That One December

Because of some unfortunate events this December I was hesitant to post anything about the central line and transfusion that took place on Dec 21st-22nd. I didn't want to jinx JoJo and cause a delayed allergic reaction or infection to occur. Now that it has been a week, I think it is safe now to say that the central line is looking great and the ERT (enzyme replacement therapy) went splendidly!

Because it was our first ERT we had to take vitals every 15 minutes for the first two hours, then every 30 minutes for the last 2 1/2 hours. All of her vitals were perfect and there were no signs of any allergic reaction. Since the infusion, we we have noticed JoJo having a little bit more energy than usual. She is incorporating her legs into her play and rolls to her sides more often which is a huge improvement. These are small victories, but exciting to see as parents. We just want her to enjoy being a baby kid and we want her to learn through play just as other babies do. ERT will slowly help her body build muscles needed for rolling over and other awesome baby moves. Along with gross motor skills we are hoping her heart will shrink to a normal size which in turn will help with the overall function and efficiency.

We consider JoJo's PICC line the newest member of the family. It takes more effort to maintain than a gold fish. Since the catheter tunnels through her skin, it is more prone to infection. We have to keep a dressing on it 24/7 and flush the line every 24 hours. It's interesting to play doctor every day on your kid. Something I was never expecting as a new parent. We have to scrub the cap and line with an alcohol pad for at least 30 seconds, inject 3ml of saline, then 3ml of heparin. I courageously changed a dressing for the first time and it was stressful, to say the least. I have to wear a mask and sterile gloves and redress it in a timely manner.  Doing this while JoJo was screaming and crying at me was not ideal, but we managed. The down side to the PICC line is that we can't do baths like we used to. The line cannot get wet or be submerged, so the bath is a little shallow... Not optimal for splashing and leg kicks. Bath time was the only time of day where all of her limbs were able to move effortlessly. She would smile and scream and was simply pleased as punch. Now it's a shallow bath with careful sponging around the (not so waterproof) waterproof PICC line dressing cover. Don't worry, bathing isn't terrible for JoJo. She still loves it and I am sure the warm water on her legs feels great after a long day of learning new tricks. 

I have been getting so many comments about how positive we are and how strong we are as a family. Thank you for your sincere compliments! Yes, we are being strong and we are staying positive. But, please to those who are reading, please don't think that we are handling this tragedy entirely with grace. Our hearts ache and our hopes and dreams for our child have been altered. I want other families to know that though we are putting on a brave face, we are still heartbroken. Some days are easier than others. Then, on a rare occasion, the world seems like it is going to end and punching a wall or screaming into a pillow seems to be the answer (all of our walls are still intact). But it isn't going to end, it is just going to be hard. We won't love every step, but we will make it through. Heavenly Father has a plan for all of His children and it is a perfect one. But, in its perfect design, it is still hard to accept at times. We all will pass from this world, some earlier than others. In our hearts we know that our family will be together again in a more perfect world, with our perfect healthy bodies. What is the purpose of this life if we are to just lose the ones we love? Josephine is our baby girl and we will love her and do everything in our power to care for her for however long she is with us. We will always be her parents and she will always be our daughter for all eternity.

Our family wishes your families (belated) happiest of holidays and a better new year!

Seguras

For the Love of Jo

She is up and at 'em! Surgery went well and she is recovering nicely. Once she got into surgery, the doctors agreed that she was actually too small for a Broviac Catheter and instead they went with something called a Power line, which sounds way cooler in our opinion. It was hard to send her back to the OR but we were confident she was in very capable hands. We will be admitted to the hospital tonight for observation. Then the real fun starts tomorrow when we have our first Enzyme Replacement Therapy (ERT).

As a parent, I feel like this is the first day of a new chapter. "Normal" parents of an almost 8 month old are celebrating the first crawl, belly laughs and maybe even the beginnings of first words, but I feel like we are starting all over again. I am strangely excited to start this new normal of central lines, bi-weekly treatments, physical therapy, swallow studies, and I am sure much more. I am excited because now we can provide the best for our baby to make sure she can grow into her potential. Before, we were just going through the motions and hoping and praying that maybe JoJo would roll over or really let out a hearty laugh, but that's because we didn't know that she was struggling to LIVE and that Pompe was really behind her shortcomings. 

I am sure JoJo will be uncomfortable after this surgery and she might not like having treatments, but in time, I think she will love her new life. I hope she is able to gain the motor skills that will empower her to play with the toys she loves and will help her finally start being able to scoot around. She so badly wants to do "normal" baby things. She just needs some special JoJo juice to get her going. 

Thank you for your unfailing love and support!!

Segura Family 

(Jo after surgery... Loving the pain killers!)

21st of December Surgery Information

Thank you for all of the feedback from our last post! We can feel the love from all of you. From dinners, care packages, heartfelt notes and texts. We really can't thank you enough!

Josephine is scheduled for a surgery on Monday December 21st at Seattle Children's Hospital to have a central line placed. More specifically a Broviac catheter. This will be connected to her Inter Jugular Vein (IJV), then tunnel through the breast tissue shown in the image below.

 

This catheter will make Josephine's treatments go more smoothly.  The Enzyme Replacement Treatment (ERT) will take place every other week. Infant veins are very fragile and are generally hard to find. Over time, if we didn't have the Broviac Catheter, we would have to switch to different injection sites all over her body so that we would not wear her veins out. The risk of blowing veins out or even missing a vein would cause more unnecessary problems. We will not have to insert an IV for each treatment, instead we will be able to connect to the catheter in a quick and painless manner.

In order for this to be inserted, JoJo will have to be placed under anesthesia. There is risk to this procedure given JoJo's health and her heart's abnormal function, but many children with similar circumstances go through similar routine procedures without any problems. Tony and I have prayed and discussed these risks and we are confident we are making the right decision for JoJo. 

Following the procedure, we will be admitted for 24 hour observation. During that observation we are hoping we will be able to start treatment!! This is great news and it is one step closer to getting JoJo's body to break down the glycogen built up in her heart.  The first few treatments will not yield immediate results, but over the course of a few months, the doctors expect to see her heart return to normal size. Other results will include more energy and added help to build muscles.  We can't wait to see JoJo get the extra boost from enzyme treatment so we can start working on developing her motor skills.

We will post an update after surgery on Monday! Thoughts and prayers are welcome and appreciated.

With Love,
Seguras

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.