Ear Tubes, Ports and G-Tubes! Oh My!

Before we get into the surgery details that will take place on May 11th I want to say THANK YOU for all the love we received for JoJos first birthday. I really can't thank our friends and families enough! It truly was a special day for us. In December Tony and I were not expecting to be celebrating a year of life with Josephine. But a special thank you goes to the doctors and nurses who work so hard to keep JoJo healthy and happy.  With their help we were able to have a week full of celebration!!

At Madigan we receive the best care. Hands down. Josephine's Doctors and nurses threw her a birthday party complete with a vegan carrot cake and vegan chocolate hazelnut frosting...

the start of the madness

aftermath 

She loved every second of smearing her frosting everywhere. She was all smiles and enjoyed the attention. It brought me to tears witnessing how much these doctors and nurses LOVE Josephine. Sometimes I don't even feel like her mother. Some days I just feel lucky enough that I have been put in charge to take care of this remarkable child. Despite her trials she truly brings light and Joy into this world. When I get to see others witness her spirit I can't help but cry and be so thankful I get to spend my time with her. It is a true gift I get to learn from her and to help her through this life. 

Little girl not only had one birthday party but TWO! Josephine was able to see all of her grandparents in one week (both sets from different states)! Also, my friends from college made the trip up to come celebrate her first year. I was able to spend a ridiculous amount of time making decorations for a backdrop so we could take those Pinterest inspired first birthday pictures. Pinterest should come with a warning label... "Warning Pinterest inspires you to spend a ton of money and start projects that are actually harder than the blogger portrays" Thats just my opinion! Anyways, we had a wonderful sunny day in Washington state so we could enjoy good food and friends. 

preparing to destroy

eyeing the prize 

cake shashin'

mom and dad helping

mal helped too

Josephine's birthday week is one to remember! It was so fun and I can't wait for when she turns two! any theme ideas??

Now, lets get to business... Surgery is scheduled for Wednesday 11th of May. Josephine will have three procedures done at one time just so we do not have to put her under more than once. The less stress on her heart the better! She will be getting ear tubes, a port (like chemo patients) and a g-tube. We (Me, Tony and the Doctors) all agree these procedures will improve Josephine's quality of life. She will be able to take real baths again and potentially do physical therapy in the water! She has had fluid in her ears for a few months now and she is always tugging on them so we all agreed that it would be helpful for the fluid be removed to prevent ear infections and to help further speech development. We are all confident she will do great and will be a quick recovery. Our goal is to be out before Friday night! Prayers and well wishes are always appreciated! 

Love,

The Seguras

BIRTHDAY MONTH

First off, today, April 15th is International Pompe Day. If any are interested, click HERE for information about making a donation to help AMDA reach their goal of $50,000.00.

Easter dress

best friends

It has been awhile since the last post.  Don't fret, it's because our days and weeks have been "normal"!  JoJo is doing great! Not much change from the last post. She loves going to the dog park and going for walks. Really anytime she is outside she is content. She has been healthy and SUPER happy. She loves to scream and talk to us. This kid has a lot to say about life. To bad I can't understand her because I am sure she has some pretty insightful things to say.

Here is what is coming up for the rest of this month...

****schedule change: surgery is moved to May 11th***Josephine is getting a G-tube (permanent feeding tube) and a new port! These two procedures will happen simultaneously just so we we limit the times she is put under.  Although she is in great shape for surgery there is still a higher risk factor for her than other children given her heart condition (cardiomyopathy). The doctors and Mom and Dad are very confident that she in perfect health and this surgery will be a piece of cake!

Speaking of cake.........

April 27th is JoJo's birthday!! And what a glorious birthday it will be. I believe that if we didn't seek out answers for our concerns about JoJo's health we wouldn't be celebrating her first year of life. My playful happy baby was fading quickly in December... But today, she is a JOYFUL, smart, sweet and sassy spirit who we love so dearly. We will celebrate her first year of life at the hospital while getting her weekly infusion! Its only appropriate. We want to celebrate with her caregivers who put so much time and energy into taking care of her. We celebrate them for giving us the opportunity to celebrate JoJo's birthday.

thanks to our nurses and doctors infusion days are always a blast!

