Pompe... Like the City?

I am creating this blog for family and friends to be able to stay informed and up-to-date on JoJo's treatment for infantile Pompe Disease. Jo was not progressing as I thought a 7 month old should be. She had low muscle tone and seemed to be very floppy and 'melty'. When I took her in on Friday December 4th for her 6 month old shots (we were behind schedule on vaccinations due to a cold), I asked the nurses to take her weight and it had decreased since last weigh-in. The doctors decided to take x-rays and run some blood tests to check to see if there were any infections and to make sure her liver was working properly.

We came back on Monday, December 7th, to look over the results of the tests. The x-ray showed an enlarged heart and the liver had some abnormal numbers. Doctors didn't seem too concerned at the time, but still set up an appointment for us with child development the following day on the 8th of December.

After discussing our concerns with the doctor he went to consult with the Geneticist. The Geneticist suspected a disorder and asked for an EKG. The EKG was congruent with classic cases of Infantile Pompe Disease. Usually a fatal disease if it goes untreated. We were devastated, to say the least. We then had an echo done to get a better picture of Josephine's heart, which also confirmed findings that were typical for a child suffering from Pompe Disease. Some of the other symptoms, besides an enlarged heart, include her larger tongue, not hitting milestones for weight or motor skills (regression of motor skills), and low muscle tone. Conclusive evidence comes in the form of additional blood work. For the disease to manifest itself in an individual, the individual must inherit the mutated gene from both parents.   The results confirmed that JoJo received two recessive genes that we, as her parents, both carry. Statistically, all our future children will have a 25% of being diagnosed with Pompe Disease, 50% will carry only one copy of the recessive mutated gene but not manifest the disease, and 25% will not inherit a copy of the gene at all.

We spent the next two days following her diagnosis in the hospital learning more about this rare disease. Megan's parents rushed up to be with us and provide their love and support. Following our discharge on the 10th of December, we came home to finally try and act normal over the weekend before we had another slew of doctor's appointments at Seattle's Children Hospital.  We were able to relax, catch up on sleep, decorate for Christmas, and give JoJo extra love.

On the 12th, Megan's parents had to regretfully return home for the week to get things in order before coming back up to spend Christmas with us.  Tony's parents literally showed up just before Joe and Shelley ran out the door with just enough time to tag them out.

On the 14th we met with the pediatric cardiologist at Seattle Children's that confirmed the things we had already learned.  He taught us some more about what JoJo's heart is going through, and what Pompe Disease does to her heart. Her body does not produce an enzyme (alpha-glucocidase) that the body traditionally uses to break down glycogen into glucose. Her body, and her heart in particular, stores the glycogen in the cellular walls because it does not get broken down and used to build muscles. This has led to her heart getting bigger, also known as hypertrophic cardiomyopathy (HCM). It caused the heart to work harder, and without treatment it would eventually fail. Fortunately, with the Enzyme Replacement Treatment (ERT) the synthetic enzymes will break down the high levels of glycogen, reducing the size of her heart and help her build muscles. It is not an immediate process but will rather take place of the next few months during her biweekly enzyme infusions.  Because it is not an immediate process, it brought us to another decision point: should we or should we not have a surgery done to emplace a central line.  A central line would make the biweekly infusions much easier on her little body by avoiding the blow-out of her tiny veins among other issues.  The drawbacks to the surgery would be that JoJo has to go under anesthesia to have the operation which always presents an issue when the individual is weak.  All our doctors were confident that Jo was strong enough to handle the operation, but were sure to caution us of the unlikely scenarios that Jo not do well during the operation. We talked this decision over and over, and asked our parents for their opinions, ultimately deciding that the central line would bring JoJo the most comfort over the long-term and that the Lord would take care of her during the operation.

On the 15th we had a very short visit to the Seattle Children's Hospital to meet with the geneticist. We reviewed the disease in more depth to include its severity (Jo is right in the middle-to-less-severe range). This visit was the last box to check prior to getting the "OK" to move forward and get her a central line and start treatments as soon as the 21st.

We will continue to keep our friends and family involved and informed. We are so thankful and so blessed to have so many people reach out to us to show support. Thank you all and we love you.