BROOKS, 4 (Anchorage, AK) | Rare Disease Day 2017

BROOKS, 4 (Anchorage, AK) | Rare Diseases: NOMID/CINCA

written by his mother, Holly

photographed by Laura Stennett Photography 

Today, when you meet Brooks, he is normally a happy, curious, funny, energized little human. But it hasn't always been this way. For the past 4 and a half years, we have been in and out of many doctors’ offices trying to figure out what was preventing Brooks from developing. 

It started at birth. Brooks was born a seemingly healthy boy; joining his two older sisters. I noticed immediately that something was very different, and there was something in me that told me to keep a close watch on him. As time went on during his first year, with the tremendous support of his pediatrician, we started down the path of evaluating his symptoms and trying to determine possible causes for what we were seeing -  transient hemipeligia, significant swelling in limbs that would come and go, urticarial rashes followed by swelling so significant it left bruises, delayed motor skills, allergies and intolerances to many foods, inability to sleep, and the most haunting to me was that look of pain in his eyes. 

With the help of many local and Seattle-based providers, we worked over the years to diagnose and identify a treatment course to get Brooks back on track with his peers. We had a number of frustrating dead ends, and after what seemed like endless testing and a lot of opinions at age 2, no one really knew what was going on and we were left with knowing something was very wrong, but no name or treatment path.

A big milestone was reached just after Brooks' first birthday. At 53 weeks old, he intentionally clapped his hands together for the first time (coordinated bi-lateral movement!). Even with significant therapy, he did not crawl or walk unassisted until 17 months (therapy was weekly from 4 months old, regression of skills documented). 

Brooks did not sleep more than 2 hours in a row until he was 56 weeks old when he slept for four hours. We thought he could not sleep due to pain - stomach or body (legs?), but had no real way to determine what caused the pain, or how much pain was he in. Brooks also has some vision challenges and has worn glasses since August 2014. The glasses have greatly helped Brooks' development in his ability to move through space. He continues to wear glasses today, and has undergone a number of focused testing to determine just how much, if anything he can see out of his left eye. It is clear his vision is significantly impaired in his left eye due to inflammation damage.

We met a doctor who had recently read a research paper on NOMID - Neonatal onset multi system inflammatory disease - also known as CINCA (chronic infantile neurological cutaneous and articulate syndrome). Brooks was nearly 3 years old when we learned of this very rare disease. We followed down the path for a possible NOMID/CINCA diagnosis with more blood samples during a flare up, x-rays of his knees, and a skin biopsy of the urticaria. With the results of these, and in consultation and a review of his neurological history with National Institute of Health a clinical diagnosis of NOMID was given, and we began treatment with Anakinra. 

Within 3 days of starting treatment, Brooks was a completely different child – he began playing for more than an hour at a time – where before he could handle only 10 – 20 minutes of activity before needing to rest. He could walk almost double the distance, although it was tough because he lacked the core strength, form and practice, but he seemed to want to move more. He had more energy, and he was able to be more organized in his motor movements. It was apparent to everyone around him – his parents, caregivers, and doctors who knew him well. It was amazing progress, and we have continued to see the same progress since then. 

I am grateful for the NOMID Alliance (http://www.autoinflammatory.org/) and for the research done by their organization in coordination with NIH. Without the past research and publishing of papers on NOMID, we may not have had a diagnosis and begun treatment, and Brooks might still be in a place of significant delays and inability to move freely. 

Brooks got fitted for and received ankle foot orthotics (AFO's) around age 3 and a half, and until then we had NEVER seen him run. 20 minutes after putting them on, he was so fast he slipped right by me and out the door of the office! We call the AFO’s his ‘fast shoes’ and I will never forget the look on his face of pure joy and freedom. 

We are so thankful for the research and treatment that others pioneered before us, and even though Brooks is doing well today we worry it won't always be this way. As he continues to grow he will need different treatments as the disease progresses, and while the medicine works now, it might not always work. That is why research is so important to us - there is much to be learned about rare diseases like what Brooks has - and we hope there is continued focus on his disease and others like him in the research community.

