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Welcome to Stryder’s Story!

Welcome to Stryder’s Story!
May 28, 2013 Eric Daams

Stryder’s Story is a blog about Stryder and his journey with chronic illnesses. Currently, Stryder is diagnosed with several rare conditions and other conditions that have no name. The Dr’s are not sure if he is just a rare case of one thing or many. As one Dr said “He is the perfect storm.”

Stryder has been un-diagnosed from Ehlers-Danlos Syndrome because his aortic root dilation, patent foramen ovale and other vascular issues and is now considered to have unspecified connective tissue disorder with vascular involvement. most recently, Stryder was diagnosed with Chiari Malformation and an abnormal Clivo Axial Angle (kink in his brain stem).  We were surprised but shouldn’t have been because his collagen is no good everywhere else in his body, why wouldn’t it be bad in his brain, too?

Stryder is profoundly hypermobile in all of his joints, including his small joints, which is rare even in the connective tissue community.

 

Previous Entry and History:

 

Stryder has had some problems his whole life, but nothing too serious I don’t think. They did tests for Cystic Fibrosis and Maple Syrup Urine Disorder etc. He was way under on the growth chart, but then when he was two he finally gained weight after we took him off of dairy so we were excited, then the DR asked what words he could say: one, maybe. So then began therapy. This video was only one year ago and shows a little of his delay after he started the intensive therapy mentioned below.

http://youtu.be/Tlwbj5hoKMA

He started with an early interventionist and then speech several days a week. He spoke in only words that started with consonants and ended with vowels and they didn’t make sense. Most words were “Ba” and anything ending in a “Y” was meemee and so was elephant. It was crazy and therapy wasn’t helping. We were told he would never speak, so we learned sign language with him. He was tested for autism and I believe if he had been tested younger (at 2 instead of 3) he would have been diagnosed with it, but I knew he didn’t have it. We moved from South Carolina to Oregon for more support from my family. When we moved, he started in a special school and got to ride the bus two days a week where he went to a pre-school that had half “normal” children and half special needs.

 First day of school

Stryder was diagnosed with Sensory Processing disorder right before his third birthday. It answered a lot of questions. He would not get wet and HATED baths, turning blue and convulsing and screaming terror. He still does this to this day when we wash his hair or brush his teeth. Through therapy, most of the SPD is hidden in the outside world. He is extremely sensitive to others, breaking down with hurt feelings over the smallest things. He will gag on foods that feel strange in his mouth and start vomiting. His first haircut we went to a place that specializes in children. Stryder was very anxious but not really crying a whole lot, but then he threw up all over the poor lady. I tried cutting his hair and that didn’t work either. With some therapy, he is now able to get it cut by one lady here in town at Cougar Cuts: Miss Amy.

We had seen some DR’s here and there and every one of them said they had never seen or heard of such a person as him. His blood work was always abnormal where it shouldn’t and normal where they would think it shouldn’t. We were even told he probably had cancer at one  time because he had all the signs: night sweat, large lymph nodes (which they were measuring monthly and they kept growing) and his CBC was off with low Neutrophil counts. He had a lymph node biopsy after the ENT had a heart to heart and said it is probable. It came back negative, which at the time was a relief but now I think at times at least it was treatable.

In the mean time, he was getting really loose joints, being able to turn his legs inside out, hips dislocating when getting shoulder rides, knees dislocating and shoulders being pulled out. His skin was extremely soft, more so than any other person I have ever felt and he had cousins that were the same age that we could compare. The Doctors all were saying he was intriguing and interesting, but had no answers. Then his neurologist  who usually only saw children, said that we needed to go to the Mayo in Rochester. He said that this Dr. Strand would be able to diagnose him for his speech within an hour, he guaranteed it. We had done an EEG with this Neurologist, Dr. Bell, and an MRI. He was looking for a tumor in the MRI, negative, and the EEG he was looking for seizures, which didn’t show spikes, but did show slowing in areas of the brain. He was not familiar with this finding.

