Our financial statistics and goals we met for 2020

Gross                                                                         $19,967

Paid out to Charities / NKH research:                          

          Boler Parseghian center for NKH specific research funding $10,000

          Nora Jane Foundation for NKH match for research funding    $1035

          NKH Families in crisis                                                              $1329               

          Autism speaks foundation                                                            $58 

                                                                                   total            -$12,422                          bal (7545)

Professional fees                                                                                  $410                              (7135)

Maintenance, utility fees                                                                       $953                              (6182)

Postage, shipping                                                                                   $64                              (6118)

Business related travel, establish charity expenses                           $1955                        

                                                                                                                      year end balance ($4163)

        

        Funding project Balance beginning 2021:    $4163 > = Bank savings $2263 / $450 stock / $1450 in sales merchandise inventory


Our Mission

It is our mission to gain funding through events, donations and other fund raising means, in order to provide researchers in the study and treatment of Non-Ketotic Hyperglycinemia the additional funds they need. It is our secondary goal to assist NKH families in crisis or assistance and to educate and bring awareness about NKH.

This website is dedicated to fund raising for research and support for families with children with Non-ketotic Hyperglycinemia. 

 Our mission is to raise funds to continuously finance research for a cure for NKH, non-ketotic hyperglycinemia. This project was set up in hopes of of finding a cure for our daughter, “Jacqueline Kirby”, whom was born with Non-ketotic hyperglycinemia. In light of Covid and it's affects on society as a whole, funding has dwindled. So we actively have fund raisers now by offering products for sale to help raise funding. 

Our greatest donations usually come from individual donors or foundations. We are forever grateful for them.

 We have traveled to the University of Notre Dame to donate for this research and gain information about research and clinical trials. We stay as active as possible on the NKH leadership board and participate with all other organizations that promote the goal of finding a cure for NKH. In the year 2020 alone, we will be have donated over $10,000 towards research at The Boler-Parseghian center for rare diseases at Notre Dame and to the University of Colorado. These Universities continue doing research on this rare genetic disorder along with a handful more but can only continue to do so if their funding is supported.. We have and will continue donating a large percentage of everything we raise to the research funding program that is already in place. We hope that we can make a difference. 

Thank you all for your continued prayers and kindness.#prayersforjackiekirby


It is a long road ahead but together we all can find an answer especially with our continued prayers and communion to do so.

You may mail your tax deductible donations to: 

Jacqueline Kirby NKH Funding Project 

 16638 E Summit Ave Elkton, VA 22827

any questions call the Eddie or Joni  

(540)435-7502

(540)208-8571

Please

Donate directly through the link provided at the top of this page.



Please follow Jackie's story on Facebook and Instagram.

#PrayersForJackieKirby

#NKHcrusaders

#NKHawareness

Our Story

We’ve loved Jackie every minute of our journey and we will never give up on our mission!

This is our story

On Jan 10, 2020 at RMH in Harrisonburg VA, our little girl Jacqueline Emily Kirby was born. We were thrilled to have our new baby girl. The delivery was complicated so we decided a C section would be best because baby girl wasn’t responding well to the pitocin. The C section was complicated too because Jackie was a big girl and mommy, Joni, had to be cut horizontally and vertically. This made it hard on mom from the beginning. Jackie seemed fine to us but sleepy. On the third day of her life the doctors came to us and said something is wrong with her and she is the floppiest baby we’ve ever seen. They said that they didn’t have the knowledge or technology to help her and recommended she go to UVA in Charlottesville Va. We were devastated and caught so off guard. How could this be??? A special ambulance unit for infants was requested for her.

We followed them over and she was admitted. At first UVA was lost as to her condition. We stayed with her everyday. On the fifth day at midnight I was there with Jackie and she stopped breathing. I alerted the nurses and a team came and intubated her and the ventilator started breathing for her. We were crushed once again. At this point a doctor came in and said we believe she has non-ketotic hyperglycinemia which is a genetic disorder with no cure.

She would have seizures until she would one day pass away.

