Meet Our Children | NKH Crusaders

Meet Our NKH Children and their families

Meet my Son Thomas

So many times I sat and wondered how and why. I know that God has a greater plan then I can see, then any of us can see. Thomas is s true blessing in everything. He has taught me how to love deeper, laugh harder and see beyond the impossible. It is hard to imagine that my 7 year old son has taught me so much in his life already. I am truly blessed to have him and his big brothers Paul and Ryan in my life, my heart and in every breath I breathe.

Thomas was born in, 2004 he looked perfect from all apperances but we knew right away there was something wrong. We were induced with Thomas at 36 1/2 weeks due to unreactive strips, failed non stress tests. We did not know it was NKH we knew he had Pulmonic Stenosis and would turn blue around the mouth, was sleepy, had severe jaundice, difficulty feeding. He was a very quiet baby, rarely cried. Thomas was hospitalized in the first month of lifefor a severe infection. He was hospitalized many, many times that first year of life with infections, feeding issues, failure to thrive. He was delayed in gross, fine motor, speech. He had a whole team of doctors that where treating his, GI issues, heart issues, Infections, Physical therapist, OT therapist, speech and feeding therapist. We would take 1 step forward and 3 back. Life in our house was a true roller coaster ride. Thomas was diagnosed withn a DNA based Immune problem, he had no titers to any of the baby vaccines, he was given the vaccinations but just doesnt convert immnuities, he also had extrememly low IGG and subclass deficencies. We tried to revaccinate but he still did not convert, leaving him with no protection to fight every day illnesses. A cold to me would end up being pneumonia, and requring hospitalization and IV antibiotics to Thomas.

We lived this way for many years, but even after his immune issue was discovered he had other issues we just couldnt explain. We had a amazing Nurse practioner who felt we just we missing something, she spent a long time looking over Thomas blood work and noticed that during some of his hospitalizations he had elevated glycine. We were aware of this for awhile and told her we had spoken to our pediatrican who told us not to worry that he couldnt possibly have NKH. We trusted him , Mary felt that we needed to talk to genetics and metabolism. We did and they felt that Thomas needed a larger workup. 3 months later after all the testing,DNA we learned that Thomas did in fact NKH. he has a 1 know mutation and 1 unknown. We were devastated and angry. We were lucky enough to have several families from the NKHIFN network reach out and walk us thru our questions, and emotions. I will never be able to Thank them enough for all the love and support. Around the time of his NKH diagnosis we tried to start Thomas on IVIG therapy to replace the missing IGG and antibiodies and help give him some protection. Thomas got very sick a short time into the infusions, almost catatonic, unresponsive. The doctors told us is was an allergic reaction and next time we would try a different product. Me being the nosey mother that I had become, googled and researched the two products to see what the difference was. I was shocked to learn that both products had the stabilizing agent of glycine. We immediately called the immunologist who said he didnt think it was what caused his reaction and we should proceed as planned. We took Thomas in and within minutes of starting the infusion, he went from awake and talking to very sleepy and unresponsive, eyes where open but no response from him at all. The nurse had never seen anything like it and shut him down. We asked them to draw his glycine and the doctor did. Thomas had recieved 27ml out of 250 and his glycine went from 524 to 1980. he was admitted and watched. Since this time time we have found on ly 2 products that are glycine free. The first he truly had a allergicv reaction to and we are unalble to use, the second we are in the process of trying now. It is given sub Q weekly and is still causing him to get sick for several days after, including, rash, fever, severe headache. We are hoping his reaction will lessen as his body adjust to the new medication.

Thomas is a trooper for everything he has been thru and continues to go thru. A year ago we were talking to Dr VanHove who is at the University of Colorado about NKh research and what he would like to see change. He has alot of ideas on what needss to be done, updated, studies he wants to preform and told us he would need around 70,000 to make the first studies happen. We at that time established the NKH CRUSADER FOUNDATION thru the University of Colorado to raise money for Dr VanHove for research. Several NKH moms worked SO hard for our first fundraiser last October 2010. I was blessed to have some amazing friends and family also step up and help. We raised 39,000 and now 1 year into our fundraising we hve raised 49.000.00 So many families have united together and made this happen. Every dollar makes a difference.

This has been a difficult journey as a mom , but an even more difficult journey for my son Thomas. I will continue to raise money for research and spread awareness. I will continue to fight for all that he needs. I will try to remember stop and enjoy the blessings on the way.He is the one that has to go thru it every day. He lives with NKH, PID, Pulmonic Stenosis, GI Issues, and yet he smiles, loves so freely.His smile lights up room and my heart! I look at all of my children and realize how blessed I am. We are a family united by love, and yes we have had our hard times as a family but we are stronger because of it. We cherish all the good times and try to find something we can learn from in the hard times. Life continues to move forward and I do not know what tomorrow will bring but I do hope that the money raised will make a difference in Thomas' future and in the lives of our friends who have children with NKH. The money that is being raised has already allowed Dr VanHove to take a sabtical and focus on NKH. Thank you to all the families that gave of their time and raised money to make this possible

Meet Atiya one of our NKH children and her mom Jessica.