If you can see what this is doing to the outside of his body, imagine what it is doing to the inside, where you cannot see. Stryder is in jeopardy of having anything detach or “explode” at anytime with an increased chance of having an aneurysm anywhere in his body.

 

I remember being excited and thrilled to see such a Dr. It turned out that Dr. Strand was one in a million and getting so see her was near impossible as well as getting accepted to the Mayo clinic. We heard stories of others who tried and couldn’t get seen, so I started to get nervous. We decided to see anyone on Dr. Strands team just to get in. My theory was that if they were trained by her, then they would help too and it didn’t matter if we saw the best, I just wanted answers and didn’t want to wait. My mom went with me on this trip for support and help. We didn’t know what it was going to entail.

We made the first trip, and at the time I thought ONLY trip to Rochester. We had a neurologist as his primary as the Mayo gets a list of symptoms and determines who you should see and they schedule you for tons of appointments in a week span. The neurologist recommended we saw a Gastrologist, sleep study and of course speech. Stryder had chronic diarrhea with constant stomach pain. He literally had only two or three solid diapers at the time. (He was three when we went in July).

The speech pathologist, Becky, met with us and within seconds diagnosed him with Severe Apraxia of Speech. Apraxia had been mentioned many times in his life but no one had seen true apraxia, obviously, so they kept saying it was it. Apraxia is where your mouth does not say what the brain thinks, so words do not come out the way they should. Becky said that she really wanted us to see Dr. Strand; we were so excited to see the TOP Dr. and agreed. Dr. Strand walked in and said that she only had a minute, put Stryder on the counter and was so excited!!!! She said that he was a perfect candidate for her Intensive Speech program. We would come back for 6 weeks for speech therapy, twice daily with evenings adding music therapy. She spent over an hour talking and doing her thing. I was amazed at Dr. Strand and her caring nature and as it turned out, she RARELY chooses children to join her program, there were literally on a few that have ever done it but it was always successful. Stryder speech therapist at home couldn’t believe we would get this opportunity, she knew of Dr. Strand and knew this was a once in a lifetime chance. At this time, Stryder could say about 10 – 20 words but not clearly. We knew what they were but there were errors.

At the same visit at the Mayo, Stryder did a sleep study because he never slept and we didn’t know why. He would awake at night since he was an infant and just play, never crying, just awake. During the sleep study, I was in the same room, in a bed next to Stryder and in the middle of the night, he woke. Stryder was crying quietly and his arm was moving up and down and I was trying to comfort him. The next day during the consultation they showed me the video and asked how often that happened. “All the time” was my response and it just so happened that the night before he was in bed with my mom and kept hitting her with rigid hits, all night and she was hurting from it the next day.

As it turned out, the Dr’s had said that he was having a seizure during that moment and I was there, next to him, not knowing. They also said that he had the same slow waves that the other Dr. had noticed along with Upper Airway Resistance Syndrome and Sleep Disturbance and Movement Leg Of Sleep Periodic (Restless leg syndrome). I was blown away. I really had no idea that he was having seizures, but looking back and now learning about them, he had them his whole life. He often shaked his hands when eating and had many staring spells and even his bus drivers said they saw him having seizures on his bus and assumed we knew about them- there is nothing you can do for seizures so it was not alarming they wouldn’t do anything. He had also had a few falls, out of nowhere, he just feel and didn’t catch himself and ended up with huge bumps, which now were most likely due to seizures.

 

 

Stryder also had blood tests for allergies because he had been to the ER twice because of a reaction to almonds. All the blood work came back negative, but they said to still not give nuts of any kind- he had several reactions to almonds and the blood work didn’t matter in this case.

His primary at the Mayo started him on Keppra right away. We went back home after some speech therapy and many, many tests and my brother asked him what changed because he was “talking”. Granted it was only a few words, but they were words. It was amazing! After starting on Keppra, it was if a miracle happened and words started coming.

