Tag: Krabbe

Pittsburgh, Round Four

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Today we had our quarterly visit with Dr. Escolar in Pittsburgh and things went mostly well.

Overall, Tori is still doing really well given her early-infantile form of Krabbe. She even improved in her visual/cognitive understanding from a 2-3 month level to a 5 month level! Vision therapy has been helping!

However, as we suspected, Tori’s blood oxygen levels aren’t consistently where they need to be. They put her on .25L of oxygen while we were here to see how her stats improved and they went back to normal.

Dr. E suspects that her breathing has been affected by her distended belly (she’s had a lot of gas in the past week) and by a need for deep suctioning (for which we didn’t have the correct supplies until today) to clear more secretions from her airways.

They did a belly x-ray and found that her colon was indeed enlarged, so we will begin doing a few different things to relieve the gas. They also did a chest x-ray noted that her lungs have some atelectasis, so we will begin treating that immediately with a nebulizer, oxygen, and some other therapies.

Tori will also begin having .25L of oxygen at night, just to help her out. Dr. E believes this will also help her sleep soundly FOR THE FIRST TIME because her body won’t be working so hard to breathe. Mommy is VERy excited about this prospect. This will also give her more energy during the day.

We knew some oxygen would likely be coming soon so we weren’t surprised, but of course we’d rather her be on room air for longer. At least it’s only at night and it’s a very small amount just to help her heart and lungs work less.

Dr. E will be tapering Tori off of baclofen (a medication for muscle tone) because her tone is so good and because she thinks that will also help with her breathing. It will be nice to remove a med from her routine! Tori had been on the smallest possible dose of baclofen anyway so it won’t be a drastic change for her body.

Because Tori was her only patient today we got a lot of face time with Dr. Escolar and had the opportunity to discuss many things with her that we hadn’t been able to before. We learned a lot and feel more prepared for future decisions.

This was a quick trip this time and we are back home already. Each visit brings added therapies and treatments and we’re more than ready to have nursing assistance in the home. But, for now, we’ll continue doing things on our own for as long as we can.

Please pray for Tori’s belly and for her lungs – we hope we can treat these successfully at home and not in the hospital.

Response from Department of Health

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This is the letter that several people have been sent in response to the Krabbe screenings:

Sent: Friday, November 06, 2015 12:32 PM
Subject: Re: Krabbe Screening

Thank you for writing. The Department of Health will do everything in its power to ensure that babies with genetic diseases receive timely and appropriate care. We understand that these cases can be devastating for families, and are working diligently to implement the act efficiently and with compassion.

The law passed by the legislature calls for the Newborn Screening Advisory Committee to approve any newborn screening test changes before they are implemented. In the coming weeks, the Department will be meeting with the Committee to ensure we are moving forward to protect children and their families. The department cannot move forward without the approval of this committee. The plan is to begin testing in February 2015, pending approval of the committee.

Though the Krabbe legislation, which was signed into law in October 2014, called for implementation within 60 days, resources were not allocated to appropriately administer these screenings. While the budget impasse is ongoing, and adding these new screenings could cost up to $3 million dollars annually, we are looking at ways to begin approved testing regardless of the challenges.”

Please be assured that the Department is committed to improving the health of all Pennsylvania newborns.

 Respectfully,

Karen M. Murphy, PhD RN

Secretary of Health

Pennsylvania Department of Health