GAGE, 6 (Wasilla, AK) | Type 1 Diabetes

GAGE, 6 (Wasilla, AK) | Type 1 Diabetes
written by his mother, Heather
photographed by Kaile Meyers Photography

At the end of July/beginning of August 2011, Gage began to drink a lot more water and soak through most of his diapers. It started out slowly and progressively got worse. I called his pediatrician every couple of days about these symptoms and she would tell me to keep on eye on him and let her know if his symptoms worsened. I had heard of juvenile diabetes but honestly didn't know someone so young could get it. I wasn't even sure what juvenile diabetes meant.

Over the next two weeks Gage kept getting worse. He became very lethargic, would panic if he didn't have a sippy cup near him, would soak through every diaper, lost 4 pounds, and began to have this very odd odor to his breath - every classic sign of Type 1 diabetes.

I was at a co-worker’s son's birthday party on August 21, 2011, and trying to get Gage to eat something. I didn't care what he ate; I just needed him to eat something. At one point, Gage stood in the middle of the party and wouldn't move any further. He just stood there, staring off into space. That moment is seared into my brain - the lost look on my baby's face.

That night my husband, Gage and I were sitting at the dining room table eating dinner when I looked at Gage and made the decision to drive into Anchorage from Wasilla to go to the emergency room to find out what was wrong. I had it in my head that it was a really bad virus or infection and we would get an antibiotic and Gage would begin to get better. My husband tried to get me to wait until morning because by then it was 7:30 in the evening and I had had enough. There was something seriously wrong with Gage and I needed to get him help.

I drove into Anchorage and we were taken to a room in the ER almost immediately. The doctor wanted to run some blood tests and decided to put an IV in just in case some of the tests came back with something and they would need to give Gage medicine. Gage was in his stroller and barely moved when they put an IV in his arm. I was sitting there twiddling my thumbs, waiting for some answers, when this nurse burst into the room, grabbed Gage's stroller and started wheeling him out of the room. I grabbed our stuff and ran after her asking what was wrong and where she was taking my son. She told me that he had Type 1 diabetes and was very sick and he needed to get to the NICU as soon as possible so they could begin giving him insulin. At this point Gage was in severe Diabetic Ketoacidocis (DKA) and almost comatose. He was 21 months old.

Diabetic Ketoacidosis is a life-threatening condition that develops when cells in the body are unable to get the sugar (glucose) they need for energy because there is not enough insulin. When the sugar cannot get into the cells, it stays in the blood.

I was very scared and had no idea what this Type 1 diabetes diagnosis meant. They admitted Gage to the NICU and began multiple IV infusions of insulin and saline. His Blood Glucose (BG) was 670 and he was in severe DKA. They had a nurse in his room for a full 24 hours. I asked why the nurse was staying in his room. She told me it was that he was not doing well and they wanted someone on hand in case things turned for the worse. It was almost 24 hours before Gage became responsive and would open his eyes. If I had waited till morning I believe I would have lost him.

The next three days were a blur of needles, information, people, supplies, finger pokes and more information. ANMC had just hired a pediatric endocrinologist and she happened to be touring the hospital before she started working and Gage was her very first patient. We are extremely lucky to have Dr. Lescher as our partner in this very confusing and scary journey.

I brought Gage home after three days in the NICU and began our new life with Type 1 diabetes. He has always been very good at letting me check his numbers and give him his insulin shots. I think he understood that, although he didn't like getting so many shots, they ultimately made him feel better. We were also very lucky that Gage was able to feel most of his lows and I was able to treat him before they got too bad. He has had five diabetic seizures due to lows, all while he was sleeping, so for a little over a year he slept in my room so that I would be more likely to hear him if something were to go wrong. After his fifth seizure I talked to Dr. Lescher and we began the process of getting Gage a continuous glucose monitor. That device has saved us from a lot of lows and a lot of dangerous high numbers. The first night Gage had it on the CGM alerted me to four different possible lows so that I could treat him.

It has been a little over five years since Gage's diagnosis and he is a growing, thriving, smart young first grader who doesn't let diabetes stop him from doing anything. He started using an insulin pump in August  and tells people he is part robot with his pump and CGM. He is very proud of both of his devices. I tell him all the time that diabetes does not make him different. It makes him special. I refuse to let diabetes rob my child of living as normal of a life as I can let him. He is a hero to his family and we are all very proud of this young boy who deals with a horrible disease but doesn't let it stop him from being who he is.