HI my name is Jessica i have a daughter,Atiya(a-tie-ya)(means gift) who suffers from a rare uncurable genetic disorder called non-ketotic hyperglycinemia(NKH) its a 1 in 60,000 chance of having a kid with NKH and not even 500 cases worldwide.Its when your bodies missing the enzyme to break down the amino acid in protein,called glycine.to much glycine damanges your brain and causes many life threating problems.most kids do not make it home. My pregancey was mostly normal.I never felt atiya kick really hard,it was always soft taps,she was head down the whole time and my placenta was low.but seemed everything was fine. ON june 30th,2009 i went in the hospital for them to induce my labor after being a week over due.doctors started induction around 10am and by 7:42pm atiya was here.during labor her heartrate dropped 4 times and drs had to use foreceps to help her out fast!when she came out she looked fine at a healthy 8 pounds 2 oz 19 1/2 in long.but she didnt cry.we asked over and over agian why she still hasnt cried and they told us some babies dont cry at first.never in MY life have i heard of a baby not crying.so for the next two days we noticed we had only seen atiyas eyes one time,she was sleeping alot,wouldnt eat,still had'nt cried and one time she started to lose color and we had to flip her over and stimulate her.nurses told us she was tired from the delivery and still learning to do things on her own,that she was just fine!so we got to take her home.within the next two days at home she still hadnt cried,wouldnt eat more then a oz,if even that,slept all the time.I had to set an alarm just to feed her cuz she wouldnt even wake up to eat,and she was very floppy and i had noticed her doing little jerking movements, also she had had 2 more episodes of her changing colors i believe due to not breathing,in which we had to flip her over and stimulate her.so on july 5th we took her to the doctors told them and showed them that she wouldnt wake up or eat.she got admitted that day,she was so dehydrated they stuck her 13 times and still couldnt get a iv in.so we got transfered to the childrens hospital.After 2 spinal taps,several blood test,e.e.g's,a MRI,very close monitoring and 7 long days we was told she had a subdermal hemmatoma first but then the big test came back a few days later and the dr's took us into a room and told us atiya had a rare genetic disorder called non-ketotic hyperglycinemia also known as NKH.they was very shocked and didnt exspect these results,they went on to tell us that she would probably end up on a ventalator and wouldnt live past 28 days. IF she did make it,which they doubt it,she would be mentally retarded,have eatting problems,breathing problems,low body tone,uncontrolable seizures,wouldnt walk or talk and wouldnt live past her teen years.in the whole history of university of virginia childrens hospital records they had only seen two other cases of NKH.But we held on and kept fighting for our baby.they started her seizure meds and sodium benzoate,and inserted a n-g tube(feeding tube) up her nose and down her throat to her belly to get fluids in her to get her hydrated again.her oxygen had dropped a few times during our stay but never dropped low enough to serously panic.on july 28th atiya had surgery to place a mic-key button(feeding tube) through her belly straight to her stomach.they did this because they said she would need it long term and it would be easier to give her meds through.after a month stay at the hospital atiya had gotten stable and was doin pretty good according to what they had told us.they couldnt believe she was still with us and doing so well.so on aug 6th we got to go home.this was all very overwelming to have your first child and have to deal with all this.we were constantly remined she wouldnt make it.but now that shes 20 months old the doctors say they are very happy and suprised to see her doing so amazing!she use to roll side to side drink half her bottle,even tried to hold it sometimes and eat baby food like crazy,this was all around the age of 6 months.then she started having infantile spasms,which are the worst and hardest kind of seizures to control.she then started to cry for the first time ever and stopped doing almost everything!at this point now,22 months old she has poor head and trunk control,cant sit up,cant and wont take anything by mouth.she wont even attempt to suck a bottle and therapy dont want us putting anything in her mouth because she might asperate,so she gets everything through her pump.she has seizures every day.she has corictal blindness,meaning she can see but not like us and only bits and peices.they explained it as looking through a peice of swiss cheese thats always moving.she'll look at us for breif peorids. To let me know whats wrong with her she has different cries.but sometimes theres nothing we can do to get her to stop screaming. she has never been on a vent or oxygen.she weighs 25lbs,she dont move much at all and wont unbend her knees all the way.she takes 10 medicines 3 of which are seizure meds.she is like having a 25lb newborn.she has had two other breif stays at the hospital for highheart rate and breathing hard which went away on its own.the medicines wont stop the damange that the glycine is doing to her but it will help slow it down.her level in her spinal tap was 127 when she was born.normal is anything under 19.her blood level was 504,which wasnt high,normal being under 527 i believe.now we only check her glycine level in her blood and its never higher then 200,thats right where they want it.atiya is a wounderful gift from GOD and we are very blessed to spend each and every day with her giving the odds.