Just a few short months, we went back to the Mayo an started his intensive speech therapy.

The GI did many tests and those came back with some of the same- most being normal but his CBC was abnormal again and yet he never looked sick. He should not have had low Neutrophil counts but they were. He also had some pancreatic tests that came back abnormal (Amalyse) and Xrays which showed he was constipated even though he had loose stools. He had an endoscopy and colonoscopy as well- both were pretty normal although there was a tear and some grease. Other tests were done and we were told to continue tests at home and he could not have sugar, nothing to drink but water indefinitely and other diet restrictions.

We also had scratch tests and every other test you can have done while there. Most were negative but there were a lot that weren’t, but no answers. It was at that time we also saw a connective tissue specialist about Stryder’s loose joints. They determined that it was Ehlers-Danlos Syndrome, but didn’t know the type. There are tests for some of the types but only one was accurate. Stryder was tested for vascular because as it turns out, there is a strong family history: I tore my esophagus open which is extremely rare and my uncles on my dad’s side had stomachs that ruptured and my grandma on that side died from an aneurysm. This test came back negative. The geneticist there wanted more tests and said the same as the others, he was a rare gem! We saw a physical therapist and an occupational therapist as well as his neurologist again. There were test after test done and many more they wanted us back for.


Getting fitted for his AFO’s (Braces)

We stayed at the Ronald McDonald house the entire two months. Stryder was the hardest worker and amazed all the Dr’s. When he started he had only 20 words and when he finished he had 100’s. He was also asked to be the Ronald McDonald house Ambassador for that year and as it turned out, they raised more money with his story than any other, ever! Stryder was also in a commercial for HP, and in the video he was supposed to say “Thank you HP” and just couldn’t and then at the very end, I said “Thanks HP” and he repeated it exactly! You can see in the video that it was still a struggle and it reminds me where he came from. The Ronald McDonald house was amazing, with many amazing volunteers and staff. I often got advice from many of them and especially from Amy, the Child Life Specialist. Stryder loved it there and so did I. I can’t imagine what it would have been like if we had not been at RMH.

Thank You HP from the Ronald McDonald House from Shawn Fagan on Vimeo.

We were told that Stryder may not live past the age of 6 and that we should put him in a wheel chair because he is damaging his joints and tendons too badly. I talked with Amy at the RMH and I came to the conclusion that this was not an option. Yes, we knew when we would go on walks or to events we would have to carry him or put him in a stroller, but that that he would run and play like other children. Stryder does hurt, and even from short walks to the mail box, but he also loves to play like other children and part of pain tolerance is not thinking about it-when he is playing he is not thinking about it. There have been many times he has hurt and thrown up from the pain and limp for days, but he has memories he would otherwise not have.

We got back from the Mayo and right away we had more tests to do that they wanted AND they wanted us back for another sleep study in December, we had just returned home the end of November and again in March , April and May for the other departments. We just couldn’t afford the trip or the medical bills.  We go to Shriners every six months, it’s in Portland, a three hour drive and we also go to Doernbechers, also in Portland. Stryder has speech therapy in Bend, about an hour away and also sees his neurologist there (Dr. Bell) often.

 

Stryder’s speech was pretty good. Although there were some words that he had some trouble with, he was speaking almost perfectly, although he was robotic. The team at the Mayo was amazed and tried hard to give us things to do at home too. Dr. Strand said that she had never had such a huge improvement and it had a lot to do with Stryder’s willingness to learn. He did not have to be bribed as most children, he stayed sat down and learned. Dr. Strand did many tests for her studies, wanting to prove that a 3 year old could do them, although Stryder was not a “normal” 3-year-old. Stryder had the most laid back personality, listened and followed directions to everything, no matter who asked him , he would do it. We call him the animal whisperer; animals love him and come to him before anyone else and usually they come ONLY to him.

