The hardest things.

These past couple weeks have been filled with emotion. We have been asked some very hard questions regarding Zac's care. They said we can be aggressive with his care, or do as little as we would feel like. Now that we have met with most of the specialist doctors, we decide if we want there involvement. My Pediatrician said that they can keep Zac alive for a long time living on machines. But Brett and I know that no matter what happens or how good of care he receives it won't change the fact that he has a terminal illness. There is no cure, there is no treatment.  We have decided that quality of life is more important than quantity. BUT I still am upset that we as Zac's parents have to make that decision. No parent should have to decide whether to let there kid live or die. It breaks my heart!

We also learned today that Zac is being classified as GM1 Type 1, and with the aggressiveness of the disease it makes more since. They have seen more of the physical features of Type 1 shown in his bones. And on a daily basis we are seeing regression.   He has been sleeping more throughout the day. His awake time is often 6 hours. But sometimes we try to push it a bit longer. He is getting more tired and weak everyday. He is no longer able to hold his body weight up with his arms and face plants as he tries to crawl. Yesterday he tried to get in the position to crawl and he couldn't get his legs to cooperate. Poor little dude. He gets frustrated and upset, and I get a broken heart. But with that said the pediatrician thinks that he will be lucky to live to his 3rd birthday. This makes me very sad, I am selfish and want to keep him. I know he will go to a better place, I just feel bad for us.

We are expecting to get a package in the mail tomorrow. It's "The Vest!" This will break up the mucus on his lungs and help it to drain. This will prevent early onset of pneumonia. He is also suppose to start breathing treatments of Albuterol and Flovent. But our insurance has denied the claim. This insurance stuff is a mess. We are trying to figure out a better more comfortable way for Zac to get around. We are thinking of a car bed, and a better kind of stroller. He is 24lbs of dead weight. I need to get something to pack him in. While in the car he struggles to keep his head up, this stinks because we are always in the car going to doctor appointments. We are concerned about his airway.

We picked up a pulse oximeter today that Zac is suppose to wear off and on while he sleeps and while awake, that didn't go over very well he cried for hours. He didn't think it was very nice of us to make him keep it on. We finally took it off so he could get some sleep. If it starts to get low that is a sign of him getting sick, or not having enough oxygen. Therefore, we monitor it daily and if it is low on a particular day we call or go to the hospital. If Zac gets sick at all it will mean pneumonia..hospitalization..and maybe death. So we have got to stay healthy as a family. PLEASE don't come over if you are sick.

Zac is maintaining his weight but is not eating consistently, we feel we are getting to the point where a G-tube should be placed in his stomach. We are meeting with the dysphasia clinic in 3 weeks to figure that out. The Pediatrician said that Zac would handle the sedation better now, than he will later. This will also take away the worry I have of him aspirating. But even with having a G-tube, he will still be able to eat the normal way. This will just make it so he doesn't have to work so hard for his calories.

We love Zac so much, we can't imagine our lives without him. This is a very hard time for our family and we appreciate everything that is being done to help lift our burden. All of the financial donations have been amazing, it is nice to know that we don't have that additional stress of medical bills, and instead we can enjoy the short life of handsome little man. We have been blessed with people helping out with meals, that is a blessing all the time (I hate to cook). After pulling an all day hospital visit it is so nice to have a meal already prepared for us. Thank you! We are very grateful for that as well. There has been family, friends and neighbors who help with Max and Ace. They are having a great time instead of being dragged to Zac's appointments. That also helps the appointment go smoother too, nothing like sitting there with 2 extra kids who don't want to be there, for several hours. Last but not least we are very grateful for all of the prayers, we draw strength from them. This is hard to explain, but I know that every pray is helping my family. Keep them coming, please and thank you!!

Bonded

Zac thinks that he and I are one person. It is interesting how sensitive to emotion he is. If I laugh, he laughs, even if he is not by me. For this reason we try very hard to keep positive emotions. A couple days ago I say to Brett "watch this," and I started laughing and Zac followed suit. Then Brett said "okay, I can do that too," then he laughed...nothing happened. Zac and I have a very special unique bond. He is mine and I am his.