Thank you to those who continue to pray for our family and who continue to reach out to share their support. There is no way we could do this without our community.

Rare Disease Day!

Today is Rare Disease Day! I only just realized Rare Disease Day is planned for the last day of February because leap year only occurs ever four years... hence, 'rare'... duh Megan! Next year it will fall on February 28th because, you know, we still have to remember the rare diseases no matter what year it is!

When I go to the hospital with JoJo we usually run into another mom/dad and their special needs child. What surprises me is I keep seeing new faces. We go to the hospital often so I would think that I would see at least one familiar face! Unfortunately, I am coming to find there are so many children who suffer from some sort of disease. Some more common than others but a disease none the less. My eyes are opened up to a very large and hidden world. I would see children in wheelchairs, hooked up to ventilators or feeding tubes and I would just think "oh thats sad" or "poor kid" and that was the end of my thought process. But there is so much more to these kids stories. Don't judge a book by its cover comes to mind. My judgement would be short and just accept the child or individual is sick and that was that, end of story. Now, JoJo is one of those kids and I am one of those moms and we are one of those families. Those who are afflicted aren't just sitting in a wheelchair, there is so much more to their story. These families are going to appointments, doing daily physical therapy, managing alternative feeding systems, reading the latest medical study (looking up every other word on google to comprehend the material), and hoping/praying/wishing for a breakthrough day and night. These rare diseases are life consuming and there is no set journey, no Yellow Brick Road. Every case is different. These families are bravely putting one foot in front of the other not really knowing where they are going. The extent of JoJos future medical needs is unknown to us. We have a good idea of what to expect based off of other children with Pompe but still no definite answers. Thats what you get with 'rare'. With the National Organization for Rare Disorders they are working to light the way for these families and to try to help give us direction. If anyone is interested, you can make a small donation to the National Organization for Rare Disorders. There is a orange button located in the top right of the page! Thank you for your consideration.

Now, lets get to whats up with JoJo!

ERT #5

Josephine is doing great. Well, currently we are still battling a cold and she has had a nasty cough for about two weeks now. Just normal baby kid problems but still scary for any parent. No serious fevers and she is still breathing well so any extra medical interventions are not necessary at this time. We will be sure to double check she is all squared away to receive her ERT this coming week. As long as she doesn't have a fever we can juice her up!

This past week we had a physical therapy appointment where JoJo was assessed to see what type of progress we have made since starting ERT. She was originally assessed at seven months and scored in the 0-2 months range. Now, at ten months she can sit up by herself for minutes at a time. We don't really have a age range because she still can't do baby push ups which lead to crawling. So, really, she is pretty immobile but now that she can sit up which will help her start working on core muscles and other skills which will help her progress. When she gets her food through the tube she sits up on the couch and plays with her toys and watches Daniel Tiger. She loves to rock back and forth dancing to the into song. The kid has some serious dance moves despite suffering from moderate Hypotonia... Take that Pompe!!

lounging after physical therapy

Other than our previous visit for physical therapy and her cough we have been plain boring. In my book boring is best!! Thank you for following along and thank you for the random notes and little gifts for Josephine. These kind gestures truly warm our hearts and fuel us to keep on plugging along.

Love,
Segura Family

Four Down Forever to Go

**Disclaimer: I am simply a mother who has Googled and put information into my own words. Any information provided below should be confirmed by a medical professional.**

sitting pretty

JoJo has had four Enzyme Replacement Therapies (ERT) so far and they have brought this baby back to life. Slowly but surely she is gaining strength and is able to show more of her joyful personality. I titled this post specifically to address the importance of her ERT.

I am frequently asked how long she has to receive treatment. I wish I could say that all she needs is a vaccination every six months or only needs to take a little pill every morning. Unfortunately this treatment is far more complex. Let me put it simply, Josephine would die sooner than later without ERT.  Patients with Pompe Disease have deficient or absent acid alpha-glucosidase (GAA) activity.  ERT provides an external source of GAA, a lysosomal enzyme. Here is a link to the Pompe Community. I have found it very helpful.