This dog came to him on a hay ride, snuggling to him and then getting off-ignoring everyone else completely.

This dog came to him on a hay ride, snuggling to him and then getting off-ignoring everyone else completely.

Holding a bunny

Holding a bunny

Dr. Bell has been amazing and helpful and always right. He suggested we see a geneticist but also said that the Mayo would be best. We know that, it’s just not possible and with the upkeep, we need to stay local, or at least within a few hour drive. We have increased Stryder’s keppra several times and still going for EEG’s to see if they will turn normal and the slowing stopped.

Stryder is having huge memory problems and many seizures that are not controlled. We went the entire 2012 summer without any problems and then in September everything came falling down. More seizures, more pain and his talking was back to being robotic. He has since recovered although his memory is very spotty.

Stryder has a gift for numbers and also anything visual. He has always tested well, even in the speech and language tests. Dr. Strand would often try to test him, knowing something wasn’t right, but every time he would pass. Now I know it’s because they were visual and he has a perfect visual memory. He can be given ten pictures, turn them around backwards so he can’t see them and name them all.  And numbers, he knows them all, even recognizes them. Stryder’s memory is slowly getting more and more holes. The first time I really noticed something bad was happening was recently, just last month. He often has cottage cheese with peaches, at least every other day. One morning I asked if he wanted some cottage cheese and he said “What’s cottage cheese?” I really thought he was joking, but he honestly didn’t know and it scared me to death. He has forgotten who his grandparents are, his teachers and even his dad. I believe now it’s a language problem. He knows who his dad is but when I said “Your Dad” he was asking who and what his name was, but I know he knows who his dad is. He can’t remember how to do certain things or the names of things, easy things like donuts.

Stryder and his big sister, Kasiah, who he adores!

Stryder and his big sister, Kasiah, who he adores!

Stryder still hurts often, but never shows it. I will see him shaking his hand when coloring or shaking when drawing or limping while walking. He will not tell you he hurts, but he has gotten a little better when I ask him. He loves school now and especially the little girls. He started out this year not wanting to be social but has turned around. I’m not sure if it’s because  we told him to talk and play with other children or not, but it doesn’t matter because now he is doing it on his own.  He is writing his name and loves to color and jump and play with all the other children. There are days when I think everything is normal, but then something always happens to show me otherwise.

Just this Thanksgiving week Stryder woke at 6 in the morning vomiting. We thought at first it might have been a seizure, because that happens often after his seizures, but as the day went on he wouldn’t stop. All night he was vomiting so I took him to urgent care and then had to go to the hospital. He did not have a fever and did tests and it was determined that he probably had a virus. He was on an IV and medication to stop the vomiting. For that entire week if we tried to wean him off he would throw up again. My husband got the virus and so did my daughter. Both were over it by the next day and neither had thrown up but a few times. I never did get it, so it was a pretty week bug.

At the hospital with a virus- dehydrated and hooked to IV

At the hospital with a virus- dehydrated and hooked to IV

Previously, Stryder had some labs done. A test called a Complete Cytokine Analysis.  This test has three parts. The first being his “normal” blood and another with bacteria added and another with something else added. The first one showed that Stryder already has an activated immune system, meaning his body is fighting itself even when he is not sick. The others are supposed to respond, fight when something is added to it and Stryder’s does not, so he has low immune activity.  I emailed Dr. Schrippa because he was just not getting better. I was so relieved having him explain it to me in words that made sense to me. Stryder is better, but caught a cold shortly after that he is still fighting. Stryder lost 5 pounds and went down to 35lbs, which is very underweight for a boy his age (5).

