Read the stories of people who parent children with a rare disease.

Julie’s reflections on caring for a child with a rare disease.

What are some of the unique challenges of parenting when one of your children has a rare disease or disorder?
The judgment of other uninformed parents who think there is no reason your kid can't do whatever because they know this other kid who can, and they have xyz…

What was the process of diagnosis like for your family?
Long it took over 6 years. We started with one doctor who referred us on and on through 4 doctors and then because it was a genetic thing, we had to wait for all of the symptoms to appear before they could start treatment.

What additional tasks/challenges take up your time related to caring for a child with a rare disease or disorder?
Therapy. Lots of therapy and research. I find that doctors are willing to try new therapies if you do the research and bring it in. You have to make sure your doctor is up on the latest techniques.

What are your hopes and/or dreams for your child who has the rare disease or disorder?
To live as long as possible and be able to experience life to the fullest. To meet people who see them for who they are, and not the disease/disorder they have. Like Mr. Rogers; he liked the little boy for who he was and not for his fancy chair. life.

How has having a sibling with a rare disease or disorder affected your other children?
They all have different conditions. My son only has cat allergies, so we explain that we make accommodations for your cat allergies, so we need to make accommodations for epilepsy, autism, etc.

How has having a child with a rare disease or disorder shaped your approach to parenting?
I am more patient than before I knew what was going on. I treasure our time more. I know it is less than what others get, so little moments mean more.

What are some practical things that other families can do to help or support you?
If offering to make meals, please be willing to make them with dietary restrictions in mind — things like that. Not “we will watch the kids, but we won't take peanuts off the menu even though your child is allergic”.

Laura's story about how caring for a child with rare diseases affects her family life.

What was the process of diagnosis like for your family?
My family is extra rare in that our child has two rare genetic diseases. In the first instance, we had been searching for over a year for answers to our son's failure to thrive and increased lethargy. When we got the diagnosis, there was relief because there was treatment, there was the potential of improvement. In the second instance, the diagnosis came before many of the symptoms. The nephrologist and geneticist were searching for more information about my son's kidney disorder, we guessed that his hearing loss was related to his kidneys, only to find out that he'd inherited Usher Syndrome, the leading cause of adult deaf-blindness. My son had inherited a degenerative eye condition. In that case, the diagnosis wasn't a relief, it was a shock. That said, the shock wore off and the knowledge gives us power to pave the way for a well-adjusted future for our child.

How do you and your family cope with the diagnosis and your impacted daily lives?
When you become a parent, you learn very quickly it's not about your desires for your child, it's about your child. Often times, like most relationships, it's a matter of a give-and-take. In this sense, parenting a special needs child is essentially the same as parenting any child, but on steroids. My son has anxiety issues and sensory processing issues because of medical complexities and differences in vision and hearing. Sometimes that means I come to his level, help him avoid a crowd or protect him from overstimulating or anxiety-producing spaces. If he'd rather play by himself on a playground than interact with strangers, so be it. Other times it means I help build him up into a person that can better adjust to the world outside himself. I teach him explicitly how to make friends because he never learned the script by himself. I work hard with therapists to help him learn essential tools for survival. When he was littler, that meant explicitly teaching him to respond to a fall, since his reflexes were muted. Then it was teaching him to chew, eat, swallow, speak, walk, tolerate water, say 'hello,' respond to direct questions, etc. These are things I hadn't had to teach my other children explicitly, so parenting is taken to a new level. That said, he also responds. There hasn't yet been a thing that he needs to learn that he has been unable to pick up, eventually. But this also puts a burden on us -- our son has no apparent ceiling on his abilities. But everything comes with great effort (in large part because he was born four months early). In addition, he is going to be moving into a deaf-blind adulthood with a kidney condition, and we are never certain about what's around the corner. We are faced with a balancing act, similar to most parents but (again) on steroids. How much time do we spend pushing our child to become the best possible version of himself through explicit teaching like therapy or school? How much time do we spend seeking out the sunsets and the concerts while his eyes and ears can still process these sensations? So, to sum it up: our family copes with the diagnoses by throwing ourselves all in. We seek out appropriate therapies and schools for our child, seek out knowledge and wisdom on his diseases, and try to give him as much as we can so that he thrives, even as the world dims. All while, of course, allowing him to just be a kid. No biggy.

