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Love Never Quits: A Story of One Mother's Love and the Quest for a Cure for GM1-Gangliosidosis

#1 · February 27, 2023, 4:56 pm

Quote from Jessa VonFeldt on February 27, 2023, 4:56 pm
Love Never Quits: A Story of One Mother's Love and the Quest for a Cure for GM1-Gangliosidosis

Written by Rebecca Miller BA, LPN Content Writer at InJoy Health Education

February 28 is Rare Disease Awareness Day. This blog is dedicated to all parents and families living with GM1-Gangliosidosis. Read her inspiring story and advice for providers and health professionals.

______________________________________________________________

Kylie H. is a Colorado native and Certified Lactation Counselor and Registered Dietician. She and her husband, Kyle H., have been married for 11 years. Two years after they were married, they had their first baby girl, KR. Two years after the birth of KR, they welcomed a second daughter, KG. The girls were born without complication and appeared to be achieving milestones until Kylie noticed that her oldest daughter developed a stutter at age three. Kylie initiated speech therapy, which seemed to help.

Kylie Noticed a Decrease in Motor Skills

Kylie: By age 4, I noticed she struggled with things like zipping her jacket, doing buttons and had some sensory processing issues.      

Kylie knew something was wrong. She spoke to friends, family, teachers, and therapists, and everyone reassured her that KR was fine, just "behind.” Kylie disagreed. When KR started kindergarten, Kylie requested the school do a complete evaluation to determine the cause of her delay. She also sought medical help, but her concerns were brushed off.

KR’s Pediatrician Listened to Kylie & Sought Answers

KR's pediatrician agreed that something was wrong and used her connections to schedule KR with developmental pediatrics and other specialists. Answers eluded Kylie until KR had an MRI.

Kylie: We were told that the MRI did not show anything significant. However, the results stated, "Nonspecific indistinct white matter signal abnormality at the cerebral vertex and posteriorly." 

A second neurologist said the finding "wasn't significant" and provided a "global developmental delay, apraxia of speech, coordination disorder, and anxiety" diagnosis based on the school assessments. However, the MRI finding was significant to her. Terrified, she noticed similar manifestations in her other daughter, KG. She contacted the pediatrician, and she received the referral back to Genetics.

Kylie: It was a combination of KR's evaluation at developmental pediatrics, and that KG had developed a stutter that triggered a referral to see genetics again. Genetics sent us back to  neurology. This time the neurologist listened to our concerns. 

And so, they waited. The two girls were in and out of the hospital for many challenges. The couple had just birthed another daughter, KA, when they received the diagnosis.

Juvenile GM1-gangliosidosis. A fatal condition that affects less than 1,000 people in the US.

What Is GM1-Gangliosidosis?

Also called beta-galactosidase-1 deficiency, this rare disease is a genetic disorder that progressively destroys nerve cells in the brain and spinal cord. It is an autosomal recessive pattern, which means that the copy of the gene is inherited from each parent. For children, GM1 is caused by a mutation in the GLBI gene that leads to cellular death. Kylie was faced with the reality that her daughters would suffer brain damage and slowly lose all their abilities, such as talking, walking, and eating, until they succumb to the disease and die.

There are three classifications of GM1:

Infantile or Type 1

Juvenile or Type 2

Adolescents and adults or Type 3

Kylie's two girls were considered Type 2.

GM1-Type 2 children initially achieve milestones but have delays, even regression.  Some of the symptoms include:

plateau of gross and fine motor development

developmental regression

poor muscle tone (hypotonia)

seizures

visual impairment

intellectual disabilities

A Devastating Diagnosis

Currently, no approved therapies reverse the effects of GM1, only symptom management. Kylie and her husband were shocked. 

Kylie: We were told their life expectancy was 10-15 years, and no treatment or cure existed. We were told to enjoy our time with them just because they'd soon go downhill and be gone.

Kylie and her husband decided to test their new baby to see if she had GM1. Two weeks later, the results returned. She was negative.

The Parents Searched for Support & Became Advocates for Research

Determined to help their girls, the parents connected with the Cure GM1 Foundation for information and support. 