Cameron, 4 (Anchorage, AK) | Type 1 Diabetes

CAMERON, 4 (Anchorage, AK) | Type 1 Diabetes
written by his mother, Jessica
photographed by Captured by Courtney Photography

Cameron is an amazing, spunky, energetic 4 year old boy! He is also a Type 1 Diabetic. He was diagnosed in April of this year (2016). 

I was 8 months pregnant with Cameron's little brother when we got the confirmation. My heart broke, but I was somewhat relieved to learn that there was a reason my baby wasn't feeling his normal self. 

Cameron has always been a quick learner. It never took him more that 2-3 times to try something, and he would have it down. This includes potty training. He was 1 and half when he was fully potty trained, even during the night. So, when he started peeing his bed 3-4 times a night, every night, we started to get really frustrated. Of course, our first thought was, new baby......he's just acting out. Then we started noticing how thirsty he was. 

At first, we didn't think anything of it because he's always loved his water. He'd prefer it over juice! But then he started downing it. Obviously with his constant thirst, there was the frequent urination. I would keep an eye on the color of the urine to make sure he was hydrated, not knowing that with Diabetes, the urine can be completely clear, but your body is still dehydrated. Come to find out, his body was urinating out all the sugar in his system. 

I was venting one day to a best friend of mine, and she said she knew someone, who like Cameron, had the same symptoms and was diagnosed with Diabetes. When I heard that, I did some research. 

Cameron had every single symptom. 

I immediately called and made an appointment with his doctor for an evaluation. The earliest we could get him in was 3 weeks away. 

One day, a Saturday morning, we (my husband and I), wanted to surprise Cameron by taking him to the movies. We were all dressed and ready to go, when we decided to stop at Walgreens and get a Glucose Testing Kit. 

Cameron had a really bad night Friday. We didn't really expect anything to come out of it, but decided to get one just in case. The awesome Pharmacist there did Cameron's test, because we had no idea what we were doing. When she took his glucose, the meter just said "Hi", which means his glucose was so high, it exceeded the reading the meter could give. 

We were advised to call the ER, and were told to immediately go in. Instead of a fun-filled day at the movies, we were in a hospital room trying to find out what was wrong with our son. 

Cameron was admitted from Saturday morning to Monday evening. He had Ketoacidosis, which is a life-threatening condition that leads to diabetic coma, and even possibly death. 

The amount of stuff you have to learn to keep your baby healthy is overwhelming. Cameron endures at least 4 finger pokes a day, and between 4-6 insulin shots a day...every single day. His carbs are measured out and accounted for at every snack and meal. 

Some days are "better" than others. It kills me when he asks, "Mommy, why do I have Diabetes, what did I do wrong to get it?" 

Nothing my Bug, you did absolutely nothing wrong at all. I choke back tears every time he asks me that.

Unfortunately, Type 1 Diabetes is brought on by a viral or bacterial infection. Cameron had some kind of virus, which was like a normal virus. It ran its course and he was fine, until about 2-3 weeks later when we started to notice his symptoms. He will have this his entire life. 

He is so brave. He is my Warrior ❤️

Bella, 9 (Anchorage, AK) | Type 1 Diabetes

BELLA, 9 (Anchorage, AK) | Type 1 Diabetes
Written by her mother, Bre 
Photographed by Dolce Vita Photography 

November 17, 2013 I awoke prepared for a relaxing Sunday. We had furniture shopping to do among other normal Sunday errands. Bella hadn’t been feeling/acting right for about 5 days. Nothing too terribly crazy…a little grumpy…eating me out of house and home…rarely complaining of stomach pains and drinking milk like it was going out of style. The increase in milk consumption had me a bit alarmed. My father had been a type 2 diabetic so I was familiar with the signs of diabetes. But this was different. That morning when I looked at her I could tell she had lost weight….rapidly. Her eyes had dark circles around them and she didn’t seem very alert. We headed out for the furniture store as I tossed around the idea of a sick Sunday pediatrician call in my head. While we were at the furniture store Bella found a bed that was set up and fell asleep on it…it was only 10:30am…this really set my alarms off. She was hard to wake and didn’t seem to be very aware of what was going on. Unbeknownst to me a worker at the furniture store had given Bella a cup of soda while we were paying for our furniture…pure fast acting sugar. Once we were in our truck I immediately called our pediatrician to let them know we were on our way….I knew there was something very wrong and I feared diabetes or cancer.