So, every two weeks we go to the hospital to do a transfusion. Typically this is an all day ordeal...

0800 Check into the Hospital and order the medication to be prepared
0845 Do initial vitals, check the body for preexisting rashes(IF the child is sick or is fighting an infection with a high fever you cannot continue with the treatment and will have to postpone--the reason for this is that the immune system may mistake the synthetic enzymes for the cause of the fever/sickness and begin to fight it off, kill it, and lead to ineffective treatments from that point forward, which I'll discuss further later on in this post)
0900 Start infusion
0930 Vitals, check for rash
1000 Vitals, check for rash
1030 Vitals, check for rash
1100 Vitals, check for rash
1200 Vitals, check for rash
1300 Vitals, check for rash
1400 Finish transfusion, vitals, check for rash 1420 Start observation period (which is basically continuing to monitor for negative reactions to the infusion)

1720 Final set of vitals and checking the body for a rash
1730 Head Home!!

When Josephine is hooked up to her transfusion she just goes about her business. We watch Daniel Tiger, play with our rings, cups, Sophie (the teething giraffe), and read books.  JoJo adores books. She flaps her little arms and makes a scrunchy face when I pull her books out. She loves to turn the pages and look at all of the pictures. After we are done with being hooked up to the IV we take a little walk and look at all of the fun things a hospital has to offer.  If anyone is running out of ideas to entertain their child just grab a ton of medical supplies.  Entertainment for hours guaranteed. We recently learned a cool trick from another Pompe friend, "J" who likes to play with blown up balloon gloves. 

Notice we do vitals and check for rashes OFTEN. The body can develop a allergic reaction to treatment at any given time. Usually there is a rash that shows up and there is a chance for the body to go into anaphylactic shock. I don't know about the other seasoned Pompe moms but I feel like I hold my breath the whole day and pray the day is extremely uneventful. One giant snooze fest and I am a happy mom.

Sometimes, children's immune systems immediately start to fight off the synthetic enzyme given during their treatments. Their bodies battle the enzyme with antibodies like it would any other foreign infection trying to harm the body. Generally doctors can predetermine if their body will react well by testing whether or not they are CRIM positive or CRIM negative. CRIM, Cross Reactive Immunologic Material, is a fancy acronym which tries to predict how a child will react to the introduction of a foreign substance. CRIM positive shows they have better chances of reacting well to treatment. CRIM negative shows that their body is more likely to create a antibody to fend off the foreign substance. In cases of CRIM negative patients, the next conversation is whether or not to start the child on a series of drugs that will reduce the body's immunologic response and essentially keep if from making/making as many antibodies. Weakening the immune systems obviously presents a series of risks, but by not taking the step to allow for ERT to take place presents a much worse certainty.  

Fortunately JoJo was CRIM positive, and the first four rounds of ERT have shown that she is taking well to the drug and it has positively effected her body. However, there is always a chance that the body will slowly reject the drug and eventually create antibodies to fight the synthetic enzyme and effectually reclassify a patient to a CRIM negative. The doctors have done an antibody check to get a baseline for JoJo, and will do another soon to see if there is any increased antibody activity that may cause us to begin taking further preventative measures. 

Overall, we have been blessed so far by doctors quickly diagnosing Jo, her being CRIM positive, central line surgery going flawlessly, not being allergic to the drug, and many other small miracles that keep her happy and pain free. More prayers, wishes, good juju is always appreciated. 

Thank you for your endless love and support,
Segura Family

KC Photography by Kyra Cummings

Tube-ular!!

This past week was a long week at the hospital. We had a mini sleep study done, met with all of Jo's doctors and drum roll....... got a feeding tube! I named this post Tube-ular because I can't help but laugh at all of the TUBES!! I want JoJo to be proud of her extra additions. She may be sick, but no one else can pull off tubes better than Josephine.

Tuesday Jan 5:
We initially went in for Jo's second ERT which went awesome with no complications whatsoever. After we were done with the treatment, the doctors wanted to measure how well her body expels CO2 from her body while she is sleeping. Her results weren't great but the numbers are not high enough to take any actions for breathing intervention. After a few more ERT treatments, the doctors are anticipating her numbers will improve.