The presence of fever, vomiting and diarrhea in a child and household family members with similar symptoms is most likely acute gastroenteritis. We do not know Stryder’s underlying overall problem with verbal apraxia, seizures and hypermobility, however we do know that cytokine response plays a role in fighting off an infection by microbial organisms and in Stryder, this part of his immunity is abnormal. It is known that rotavirus is the most common cause of severe gastroenteritis in children. When it comes to fighting off an a viral infection, IFN-gamma is important in eliminating virus particles by activating antiviral pathways. In Stryder, this cytokine, IFN-gamma does not respond when stimulated to do so and is conceivable that Stryder has a hard time fighting off the rotavirus that is causing his gastroenteritis. The underlying cause of his immune probable may be a component of the his overall issues that we will become clearer as we go forward.

In the meantime, make sure that he is well hydrated, has enough electrolytes (liquids like broth have electrolytes) and a bland diet (BRAT diet is okay, but make sure he is getting his electrolytes AND some protein).

Skin infection because his immune system cannot fight things off.

Dr. Bell thinks we need to go back to the Mayo and I was ready to but then I realized all the appointments we had missed already because it was just too inconvenient to go, too costly and far. I decided that I need to find a team here that can help, so I reached out to a geneticist in Bend, Dr. Schirripa. Dr. Schirripa has been phenomenal. He is always on call and emails regularly. Our first visit was half the day. He thinks that Stryder has a rare genetic disorder that only a hundred or so people have. Stryder is seeing a specialist in Baltimore on Jan 15, 2012 to get a firm diagnosis (hopefully) and a treatment plan. Dr. Francomano is a connective tissue specialist who is well known for getting all the balls in a line. No one locally can help with the pain and treatment as they are unfamiliar and she will get a plan for everyone to work with.  We also have an appointment with Dr. Bell on Dec. 15 for another EEG and follow up and then Shriners on Dec 19 and Doernbechers (neurology) on Dec 27. This does not include his lab tests we are doing and his weekly speech therapy and also follow up with local doctors, primary and physical therapy. It’s very expensive and time-taking, but Stryder always has a smile on his face.

Most recently we applied for a service dog from 4 Paws for Ability. I researched and researched, looking for a seizure scent service dog and most have a waiting list of 2-15 years and most do not have service dogs for children. 4 Paws asks for donations of $13,000 to help for the dog and that was a big consideration, but it is our only hope, so we applied and was accepted. We are waiting for the contract and will start fundraising soon. The Middle school in our area and The Sparrows Club has said they will help any way they can to help with fundraising so I am optimistic it will happen. After funds are raised, we will get the dog in about 11 months.

Stryder's 5th Birthday - November 27, 2005

Stryder’s 5th Birthday – November 27, 2005

 

I will be posting more about the organizations that have helped and become a part of Stryder’s Story soon: The Sparrow, The Ronald McDonald house, 4 Paws for Ability, the Crook County Middle School and many more.
Diagnosis:

 

Diagnosis:

*Epilepsy (complex partial with intractable epilepsy)
*Landau-Kleffner Syndrome
*Unspecified connective tissue disorder (testing for Loeys-Dietz and Filamin A deficiency)
*Auto Immune Disorder (unknown)
*Sensory processing disorder
*Apraxia of Speech (was severe, now resolved)
*Chronic Rhinitis
*Aortic Root Dilation -z score of 3.55
*Patent foramen ovale with right to left shunt (“hole” in the heart)
*consult for Neurofibromatosis;
*Mast Cell Activation Disorder
*Upper Airway Resistance Syndrome
*Suspected mitochondrial disease (some Dr’s have mentioned, but not tested)
*Abnormal CBC
*Pancreas Disorder of unknown origin

Connective Tissue related:
~–hypermobile joints that often dislocate
~–possible tethered cord
~–easy bruising;
~–atrophic scarring;
~–stretchy, soft skin;
~–translucent skin;
~–high narrow palate;
~–soft ears;
~–blue sclerae;
~–hypermobile shoulders and hips;
~–hypermobile patellae (knee cap);
~–straightening of the cervical lordosis
~–straightening thoracic kyphosis;
~–pes planus;
~–ankle pronation;
~–hypermobile small joints in the fingers

