Denali's Chair Lift

Hi, my name is Darcel. I raise two beautiful girls, Cabella and Denali. Denali is special needs. We have recently been approved for a vehicle with a special loan program for families in our situation (ALNM Loan). I have found an option on a special lift for Denali, that would greatly benefit her as she grows on me. It is called a BraunAbility Turny Evo Tranfer Seat. United Acces, in Albuquerque, will be instaling the lift. We have a quote for 10,000. My family and I would greatly appriciate the community comming together, once again, on Denali's behalf. The Maes family will be doing a get together soon.

I would also like to mention, if we can double the 10,000, we can help another family in need. Not only wanting to raise money for my little girl, but another family who can bennifit from a lift in their vehicle. Down below is little back story on our little Denali.

There are only 7 patients that have been reported in the medical literature and this gene was just recently reported to be associated with disease in 2019. Therefore, we do not have any access to other patients that we know with this condition

Summary:

"PCYT2 related spastic paraplegia is caused by mutations in the gene PCYT2. It is a complex hereditary spastic paraplegia with progressive atrophy and hyperintensities in cerebral white matter. This is extremely rare and there are <10 patients reported in the medical literature. The reported patients had a variable age of symptom onset with developmental delay and regression, progressive atrophy, hyperreflexia, spasticity, and seizures. Most of the patients have nystagmus or other ocular findings. Denali is completely blind.

PCYT2 related spastic paraplegia is inherited in an autosomal recessive manner. Parents to an affected individual are obligate carriers and have a 1 in 4 (25%) chance to have another affected child with PCYT2 related spastic paraplegia with each pregnancy. "

Denali's Medical summary: "Denali is followed by the Children's Hospital Colorado Metabolic Clinic for her diagnosis of PCYT2 related disorder. She initially started showing signs of respiratory distress and differences in her development at 3 months of age. In addition, she has experienced failure to thrive, respiratory insufficiency, hypotonia (low muscle tone), hepatomegaly (enlarged liver), roving eye movements, macular atrophy and progressive white matter involvement on MRI. She has trialed management with serine and choline supplementation."

Eyes - Denali's diagnosis is retinal dystrophy. The electroretinography (ERG) that she had done showed a severe dysfunction of the rods and cones in her retina (abnormal functioning of her retina). The retinal dystrophy is secondary to her PCYT2 mutation. Unfortunately, since the PCYT2 is such a new finding, there isn't any available information for that.

Lungs - Tentative diagnosis of Nehi - GGO on HRCT and clinical S&S tentatively (8/10 NEHI score) and an HRCT mostly consistent NEHI, but her other symptoms give me pause - big liver, poor tone and concerns about a metabolic condition. I would like more information before doing more invasive things like lung biopsy. With a tentative diagnosis of NEHI oxygen is the treatment for now.

She is so happy and so loved by everyone around us.

"Maybe you have been assigned this mountain to show others it can be moved"