This is Tyler's story,

This little boy and his family have captured a piece of my heart. Tyler's fight for Life My name is Danielle & I would love to share my son Tyler's story with you.. We are a happy family we have Michael who is 18, Bryan who is 14,Daniel who is 2 & Tyler :) when I was pregnant with Tyler I had no issues the only thing that came up in a sonogram was that Tyler had club feet :( I thought my poor baby how could this be? The doctors said it was nothing he will be fitted for casting & wear special shoes & it could be corrected no big deal...well I cryed they had me also do a amniocentesis to test for further issues..I was so scarred but I did it anyway..waiting on those results was so scary.....but they came back fine! Nothing was wrong just club feet.......when I went into labor 8/18/2012 it was quick just like my other children....the only thing was when Tyler came out he didn't cry!!! I remember screaming why isn't he crying..... I could see him moving around & then finally he let out a cry I could never forget it seemed weak but it was music to my ears!!! We cried with joy & the nurse placed Tyler in my arms he was perfect! We looked at each other & fell in love! He was 6 pounds 6 ounces & was born at 1:32am he was adorable he had reddish hair & we couldn't wait for his brothers to meet him & the rest of our family..he took his bottles & we had lots of visitors he seemed sleepy but was on & off a wake...one thing I kept saying was he ain't crying? The nurse said oh yes he was in the nursery when we washed him up...but I didn't hear him...the next morning one nurse said to me that his eyes rolled back & they called a specialist to look at him...,I cried & decided to call my doctor & she came to look at him..he seemed fine..just sleepy but everyone in the hospital said he was good to go home...due to his club feet my pediatrician which was mine when I was born & she is Tyler's now so she pushed for an appt the next morning. We got lucky she is the best doctor!! & a pushy one!! Ok so we went home yay!!!! Got home around 12;00 settled in & Tyler still wasn't crying.... He would take his bottles & pee,poop....something just wasn't right!!!!!! My 18 year old son said mom Tyler's a quiet baby.! well I called dr Malva.. & explained everything...... She said make him uncomfortable & we did. still no crying! she told us Take him to emergency room She will call ahead to let them know we were coming..... So we did...we got there & they took some blood & he didn't cry!! Ummm I cried... Something ain't right..the doctor came in examined him & said he is just fine...he is just a little sleepy...u are lucky enjoy him!!! Tyler is taking his bottle & said you can go home... That night I didn't sleep...I had to feed him he still wouldn't wake up . Thank god we had that appt for his club feet early in the morning..still Tyler was in a deep sleep coma like....I just didn't understand but me & his dad knew something was wrong!!! We got to the appt around 7 am... & at this point we are scared this ain't normal... We see the orthopedic & we begged them!!!!!!!!!!! We told them that we went to the emergency room last night he ain't waking up they sent us home...& he is still the same not crying!! It seemed like he was lifeless..... Well they listened checked his color,breathing & said the same thing .he is sleepy but enjoy him.. Some babies are just tired..... What!!! Babies move when u put water on them..Tyler didn't even move... It was so devastating.... no one believed us. They set up an appt in NYC to have his feet casted the next day...Well this is the 2nd time being turned away .that Tyler is a sleepy baby.....we left the hospital feeling so hopeless :( I remember Walter saying I'm calling dr Malva.. Tyler's pediatrician. we are gonna bring Tyler to her!...I walked fast to the car & remember screaming & crying saying to Walter Something ain't right! I was having a breakdown....Walter was on the phone with the doctor...she could hear me.. We begged that we had to see her....she yelled drive to Long Island Jewish hospital & do not leave until they help us & she would meet us there!... So that's what we did... I felt it was the longest ride I sat next to Tyler he looked perfect... No sign of distress... We get there I go in the emergency room and explain everything to them.. The nurse hooked him up to check his breathing..& hit cold blue sign ! his heart rate was at 50..... 15 doctors ran in the room to work on him....I fell to the floor...what's happening!!!!!!! I screamed!!!!!! Walter's in tears & they say to us he has to go up to neonatal intensive care unit(nicu)..he is not good...... Oh my god we prayed & cried....they took my poor baby away... He had to be intubated & it didn't look good.....over the next couple of minutes they asked us 100 questions and we didn't understand...he was in a coma now & the other hospital said he was sleepy!!!! If we were to take Tyler home that day he would not be here!..the doctor told us if we had waited another 15 more minutes he would be gone.. Well they ran all types of tests..I couldn't see him. We thought the worst..our world was in a blurr.... Our family came for comfort & we just waited....... Finally we get to see him....it was heartbreaking...tubes everywhere he looked lifeless he had central lines every where.. We completely broke down... & we still didn't have a reason. a cause why this happened....so many specialists running tests.. Asking questions...lumbar test came back negative & all the other tests negative. We felt hopeless.. Tyler was fighting for his life...me & Walter had breakdowns but we held it together! We had the chief doctor of the hospital sit us down and talk to us.he said he needed more time for more testing but didn't wanna wait..he called in a genetic doctor to talk to us... They wanted to start treatment right away...they thought Tyler had a disorder called Nkh!& how they wanted to start the meds even though it was not confirmed... We agreed..we wanted our baby to get better...anything that could help....that was his 5th day of life... so they started treatment!.. The doctor said it was a terrible disease & for us to hope for the best, it's in gods hands now.......Tyler was on the vent for about a week & a half....I asked if he will wake up,cry ,open his eyes...he said yes..we just have to wait....I prayed to my dad & grandma to help watch over him ,help him:a miracle!( we had to check in the Ronald McDonald house right next door to the hospital & that's where we lived for 3 months...finally we got an answer.... Tyler did have Nkh.!.it's a rare metabolic disease & it's a terminal illness..No cure! It's so unfortunate.. Non ketotic Hyperglycemia this is what our poor son has to live with... It affects 1 child in every 60,000 born. Not all children are equally affected & we hope to raise awareness & find a cure for this disease.. I see a fight in Tyler.he is our lion... He spent 3 months in the nicu & he fought for his life!! We as his parents and advocates knew something was wrong & didn't stop.. Thank god we got Tyler help when we did & we continue everyday to fight!!! He will be 1 on 8/18 :) it's been a long road & it's not easy!he takes too many medications & he is delayed but there is no giving up! Tyler is here & it's a blessing as much as a challenge! we have amazing strength & always looking for a better day with less seizures .watching Tyler accomplish something a doctor said he would never do!A doctor said to us Tyler is like a rare butterfly u see them but they don't stay around for long.. So enjoy your time with him...we think different.Tyler is here & he has a purpose here.. Life is not promised to anyone...but we have to spread the word all around the world about this disease & look for help to cure it.....please share Tyler's story... Alone we are rare. Together we are Strong! Nkh crusaders! Look it up! Pass it along!! On1y one doctor in Colorado is doing research but he needs more funds! We need your help!! Tyler has had so many hospital stays over this past year & one of them we almost lost him he was admitted for 2 months in the picu & he was on a vent for 2 & 1/2 weeks it was a nightmare he was at his worst! At one point the doctors said he was afraid he didn't know if Tyler was gonna make it. He had so many different types of ports in his neck,legs etc...he even had to get a broviac put in :( we had family & friends praying all over the world & I must say the prayers were so strong they helped Tyler get better & he made it home :) we thank god & with his power ,strength anything is possible! Tyler has a long road ahead but we have faith...please keep our family in your thoughts..but most of all Tyler in your prayers! Thank u & share Tyler's story we must find a cure for Nkh...Tomorrow is Tyler's 1st birthday! We are honored to get to celebrate this day..Tyler truly fought for his life & we are blessed .celebrate his life!!