Zac has his favorite people and favorite activities. He LOVES to wrestle with his daddy and brothers. He enjoys bike rides and stroller rides. He basically likes to do whatever his brothers are doing, he likes to be in the middle of things. Zac has a daily routine of making a mess, (there is only a small amount time where he will get down and "plays") He starts in the living room and pulls out the DVDs, then moves to the diaper cupboard, goes over to the games, moves to the kitchen and takes out the Tupperware, then goes to the bottom drawer and takes out the baggies, moves to the stove and takes out the pans, then he is done. This happens everyday and takes him about 45 minutes. During this time I have to stay on the couch and watch him. If I attempt to get up and do anything he cries. Then it is nap time, he goes to bed and I clean up the mess. Good times!

We had a good week, we went to the Weber State Fireworks, spent Monday morning at Willard Bay (Zac loves to swim), took a bike ride, and had a couple doctor appointments. We are trying to make the most of the little time we are given with him. Especially since he is sleeping so much and is only awake around 6 hours a day.

We learned that Zac has lost his peripheral vision, and is having inner ear problems. This makes it hard for Zac to lay on his back, it causes him to feel dizzy and feel like he is falling into nothing. This makes me sad because I feel helpless to do anything. We are trying out new ways change diapers and dress the baby that doesn't require him to lay down on his back. Ideas??

Because Zac is sleeping so often and not eating much, I am getting concerned that he isn't getting the nutrients that he needs. I am researching the most nutrient foods and planning a special diet for him. I am also going to try to meet with a Dietitian in the near future (if I can get in). We also went to see an Occupational Therapist today for feeding. Her biggest concern is that he will get too tired while he is eating and aspirate. After he ate 3 Gerber meat sticks he was already tired and started to struggle swallowing. She wants us to feed him more pureed foods, and run everything through a food processor. We are trying to hold off as long as possible on the Gtube.

I spoke with the GI specialist today and she said that the results of the swallow study were in and that it didn't appear that he was aspirating while he was eating. But it was not a good study. (He screamed the whole time.) She has put him on Myra lax because his GI system is weak and is moving very slowly, she also thinks this is the reason he doesn't want to eat much.

I also spoke with the Geneticist this evening, he said that Zac's organs are the correct size, but his bones show signs of GM1 type 1, but it isn't real severe. He is still trying to get approval from the insurance company to do a full on genetics test, and the way I understand it, it will explain more about the time frame that it onset. He said it will answer more of my questions. I asked about longevity, he said that this would help answer that, I have no idea how that could be. I also asked about Max and Ace's blood work results, the computer says that is it still pending. I am going to call him back next week.

There are 2 clinical trials that we are going to sign up for, one is for the NIH (National Institutes of Health) in Washington DC, they will observe the disease (since it is so rare, they don't know much about it). They will have us come out every 6 months for 4 or 5 days. And then there is another one in Minnesota, and they are trying to control seizures. They would put him on a Ketogenic Diet and prescribe him a drug. But as of today Zac is not having seizures, so the Geneticist is going to call and see if they still want him in the trial.

Sorry if I have repeated myself. I am very grateful for all of the love and support from all of you. I feel strengthened by your prayers for my family. I know that we couldn't do this without you! Please keep praying, this is going to be a long hard road for us. The emotional strain is wearing on us. But with our faith and hope in the Lord we can get through this.

 Please feel free to leave a comment!

The Pursuit of Happiness

As Brett and I are in the kitchen, (he is cooking and I am cleaning, which is pretty much the roles we have taken) we are talking and laughing about things, and Max asked, "why are you guys always so happy?" With all of this doom and gloom that is staring us in the face every minute, we have decided to make the most of life and cherish every moment. Are things perfect, no way! Knowing that we have little time with Zac it didn't automatically turn the kids into perfect angels. But we know that happiness is a choice. Even though we are watching our son literally die before our eyes, we are going to enjoy this journey. We hate the prognosis, but we love him so much. We believe that there is a purpose and reason why we are going through this and we hope to come out the other side stronger. But for now we still really need your prayers!

He thinks he is so big just like his brothers.

Update on Zac: He is getting more tired and irritable. He can remember things he used to do and gets frustrated because he can't do them anymore. He only wants to be held. And when I hold him he rests his head on my shoulder. Zac has always been weird about laying on changing tables and exam tables. So we adjusted and used the floor. But in the last couple days he has developed a fear of laying on the floor too. He is not happy getting a diaper change or getting dressed. With the other boys I would change diapers while they stood up, but Zac isn't strong enough to hold up his body weight for long. 