 

 

 

 

 

 

 

Condition: Ehlers-Danlos Syndrome
City, State: Prineville, OR

Stryder’s Story:

Stryder is an amazing 4-year old little boy with a contagious smile and a personality that makes you laugh. You would never know that he is battling for his very life each and every day. Stryder’s problems began when he was 3 months old and very underweight. His parents, Angela and Warren, deleted milk and dairy from his diet and he began gaining weight. At 18 months old, he could only say 2 words. He began Early Intervention. He was diagnosed with sensory processing disorder as well as other disabilities. He began speech therapy with no improvement.The family moved to Prineville in the summer of 2010 to be closer to family. Stryder’s condition continued to worsen. You could not wash his hair or brush his teeth without causing him to shake, have convulsions and turn blue. He could not stand loud noises. Testing for Autism came back negative. Stryder began attending preschool. He still couldn’t speak more than 10 nonsense words. His parents were referred to the Mayo Clinic.In August 2011, Stryder was able to see a leading speech physician at Mayo Clinic. They diagnosed him with Childhood Apraxia of speech, a sleep disorder and discovered that he was having seizures at night. After returning home, Stryder’s teachers at school noticed that something was different about his legs. He was taken to Shriner’s hospital to have his hips checked. They were told that he was built like a child with Down’s syndrome and there was nothing they could do. The family then returned to Mayo clinic in September. Stryder underwent 6 weeks of intensive speech therapy and progressed very quickly. However, doctors still felt there was something wrong.It was then that Stryder was diagnosed with Ehlers-Danlos Syndrome, a disease that causes problems with collagen, the substance that provides strength and structure to skin, bone, blood vessels and internal organs. Ehlers-Danlos Syndrome is a group of inherited disorders marked by extremely loose joints, hyperelastic skin that bruises easily, and easily damaged blood vessels. Children of Stryder’s age are never diagnosed with this condition which is why doctors did not test for it sooner. Angela and Warren were told that their little boy should not do anything physical and that he should be in a wheelchair. They were told that Stryder could rupture his internal organs at anytime and die suddenly. They were also told that there was a good chance their little boy would never survive past the age of six.Stryder’s parents don’t know how much time they have left with their little boy as his condition worsens almost daily. They are letting him just be the beautiful happy little boy that he is, running and playing while in constant pain. They know that soon enough he won’t be able to walk anymore but are doing what they can to prevent it. He dislocates his joints often and has allergic reactions to anything at anytime. He has a pancreatic disorder, hydrocephalus, heart problems and can have an aneurysm at any time.DIAGNOSES#1 History of verbal apraxia with recent improvement#2 History of seizure

#3 Joint laxity with positive family history

#4 History of esophageal tear in Mother

DIAGNOSES

#1 Developmental delay

#2 Speech delay

#3 Diarrhea

IMPRESSION/REPORT/PLAN

Medical diagnosis (impression):

#1 Pes planus with overpronation

#2 Joint hypermobility

#3 Speech apraxia

#4 Seizure disorder

DIAGNOSES

#1 Speech apraxia

#2 Concerns regarding motor development

#3 Hypotonia with hyperflexibility, rule out Ehlers-Danlos

#4 Seizures

IMPRESSION/REPORT/PLAN

#1 Mild upper airway resistance syndrome

#2 Elevated periodic limb movements of sleep

#3 Continuous polymorphic delta slowing in the left posterior temporoparietal area (T5/P3)

#4 Possible nocturnal seizures

#5 Language delay

DIAGNOSES

#1 Expressive language disorder

#2 Childhood apraxia of speech

#3 Abnormal EEG with recorded seizure

DIAGNOSES

#1 Short total sleep time

#2 Restless sleep with frequent awakenings

#3 Low normal ferritin level (36)

#4 Expressive language disorder with verbal apraxia and hypotonia

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