme is created, curing the mouse. After success in mice, he scaled the experiment up to cats. After success in cats he scaled up to sheep, where he was once again successful in his mission.  
 
GM2, however, is a more prevalent disease than GM1 and so this doctor has used his analytical success to secure federal funding to initiate a GM2 trial in late 2012.  A GM1 trial won’t be conducted for 7 to 10 years. Several million dollars would be required to fund a GM-1 trial now, and based on Fiona’s age it’s most likely too late to attempt a cure. The likelihood that a cure is found in the amount of time needed to make a difference in our only baby girl’s life is basically non-existent, and to know this information is the heartache and inevitable truth I must face every day.

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