This is Tyler's story, this little boy and his family have captured a piece of my heart.
Tyler's fight for Life

My name is Danielle & I would love to share my son Tyler's story with you.....
We are a happy family we have Michael who is 18, Bryan who is 14,Daniel who is 2 & Tyler when I was pregnant with Tyler I had no issues the only thing that came up in a sonogram was that Tyler had club feet I thought my poor baby how could this be? The doctors said it was nothing he will be fitted for casting & wear special shoes & it could be corrected no big deal...well I cryed they had me also do a amniocentesis to test for further issues..I was so scarred but I did it anyway..waiting on those results was so scary.....but they came back fine! Nothing was wrong just club feet.......when I went into labor 8/18/2012 it was quick just like my other children....the only thing was when Tyler came out he didn't cry!!! I remember screaming why isn't he crying..... I could see him moving around & then finally he let out a cry I could never forget it seemed weak but it was music to my ears!!! We cried with joy & the nurse placed Tyler in my arms he was perfect! We looked at each other & fell in love! He was 6 pounds 6 ounces & was born at 1:32am he was adorable he had reddish hair & we couldn't wait for his brothers to meet him & the rest of our family..he took his bottles & we had lots of visitors he seemed sleepy but was on & off a wake...one thing I kept saying was he ain't crying? The nurse said oh yes he was in the nursery when we washed him up...but I didn't hear him...the next morning one nurse said to me that his eyes rolled back & they called a specialist to look at him...,I cried & decided to call my doctor & she came to look at him..he seemed fine..just sleepy but everyone in the hospital said he was good to go home...due to his club feet my pediatrician which was mine when I was born & she is Tyler's now so she pushed for an appt the next morning. We got lucky she is the best doctor!! & a pushy one!! Ok so we went home yay!!!! Got home around 12;00 settled in & Tyler still wasn't crying.... He would take his bottles & pee,poop....something just wasn't right!!!!!! My 18 year old son said mom Tyler's a quiet baby.! well I called dr Malva.. & explained everything...... She said make him uncomfortable & we did. still no crying! she told us Take him to emergency room She will call ahead to let them know we were coming..... So we did...we got there & they took some blood & he didn't cry!! Ummm I cried... Something ain't right..the doctor came in examined him & said he is just fine...he is just a little sleepy...u are lucky enjoy him!!!
Tyler is taking his bottle & said you can go home... That night I didn't sleep...I had to feed him he still wouldn't wake up . Thank god we had that appt for his club feet early in the morning..still Tyler was in a deep sleep coma like....I just didn't understand but me & his dad knew something was wrong!!! We got to the appt around 7 am... & at this point we are scared this ain't normal... We see the orthopedic & we begged them!!!!!!!!!!! We told them that we went to the emergency room last night he ain't waking up they sent us home...& he is still the same not crying!! It seemed like he was lifeless..... Well they listened checked his color,breathing & said the same thing .he is sleepy but enjoy him.. Some babies are just tired..... What!!! Babies move when u put water on them..Tyler didn't even move... It was so devastating.... no one believed us. They set up an appt in NYC to have his feet casted the next day...Well this is the 2nd time being turned away .that Tyler is a sleepy baby.....we left the hospital feeling so hopeless I remember Walter saying I'm calling dr Malva.. Tyler's pediatrician. we are gonna bring Tyler to her!...I walked fast to the car & remember screaming & crying saying to Walter Something ain't right! I was having a breakdown....Walter was on the phone with the doctor...she could hear me.. We begged that we had to see her....she yelled drive to Long Island Jewish hospital & do not leave until they help us & she would meet us there!... So that's what we did... I felt it was the longest ride I sat next to Tyler he looked perfect... No sign of distress... We get there I go in the emergency room and explain everything to them.. The nurse hooked him up to check his breathing..& hit cold blue sign ! his heart rate was at 50..... 15 doctors ran in the room to work on him....I fell to the floor...what's happening!!!!!!! I screamed!!!!!! Walter's in tears & they say to us he has to go up to neonatal intensive care unit(nicu)..he is not good...... Oh my god we prayed & cried....they took my poor baby away... He had to be intubated & it didn't look good.....over the next couple of minutes they asked us 100 questions and we didn't understand...he was in a coma now & the other hospital said he was sleepy!!!! If we were to take Tyler home that day he would not be here!..the doctor told us if we had waited another 15 more minutes he would be gone.. Well they ran all types of tests..I couldn't see him. We thought the worst..our world was in a blurr.... Our family came for comfort & we just waited....... Finally we get to see him....it was heartbreaking...tubes everywhere he looked lifeless he had central lines every where.. We completely broke down... & we still didn't have a reason. a cause why this happened....so many specialists running tests.. Asking questions...lumbar test came back negative & all the other tests negative. We felt hopeless.. Tyler was fighting for his life...me & Walter had breakdowns but we held it together! We had the chief doctor of the hospital sit us down and talk to us.he said he needed more time for more testing but didn't wanna wait..he called in a genetic doctor to talk to us... They wanted to start treatment right away...they thought Tyler had a disorder called Nkh!& how they wanted to start the meds even though it was not confirmed... We agreed..we wanted our baby to get better...anything that could help....that was his 5th day of life... so they started treatment!.. The doctor said it was a terrible disease & for us to hope for the best, it's in gods hands now.......Tyler was on the vent for about a week & a half....I asked if he will wake up,cry ,open his eyes...he said yes..we just have to wait....I prayed to my dad & grandma to help watch over him ,help him:a miracle!( we had to check in the Ronald McDonald house right next door to the hospital & that's where we lived for 3 months...finally we got an answer.... Tyler did have Nkh.!.it's a rare metabolic disease & it's a terminal illness..No cure! It's so unfortunate.. Non ketotic Hyperglycemia this is what our poor son has to live with... It affects 1 child in every 60,000 born. Not all children are equally affected & we hope to raise awareness & find a cure for this disease.. I see a fight in Tyler.he is our lion... He spent 3 months in the nicu & he fought for his life!! We as his parents and advocates knew something was wrong & didn't stop.. Thank god we got Tyler help when we did & we continue everyday to fight!!! He will be 1 on 8/18 it's been a long road & it's not easy!he takes too many medications & he is delayed but there is no giving up! Tyler is here & it's a blessing as much as a challenge! we have amazing strength & always looking for a better day with less seizures .watching Tyler accomplish something a doctor said he would never do!A doctor said to us Tyler is like a rare butterfly u see them but they don't stay around for long.. So enjoy your time with him...we think different.Tyler is here & he has a purpose here.. Life is not promised to anyone...but we have to spread the word all around the world about this disease & look for help to cure it.....please share Tyler's story... Alone we are rare. Together we are Strong! Nkh crusaders! Look it up! Pass it along!! On1y one doctor in Colorado is doing research but he needs more funds! We need your help!! Tyler has had so many hospital stays over this past year & one of them we almost lost him he was admitted for 2 months in the picu & he was on a vent for 2 & 1/2 weeks it was a nightmare he was at his worst! At one point the doctors said he was afraid he didn't know if Tyler was gonna make it. He had so many different types of ports in his neck,legs etc...he even had to get a broviac put in we had family & friends praying all over the world & I must say the prayers were so strong they helped Tyler get better & he made it home we thank god & with his power ,strength anything is possible! Tyler has a long road ahead but we have faith...please keep our family in your thoughts..but most of all Tyler in your prayers! Thank u & share Tyler's story we must find a cure for Nkh...Tomorrow is Tyler's 1st birthday! We are honored to get to celebrate this day..Tyler truly fought for his life & we are blessed .celebrate his life!!

