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!!!