Kylie: The Cure GM1 Foundation explained that the girls had a much longer life expectancy. There was one drug—Meglustat--which had mixed reviews. But there was a clinical trial we could get them into. Our world and views shifted. We had some hope.

It was the United States' only gene therapy trial for juvenile GM1 at the National Institutes of Health. The trial had potential to be either curative or slow the progression. Both girls received doses of the therapy.  Sadly, the clinical trial was not a cure.

Kylie: We are 2 years post gene therapy, and the outcome hasn't been as good as they hoped. The biotech company that funded the trial closed. There are a few other clinical trials in progress, but they only accept Type 1 GM1.

The combination of lack of funding and the rarity of the disease limited the availability of clinical trials. Kylie and her family decided to become advocates for families experiencing GM1 and started fundraising for the Cure GM1 Foundation.

Kylie: We immediately started fundraising for the Cure GM1 Foundation, spreading awareness, and connecting with every specialist we could find. We have raised almost $400,000 for the foundation to date.  

In addition to having support from family and friends, the family found a source of information and empowerment through the Cure GM1 Foundation and Facebook groups.

Kylie: We are connected with the Cure GM1 Foundation and the online community of families whose children also have GM1 who have been incredible to talk with. We can meet almost monthly with a counselor running a group therapy session with these families.

The Parents Made a Powerful Choice to Extend Their Family

With a life expectancy of early teen years to potentially living into their thirties, Kylie made a decision. She didn't want her youngest baby, KA, to grow up without a sibling. The couple elected to do IVF and had the embryo tested for GM1. Baby KP, their 4^th daughter, is now five months old and is a carrier of GM1 but is not affected by it. The new baby brought joy to their family and, with it, hope for the future.  Yet, Kylie found herself experiencing a conflict between the joy of having a new baby and the knowledge that her two oldest girls were afflicted by GM1. Her medical team had recommended counseling but provided no direct referrals.

Kylie: Your entire world falls apart, and you feel like you’ve lost two of your children, yet you have this perfect newborn in front of you to take care of. I can remember just breathing and enjoying the snuggles with all three of them and crying. Enjoying life became a priority. My husband and I started to talk with a counselor. When the girls lost skills, we would experience grief and relearning how to live without those skills lost. We just take one day at a time.

The Determination to Breastfeed

Breastfeeding her newborn was a challenge. Kylie was fortunate to be a Certified Lactation Counselor, and her body produced milk efficiently. She was adept at pumping and maintaining her milk supply, despite the difficulties of having her older girls in and out of the hospital.

Kylie: Breastfeeding has always been something I cherish. I breastfed all of them for over a year. The new baby has been the most difficult because juggling the needs of my three other girls has left me with less time to focus on her.

Kylie continued taking medications for her anxiety and depression but cautions other breastfeeding mothers. Her midwife encouraged her to switch medications but didn’t consider how that would affect the baby and breastfeeding. As a result, Baby KP developed colic and digestive problems. Kylie boldly decided to take herself off her medications out of concern for her new baby.

Kylie: I weaned myself off of all medications altogether. If I could go back, I would not have changed meds until after breastfeeding. KP is doing so much better without the medicines, but I have to work hard to keep myself feeling okay and remind myself not to go down any rabbit holes when I think about KR and KG's future.  

Kylie encourages other breastfeeding moms to advocate for themselves She wants healthcare providers to be more informed about the needs of their patients by looking past the diagnosis and visit needs and looking at the whole patient.

Kylie: I want all healthcare providers to review medications if breastfeeding, advise on what to look for, and what their options if their baby is obviously affected by the mother's medications. I feel like I had to decide to stop taking medications because there was no advice or knowledge provided to me about what I could do. 

Kylie realized that medications would help her the most, but she chose to do what was best for the baby. But, if she feels her mental health is in danger, she will stop breastfeeding and resume her treatment.

Advice for Families and Healthcare Providers       

Kylie has this advice for families who have terminally ill children:

Kylie: Find people who understand what you are going through because, unfortunately, even your close friends and family will not get it.  And a reminder to healthcare providers:  Listen to your patient and their concerns. Read the chart.  Consider the whole patient, especially when prescribing medications. Practice being trauma informed and patient centric. Blowing off a patient’s concerns and dismissing them as being “that parent” cost KR and KG precious time. Slow down. Ask questions like how can I help? We will tell you, trust me. But, if you offer your help, you need to be willing to do so.



