What I want you to know about living with a rare disease

Today is International Rare Disease Day, an advocacy day to bring widespread recognition of rare diseases as a global health challenge.  I have a few folks who are going to share about living with a rare disease.

 

Mollie’s son Austin is living with Alternating Hemiplegia of Childhood

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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.

 

Cherise has a daughter with Spinal Muscular Atrophy

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Our 3rd child, Lucy has Spinal Muscular Atrophy Type 1 (a neuromuscular, degenerative, terminal disease). It is the number one genetic killer of infants but it is still a 'rare disease'. We had never heard about this disease before Lucy was diagnosed and we have no history of this disease in our family history. She was diagnosed at about 4 1/2 months old and she is now 5 years old.

Our lives revolve around Lucy and her high-maintenance-care regime. Knowing what we know about Lucy's future with this disease is very difficult but we continue to learn that we can still be happy now and she can have a wonderful life despite the many challenges she faces. We have two other children and the impact on them has been life-altering. Even they have stepped in and helped with Lucy's care (they are now 8 and 10 and Lucy is 5)

Living with a disease is not just a one-time incident, it is an accumulation of incidents. Going to the hospital stinks and it really throws life into a tornado of chaos but mostly our life is the accumulation of incidents. Just to name a few...the night nurse not showing up, Lucy is prone to sudden choking so we are always alert and have an eye on Lucy. Also, Lucy's schedule is rigid and crucial for her health. Taking care of Lucy day-to-day is the hardest thing we do but she is so happy and grateful, it is also the easiest thing we do.

The discovery process is not only for the family but it is also for the medical staff so we are learning and discovering together. For example, we learned later in Lucy's life that a constant 5 aggressive breathing treatments a day maintained her in a way that keeps her more stable and has decreased the amount of hospital stays that she has had. WIth a small community there is less of an opportunity to learn from others (although we still do learn from those around us), children with the same type of disease are still different and there isn't a lot of evidence of any specific kind of care. The life expectancy of children with SMA is 18 months-2 years so the learning curve is very, very steep and the opportunities to learn from others decreases the longer your child lives.

Judy’s husband has Guillain-Barre Syndrome

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Learning that you or (as in this case) your spouse, has a rare disease is scary, to say the least. My husband was diagnosed with Guillain-Barre Syndrome in 2010. I watched him go from walking on Monday, to a wheelchair on Thursday, (without a clue as to what was happening), waiting for a call from a doctor that never comes, rushing to ER, being admitted to hospital, going through a battery of tests to rule out certain diseases, and waiting to find out the diagnosis.

GBS is extremely rare and is potentially fatal if not treated in a timely manner. We were so very thankful for doctors that diagnosed in a timely manner and that they knew how to treat it before it progressed any further. The risk of another episode is always with us, so that alone is quite a burden. My husband has significant weakness to this day, so that impacts his life in a pretty big way.

Outsiders see someone getting better and they think that person has recovered. My husband appears to be completely healthy on the "outside". You wouldn't know that he was suffering as much as he is suffering. Society looks upon ones outward appearance, not realizing the day-to-day struggle that comes with the weakness from the syndrome.

In Eddie's case, he was unable to take Embrel, an injection that he had been taking for years to help with his arthritis. This medication was working quite well to keep his arthritis under control. Because of the GBS, he is no longer able to take that medication as it can cause issues with this syndrome. To prevent a recurrence of GBS, he has to suffer more in another way.

When diagnosed with something that is so rare, it's hard to explain to others so that they truly understand. This is especially true in diseases/disorders/syndromes where it isn't so obvious by appearance.

 

Sunny has a mother with Sjögren's syndrome

My mother was diagnosed with Sjögren's syndrome, then a not well-known autoimmune disease, when I was a teenager. At that times it seemed so exotic and unusual, but now it far more prevalent and has a higher profile, especially after Venus Williams announced she had it.

Soon after my mother was diagnosed with Sjögren's, she was also diagnosed with rheumatoid arthritis, another autoimmune disease that often goes hand-in-hand with Sjögren's.

