Elijah Guzman

What did it feel like finding out your child has Multiple Sulfates Deficiency (MSD)?

We were first told that Eli might have Metachromatic Leukodystrophy, going off the results of an MRI because we just had no idea what was going on when he showed symptoms of developmental delay and regression along with seizure episodes and dysphagia and aspiration at two years old. It took a while to get his bloodwork to the right places and we were finally given his diagnosis of MSD. Either way, each diagnosis prognosis was tragic. I was really in shock and was told by doctors that all I could do was keep my child comfortable and I would just have to watch him regress until he eventually died. No parent should have to hear that. I felt hopeless and it completely broke my heart. I don’t even know how I didn’t completely lose it. I knew that I would have to be strong as a single parent is all that Eli has.

How has MSD affected your children?

Eli began having dysphagia and aspiration causing him to constantly choke on his food and liquids at daycare. there were incidences where ambulances had to be called. He was constantly ill because of this also. we have had to put him on a pureed solids and honey-thick liquid diet. Eli recently got a gtube that has been really beneficial, especially on the days when he is too tired or is just too weak to eat. Eli has epilepsy and his seizures have been a roller coaster ride of having to increase, decrease, and try new medications to control them. Eli has not been able to stay in school full-time. As much as I’d like him to interact with other children, it is over-stimulating for him and the lighting in the school triggers his seizures. sometimes he is just too tired to be at school. He also needs one-on-one supervision at all times because he is at risk of falling. Eli is currently homebound and his teachers and therapists come to our home where he is comfortable. when Eli was two years old he could say maybe 10 words such as mama. He quickly regressed and has been nonverbal most of his life.

Eli was also walking on his own. within 6 months of his diagnosis, Eli was unable to bear any weight on his legs. He is now mobilized through a wheelchair or stroller or sometimes we just carry him around. He is very small for his age. Because he doesn’t walk or mobilize like a regular kid his muscles become very tight and we are having to do stretching daily just to get his legs straightened out or his arms stretched as well. Eli is severely visually impaired. we don’t know how much he sees but he is able to see things when very close to him. For the most part, though Eli is using his hearing and touch senses before his sight. Eli sees 10 different doctors of different specialties ranging from neuro, genetics, and ortho. he also gets speech and physical therapy twice a week. we are a busy family.

How has MSD affected your entire family?

We are always under a lot of stress, and it is always something new with Eli’s health. It has been hard keeping a full-time position at a place of work. Our extended family has been an amazing support to us. I don’t think Eli and I would be okay without them. Were all in this together. MSD has helped us cherish the good days over the bad and realize all the small things we take for granted.

What is the hardest part about being an MSD family?

I would have to say the hardest thing at times is seeing other children grow, learn and play while Eli is only able to do so much without becoming overwhelmed with fatigue or seizures. And as a mom I want him to have a beautiful life, but we are sort of limited to what we can do as a family. For example Eli is so sensitive to the sun, because it triggers seizures. He also cannot get into the water without being carried or turning purple because it’s too cold. I still try to get him the experiences of life but they are always limited. I want Eli to have the best life he can while he can. He deserves it.

What are the biggest misconceptions people have about being an MSD parent?

I know that people mean well when they say “you’re so strong I don’t know how you do it.” I just hope people understand that we don’t really have a choice.

What is one thing you would ask from the world?

I would ask the world to try to understand how beautiful and strong our children are living with this horrible disease, that only gets worse with time.

Why are you asking for donations to the foundation?

Seeing your child slowly lose all abilities, physically and mentally, is something no parent should have to go through. As parents you want to save your child from any harm and in this situation we are unable to do anything but sit and watch. That needs to change. These are innocent children who deserve a chance at a beautiful life.

Latest News?

Eli is stable at this time. His seizures are under control. He has regressed a bit physically and cannot be left alone sitting up right on his own where he was more stable before. He has gained 3 lbs since he got his gtube. We are keeping up with doctor appointments and therapy and just trying to keep a smile on our faces as much as we can.