Focusing on the Here and Now     

Right now, KR, age 9, has the functioning of a 3-year-old. KG, age 7, is beginning to show regressions. Both girls are at high risk for seizures. The girls do not appear to be in pain, but due to sensory processing issues, this makes it difficult to determine. Despite these hardships, Kylie and her family focus on the here and now. 

Kylie: We have learned to focus on the big picture and let the little things go.  This experience has absolutely changed my life and will continue to teach me the importance of life. It is the little things like watching your daughter practice and practice to put her shoes on until she regains that skill she had lost and is so proud of herself that she dances with joy, and you have to hold back your tears. It is hearing your child say, "I love you" and when you know how hard it is for them to say it and that you won't get to hear them say it much longer.  

Finally, a word about the girls:

KR is very interested in the medical profession and says she wants to be either a dentist or a nurse when she grows up. She's silly and social; she loves being around people.

KG loves anything Disney, dancing, and singing. She loves all the Disney princesses but has recently been excited to re-watch Frozen with Elsa and Anna.

KA is 2 years old and loves to dress up and play pretend with KG (they function at about the same level, so it is pretty cute). She loves to tag along with her sister. 

KP is 5 months old, and we are all still getting to know her. She is a happy baby, and her sisters adore her! 

It’s all about love.

To find more information about GM1, visit https://curegm1.org/

Sources:

https://www.childrenshospital.org/conditions/gm1-gangliosidosis

https://samaritannj.org/hospice-blog-and-events/hospice-palliative-care-blog/what-is-anticipatory-grief/

https://rarediseases.info.nih.gov/diseases/10126/gm1-gangliosidosis-type-2

For materials on supporting and educating around breastfeeding, explore the Understanding Breastfeeding curriculum from InJoy

Rebecca Miller, BA, LPN, is a Content Writer at InJoy. She served as an after-hours hospice nurse from 2016-2022, working with adults and pediatric patients. Rebecca has written for several newspapers, magazines, and online publications. She is the author of Being Max’s Mom, The Whisper and is currently working on her new book, Dead People Stuff.

Love Never Quits: A Story of One Mother's Love and the Quest for a Cure for GM1-Gangliosidosis

Written by Rebecca Miller BA, LPN Content Writer at InJoy Health Education

February 28 is Rare Disease Awareness Day. This blog is dedicated to all parents and families living with GM1-Gangliosidosis. Read her inspiring story and advice for providers and health professionals.

______________________________________________________________

Kylie H. is a Colorado native and Certified Lactation Counselor and Registered Dietician. She and her husband, Kyle H., have been married for 11 years. Two years after they were married, they had their first baby girl, KR. Two years after the birth of KR, they welcomed a second daughter, KG. The girls were born without complication and appeared to be achieving milestones until Kylie noticed that her oldest daughter developed a stutter at age three. Kylie initiated speech therapy, which seemed to help.

Kylie Noticed a Decrease in Motor Skills

Kylie: By age 4, I noticed she struggled with things like zipping her jacket, doing buttons and had some sensory processing issues.      

Kylie knew something was wrong. She spoke to friends, family, teachers, and therapists, and everyone reassured her that KR was fine, just "behind.” Kylie disagreed. When KR started kindergarten, Kylie requested the school do a complete evaluation to determine the cause of her delay. She also sought medical help, but her concerns were brushed off.

KR’s Pediatrician Listened to Kylie & Sought Answers

KR's pediatrician agreed that something was wrong and used her connections to schedule KR with developmental pediatrics and other specialists. Answers eluded Kylie until KR had an MRI.

Kylie: We were told that the MRI did not show anything significant. However, the results stated, "Nonspecific indistinct white matter signal abnormality at the cerebral vertex and posteriorly." 

A second neurologist said the finding "wasn't significant" and provided a "global developmental delay, apraxia of speech, coordination disorder, and anxiety" diagnosis based on the school assessments. However, the MRI finding was significant to her. Terrified, she noticed similar manifestations in her other daughter, KG. She contacted the pediatrician, and she received the referral back to Genetics.