Wednesday Jan 6:
After being discharged from the hospital, we went down to meet with JoJo's doctors in clinic. The Pediatrics Unit has set up an awesome clinic day so you can meet with all of the doctors in one day. You sit in one room and they all come to you!  Luxury, if you ask me.

First, we met with the developmental group and assessed JoJo's physical development. We were all amazed to see her improvements from just one month and really only after one ERT. She is moving so much more and is more interested in her toys and the environment around her. She is equivalent to a 4 month old in terms of milestones, to give you a better idea.

After that assessment, we met with Jo's primary where we just spoke about normal baby stuff... poop, eating, sleeping, shots.

Next, the nutritionist came in and we started to talk about JoJo's weight gain. Jo hadn't gained in 2 months so we agreed that we had to intervene and ensure she is getting the right amount of nutrients. Metabolically, JoJo's body works a little harder than normal so any wasted or missed calories can make a huge difference. We decided that an NG feeding tube was our next step and would require us to stay in the hospital until Friday for observation.

Before heading upstairs to be admitted again, we met with the cardiologist. We took an echo cardiogram (ultrasound) of Josephine's heart. This is actually my favorite part. Modern medicine and the technology amazes me, we watched the valves and chambers all move together to pump the blood through Jo's heart. Although, the images we looked at weren't particularly normal. The wall of Jo's heart is still very thick, but we didn't expect that to change with only one treatment. The other abnormal issue is that there is some pooling of blood in her heart because of the thickness of the walls. When the walls are thick it makes the heart 'rigid'. So, when it contracts to push the blood through the chambers it isn't able to contract all the way. I think of it like comparing a water balloon to a stress ball. The walls of a water balloon are thin and pliable, you can squash the water around with ease as opposed to a stress ball where you have to really work extra hard to move the contents around. (If there are any doctors or nurses reading this and would like to correct, me please do!) Because there is pooling, there is a chance of blood clotting and then that clot being pushed into a vein which wouldn't be ideal, so just a half tablet of baby aspirin was prescribed.

Once we got up to our room, the NG tube was placed. The nurses were awesome and did the procedure quickly and accurately. Although Josephine hated it, I was absolutely intrigued! The tube goes directly down through her nose into her stomach. Currently, we do 140ml of breast milk mixed with Alimentum four times a day. Then at night, we are doing a continuous feeding of 280ml over 6 hours. We administer these feedings via feeding pump and an IV stand. This is so we can set a certain time frame for the formula to be injected. This helps with not feeding her too fast and causing her to throw-up because, remember, every little bit counts! If we need to go out, we will feed her using a syringe and be careful not to go too fast. This is a lot to get used to and is very time consuming. But, once we get a good routine down, I am sure it will get easier. Since starting this regimen, Josephine has been sleeping a lot better. When JoJo sleeps, mom and dad sleep, and that is good for everyone.

new tube!

Friday Jan 8:
We were discharged and we headed home with all of our new duties. But, this was an important day because it had been a month since Josephine was diagnosed.

In college, I played soccer at The University of Alabama. We had a fitness test called the beep test.  It started off slow and easy and then got progressively harder and it only stopped when you couldn't run any longer. When I would run this I would always tell myself, "One sprint at a time. Just take it one at a time."  After meditating on 'one at a time', you get to the point where you can't go any longer and find yourself on level 18.2 (my personal best). I can't help but compare this to our life now. Every morning I tell myself, "One day at a time."  You can get swept up in looking too far ahead into the future and it becomes too much. You psych yourself out and think, "How can I possibly do this?" But really, you can do it. You will be amazed at what your body and mind can handle. Just take it one day at a time, one sprint at a time. Because when you lift your head and look at your progress you can't help but be amazed at your own strength. This is our new normal and it is so hard but, it is also so wonderful to personally grow in ways I never would have imagined. With this new internal strength, I will share it with Josephine and I will be the best mother, friend, and role model I can possibly be!

always a happy girl

With love and Joy,
Seguras

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!)