 

After dropping the boys off at home Bella and I headed to Providence. I remember it was a beautiful winter day and I could hear my own heart beat I was so nervous. She slept in my backseat. I carried her into the office and alerted the front staff of my suspicions. They immediately wanted a urine sample. My 6 year old happily gave them a sample and laid on the exam table. Shortly later a pediatrician emerged and confirmed she was “spilling” large amounts of glucose into her urine and also had large ketones (ketones are produced when there is not enough insulin to break down sugar in the bloodstream…when the body cannot break down the sugar it turns to fat and muscle). She instructed us to head for the children’s floor of the hospital….she would have to be admit and it need to be done quickly. Bella cried and I carried her…she was so weak that walking was not an option. The staff met us at the entrance to the children’s floor. What played out over the next few hours was what nightmares are made of. Bella’s first finger stick was too high for the meter to read (over 600 blood sugar)…so they wanted an IV draw for a lab sample. She was so combative and sick she fought like her life depended on it…finally I had to crawl behind her and bear hug her for the nurses to place an IV and retain the blood they needed. When the results came back I can still remember the nurse standing in the doorway saying “this is one for the books” she’s 1200. There was no reason in this world for Bella still to be conscious let alone talking and fighting like she was. They began slowly bringing her down with small doses of insulin and IV fluids, bringing her down too quickly could result in massive brain hemorrhaging and ultimately death. I had heard of type 1 diabetes but I truly knew very little about it. Over the next three days we were inundated with information about type 1 and what she would need to survive the rest of her life…it was overwhelming to say the least. She was released to us two days before Thanksgiving.

 
As we all know….carbs are a large part of most people’s Thanksgiving meals. I made all the dishes by scratch that year and figured out per serving how many carbs there were…we ate late….very late. Life wasn’t simple anymore. Everything was attached to numbers…and constant worry. How high was she? High sugars can lead to lifelong problems and internal organ damage. Let alone headaches, grumpiness, increased urination/drinking, etc. Or maybe she’s going to low? Low blood sugars can be very dangerous if not fatal….seizures and comas float through your head. At minimum lows can trigger stomach pain, weakness, lack of control of your extremities, and lots of crying. Every day is a new day….what worked the day before might not work today. And everything…I do mean EVERYTHING…effects blood sugars. Emotions, weather, sleep patterns, hormones, growth spurts, exercise, food, etc. With the diagnosis of Type 1 your sleep also goes out the window. How does one sleep when your child could drop dangerously low during the night and die? You now will spend your nights creeping into their bedroom to poke fingers and check blood sugars. Some nights it may be once, others may be an all night affair. Bella is almost three years into this disease. Each year brings an average of 2,800 finger sticks, 130 insulin pump site changes, and 36 CGM (continuous glucose monitor) changes. As a parent it’s painful to watch your child struggle on a daily basis with an invisible illness. Bella appears normal to on the outside (unless you catch her when she’s low). But her scars run deep. The daily roller coaster of unpredictable sugars take their toll.  

Type 1 diabetes can strike at any time to anyone regardless of age, sex, or race. It is the result of your autoimmune system attacking your pancreas and killing the insulin producing beta cells. There is no known cause and no cure. Overeating, poor eating, too much sugar, being overweight are just some of the stereotypes Type 1’s are hit with…all of these have nothing to do with the disease. Insulin is our lifeline not cure. Without Insulin Type 1 diabetics will die. Warning signs of type 1 diabetes that everyone should be aware of are extreme thirst, frequent urination, lethargy, weight loss, increased appetite, vomiting, stomach pain, fruity/sweet smelling breath, or heavy breathing. The symptoms can easily be misdiagnosed as simply a stomach virus or common flu. If you or a loved one are experiencing any number of these symptoms (doesn’t have to be all) please ask your doctor for a simple blood/urine sugar check…you may save a life.  Even with our daily struggles Bella is still a normal, happy 9 year old girl. She simply wants people to know that diabetes may be a part of her life but it doesn’t control it or define it.  We seek a cure and we battle each day…..She is my warrior kid! 

Resources :

www.jdrf.org    Juvenile Diabetes Research Foundation

http://www.t1dmodsquad.org/ Type 1 parent group

https://www.facebook.com/Sugarmom2/?ref=page_internal  Follow Bella’s story online!

