To us, Cori had always been a pretty normal kid, other than she couldn't quite walk all by herself. We started physical therapy and after a few weeks, she started getting around on her own like a big girl with the aid of a walker and AFOs. As we approached her second birthday, a neurologist was recommended to assess the gross motor delay as her ability to walk on her own, unassisted, wasn't real...ly improving. We thought of it merely as a speed bump on the way to physical medicine and rehab. Surely all she needed was a bit more PT and she'd be running and dancing after her sister in no time.
After a follow up Neuro visit with still no gross motor progress made, the MRI was ordered. When we went to wake Cori up from the anesthesia, the nurse told us "if you havnt seen the doctor yet, that's good news. I'm sure everything is ok". Less than a minute later, the phone to the nurse's station rang; it was our doctor wanting to share information about the images seen - spots in the white matter of her brain. I figured most people had some kind of spot and just didn't ever know. Then they drew a lot of blood.
Two weeks later, the week before Thanksgiving of 2013, the neuro called. The spots seen on the MRI were actually more of a brush stroke pattern of white matter deterioration, presenting symmetrically on both sides of her brain. Her blood had also tested positive for an arylsulfatase A (ARSA) enzyme deficiency. The MRI pattern paired with the enzyme deficiency pointed to a genetic, progressive white matter brain and nervous system disorder "“ Metachromatic Leukodystrophy (MLD) http://mldfoundation.org/MLD-101-what.html. Being deficient in the enzyme meant that sulfatides, which are usually broken down by the ARSA enzyme, would build up in her brain and body and destroy the myelin sheath "“ hindering communication between her brain and the nerves in the rest of her body. We were told to expect her to deteriorate over a period of two to three years, during which she would lose the ability to move her body, swallow, see, or live likely past 5-8 years of age. A difficultly acquired urine sample and further genetic testing quadruple confirmed her diagnosis the Friday before Christmas 2013.
There are no treatment options/cures for MLD at this stage of progression. A bone marrow transplant would be so brutal and would only slightly delay the harsh inevitability.
So we snuggle her. We laugh with her. We make incredible memories with her. We trust in God's plan for her and our family. We pray for strength and peace to endure the journey and the presence of mind to see how we might bless others through our tribulations. We have comfort in the notion and promise that we will be together with her again in His kingdom of Heaven.
****This is where you come in!!****
In July, there is an MLD conference in Pittsburg, Pennsylanvia. Cori's MLD specialist is also in Pittsburg. She will be due for another check up and updated care plan from her specialist this summer. We are hoping to raise the funds to get the Skolaski family back to Pittsburg! This will be crucial in maintaining the best care and comfort level for our little Sue bug. It will also give the Skolaski's the chance to meet and talk with other families affected by MLD. The money raised will go toward plane tickets, hotel costs, as well as food and any other travel expenses. Anything beyond that will go towards her ongoing medical care costs, i.e. medicines, doctor's visits, medical equipment, etc. Thank you for showing the love of Christ to this precious family and this beautifully special little girl! Words cannot express how greatful we are for any donation you can make.
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