Kylie: It was a combination of KR's evaluation at developmental pediatrics, and that KG had developed a stutter that triggered a referral to see genetics again. Genetics sent us back to neurology. This time the neurologist listened to our concerns. 

And so, they waited. The two girls were in and out of the hospital for many challenges. The couple had just birthed another daughter, KA, when they received the diagnosis.

Juvenile GM1-gangliosidosis. A fatal condition that affects less than 1,000 people in the US.

What Is GM1-Gangliosidosis?

Also called beta-galactosidase-1 deficiency, this rare disease is a genetic disorder that progressively destroys nerve cells in the brain and spinal cord. It is an autosomal recessive pattern, which means that the copy of the gene is inherited from each parent. For children, GM1 is caused by a mutation in the GLBI gene that leads to cellular death. Kylie was faced with the reality that her daughters would suffer brain damage and slowly lose all their abilities, such as talking, walking, and eating, until they succumb to the disease and die.

There are three classifications of GM1:

Infantile or Type 1
Juvenile or Type 2
Adolescents and adults or Type 3

Kylie's two girls were considered Type 2.

GM1-Type 2 children initially achieve milestones but have delays, even regression. Some of the symptoms include:

plateau of gross and fine motor development
developmental regression
poor muscle tone (hypotonia)
seizures
visual impairment
intellectual disabilities

A Devastating Diagnosis

Currently, no approved therapies reverse the effects of GM1, only symptom management. Kylie and her husband were shocked. 

Kylie: We were told their life expectancy was 10-15 years, and no treatment or cure existed. We were told to enjoy our time with them just because they'd soon go downhill and be gone.

Kylie and her husband decided to test their new baby to see if she had GM1. Two weeks later, the results returned. She was negative.

The Parents Searched for Support & Became Advocates for Research

Determined to help their girls, the parents connected with the Cure GM1 Foundation for information and support. 

Kylie: The Cure GM1 Foundation explained that the girls had a much longer life expectancy. There was one drug—Meglustat--which had mixed reviews. But there was a clinical trial we could get them into. Our world and views shifted. We had some hope.

It was the United States' only gene therapy trial for juvenile GM1 at the National Institutes of Health. The trial had potential to be either curative or slow the progression. Both girls received doses of the therapy. Sadly, the clinical trial was not a cure.

Kylie: We are 2 years post gene therapy, and the outcome hasn't been as good as they hoped. The biotech company that funded the trial closed. There are a few other clinical trials in progress, but they only accept Type 1 GM1.

The combination of lack of funding and the rarity of the disease limited the availability of clinical trials. Kylie and her family decided to become advocates for families experiencing GM1 and started fundraising for the Cure GM1 Foundation.

Kylie: We immediately started fundraising for the Cure GM1 Foundation, spreading awareness, and connecting with every specialist we could find. We have raised almost $400,000 for the foundation to date.  

In addition to having support from family and friends, the family found a source of information and empowerment through the Cure GM1 Foundation and Facebook groups.

Kylie: We are connected with the Cure GM1 Foundation and the online community of families whose children also have GM1 who have been incredible to talk with. We can meet almost monthly with a counselor running a group therapy session with these families.

The Parents Made a Powerful Choice to Extend Their Family

With a life expectancy of early teen years to potentially living into their thirties, Kylie made a decision. She didn't want her youngest baby, KA, to grow up without a sibling. The couple elected to do IVF and had the embryo tested for GM1. Baby KP, their 4^th daughter, is now five months old and is a carrier of GM1 but is not affected by it. The new baby brought joy to their family and, with it, hope for the future. Yet, Kylie found herself experiencing a conflict between the joy of having a new baby and the knowledge that her two oldest girls were afflicted by GM1. Her medical team had recommended counseling but provided no direct referrals.

Kylie: Your entire world falls apart, and you feel like you’ve lost two of your children, yet you have this perfect newborn in front of you to take care of. I can remember just breathing and enjoying the snuggles with all three of them and crying. Enjoying life became a priority. My husband and I started to talk with a counselor. When the girls lost skills, we would experience grief and relearning how to live without those skills lost. We just take one day at a time.

