Fort Worth, Texas,
07
March
2017
|
09:04 PM
America/Chicago

Inspiring Story Sheds Light On Pompe Disease

A mom chronicles her daughter’s battle with rare neurological disease

A little more than a year ago, Ambrea Jones knew as much about Pompe disease as most of us who watched President Donald Trump’s first address to a joint session of Congress. During his speech, President Trump introduced Megan Crowley and, in the process, her rare disease to the world.

With Megan’s story, President Trump made Pompe a trending topic on the Internet. As Ambrea watched the speech, she could only hope it was the beginning of some much needed attention for the neurological disorder.

Ambrea’s daughter, Atia, was diagnosed with Pompe at Cook Children’s Medical Center when she was 5 months old. At the time, she had never heard of the disease that has forever changed her family’s lives.

“What is it? How do we fix it? Is it something easy?” Ambrea remembers asking doctors after being told of Atia’s diagnosis. “It absolutely has not been easy.”

Pompe, or Pompes, disease is caused by a lack of alpha-glucosidase (GAA). Without this enzyme, the body cannot breakdown glycogen which is the molecule that we use to store the energy from sugars. Glycogen builds up in muscle tissues, including the heart. It can present at different ages, depending on how much enzyme activity is present.

Infantile onset is the most severe. Without recognition and treatment, most infants will die of heart failure by 2 years of age. Older children and adults often have severe muscle weakness, affecting the muscles that allow breathing.

“As with many neuromuscular disorders, brain function is normal, leaving these individuals trapped in a body that is too weak to respond to commands,” said Warren Marks, M.D., medical director of the Movement Disorder and Neurorehabilitation Program at the Jane and John Justin Neurosciences Center at Cook Children’s.

Treatment involves at least biweekly intravenous infusions enzyme replacement (Lumizyme). Early treatment with enzyme replacement can slow the progression of the disease.

Dr. Marks was part of the trials to get the enzyme treatment approved. Atia is now one of three children currently participating in the therapy at Cook Children’s.

It was Feb. 23, 2016, when the Jones’ family journey with Pompe disease began. Ambrea picked up her daughter from day care and was told Atia wasn’t feeling well. Ambrea took Atia to Cook Children’s where she was diagnosed with RSV.

Doctors ran an X-ray and noticed their first clue to Pompe – an oversized heart. More testing continued and more specialists were brought in to care for Atia. “That’s such a good team at Cook Children’s,” Ambrea said. “They were the ones who put two and two together and suspected Pompe.”

Doctors sent tests to Duke University, one of the nation’s leaders in Pompe treatment, and it was confirmed that Atia had the disease. She was then put on Lumizyme.

For the next three months, the Jones family lived at Cook Children’s. Unfortunately, the answer of the diagnosis brought more questions and fears.

“Dr. Marks told us to prepare for the worst,” Ambrea remembers. “He said there was a chance she may not make it a year or even to 6 months because of the adverse effects of Atia’s heart. The fear of losing your child’s life was the hardest thing. But seeing our little girl fight … it drove us, my husband Tim too, to fight. Your child may have a death sentence … no one expects to hear that. But now look at us, a year later and so far, we’ve made it.”

Ambrea said each patient’s journey with Pompe is different. Megan Crowley is wheelchair bound. Atia has a G-button and a port, but right now she’s not sure what will happen in the future.

Tim and Ambrea are carriers of the gene that produces Pompe disease. Their oldest daughter, Amaria, has been tested for the disease and is a carrier, but will not be affected by the disease. Giving the family some relief in what has been a trying year.

Ambrea says the other saving grace for her family has been the care they have received at Cook Children’s. She calls pulmonologist, Karen Schultz, M.D., “my girl.” She says Matthew Dzurik, M.D., a cardiologist at Cook Children’s, helped to discover the diagnosis early and put her in touch with people at Duke for appointments with physicians there.

Dr. Marks has been the glue and constant throughout their daughter’s care and the physical therapists, speech and occupational therapists have “worked our little girl out” both at Cook Children’s and their home.

Atia has a long road fight in front of her, but Ambrea hopes that with the mention of Megan Crowley sheds new light on a devastating disease.

“I know the president can be polarizing,” Ambrea said. “But even if you aren’t a supporter of the president, without a mention of Megan Crowley most of us probably wouldn’t know about her and now Pompe disease. My prayer is now more people will be talking about Pompe. That maybe more people Googled it and that action to better care for our kids who have this disease.”

Comments 1 - 9 (9)
Thank you for your message. It will be posted after approval.
Pamela Gill
02
March
2017
This is my Grand daughter, who I call "tt". It's been a long hard time for our family, but GOD, Cooks and Duke have been wonderful! !!! Please everybody, help make it known that Pompe needs to be included in newborn testing. IT would also help tremendously beneficial if FDA approvals were not so lengthy, and available to those who need these ground-breaking drugs.
Margie Ball
02
March
2017
Our daughter was a Child Life Specialist at Cook Children's Hospital. We cannot say enough about this wonderful hospital and we are so glad that Atia is in their care. Atia is a beautiful child and we will be praying for her and for her special family that she is blessed with. May God be with you always in all ways.
Rikki Smith
02
March
2017
Ambrea....I think about you, Atia and your entire family all the time. Y'all look amazing and so proud to see how great Atia is doing. Give her big hugs for me!!
Sydney
02
March
2017
I'm so sorry this happened to your family . Praying that your sweet girl keeps fighting .xoxoxo
Tamarra prater
08
March
2017
Heart felt story, but God is more than able. I am praying for Atia and your family. Stay strong and be of good courage. God specializes in miracles and that's what I'm believing him for in Atia's case. Much love and blessings to your family..
Allison Santoro
08
March
2017
I have been a pediatric nurse for over 40 years and our family's journey with Pompe disease is what led to my career choice. My baby sister, Kelly, showed the same symptoms as Atia and that was back in 1964. The disease was almost unheard of at that time with only 500 documented cases on record. Doctor Carolyn McCue and Doctor Howard McCue, of Medical College of Virginia, now Virginia Commonwealth University, were pioneers in Pompe Disease. They diagnosed and cared for Kelly until her death in September of 1964. She only lived 9 months and back then, they only treated the cardiac symptoms. Research has come so far and these children are living so much longer. Please know that you and your child are in my thoughts and prayers. I am so glad your child is being cared for at Cooks. I worked there many years ago and it is a wonderful hospital. Our family also worked with research specialists at Duke all those many years ago. I am happy to see how far Pompe research and treatment has come, but pray for more research, more drugs and an end to this disease. God bless and keep you and your family.
Bernadette Amao
08
March
2017
I will keep your beautiful daughter and your family in my prayers. Don't forget to care for each other as you care for her too. God's blessing on your family always.
joyquise clark
05
May
2017
Glad she doing good me and her baby brother will keep her and our prayers.
Sarah Parker
28
July
2017
My son was diagnosed at 3 months old with infantil onset pompe disease last year in july 2016 his heart too was enlarged he was diagnosed at Duke university in Durham North Carolina and we live in fayetteville nc we will be attending the conference in August on the 11 and 12th. He is on two different heart medicines he has a port line a g tube and a heart recorder. He gets treatment every week and ivig once a month they too said to prepare for the worst but he is not 15 months old and doing things they said he would never do. You are welcome to email me to chat we need to stick together. Our older children don't have the disease not are they carriers for it they don't have the same father and mother between us. We are truly blessed for our children to be here when they show us how strong they really are that makes our confidence that much stronger. Love and blessings to your family. Remember Rare Diseases together we are strong.