Sjögren's effected her every single hour of every single day, with having to use artificial tears, always having to sip water to keep her mouth moist along with a host of other issues. Back then, there wasn’t much to be done except treat the discomfort, since there is no cure or way to mask the symptoms. It was very frustrating for her at the time, trying to find answers and to find doctors who understood her illness. This was in the days before there was much information and before organizations like the Sjögren’s Syndrome Foundation started getting the word out.

I think one of the most important things with living with a rare disease is information and support. Information is so much harder to come as is finding a community that understands. My mother passed away before the popularity of message boards and countless health websites, but she would have really loved having that access at her fingertips.

 

Kristina’s sister and father have Myotonic Muscular Dystrophy

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My father was diagnosed with Myotonic Muscular Dystrophy around the time I was two years old.  The prognosis was, essentially, he wouldn’t live to see 50.  The reality was he would but would suffer in such a way that he likely wished that 50 was it.  This form of muscular dystrophy causes the insulation around the nerves in your muscles to deteriorate.  In turn, the nerves shrink away from one another and they synapses that are needed to make the muscle work take more energy at first but, eventually, they just can’t happen.  The muscles don’t respond and atrophy.  The disease effects the upper body: arms, hands, neck, face, abdomen.  In later stages, like with my dad, it prevents involuntary swallowing, coughing, walking, standing and diaphragm and heart muscles.

As a kid I knew that my dad had a muscle disease.  At first it was all the eye surgeries to correct cataracts. (I think he had about 15.)  Then is was the weakness in his hands and arms.  The man who could once carry my sister and I while we dangled from his outstretched arms wasn’t about to carry much of anything. He was tired all the time and would need to sleep as soon as he got home from work.  After an injury at work aggravated the disease, dad wasn’t working anymore.  And the lack of activity took its toll.  Within a decade he was unable to walk, eat, bathe or take care of daily life needs.      I went from being his kid to his caregiver.

Having a disease that people really know nothing about is like stumbling about in the dark.  My father was not the type of person to be super proactive.  And, honestly, even if he had been I am not sure that it would have made a difference.  When the leading specialist in the nation says there isn’t really anything you can do, it leaves you hopeless.  We would go to doctors appointments and I could see that my dad would be hopeful that this time there would be some breakthrough and he could, at least, halt the progression of the disease.  That never happened.

When two of the most important people in your life suffer from the same disease, the toll is immeasurable.  Both my father and my younger sister have Myotonic Muscular Dystrophy, a form of Muscular Dystrophy, that effects the muscles in your upper body.  For my father, the disease eventually took his life but only after tearing his body apart and leaving him unable to walk, eat, stand or care for himself.  What he went through emotionally was even worse.  Born in an era where your strength was directly proportional to your manliness, having a disease rob you of every last ounce of strength was beyond devastating.  Caring for him was the hardest thing I’ve ever done.

My sister, who was diagnosed when pregnant with her son, is not manifesting the disease in the same ways my dad did.  (We’ve been told this disease effect no two people the same.)  Being her support has been a blessing and a curse.  I am so glad that I can be there for her when she needs to vent about how the disease is tearing her down.  Her frustration over home, work and society at large is a burden she should have to bear alone.  But, the weight of her plight is heavy.  It leave me feeling helpless.  She wishes my dad were here so she could talk to him about what she is going through.  She feeling like he would understand in a way the rest of us can’t.  I just wish he was here.

Many articles have been written about dealing with disease.  But, not too many about loving someone with a rare, incurable, untreatable, life threatening one.  People didn’t know what to do or say around my dad when he was alive.  So, often, they said nothing.  My sister has a distinct limp and her hands look different that a “normal” persons.  I wonder what people think.

I am lucky to have a husband and circle of friends I can fall back on.  As a caregiver for my dad I suffered depression and anxiety over what he was going through.  I needed help.  I still do.  As the big sister my heart breaks if I think to long about what lies ahead for my sister.  I try to not let it swallow me whole.