EVAN

Evan was born 3/29/2005. He is my first child and I had a completely normal pregnancy. When I went into labor he got stuck and I had an emergency C-section. He was in a coma for 5 days and it took them about 1 1/2 weeks to diagnose him with. NKH.

We were told he would live less than a year and he turned 8 this year!! It is impossible to put into words what you go through when you hear that your child is not well, that his life is going to be short, that all that you know has changed- He has the severe form of NKH. He is unable to walk, or talk, but he smiles and knows me and his father and loves his little sister! We take him every where and try to expose him to as many things as we are able. We pray every day for a better life and more information for him and all the children that have NKH.

JACK

We will continue to share our stories, spread awareness. I have the had the honor to meet many of our NKH families and their love, strength is amazing. Our children are amazing. Please read about Jack
The wee Scottish boy with NKH

On t...he 16th of March 2010 our beautiful boy Jack was born weighing 8lb 12. We were simply in awe at this amazing little boy who was ours! However, it soon became apparent that something wasn’t quite right as Jack had barely opened his eyes and not cried at all.

He was exactly one week old when we were given his diagnosis of non-ketotic hyperglycinemia and told that he would suffer intractable seizures, severe brain damage and most likely never breathe on his own. Jack clearly has other plans as he is now 3 years old and about to start kindergarten at a special school.

Jack is severely affected, he cannot hold his head or sit unaided, he suffers from daily seizures, is tube-fed, needs physical therapy and is much more susceptible to infections so we don't like to think too far ahead but our thoughts about Jack are the same as those first few minutes of his life – we are in awe of our little boy, his life is a daily battle and he inspires everything we do.

NKH is such a devastating condition, with only one doctor in the world researching it. This needs to change! We need to raise awareness of NKH, for better treatment and hopefully one day a cure

CLOVER AND DANIKA

My name is Jennifer Bates and this is the story of clover dawn virginia wilson may 16,2002- june 12,2002 and danika autumn renee wilson july 26,2003- july 28,2003