What are some of the unique challenges of parenting when one of your children has a rare disease or disorder?
When multiple children need help, the special needs child's needs nearly always trump the needs of the other children. It's not fair, it stinks, but it's the way it is. It is always a challenge to know how to loop in the other siblings so that they don't feel like second-class citizens in their own home.

What additional tasks and challenges fill up your time related to caring for a child with a rare disease or disorder?
We spend a lot of time driving our child to therapies, attending parent training sessions, and then we spend way way way too much time documenting, researching, and advocating for appropriate educational settings. At first my life was consumed by doctors’ appointments and understanding my son's diagnoses. Now that those are understood well-enough, the task of explaining my child's unique needs to his teachers—balancing giving complete information with being overly obnoxious—this has become my all-consuming task.

How has having a sibling with a rare disease or disorder affected your other children?
One wants to become a doctor or nurse and has developed empathy. The other is a polyglot who tacked on ASL to her languages of use so that she could communicate more effectively with her brother.

What are some practical things that other families can do to help or support you?
My child needs friends. His only friends right now are his siblings. This is largely his fault. He actively pushes away other children because they are too scary for him. He's never going to make friends on his own, and we can't put him in a lot of the normal activities for kids to increase exposure to peers. His vision and hearing loss and sensory differences make those settings inaccessible without a parent or aid. He relies on adults to help him make sense of his world. Other families could walk beside us, tell us they really like our child and they want to find a way to stay beside us until he learns to befriend them and/or their children. Feeling "sorry for him" isn't an option in our book. He won't thrive in a society that feels sorry for him, he'll only thrive in a society that learns to accept him and bend ever so slightly to make room for him.

Interested in hearing more of Laura’s story? You can visit her blog here.

Sarah's reflections on the challenges of caring for a child with a rare disease.

What are some of the unique challenges of parenting when one of your children has a rare disease or disorder?
The countless hospital trips; you learn quickly how to be creative with different tasks to do on the way to try and keep them entertained! Compensating for the extra attention the child who is affected gets. Having to explain to the people who don't know them, and also family.

What was the process of diagnosis like for your family?
It was a long one. I knew there was something wrong 2 days after she was born. It took 3 years to finally get the diagnosis. There was lots of fighting and arguing with people who thought I didn't know what I was on about.

What additional tasks/challenges take up your time related to caring for a child with a rare disease or disorder?
Dealing with school and having to attend extra meetings to make sure she’s coping well with her extra needs. Dealing with meltdowns and a lot of daily physio.

What are your hopes and/or dreams for your child who has the rare disease or disorder?
That she can live a good and healthy life.

How has having a sibling with a rare disease or disorder affected your other children?
My time is taken up with my daughter, so I gave to come up with ways to spend time together with my other children. We have to go to the hospital etc., so it means time off etc. too.

What are some practical things that other families can do to help or support you?
Be there. Be an ear to talk to and vent at. I think the frustrations can be overwhelming at times. That's where having someone else with a special needs kid becomes really useful.

Kerry's story about parenting a young child with a rare disease.

Harper Grace was brought into this world on February 4, 2016. And that’s where the “normal” part of the story ends. Shortly after Harper was born we quickly noticed that things were "off". On day 2 of her life, we found out that she didn’t pass her hearing test. Day 3 rolled around and not only was her coloring quite dark, but she also wasn't opening her eyes any longer. We brought Harper to the Pediatrician and she sent us immediately to Mott Er (for her jaundice…the Pediatrician wasn’t too concerned about her eyes). While we were there, we asked the Resident to look into Harper’s eyes since she was not opening them-sure enough, she had abrasions in both of her corneas. They gave us erythromycin ointment for her eyes, put her under some lights to “cook out” the jaundice and 12 hours later, we were on our way home, figuring that was just that! All we had to tackle now, was her hearing loss.

How wrong we were.

Weeks passed and Harper continued not opening her eyes, unless in a very dark room. We took her to Kellogg Eye Center weekly to try to figure out what was going on. She was seeing a Pediatric Ophthalmologist and a Cornea Specialist. Neither could figure it out. We tried what felt like everything to help “fix” her eyes. Drops, ointments, contacts…! Finally after a month or two her abrasions/dry spots started to clear up and things started to look up and we thought we had gotten through the “hard” stuff.

Again. Wrong.