I guess I want you to know that just because I don’t have the disease doesn’t mean I don’t suffer.  I do.  I would take it all away if I could.  But, in the mean time…  If you know someone who is a caregiver, offer help.  And don’t say, “if there is anything I can do…”  Be specific.  Be sincere.  Be ready to follow through.

 

Haley’s son is living with Eosinophilic Esophagitis

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My son Jackson is no stranger to doctor visits or hospitals. From the moment he was born, nearly 6 weeks early, he has required visits with various specialists for his medical care. At 3 years old he was diagnosed with severe autism and a sensory processing disorder. He is also totally non-verbal. While all that may sound like a lot to deal with, those issues have been relatively easy to tackle with great doctors and therapists. It was his Eosinophilic Esophagitis, or EE for short, discovered during an endoscopy that totally caught me off guard.

EE is an allergic inflammatory condition of the esophagus. When Jackson's GI doctor did his endoscopy, she found small white formations on his esophagus wall called exudates. She explained to me that if left untreated there was a possibility over time that Jackson's esophagus would harden and he would have great difficultly swallowing. Since the condition is rare there is limited knowledge about it...especially in regard to what allergies cause the condition and how to treat it.

Typical methods for determining the allergy at fault are an elimination diet (where you remove the 6 most commonly problematic foods from the child's diet to see if symptoms improve) and allergy testing (a blood test and prick test done on the surface of the skin).

With Jackson however, things were much more difficult. We did a blood allergy test initially, but it came back to say that he was not allergic to any of the suspected foods. He was not a candidate for the more accurate skin prick test though, because he would have to sit still for the entire test as they poked his back and then not disturb or scratch the testing area for 24 hours.

Of course, those requirements would be asking a lot of any child... but for Jackson, who is set off by even little things like the texture of certain fabrics or rough tags in his t-shirts, it simply was not an option.

The elimination diet was also not an option for him, because his diet was already extremely limited due to his sensory issues. At the time the doctor recommended it, he was eating about 8 foods regularly, and 6 of them would have to be removed to check for the allergies.

Since that would be stripping him of what nutritious foods he was eating (and would take away the routine of eating we had already established) I decided not to move forward with the elimination diet, but that left me in a troubling place.

At that point I had only a few choices left according to the doctor. We could try an all liquid diet...essentially an elemental formula made for big kids. We could put in a feeding tube and give him the formula that way if I wanted. Or, we could try using some experimental meds that Jackson would have to swallow each day.

Initially I had Jackson try the formula simply because at that point I just wanted to find something to help with his EE. But in the back of my mind I really didn't want to take away one of his strongest appropriate social behaviors, which was sitting down to eat with a group of family or friends (for people with Autism, social behaviors and situations are some of the most difficult things to grasp).

He really did not like the taste of the formula, so the option of drinking it by mouth was out. I will admit that I did consider a feeding tube for about a week, again out of desperation, but in the end I simply could not accept that a surgery and taking away all solid food from my son was the answer. In the end, I went with the experimental meds which I mix with a sweetener to make them easier for him to swallow.

Since he began the meds, not only has Jackson had far fewer gagging episodes (which is the entire reason I had the endoscopy done in the first place), but he has also been open to trying some new foods. He is growing like a weed now and seems to be doing well. Of course, we won't know how well until his next endoscopy which is later this year, but until then I'll take what progress I can get from him.

If I could tell people one thing about life with a child who has a rare disease is that as a parent I'm doing the best I can. I have researched and exhausted every option and am doing what I feel is best for my son. I know it can be hard to relate or understand my situation...but rash judgments made by others aren't helping our situation any. If you are curious, I will happily answer questions asked in the spirit of kindness. After all, a little understanding goes a long way.

 

This post was sponsored by AHCF, whose mission is  to find the cause of AHC, develop effective treatments, fund research, and provide support to families and children living with AHC. AHC is the “Rarest of the Rare” with only 1,000 people affected worldwide. For more information about what they do, you can visit their website, and follow AHCF on facebook and twitter.

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