Again our hearts were torn from our chests. A suggestion was that we just pull the ventilator and let her pass away peacefully. We cried non stop but talked about if she were to pass away we should donate her organs to help another child so another family wouldn’t have to suffer like we were. A friend sent me a private message stating that there was a doctor in Colorado that specializes in this disorder. I contacted him immediately and asked his opinion. He asked for an MRI of her brain and it was sent. He was thinking she would not develop either and recommended letting her pass peacefully but then gave us and the doctors advice on how to keep her alive.. Joni and I decided we couldn’t just let her go and that we would leave it in God’s hands. Jackie was started on medications that might help. I read to Jackie every day. Curious George, Zombielina and Snowy bear were just three of the books. I noticed when I read to her she would start breathing above the ventilator, so I continued to read to her night and day. Every time I’d read she’d breathe above the ventilator. After about a week Jackie started breathing above the ventilator on her own. Then while I was reading Zombielina, she opened her eyes for the first time and looked at me. I was amazed and so happy. She had never opened her eyes before. The doctors recommended taking her off the ventilator in a couple days because she was doing so well but ended up doing it the next day. She was still on a feeding tube through her mouth for her feed and medications but doctors decided they wanted to move it to her nose to see if she would try to eat on her own. The next day she was squirming around and ate a 1/4 of her feed on her own. She would look every time you spoke to her and seemed aware of what was going on around her. She began to eat solely on her own after being fed partially through the machine after a few days. Then the doctors removed her feeding tube completely. We stayed at the hospital feeding her throughout the day and night on a three hour schedule. Joni and I took turns on the night feeds. We were trained on how to give her medications in her bottles. The day before Jackie was one month old, we brought her home. She continued on a three hour schedule with Mom and I taking turns with her care and administering her medications. 

      She is a beautiful, bright eyed baby girl that has beat the odds so far. We have prayed for her all along and thank God daily for this little miracle.I continue to ask for prayers for her and her undetermined future. She has us and a community that loves her very much. We continue to work with her daily with water exercises and other muscle improvement techniques. Jackie is now nearing 11 months old. She continues to beat the odds. She remains on a regimen of meds daily and continues to have severe seizures which we continue to try to get under control. Please continue to pray for her and donate. you can also buy our Merchandise so that soon gene therapy will be available to cure her and other children with NKH.

About Non-Ketotic Hyperglycinemia


Glycine Encephalopathy

NKH

General Discussion

Non-ketotic hyperglycinemia (NKH) is a rare, genetic, metabolic disorder caused by a defect in the enzyme system that breaks down the amino acid glycine, resulting in an accumulation of glycine in the body's tissues and fluids. There is a classical form of NKH and a variant form of NKH. The classical form is then further divided into severe disorder or an attenuated form (mild form).

Signs & Symptoms

The severe classic form of NKH typically presents in the first week of life with low muscle tone, lethargy, seizures, coma, and apnea requiring ventilator support. The ventilator is typically needed for a period of 10-20 days before the apnea resolves. A portion of individuals with severe classical NKH die during the neonatal period, often due to withdrawal of intensive care supports. All children with severe classical NKH who survive the neonatal period have severe developmental delay. Most individuals do not reach milestones past those reached by the typical 6-week-old infant. Seizures gradually worsen and can be difficult to control. Feeding difficulties and orthopedic problems can occur. Airway maintenance becomes poor over time due to low muscle tone, and is often the cause of death.

Individuals with attenuated classic NKH can present in the neonatal period or later in infancy. Presentation in the neonatal period resembles that of severe classic NKH. Those who present in infancy can have low muscle tone, lethargy, and seizures. Individuals with attenuated classic NKH have variable developmental progress. Developmental delays can range from mild to profound. They can often walk and achieve various motor skills. They often have hyperactivity and behavioral problems.

The clinical picture of individuals with variant NKH is rapidly evolving. Presentation varies depending upon what gene is mutated and the specific mutation itself. Particular symptoms can include: problems with spasticity or balance, problems with the nerve of the eye (optic neuropathy), problems with the white matter of the brain, heart weakness, increased resistance to blood flow in the lungs, accumulation of acid in the blood, loss of skills that the child had achieved, or seizures. Most children have only some of these problems.

Causes

Classic NKH is caused by genetic variants (mutations) in the genes that encode the components of the glycine cleavage enzyme system. This enzyme system is responsible for breaking down the amino acid glycine in the body. When it is not working properly, glycine accumulates in the body, resulting in the symptoms associated with NKH.