Alexis, 11 (Anchorage, AK) | Optic Nerve Hypoplasia

ALEXIS, 11 (Anchorage, AK) | Optic Nerve Hypoplasia

written by her mother, Jennifer

photographed by Laura Stennett Photography 

I found out I was pregnant in the summer of 2004; I was nervous and excited. I thought about all of the things I would teach my daughter, and all of the things she could do. I never imagined all of the things she would teach me. I prayed for a healthy and beautiful baby.  I never dreamed how my world could be turned upside down.

When Alexis (Lexi) was born, they handed me a perfect little girl. She had a head full of curly black hair, beautiful lips and the cutest hands and feet I'd ever seen. She wasn't crying, and the hospital staff said she doesn't want to wake up, she wants to go back to sleep. Little did I know that was a sign of the journey ahead. When she finally let out a whimper, it was the most beautiful sound I've ever heard.

A few hours later we switched rooms, and the nurse turned on the light. Lexi was blue. She was rushed to the NICU, I had no idea why, and I wasn't able to see her until the next day. When I saw my little girl, she was hooked up to monitors and IVs. She had jaundice and was under UV lights, she couldn't regulate her body temperature, and her blood sugar levels were really low.

Her feet were poked for blood every three hours, and finally on day seven, she was diagnosed with low cortisol and was given cortisol replacement three times a day.  Hospital staff reassured me she would probably grow out of it and eventually be fine. Alexis was monitored for another three days before getting to come home.

I noticed she wasn't focusing on objects. At Lexi's two-month check up, the doctor shined a light in her eyes, and with a concerned look, she said I'm going to get another doctor. That doctor said, “I'm so sorry, but Alexis has no light perception, and she is blind.”

I felt my world come crashing down!  Thousands of questions flooded my mind: how did this happen, and what did I do wrong?

We were referred to a pediatric ophthalmologist, that doctor had a wait list of four months. Thankfully, they were able to see us within a month. This time she had light perception, and it was the best news. It meant she could see!

The doctor wasn't optimistic about how well her vision was "She will never be able to see color or shapes."  I didn't care; I knew there was hope! Alexis was diagnosed with Optic Nerve Hypoplasia/de Morsier syndrome. I was told she may never be able to walk or talk. Once again, I felt like I let her down.

As angry and sad as I was, I knew I had to be strong for her. No matter what, she was my little girl, and I loved every ounce of her.  We were going to get through this!

I never could have imagined how she was going to prove all of the doctors wrong! Alexis started receiving OT, PT, and services for the blind when she was three months old. Alexis has always been full of life; she is happy, loves to meet new people and loves anything that breathes, even insects! Yuck!

Lexi started to crawl when she was a year old and started to walk a few months after her third birthday. She started school when she was three, and she loved it! Lexi has hypopituitarism, which controls her growth hormone and metabolism, so she takes growth hormone replacement every night.  She is lacking thyroid hormones, and was diagnosed with adrenal insufficiency, which means she doesn't produce enough cortisol on a daily basis or in stressful situations.

Sometimes she has seizures when she gets ill due to her not producing enough cortisol. I decided I wanted to get Lexi a service dog, and with many peoples help, we were able to get Kona. She is in the process of being trained in seizure alert and cortisol detection for Lexi. It sets my mind at ease knowing I will be alerted if Alexis’ cortisol levels start to drop or if she starts to have a seizure.

Kona and Lexi are two peas in a pod. Two years ago, we found out about Camp Abilities, a summer camp for the visually impaired. Before then she didn't want to use her white cane, but once she saw everyone using one, she didn't mind using "Rosa."  At first she was scared, but by the second year, she stayed the whole week! Lexi has made many friends through camp, friends that will forever have an impact on her life.

I knew I always wanted to be a mom, but I could have never imagined just how much I needed her. She has blessed my life.  Lexi struggles everyday as much as she thrives. Life is what you make it, and everyday she makes me the proudest and happiest mom in the world. There is no cause or cure for kids with ONH. It occurs 1 in 10,000 births, and sadly is becoming the number one leading cause in childhood blindness. 

Jennifer said she has found this Facebook group for parents of children with Optic Nerve Hypoplasia to be extremely helpful in navigating their journey and finding support: https://www.facebook.com/groups/ONHSOD.parents.MAGIC/