I remember looking at Austin in his bed after birth, an overwhelming feeling came over me, and I just thought to myself, my life is so complete now.
My son, Austin, was born and had immediate signs of distress. He had abnormal eye movements in which his eyes would scan back and forth, his chin would quiver, and he had abnormal posturing. He was admitted to the NICU with numerous tests, all of which came back “normal”. His episodes continued every 2-3 weeks, therefore the hospital visits, and tests continued as well. Still, all tests results were normal. At 5 months of age, we were referred to a neuro-opthamologist at Vanderbilt Eye Institute in Nashville because of his irregular eye movements. The doctor took one look at him and the videos we had taken of Austin’s episodes and said that he had seen this before 8 years ago in Michigan. He said he would look through his notes and get back to me. We received the call in a couple days that Austin has Alternating Hemiplegia of Childhood (AHC). We were devastated and relieved at the same time. Devastated because of its rarity (only affecting 250 children in US), and relieved that we now know what is causing his bouts of paralysis. Our research led us to the Alternating Hemiplegia of Childhood Foundation (AHCF). AHC is a dreadful disease. Your child is fine one minute and the next minute, he has collapsed on the floor. To see your child alive one second, and almost vegetative the next is sickening. The uncertainty of your child’s health, at any given minute, leaves you on high alert all the time.
Austin is such a normal kid when he is feeling good. He loves to be with his family, joke around, laugh, play, attend school, and dance to music. On his “down” days, when he is paralyzed, he is a completely different person. When he is in a full body paralysis, he doesn’t speak, has a difficult time swallowing (so eating or drinking is tricky), yet he is aware of everything going on around him. It’s heartbreaking to watch the tears stream down his face when he sees his brother and sister running around playing tag. I know he wishes he could be in the game with them. Watching Austin suffering in a full body paralysis is just miserable for me. It is so hard to watch your child suffer and know that there is nothing you can do to help, no doctor you can take him to change the situation. It’s something I hope changes in the future….I hold on to hope.
Since Austin, was born our life has changed in so many ways. My days are now spent driving back and forth to various therapy appointments. He is certainly delayed in speech and motor. Austin began using sign language, and progressed to a few words. He is putting words together, and trying to speak in sentences. Each day is a struggle for him, yet he continues pushing through with a smile on his face.
Austin didn’t walk until he was 3.5 years old, so that made everything a challenge. We have gone to story time at the library and gotten looks because he couldn’t stand on his own. These sorts of things hurt my feelings, and while it makes me want to crawl in a hole and never come out, I just can’t do that. He once asked “why”, then dropped his head back as if he was going into an episode. It broke my heart because I had zero answers for him. I wish I knew “why”, or what caused him to be paralyzed. Austin is still learning, and impressing us with his speech, strength, and personality every day.
As a person that was always planning, I now no longer plan as I never know when his episodes will occur. My almost 8 year old twins, are exceptionally wonderful with him, but they too have had plans changed at the last minute due to Austin’s condition. Its hurts as a mother because you want to do everything for your kids, yet you can only do so much. I pray that one day they will appreciate and know that God has given us a gift in Austin, and learn from our experiences.
Living with a rare disease is no cup of tea. Due to the rarity of AHC, diagnosis can take from months, or in some cases years, for many families. Most neurologists have never heard of Alternating Hemiplegia of Childhood. In fact, we have taught many neurologists what AHC is. The fear of not knowing what tomorrow will bring for your child, the fear of what their future holds; will it get worse? Knowing that your child can run today, and in all reality, will not run tomorrow is hard to grasp at times. There is a sense of loneliness that comes with a rare disease. It’s one that no one around you knows what you go through on a daily basis. It’s isolating. The challenges, the struggles, the despair, are never easy. Even with the reality childhood illness in this country, you never really believe it will be your child, and then when it is, and its something so rare, and NO treatment, and no one wanting to help, because it “only effects 800 people in the world”, you feel completely helpless. It’s like cliff diving- you’re in free fall.
What do I want people to know? I want them to know that rare diseases are worthy of attention, funding, and support. There are 250,000,000 people worldwide that are estimated to suffer from rare diseases. Yes, AHC has 800 kids so far, but these kids suffer unimaginably every week of their lives, and fight so hard to come back. They are the bravest kids I know.
The AHC community is small, yet we remain very connected through chat groups, social media, and family meetings. Reading some posts are scary because of the desperate nature of what our children endure, but we are all in this together and the support is amazing. To learn more about or donate to the AHCF, please visit www.ahckids.org.
There is no treatment for AHC yet so you rely on an international community of parents who have tried different drugs/ therapies over the years. What works for one, may not work for your child. Lack of awareness, lack of funding due to it being a rare disease all play a part in the lack of treatments developed. We are learning more about AHC all the time, but there is still so much to learn. What are the best therapies? Occupational, Physical, Speech, Social/ Emotional, Aquatic, Equine are all therapies that our kids try on a regular basis. How often should they go? What do we do? No one really knows- so we keep trying.
An entire family has AHC. Vacations, plans, school, after school activities all change in an instant. Your life, your schedule becomes about managing this disease. You try and give your children a normal, happy life and give them every advantage, but this disease can change that in a matter of seconds. You just never know when an episode will hit, how severe it will be and how long it will last.
I could write a book telling you about the devastating effects of AHC, the loneliness and isolation of having a child with a rare disease, the worry and stress our entire family feels, but like anything, no one really understands until they live it.