ok so where to start well i guess i should start at the beginning. I found out i was pregnant when i was 18 august of 2001. i was a little scared because i wasnt married and was kinda young, but so excited because all i ever wanted in life was to be a mom. I had my babies name picked out from the time i was in 6th grade. I had a completly normal pregnancy no problems it was acctually very nice being pregnant i enjoyed every min of it. My boyfriend and i ( the babies dad) got married in april of 2002 and May 16,2002 i was induced. I gave birth to a beautiful 7lbs. 9oz baby girl. and the drs said she was perfectly healthy. we named her Clover Dawn Virginia Wilson. i took her home the next day and she seemed fine to me but what did i know about babies and how they were suppose to be right after birth everyone told me she was fine that babies were groggy after birth. she never cried or woke up or moved she just layed there like a rag doll. so on may 19 we took her to the Emergency room and they decided she was jondis and dehydrated, and they decided to run blood work to make sure there were no infections. Nothing changed she never woke up or cried or moved just layed there. after 2 days her pediatrition decided she didnt know what else to do so she had her life flown to Salt lake city utah to the University of Utah. With in about an hour of being at the Uof U they had a diagonsis. they tried to tell me but i didnt understand so they set up a meeting with the drs and all my family and they explained it all and asked my husband and i all these questions, one being " are you and your husband related in anyway" i about fell on the floor, not only had i just been told that my first born was most likely gonna die and there was nothing they could do, but by the way did you marry your brother? My little girl had IVs in both her arms, her head and a feeding tube down her nose and a ventalator helping her breath. I was 19 and didnt know what was going on and no one could tell me anything about any of it all i got was its NKH and there is no cure only experimental treatment. they kept asking what i wanted to do and all these questions that i didnt have answers to. Thank god for my mom who even though she was horrible on computers she started doing research and found out as much as we could about NKH. which wasnt much. we choose to go ahead with the experimental treatment which consisted of dextramothorphine, sodiem benzoaite, and something else that was supose to replenish all the good stuff that the other meds took away. ( not sure about spelling) At this point i hadnt seen my baby with her eyes open since 2 sec after birth, and i had never heard her cry except the few sounds she made at birth. It was horrible going to the nicu everyday where all these moms and dads where looking at there premiture babies and watching them grow and reach milestones that would lead to them going home and i was there with my completely healthy looking baby that i didnt know if she was ever gonna leave that room. 10 days old she responded to the meds and woke up and pulled the ventelator out and i got to see her open her eyes and she cried for the first time, and she started to eat from a bottle, I thought oh thank God hes gonna let me keep her hes not ready to take her yet. she started to do better and better and the drs let us take her home. those days with her home were so amazing i loved every min of it and i didnt even mind the meds and the drs visits we would have to do every two weeks. she was ok and doing so good. the fairy tale didnt last we started to notice that she was harder to get her to respond to the bottle and we noticed the seizures again. A few times she stopped breathing, but when we picked her up she would start agian. so we made another trip to the ER. she stopped breathing and i couldnt get the nurses to get in the room to help her. i picked her up and she started breath again. then the drs told us they had talked to the U of U and there was nothing more they could do for her she was already recieving the highest dose of meds for her weight. so all they could do was make her comfortable. I didnt want her to die in the hospital so i set up for a nurse to come to my moms house until the time came. she held on for two more days of everyone whatching her and expecting it to happen any momment. then on the morning of june 12 2002 at about 930 we knew it was close we called everyone to the house and my entire family was with her when God called her home she took this last little breath like a sigh of relief and she was gone.

My entire life was changed in that little momment, me the person who wanted to have 10 kids couldnt ever look at a child anymore. My husband and i barely looked at each other and he rarely came home. when he was home we were fighting. so we seperated, we still tried to work things out and during this to my extreme horror i got pregnant again. I found a dr at the U of U since they already knew the situation, when i was about 12 weeks they sent me to Denver for the CVS test , but it was so uncommon that no one knew how big a sample they needed so they didnt take enough and by the time they realized it i was past the open window. i continued with the pregnancy all on faith thinking that God for sure wouldnt take two children from me. At about 30 weeks my blood pressure spiked and i was put on bed rest for the rest of the pregnancy. At 38weeks went in for my check up and i was at a 4 and since i had to travel so far they decided to induce. July 26, 2003 my second daughter was born 6lbs 10oz we named her Danika Autumn Renee Wilson. I knew with in about 2 hours that she was sick, no one would listen to me they said give it time she is fine. finally my dr came in and i told her shes sick please tell them to test her. finally they tested her and sure enough her levels were way higher then my first daughters. Right away i told them start her on the meds, because they were suppose to have them on hand and ready for her just in case, they didnt. I got dirty looks from the nurses and comment about how i should get my tubes tied so i dont have anymore babies that are just gonna die. I was only 20 years old. I asked my dr if she would tie my tubes becasue i didnt want to have people look at me like i was someone who just killed my own child. she said if that was what i wanted she would do it but i needed to take some time and make sure. my little girl died in the night and they put a vent on her when i came in the next morning I lost it she was a dnr and they were not suppose to keep her alive. they removed the vent and put us in a room to be with her while she passed but she didnt she kept fighting she started breathing a better and her heart rate went back to normal and her color came back so i told the drs to start the meds cause she was a fighter, even after all that the meds still werent there it took them 10 hours to get the meds in her system she died an hour after they gave them to her. July 28,2003 my second daughter was called to be with god and again he had ripped my life apart. After that it was over i couldnt do any of it anymore. i couldnt continue to live my life the way i was. that is what i got from my girls passing that i needed to be better. i needed to make a change and it was going to be hard, but i had to do it. How do you have a relationship with someone you cant look at any more and you cant talk to and you sure cant have kids with. he felt the same his escape was into drugs and drinking and i was left to deal with the death of 2 children alone. so i took a huge step and filed for divorce. still to this day my ex and i cant speek to each other let alone talk to one another and its been 8 years since the divorce.

But that is not where my story ends without the death of my little angels which dont get me wrong i would give almost anything to have them back, i would not be where i am today. i met my wonderful Husband in 2004 and we have two healthy and beautiful daughters Gabryella just turned 5 and Rikki Lynn is 16 months. i am so greatful for them and i enjoy every min i get with them, even when they are being crazy and wild it is so worth every second. I am so blessed to have them. But i miss my other 2 and sometime i hate god for taking them but i truely believe that everything happens for a reason and my angels where placed in my life to teach me that i need to change my life and that there was something waiting for me. there short life also brought so many people into mine and my familys lifes that werent there before, sometimes im not sure about the reason for it all my. there has to be some purpose to the whole thing and even though i have lost two children i have to alway look that there is still life in me and if i gave up then it was pointless for them to have been born. Everyone alway askes me how on earth i made it through this and am not dead myself or crazy. I just tell them that the pain never goes away or gets any easier I have and will always feel like there is a brick forever pressing on my chest. But you make a choice either you lay down next to them and die or you choose to live. From the beginning i just took one sec at a time telling myself ok get out of bed everyday and to every few min to take a breath and that its ok to cry and its ok to talk about them. i keep them forever with me and my 5 year old knows about them and so will my 17 mon old when she is old enough.