Because he is getting more tired and weak we have decided to go back to two naps a day instead of one. But that doesn't leave much time in the day to be awake and play, especially since it takes a very long time for him to eat, and they want him to eat 6 times a day. Today his awake time was 6 hours. That just doesn't seem like enough time spent with him. But if he is tired he isn't fun to be around either. We will just make the most of the happy boy we love.

Happy to be outside.

Since we received the diagnosis we have been going from doctor to doctor, specialist to specialist, hospital to hospital. Every time we get in the car now Zac starts to cry thinking we are going to the doctor.

We have been seeing the Pediatric Neurologist, and she was the one who told us the diagnosis. We will not be seeing her again until Zac starts having seizures. I have been praying everyday that he skips that part of it. They scare me to death.

We have an amazing Pediatrician who has mirrored the urgency I have felt since the day of the tremors. She has an assistant lady who has been making all the specialist appointments, filling out paperwork and appealing things through our insurance company. The day we met with her was the day I felt like I could breath again. It has taken much of the stress and leg work off of me.

We have been to the Geneticist at Primary's and he ordered a full skeletal x-ray, ultrasounds of his organs and then more labs and a urine sample form Zac. We went straight across the hall and did all of them while we were there. It was a long day. He also ordered blood work for Max and Ace so we know whether or not they have the disease or are carriers of it. We have not heard back.

So tired

 We went to the Pediatric Gastrointestinal specialist in Riverton who will be monitoring Zac's eating and digestion. She will be the one to put in his G-tube (feeding tube directly to his tummy) when the time comes. She also ordered a swallow study to be done at Primary Children's with a Speech Therapist. Which we did yesterday, it was at nap time and he doesn't like to be set down. So to get him to cooperate was impossible. The therapist said that she wants all his food to be pureed. Also that he is not aspirating while he eats. Very Good.

We met with a Cardiologist, she did an EKG and it came back normal. But she said the things that they worry about with kids like Zac don't show up on an EKG and that we need to go back and have him sedated and get an ultrasound of his heart. I still need to make that appointment. Ugh! I don't know why we didn't do it all at the same time.

Fun on Grandpa's tractor.

We are scheduled to go to an Opthamologist and Pulmonologist in the near future. He is still having physical therapy weekly, I just got a call today saying that the appeal went through my insurance company and Zac will be starting weekly speech therapy and occupational therapy through Primary Children's Rehab of Ogden. He also is involved in Early Intervention and all 3 therapists come out twice a month each. 

Even though Brett's medical issues sucked it has been very nice to have him off of work for the last month. I don't know how I would have done it without him. And also for all those who have watched Max and Ace so they didn't have to sit in a boring hospital day after day, I am grateful for you too. 

He is starting to squint his eyes all the time.

With all of these appointments we have been getting medical bills pouring in through the mail and we are very grateful for those friends and family who have donated to help ease our burden. Thank you, and God Bless you!!! If you have any desire to donate there is a link on the right side of our blog. Also, if you want to leave comments or have any fundraiser ideas, please let me know. 

Humility, Gratitude, and Love

Our friend set up an donation account for Zac. I am overcome with emotion. People are so generous. If you know me at all, I have a hard time accepting help from anyone but family. My husband and I are independent, proud, and hard workers. We rarely ask for help from anyone. But since we have been going through all of these medical issues, mostly with Zac, but Sara (older sister) has medical issues that are still unknown, and with Brett getting a stress fracture then having his gallbladder out all this month I have had to become humbled. We have wonderful friends, family, neighbors and co-workers, who have really impacted our journey for the best. We have people who are willing to play/babysit with my other boys; Max age 6 and Ace age 3 while we are taking Zac to therapy, or appointments. A neighbor brought us dinner without asking and it was perfect timing, it was the day the neurologist called with the diagnosis. My friend who lives across the country sent us a gift card for pizza. Brett's friend and co-worker is doing a Zumba fundraiser to help with medical costs. There has been other's who show support by listening and caring. We are very grateful for each and everyone of you. We feel your support and love.
PLEASE continue to pray for our family!!!

Support for Little Zac | Medical Expenses - YouCaring.com

Meet Zac

Zac Milo Horspool, born to Brett and Melissa on October 13, 2012. He was perfect, the 3rd little guy in our family. He was 9 lbs 13 oz. defiantly a healthy size. We were so glad to welcome him into our family and into our hearts.

