Family Needs Help Relocating Sons with Pompe For Medical Care
November 2, 2014
My name is Jenni, I live in Adrian, Missouri (60 miles south of Kansas City Missouri) – and I need your help.
Our sons Gavin (22 months old) and Gunnar (7 weeks) were diagnosed through our states newborn screening for Pompe. In January 2013, Gavin was the first newborn through the state of Missouri to be screened via newborn screening and to be positive for Pompe disease. Currently, a few states are implementing the same test– but many are not.
Pompe is a rare genetic disorder, the best way to describe it is that these babies don’t make the enzyme that breaks down the glycogen in their bodies, therefore without treatment, such as an enzyme replacement therapy, (which are long infusion days, 6/8 hours and every other week) their muscles would waste, resulting in perm disability and death. However, only about 20% of the medicine goes into the muscle, resulting in residual muscle weakness and other health concerns. Their form of Pompe is more rare due to their genotype. I’m an adult onset carrier, my husband is an infantile carrier. They have a deleted gene and spliced gene, resulting is both boys having Pompe, however the disease presents differently in them, with a unique form comes many questions but not many answers, so that’s an obstacle in their medical care.
As a parent, I’m wanting to get them the best in care and therapies. I’m relocating us to North Carolina to be close to Duke and their team of Pompe specialists to care for these unique babies. There is treatment, but it’s not enough. Gavin doesn’t have speech, he is ambulatory but weak, which results in daily falls and feeding issues. Gunnar has so much still with his development that it’s best to relocate while he is very young, especially since his heart is affected. I’m asking that anyone help as little or as much as they can. I can not express my deepest appreciation for everyone’s generosity and positive thoughts.
We’ve created a fundraising page for those who can may be able to make a contribution. Thank you for your support!
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