The glycine cleavage enzyme system is composed of 4 proteins, the P-protein encoded by the GLDC gene, the H-protein encoded by the GCSH gene, the T-protein encoded by the AMT gene, and the L-protein. Mutations in GLDC or AMT cause classic NKH. The majority of individuals with classic NKH have mutations within the GLDC gene. No mutations have been identified in the GCSH gene.

Individuals with deficient enzyme activity, but no mutation in GLDC or AMT, have variant NKH. Many genes have been described in variant NKH including LIAS, BOLA3, GLRX5, NFU1, ISCA2, IBA56, LIPT1 and LIPT2.

NKH is inherited in an autosomal recessive inheritance pattern, meaning that an individual must have pathogenic variants in both copies of the causative gene in order to be affected. Individuals with a pathogenic variant in only one copy of the gene are carriers for the disorder, and are not affected themselves, but could potentially have an affected child if their partner is also a carrier. If both parents are carriers for NKH, then there is a 1 in 4 chance, with each pregnancy, of the child being affected with NKH.

Affected Populations

The incidence of NKH is predicted to be approximately 1:76,000. NKH can occur in individuals of any ancestry.

Related Disorders

Symptoms of the following disorders can be similar to those of non-ketotic hyperglycinemia. Comparisons may be useful for a differential diagnosis:

Ketotic hyperglycinemia: propionic acidemia, methlymalonic acidemia, isovalerica acidema and B-ketothiolase deficiency. These patients have elevated glycine due to interference with the glycine cleavage enzyme system, but do not resemble NKH clinically.

Hyperglycinuria: familial iminoglycinuria and benign hyperglycinuria. These patients have elevated glycine in urine.

Disorders of pyridoxal-phosphate, such as pyridoxal-phosphate dependent encephalopathy. These children resemble NKH and can have elevated glycine levels. They lack active vitamin B6 (called pyridoxal-phosphate), which is a necessary compound for the activity of the glycine cleavage enzyme.

Transient NKH: Some children with severe injury to the brain have temporarily elevated glycine levels. They do not have a genetic deficiency in the glycine cleavage enzyme system. Their glycine levels come down spontaneously as they recover from the injury. Hypoxic-ischemic injury is one of the more common reasons for this.

Some children have been identified on newborn screening as having very elevated levels of glycine in blood. They have no symptoms. They do not have a deficiency in the glycine cleavage enzyme activity or have mutations in GLDC or AMT. They remain asymptomatic. The cause for this phenomenon is currently unknown.

Diagnosis

Cerebral spinal fluid (CSF) and plasma glycine levels are used in the diagnosis of NKH. Deficient enzyme activity causes elevated glycine levels in plasma and CSF, and an elevated CSF:plasma glycine ratio. High glycine levels in plasma and urine are not exclusive to NKH. Increased CSF glycine is highly indicative of NKH, however contamination of CSF with blood or serum can cause a false elevation of CSF glycine. CSF glycine is the preferred diagnostic test. Molecular analysis is an excellent confirmatory test. With sequencing and deletion/duplication analysis, 98% of alleles are detected. Brain MRI imaging can also be helpful because there is a specific pattern of changes seen in individuals with NKH.

Prenatal diagnosis is available when familial mutations are known.

Standard Therapies

Treatment

There is no curative treatment for NKH. However, there are treatments that can improve outcomes.

Sodium benzoate is used to reduce serum glycine levels. Benzoate binds to glycine in the body to form hippurate, which is excreted in the urine. This treatment reduces seizures and improves alertness. Plasma glycine levels must be monitored closely to ensure sodium benzoate is at an effective and non-toxic level.

Dextromethorphan is commonly used to reduce seizures and improve alertness. Dextromethorphan binds to NMDA receptors in the brain. These receptors are over-stimulated in individuals with NKH due to increased glycine levels in the brain. Glutamate is the neurotransmitter that predominately binds to these receptors. Dextromethorphan binds to the NMDA receptors, blocking glutamate from binding to the receptor. Ketamine is another NMDA receptor blocker that is also used. In patients with attenuated NKH, use of dextromethorphan can help with attention and chorea, and if treated early together with benzoate, can improve development and seizures.

Seizure management in individuals with severe classic NKH is difficult and usually requires multiple anticonvulsants. Valproate is not recommended for patients with NKH as it inhibits the residual glycine cleavage enzyme activity. Vigabatrin should rarely be used as many children with NKH have had adverse reactions to it.


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