My life has been forever changed by the short lives of my two angels. As have the lives of many others because of them. I do not regret having them and i would do it again in a heartbeat they taught me to be a better person. I just wish what every parent of family member or even friend of a child affected by NKH wishes... for a cure.

I so wish that NKH crusaders was around when i lost my girls, but am very greatful that is around now. thank you for all that you are doing i hope that i can now become part of this wonderful organization

Eric

Eric was born March 14, 1999, a beautiful healthy 9 lb. 5 oz. boy. He had difficulty with nursing from the beginning and even with supplemental bottles he was diagnosed as failure to thrive. A high palate and curled tongue were apparently the cause of the problem. Frequent bottle feedings, new trials of formula and a variety of bottles and nipples became routine in our home. His doctor felt that he was just a difficult child. But a mother's intuition is strong and it was telling me that something just wasn't right. Eric's development was slow and he seemed to keep his hands and feet to himself, not wanting to touch or be touched. He cried constantly and was often inconsolable. A sick visit to the doctor at 14 months resulted in a rescue call and began our journey into frequent hospitalizations. There were many specialists who poked, prodded and asked a million questions but still no answers. Early intervention began and Eric quickly learned to sit, crawl and then walk by 22 months. But with each illness came severe twitching, loss of muscle control, lethargy and weeks of setbacks.

After an extended hospital stay at age 3, Eric had his first grand-mal seizure during a follow up to the neurologist. She became instrumental in having him transported to Children's Hospital Boston for further testing. It took over 6 months before one doctor spoke of a very rare metabolic disorder. Eric didn't fit the normal profile but a trial of medication was decided on to see if any improvements would be seen. Within 3 weeks, we began to see positive results. Eric was more alert, talking clearer and smiling more. It took another 6 months or so for the formal diagnosis of atypical non-ketotic hyperglycinemia or NKH. An amino acid called glycine isn't able to break down properly causing excessive levels to build up in the brain. Very little is known about this disorder and Eric is the only child in Rhode Island living with NKH. Since diagnosis, there have been two more children found to have the atypical form of the disorder in Massachusetts. Over the years, Eric has grown stronger and can now handle illness without hospitalization. He has been seizure-free for over 3 years now. Despite significant developmental and communication delays, Eric has become very social and active in the community. He enjoys watching and cheering on the adults playing softball at Clegg Field, riding his bicycle and playing kickball at every opportunity. He actively participates in Challengers baseball and Special Olympics.

Jayden Scott

My name is Kelly Spell on November 29, 2010 I gave birth to a beautiful baby boy named Jayden Scott Spell. Jayden was born 4 wks early & weighed 8 pounds 6 ounces! Jayden was delivered by emergency c section b/c from 32 wks until the day of delivery all of the ultrasounds & stress testthey performed on him showed signs of stress the one on the 29th being the worst convincing the doctors it was time to deliver. Other than the stress test & ultrasounds the only physical problems I worried about during my pregnancy was how Jayden was a very lazy baby & he had hiccups all day everyday. The hiccups concerned me to the point I researched them but all the material I read said hiccups are a sign of a healthy baby & my doctors did not seem concerned either. The day of the delivery was a day of stress worrying over Jayden's well being. Jason & I both cried a sigh of relief when Jayden was finally delivered he came out screaming & crying a wonderful sound to our ears! Finally, Jason & I had our son & Kaitlyn had her little brother! Jayden was quickly taken to the nursery for assessment he hada few problems with his glucose levels but drank down two bottles right away. It would be another 5 hours before I could see him again the nurses needed to monitor his glucose & breathing. What seemed like forever the moment I had been waiting for finally came & my baby was wheeled into my room I can still see that moment like it was yesterday my baby was finally in my arms. Life could not get any better than this! Jayden appeared to be healthy other than a few drops in his sugar & a few problems breathing but the nursing team assured us it was due to him being delivered early.

Day 3, Jayden was having problems feeding that seemed to only be getting worse. He would only take an ounce at a time & it would take me around 45 min to get the ounce in him. He also was not crying like he had the previous days & he seemed to be having shivers which made me think he was cold. At one time during the day I noticed his eyes appeared to be "floaty" which I told myself newborns they do weird things but a part of me knew something was wrong. I laid Jayden on the bed & stripped him down wiping him off with baby wipes to try to make him wake up all he would do was squirm. Again, I just thought I was paranoid b/c our daughter would never cry she was a perfect baby so was Jayden. Shortly after the nurses came to get Jayden for his circumcision I was told he would return shortly but a couple of hours passed. Jayden was brought back to my room by a Nurse Practitioner & a Neonatologist they informed me Jayden did not cry during his procedure & they were concerned with his low tone. The doctor started asking questions about if we had a history of early losses which threw me into an emotional overdrive. He assured me he felt like Jayden was just a laid back baby & all would be fine they would keep him monitored. That night when I changed Jayden's diaper I noticed he was experiencing pain from the procedure he would shake & grab at the bandages but never would cry minutes later the nurses came for the nighttime assessments which resulted in Jayden being admitted to the NICU for monitoring. An hour after being in the NICU Jayden stopped breathing. By 5 am day 4 Jayden was having seizures & was placed on life support. The same Neonatologist came in to see us told us he felt like Jayden had a muscle disorder where his muscles do not work & his body shuts down & he was going to die. He told us this without running any test. He also told us this with no emotion on his face or in his voice which did not settle well with me. After I pulled myself off ofthe floor I told him I wanted my baby transferred to Duke Children's Hospital & he did not need to touch my baby he had no clue what was wrong with him. How could a baby have a muscle disorder when he was moving fine the day before?? In all honesty no the doctor did not know what was wrong with Jayden & he never really tried to know. By 12 pm Duke Life Flight arrived to pick up our sweet baby as he fought for his life.