The Determination to Breastfeed

Breastfeeding her newborn was a challenge. Kylie was fortunate to be a Certified Lactation Counselor, and her body produced milk efficiently. She was adept at pumping and maintaining her milk supply, despite the difficulties of having her older girls in and out of the hospital.

Kylie: Breastfeeding has always been something I cherish. I breastfed all of them for over a year. The new baby has been the most difficult because juggling the needs of my three other girls has left me with less time to focus on her.

Kylie continued taking medications for her anxiety and depression but cautions other breastfeeding mothers. Her midwife encouraged her to switch medications but didn’t consider how that would affect the baby and breastfeeding. As a result, Baby KP developed colic and digestive problems. Kylie boldly decided to take herself off her medications out of concern for her new baby.

Kylie: I weaned myself off of all medications altogether. If I could go back, I would not have changed meds until after breastfeeding. KP is doing so much better without the medicines, but I have to work hard to keep myself feeling okay and remind myself not to go down any rabbit holes when I think about KR and KG's future.  

Kylie encourages other breastfeeding moms to advocate for themselves She wants healthcare providers to be more informed about the needs of their patients by looking past the diagnosis and visit needs and looking at the whole patient.

Kylie: I want all healthcare providers to review medications if breastfeeding, advise on what to look for, and what their options if their baby is obviously affected by the mother's medications. I feel like I had to decide to stop taking medications because there was no advice or knowledge provided to me about what I could do. 

Kylie realized that medications would help her the most, but she chose to do what was best for the baby. But, if she feels her mental health is in danger, she will stop breastfeeding and resume her treatment.

Advice for Families and Healthcare Providers       

Kylie has this advice for families who have terminally ill children:

Kylie: Find people who understand what you are going through because, unfortunately, even your close friends and family will not get it. And a reminder to healthcare providers: Listen to your patient and their concerns. Read the chart. Consider the whole patient, especially when prescribing medications. Practice being trauma informed and patient centric. Blowing off a patient’s concerns and dismissing them as being “that parent” cost KR and KG precious time. Slow down. Ask questions like how can I help? We will tell you, trust me. But, if you offer your help, you need to be willing to do so.

Focusing on the Here and Now    

Right now, KR, age 9, has the functioning of a 3-year-old. KG, age 7, is beginning to show regressions. Both girls are at high risk for seizures. The girls do not appear to be in pain, but due to sensory processing issues, this makes it difficult to determine. Despite these hardships, Kylie and her family focus on the here and now. 

Kylie: We have learned to focus on the big picture and let the little things go.  This experience has absolutely changed my life and will continue to teach me the importance of life. It is the little things like watching your daughter practice and practice to put her shoes on until she regains that skill she had lost and is so proud of herself that she dances with joy, and you have to hold back your tears. It is hearing your child say, "I love you" and when you know how hard it is for them to say it and that you won't get to hear them say it much longer.  

Finally, a word about the girls:

KR is very interested in the medical profession and says she wants to be either a dentist or a nurse when she grows up. She's silly and social; she loves being around people.

KG loves anything Disney, dancing, and singing. She loves all the Disney princesses but has recently been excited to re-watch Frozen with Elsa and Anna.

KA is 2 years old and loves to dress up and play pretend with KG (they function at about the same level, so it is pretty cute). She loves to tag along with her sister. 

KP is 5 months old, and we are all still getting to know her. She is a happy baby, and her sisters adore her! 

It’s all about love.

To find more information about GM1, visit https://curegm1.org/

Sources:

https://www.childrenshospital.org/conditions/gm1-gangliosidosis

https://samaritannj.org/hospice-blog-and-events/hospice-palliative-care-blog/what-is-anticipatory-grief/

https://rarediseases.info.nih.gov/diseases/10126/gm1-gangliosidosis-type-2

For materials on supporting and educating around breastfeeding, explore the Understanding Breastfeeding curriculum from InJoy

Rebecca Miller, BA, LPN, is a Content Writer at InJoy. She served as an after-hours hospice nurse from 2016-2022, working with adults and pediatric patients. Rebecca has written for several newspapers, magazines, and online publications. She is the author of Being Max’s Mom, The Whisper and is currently working on her new book, Dead People Stuff.