As we settled into life with 3 crazy boys, we started having problems with him, he had many food allergies, and it seemed like he had colic day and night for the first 14 months of his life. Even though there were many challenges, the biggest one was to keep him happy, we still loved having him.

Even with the feeding and colic issues he was still reaching his milestones up until about a year old. Then I started to get concerned, not worried, just concerned. I spoke with his pediatrician at the time and he thought that Zac didn't need to walk because he had 7 others in the house to carry him around. (3 foster sisters.)



He even started to say a couple of words, Mama, Dada, Sara, hi, and yeah. He was babbling, crawling, and very interactive. But there was a couple things I noticed, he struggled feeding himself, his arm would shake when he went to grab things. His leg would quiver in the bath tub, his movements became very slow and deliberate.

At his 15 month WCC (well child check) he didn't meet any of his milestones, then again at the 18 month WCC he still wasn't improving, in actuality he had started to regress.

This was a red flag to me, but since I did not attend the WCC at 18 months I wasn't able to express myself and demand to meet with a neurologist. The pediatrician told Brett if he still hasn't started to walk in a couple more months he would refer us to one. He also said that at the 15 month WCC.

A couple days later Zac was very shaky and weak, and I freaked out. It was the worst I had seen from him. I took a video of the shaky tremors and sent it to my sister-in-law Rebecca. She posted it on a Facebook page she is on, the members of that page suggested I take Zac to Dr. Morita the Neurologist, she doesn't require a referral. I got on the phone and we were in her office 2 days later.

Zac walking at 18 months old

Dr. Morita scheduled a MRI and some blood work at Primary Children's Hospital in Salt Lake City, luckily it is only an hour away from us. By the time he came out of the sedation and we made the drive home she had already received the results. Demyelination. Because of the regression we were seeing we were sure his brain was loosing myelin. Now myelin is what covers the nerves in the brain. (Like the plastic covers on electrical wires.) We all need myelin to help the messages our brain sends get received by the body.

Now we had one piece of the puzzle, why was Zac loosing myelin? More blood work, and urine tests followed. There was one blood test that we had to take him up to Primary's and have it drawn before noon and they would freeze it and overnight it to Thomas Jefferson University Lab. That was where they discovered that Zac had this very rare, genetic disease. GM1 Gangliosidosis.

Getting this news was heartbreaking, there is no cure, and it is always fatal. No mother plans on or expects to watch there child die. I cried and morned the loss of the life I wanted him to have, the life I expected him to have. I still get emotional talking about it or thinking about it. It feels like my heart is broken beyond repair.

The tremors.

But crying about it is unproductive and will not change anything. It was time to figure out everything about this ugly monster that I can. I learned doing research on the Internet that there has been less than 50 cases of this GM1 Gangliosidosis type 2, and it was first reported in 1964. But trying to find a better time line for deterioration is almost impossible. Up until today I have watched a couple YouTube videos of children with this, but non that have the same onset time as Zac. (GM1 type 1 is onset around birth to 1 years old, GM1 type 2 is around 18 months to three years old. GM1 type 3 is anything after age 3.)  I have seen 2 blogs of a one of a 3 year old boy and another of a 4 year old boy. I am trying to contact those families now. I have also created a Facebook page to see if someone is looking for others with it.

GM1 Gangliosidosis type 2 is fatal around mid childhood. I asked the neurologist what that meant and she said 5 years old. She said his body will continue to regress and shut down. We have to keep an eye on all his major and minor organs. We will continue to participate in physical therapy, occupational therapy, and speech therapy to maintain the strength he currently has as long as possible.

Zac is almost 21 months old, he does not walk, talk, or chew. He is moving around less, loosing his eyesight, becoming more irritable, and tired/weak. BUT he loves to wrestle his daddy and brothers, he has smiles and love for his family and friends, and he is a mommy's boy. He loves to cuddle, hug and kiss. He even rubs my back. Soooo sweet. I can't imagine my life without him.

We are trying to get a better picture of the future, help him as much as possible, make his life comfortable. But at the same time trying to find a balance for our other amazing children. We appreciate all of our family and friends who are supporting us through this incredibly difficult time. We are grateful for all the prayers in our behave. Thank you so much!!!