Arriving at Duke Jayden was in critical condition & they almostlost him on the transfer over. The first day at Duke was a terrible day. Jayden was not breathing well with the vent, his temps kept dropping as well as his heart rate & Jayden was in a coma. Day 9 after meeting with with several teams of doctors & several procedures/test with no improvement in Jayden's condition they finally had a diagnosis. The diagnosis was NKH Non-Ketotic Hyperglycinemia & his was very severe. They told us our baby would not live & we were encouraged to offer comfort measures. They explained to us that NKH is a very rare disease & terminal. Most children die within the first few weeks of life, they have uncontrolled seizures, severe brain damage, developmental delays along with many other problems. They also told us at this point Jayden was having non stop seizure activity & had been since birth. The hiccups that continued once he was born were seizures which also meant the ones he had in utero were as well. Jayden was the 3rd patient Duke had ever treated with NKH so they consulted with Dr. Van Hove & Dr. Ada Hamosh who also recommended comfort measures. I refused to hear what they were saying this diagnoses seemed insane! After storming out of the conference room I did the only thing I knew to do & that was to pray. My sister called our Pediatrician (family friend) she left work & was at the hospital within hours. She requested the spinal be repeated on Jayden to recheck his levels, called other hospitals & talked to many doctors who all recommended the same...comfort measures & none of the hospitals would transfer our Jayden to their care. Our Pediatrician still did not give up hope & she researched until the repeat spinal results were in. Jayden's levels had increased she then talked to me as a mother instead of as a doctor & said she agreed with all the medical teams. Still....this was my baby & I could not give up hope!

We had thousands praying for Jayden & we knew if it was in God's will he would be healed with or without the help of the doctors. We prayed & we prayed...I started praying God would tell us what we needed to do. On Wed, Dec 8th Jayden took a turn for the worst. He started turning blue, heart rate was againdropping, he was floppy & the vent no longer seemed to offer him much comfort. He was showing signs of pain & the nurse told us he was falling fast. We knew this was God & Jayden's way of telling us it was time to let go. We stayed by his bed all night. His big sister helped give him a bath & made molds of his feet/hands. We sang to Jayden, told him a million "I Love You's" & we just held onto him for dear life praying for a miracle. The morning of Dec. 9th we were surrounded by family & friends in a little room the hospital provided for us for our final moments with Jayden this room seemed to grow to make room for all who wanted to come in...we could feel God's love in that room. Kaitlyn held her little brother as he was baptized, we took pictures, took turns holding him..kissing him. I often wondered that day how I would ever let him go how we would ever say ok it is time to remove the vent but again our son helped us with that decision. Jayden became so critical his nurse had to bag him b/c the vent was not supplying him with enough oxygen. She stabilized him & we quickly changed him into his going home outfit. My husband held Jayden as they removed the vent, Jason broke down, I laid my head on Jayden praying while his sister held his hand. I found a strength in me I did not know I had as I picked Jayden up from his Daddy's arms to hold my angel as he left this world. I kissed him, sang "Jesus Loves Me", held him close to my chest all the things I had waited so long to do. As I cradled my dying baby in my arms just minutes before he took his last breath Jayden Scott Spell smiled not once but twice & our family /friends were there to see this. What a blessing Jayden gave us with those little smiles he knew his Mommy needed that to keep from dying myself. At that moment I know my baby saw Jesus sweet face as I held him in my arms!

December 9th was the day my heart broke into a million pieces. Our lives have been forever changed & there will always be a hole in our family that will never be filled here on Earth. We were so blessed to have our little angel for as long as we did but my heart aches to see him again, hold him, kiss that sweet face..I will forever be broken. I pray every night Jayden knows the love we have for him & the only thing that keeps me going is knowing he will one day be waiting for me at the gates of HEAVEN! I share this story in hopes to spread NKH Awareness so one day no other family knows the heart break my family does. Our Jayden may no longer be fighting this terrible battle but his parents are & we will forever educate others on this terrible illness until we join Jayden in Heaven. God Bless us all & may we one day find a treatment & cure for NKH.

Meet Cheyanne

My daughter Cheyanne was diagnosed with NKH. She was showing signs of seizures at 4 days old and was held at our local hospital for 11 days in the NICU. Our local hospital exhausted all testing they could do since there was no pediatric neurologist or metabolic team at our local hospital. She was then transported to Children's Hospital of Philadelphia (Chop) where she stayed for about 33 days. There the diagnosis was made. We were told she might only live to see 1 year old. But, we were told based on her drinking from a bottle from day one, No oxygen, and her glycine level's only being mildly elevated that Cheyanne might beat the odds...

Cheyanne came home and then the seizures got out of control. She was having 50-60 a day. They would break your heart! We switched her seizure medicine from Phenobarbital to Lamictal and at 7 months old she had the worst seizure ever. We took her to Chop where an EEG was done right away and the results were showing like nothing ever happened? Her neurologist said her EEG almost looked as good as a normal child. Since then she has not had a seizure. On October 23, she will be 7 years old. She sits with support and eats table food. She attends school in a wheelchair and is in the Life Skills Class. She wears braces on her legs and has a standing machine at home and a gait trainer. She attends our Easter Seals where she's under an orthopedic doctor's care. In addition to appointments at CHOP we also go to Penn State Children's Hosp in Hershey, PA where she's under the care of an ENT. Her biggest struggle was ear infections and strep throat. She's had tubes placed in her ears this past February. The best surgery she's ever had. She has not been sick for 6 months. That is a record for her. We're very proud of Cheyanne and everything she has overcome. She's our miracle baby. I have also posted a picture of Cheyanne in her big girl bed that she got from Make-A-Wish.

Larry, Billie and Cheyanne Stoudt