lifewithwhs

[lifewithwhs]

[lifewithwhs]

SaraHaddix.com

[lifewithwhs]

[lifewithwhs]

It all depends on what type of chromosome you were missing and how much of it that has to do with how long your child lives  home if you’re missing only a little bit of it, there’s help if you’re missing a lot and unable to speak or have a lot of medical issues. That’s what makes it to where the life is short.  but for some of us we’ll make it through and live longer than the doctor say we were we do.  for myself I am missing a small part of the chromosome.  which is why I look like everybody else, but do not be fooled. I still have my limits just like everyone else with this disability.

[lifewithwhs]

[lifewithwhs]

[lifewithwhs]

My story is about a 26 year old American girl born without a Y chromosome and parents stacked with genetic history leading to who I am.

To look at me in a store, park or concert you would never know I'm living with a disorder that keeps most with serious deformities and in a wheelchair. I have a rare genetic disorder called Wolf-Hirschhorn syndrome (WHS) that in most cases is not inherited but in some cases from a parent who does not have WHS.

Wolf-Hirschhorn syndrome (WHS) is a genetic disorder that affects many parts of the body. The major features include a characteristic facial appearance, delayed growth and development, intellectual disability, low muscle tone ( hypotonia ), and seizures.

My mom and dad noticed very little at first. Many months later when I couldn’t move my neck much that my parents realized I wasn’t acting like other children. I was very small but I also seemed lifeless and very little movement.

Once I was older and able to crawl, I still had problems lifting my head. I didn’t seem to be growing very rapidly like others. It seems as if my head was too heavy for my neck. I wouldn’t crawl like a regular child, I would scoot around on my back and push off with my legs. Dad couldn’t understand why I wasn’t lifting my head for a bottle and unable to crawl by one as most others would. It would be closer to age 1 1/2 before I would have the muscle strength to hold up my head and begin to try and walk. Dad pushed me and held me for weeks to get me to walk and finally I did by holding onto things around me. Although delayed, mom and dad were happy to see development progress. Speaking didn’t happen until later and by this time dad was blaming the doctor who delivered me for everything I was going through.

For my first four years dad stayed at home and worked remotely. Dad helped me by pushing videos, Sesame Street and other stimulation to get me to respond and learn. Winnie the Pooh and Little Mermaid were played so often we had to buy the VHS video twice. Dad decided to record many sessions of us hanging out together and they are frozen in time on old VHS tapes that may or may not still have the memories on them. We just hope to get them converted before they can’t. We knew I was never going to be able to go to a day care knowing all my limitations, so we tried to fill the gap of social with TV and computer games for children.

While I was very young, neck and ankle muscle tone challenges were just the beginning. I would later reveal that I was having hundreds of petite mal seizures per day that would often go unrecognized since there was nothing to describe it in a young child. Once mom and dad realized what it was, they saw that I was having hundreds of seizures daily. 911 calls became a regular way of life for years with days in the hospital, vials of blood tests, EEG’s, PET, MRI’s and CT scans . Trips to the emergency room were often for a year or so. Many trips ended in the hands of student practitioners, inexperienced doctors or rescue people who had no idea what’s going on but willing to guess at how to properly treat it. Usually a large dose of Diazapam aka Valium, Diastat was administered to calm my seizures only to end in hours of hyperactivity and anxiousness. The side effects of the medications given were not fun. The sad thing is that they can’t test me while under Diazapam, so we would have to wait hours for it to wear off before testing could proceed. Most hospital visits lasted 4-8 hours and often overnight stays in the beginning.

For years, my condition was never really diagnosed as Neurologist were overwhelmed with increased numbers of children with autistic spectrum symptoms. Many had what was called seizure disorder when they weren’t sure what a child had. ADD, Autism and Processing Disorder were the most common diagnosis during the 1990’s. I was an experiment for the neurological community from birth. I was often given a combination of two high doses of drugs such as:

Carbamazepine (Carbatrol, Tegretol, others)

Phenytoin (Dilantin, Phenytek)

Valproic acid (Depakene, Depakote)

Oxcarbazepine (Oxtellar, Trileptal)

Lamotrigine (Lamictal)

Gabapentin (Gralise, Neurontin)

Topiramate (Topamax)

Phenobarbital

Zonisamide (Zonegran)

Mild side effects of anti-seizure medications can include:

Fatigue

Dizziness

Weight gain

More-troubling side effects that need to be brought to your doctor's attention immediately include:

Mood disruption

Skin rashes

Loss of coordination

Speech problems

Doctors tried so many things that we began to worry if they were damaging what was working with these brain altering drugs. Doctors tried many things and all they did was leave me in a zombie state without an appetite or desire to do much. I slept most of my 1-5 years of childhood unfortunately. I would never really play with toddlers or young children my own age except in the doctor office while waiting to be seen. There were many times when my father challenged what the doctors were telling us because it was clear that they didn’t really know.

[lifewithwhs]

My life with this rare genetic disorder can often be tough, considering the fact that I am always in pain, but I keep going and keep trying to make a difference

[lifewithwhs]

Life behind a seizure

 when you’re in a seizure you don’t feel or remember it’s kind of like being in a temporary coma but but without being able to hear or even feel when you come out of it, you are very confused because you don’t remember what happened  so if you’re worried that your kid is suffering, I don’t even know if they are

[lifewithwhs]

If your kid has an injury, depending on how their bones are depends on how it heals. Sometimes this disorder can make it that the bones don’t heal right so there might be a slight chance that they are in pain

[lifewithwhs]

 one I was about the age of six months old I was told that I would never be able to walk or stand. I had seizures for most of my childhood over and over mostly spend my time in the hospital.  I  learned my ABC’s on my computer because I couldn’t really go to school how I learned how to walk was like everybody else but a little bit slower I started scooting on my back to get around.

[lifewithwhs]

This was this picture was taken around the time of my surgery, put into metal rods and bars in my neck and skull to hold it up

[lifewithwhs]

It all depends on what type of chromosome you were missing and how much of it that has to do with how long your child lives home if you’re missing only a little bit of it, there’s help if you’re missing a lot and unable to speak or have a lot of medical issues. That’s what makes it to where the life is short. but for some of us we’ll make it through and live longer than the doctor say we were we do. for myself I am missing a small part of the chromosome. which is why I look like everybody else, but do not be fooled. I still have my limits just like everyone else with this disability.