At 2 or 3 months Harper still wasn’t cooing. She wasn’t smiling. Things felt off. I asked her (then) Pediatrician if we should enroll her into Early On and she told me no, I’m worrying for nothing, some babies just progress a little slower than others. I knew she was wrong and I made another appointment with another Pediatrician. Harper had no head control, things were off with her eyes still (horrible light sensitivity and would water for no reason), no smiling, no cooing, no noises really at all. Something HAD to be wrong. The next Pediatrician agreed and said lets get her into Early On. So we did. We also switched Pediatricians.

Months passed, Harper still had sensitivity to light (we couldn’t even bring her outside) and a nystagmus began in one of her eyes (then later in both eyes). At around 5/6 months old, Harper’s Ophthalmologist decided it was time to get her into the OR to take a look in her eyes/at her optic nerves. She also ordered an MRI to take a look at her brain as well as optic nerve. To our dismay, the MRI and her tests/observations in the OR came back completely normal of both her brain and optic nerves. It was then that our Ophthalmologist told us that all of this had to be genetic because she can’t find the root of it and there were more things than just her eyes…so she thought it was time to see a geneticist. We got with our pediatrician and she sent in a referral to Genetics at Mott…only to find out there was an 18 month wait list at the time! I am from Grand Rapids and knew that Spectrum was a superior health system as well, so we called their genetics department and got a referral in to them. Blood was drawn, sent to a lab and the waiting game began. We received a call back from our geneticist saying that more testing was needed. So this time, Harper, her father and myself all had our blood drawn and was sent over to the lab again. This time around, we did a Whole Exome Sequence test and it would take much longer than our first one. So we waited.

From there on, it was a downward spiral of referrals. Our next referral was to Neuro. Which then trickled down to Physical Medicine & Rehab. GI. Sleep Study. Pulmonology. Aerodigestives Clinic. ENT. Audiologist. OT. PT. Speech. Swallow Studies. Feeding therapy/VitalStim. MRI’s. CT’s. Then later at the end of her life, Palliative Care and eventually Hospice.

From age 1-2.5, we were in and out of the hospital what felt like monthly. We heard back from her geneticist regarding the WES right as Harper was in surgery for a Direct Laryngoscopy, Supraglottoplasty with Carbon Dioxide LaserExcision, Flexible Bronchoscopy, with a Bronchoalveolar Lavage, CT scan of lungs & Placement of gastrostomy tube. As it turned out, Harper had a genetic mutation on her BCS1L gene. One mutation they had seen before, but one they had not…so no one really had any concrete information they could give us. No life expectancy guesses either.

Harper’s list of disorders reads like this: Mitochondrial Disease, Biallelic Mutation of the BCS1L gene, Bjornstad Syndrome, GRACILE Syndrome, Gross Motor Development Delay, Infantile Spasm, Bilateral Corneal Abrasions, Corneal Epithelial Defect, Nystagmus, Bilateral Hearing Loss.

There was much more, but how do you paint the picture of a very sick child and her 2.5 years of medical history into writing.

Through all of this…through the 2.5 years of our baby’s life…Harper rarely ever cried. Up until her infantile spasms started, we emailed our Neurologist in Akron and told him that we have never seen such a happy baby in our life. Harper was always happy, always smiling. But as soon as her infantile spasms hit, it was rare that we would see glimpses of our “happy baby”. I so desperately want to write about this beautiful life that Harper had, but in reality, it really wasn’t. It was a difficult life to live (I assume) and a difficult life to watch. We tried everything in our power to fix her…to save her…until we just had to come to grips with the fact that really, beyond loving her and providing her the care she needs, there isn’t a lot we can do. This is Harper. We had to let go of any hopes and dreams that we had for her and change that to new hopes and dreams, like focusing on her quality of life and making her life as enjoyable as possible by whatever means possible. As soon as we met with Palliative Care at Mott, our lives were drastically altered-for the better. They helped us focus on her quality of life. Ultimately, as things started to go downhill a bit, they led us to Hospice (of Michigan), of whom we will forever be grateful for. The care that they provided her, as well as us-the family, was invaluable. Second to losing Harper, I would say the next hardest thing was losing them in our lives.

Harper taught us more in her 2.5 years on this earth than I could ever put into writing. She has formed us into the people we are today and the term “she will be greatly missed” doesn’t even begin to explain the depth of longing we have for her. But she came onto this earth to help others. To help the genetics “world”. To help us and her sister become better people, caretakers. To help us realize that sometimes the smallest things that we take for granted, like a smile, is actually one of the things that we should celebrate the most. Harper will be forever loved and forever missed.