Alison is the mother of two adorable little boys, each with a rare disease. Her youngest son, Grant is such a bright spot in the pompe community. They share his story and his accomplishments with us all, instilling much needed hope. She shares their unique story with us today.
“When Grant had his newborn screening heel prick done in the hospital I never imagined that I would get a phone call that his newborn screen was abnormal. We had been a family of four for only eleven short days when our world was completely turned upside down. I was driving our four year old, Connor, home from preschool when I received a phone call that quickly changed our life forever. Doctors appointments were scheduled for three days later and the only things we learned about Pompe disease in the days leading up to his appointments were absolutely devastating.
We had hoped and prayed for a second baby for a long time. The road to having Grant was not an easy one. Without infertility treatments and IVF we would not have our kids. IVF was not something we ever expected to do but without it we wouldn’t have Grant. We are so thankful for all of the advances in modern medicine. Rare diseases are not typically screened for when you go through IVF. If you know of a rare disease that runs in your family a test might be able to be developed to screen for it, if that is something you are wanting to have done. We had a healthy 2 year old at the time and chose not to have full carrier screening run on myself or my husband.
Grant was born at the right time and in the right place. The timing of everything with him is pretty incredible. We were in the middle of the IVF process in March of 2020. When Covid closed everything down that included our fertility clinic. It was really hard to have to put the hope of growing our family on hold. Grant was born in February of 2021 and Pompe disease was added to newborn screening here in Indiana in July of 2020. Grant was the first baby here to diagnosed from NBS with Pompe disease.
We went into the appointment where Grant was diagnosed hoping it was either the slim chance of a false positive or late onset Pompe. However, neither of those were the case. Instead that day we were told Grant had the most severe form of the disease, Infantile onset. We didn’t know then all that we do now and felt very unsure of what his future would look like. That day I asked if they expected Grant to be able to do some things? Our Genetic counselor quickly said, “We expect him to do ALL things!” I have told her many times since that day, that her saying that has gotten me through some of my hardest days. Our genetic counselor is a true blessing and I am so thankful for her. That day Grant had his first EKG and Echo at just 2 weeks old. We met with Grant’s cardiologist after his EKG and Echo and he told us that Grant’s heart was completely normal and to count that as a win for the day. On an already overwhelming day we didn’t realize how big of a win it was that day for him to have a normal heart. We know that now.
Grant was diagnosed with Infantile Pompe disease as two weeks old. He was able to begin treatment before ever having a symptom of the disease. Weekly infusions that take almost an entire week have definitely changed our life but we are so thankful for the treatment he is able to receive and for newborn screening.
After Grant’s diagnosis it was suggested that my husband and I have full carrier screening run on each of us. When we had this done it obviously came back that we each carried Pompe but it also came back that I carried Hemophilia B. Hemophilia is passed female to male. Any male child I have, has a 50% chance of having hemophilia. We have two boys, so, we did a cheek swab on each of them to screen for hemophilia and mailed them off. Our genetic counselor called about a week later with the results. Sitting in my car again, this time in line at Chick Fil A, my phone rings. Our genetic counselor says, “I have the hemophilia results, Grant doesn’t have it, but Connor does”. We were relieved that Grant wasn’t going to have to navigate Pompe and Hemophilia but also shocked that Connor had it.
Without Grant’s diagnosis we likely would not have known about Connor’s hemophilia until he had a big injury or a surgery. We are so thankful to know about it since it is treatable. In a matter of months we were dealing with each of our kids having a rare but treatable disease. Over the past 16 months we have learned a lot about genetics and science and once again find ourselves so thankful for modern medicine. It is definitely hard and frustrating to not fully know what it is to come for Grant. He is expected to do well but my genetic counselor is always reminding me that Grant, and kids like him, are rewriting the history of Pompe. I am someone who always likes a plan and with this diagnosis I have had to accept that we just have to take things one day at a time.”
Their strength as they tell their story is awe inspiring and an important one to tell. Each story has special considerations that shed some light on the complexity of learning about rare diseases. Many of us are grateful to know this family and watch them grow on their journey.
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