Preimplantation genetic testing for neurofibromatosis type 1:

Ironically, if the parents of the affected prospective parent had opted for preimplantation genetic testing the affected prospective parent would not have been born.

Vernimmen V, Paulussen ADC, Dreesen JCFM, van Golde RJ, Zamani Esteki M, Coonen E, van Buul-van Zwet ML, Homminga I, Derijck AAHA, Brandts L, Stumpel CTRM, de Die-Smulders CEM. Preimplantation genetic testing for Neurofibromatosis type 1: more than 20 years of clinical experience. Eur J Hum Genet. 2023 Aug;31(8):918-924. doi: 10.1038/s41431-023-01404-x. Epub 2023 Jun 19. PMID: 37337089; PMCID: PMC10400537.

Abstract

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder that affects the skin and the nervous system. The condition is completely penetrant with extreme clinical variability, resulting in unpredictable manifestations in affected offspring, complicating reproductive decision-making. One of the reproductive options to prevent the birth of affected offspring is preimplantation genetic testing (PGT). We performed a retrospective review of the medical files of all couples (n = 140) referred to the Dutch PGT expert center with the indication NF1 between January 1997 and January 2020. Of the couples considering PGT, 43 opted out and 15 were not eligible because of failure to identify the underlying genetic defect or unmet criteria for in vitro fertilization (IVF) treatment. The remaining 82 couples proceeded with PGT. Fertility assessment prior to IVF treatment showed a higher percentage of male infertility in males affected with NF1 compared to the partners of affected females. Cardiac evaluations in women with NF1 showed no contraindications for IVF treatment or pregnancy. For 67 couples, 143 PGT cycles were performed. Complications of IVF treatment were not more prevalent in affected females compared to partners of affected males. The transfer of 174 (out of 295) unaffected embryos led to 42 ongoing pregnancies with a pregnancy rate of 24.1% per embryo transfer. There are no documented cases of misdiagnosis following PGT in this cohort. With these results, we aim to provide an overview of PGT for NF1 with regard to success rate and safety, to optimize reproductive counseling and PGT treatment for NF1 patients.

Vernimmen V, De Rycke M, Moutou C, Dreesen J, Blok MJ, van Minkelen R, Lauer-Zillhardt J, Verdyck P, Keymolen K, van Uum C, Homminga I, Brandts L, Stumpel CTRM, Coonen E, Heijligers M, van Zelst-Stams W, Zamani Esteki M, van den Wijngaard A, de Die-Smulders CEM, Paulussen ADC. Preimplantation genetic testing for neurofibromatosis type 1: molecular genetic aspects and impact on reproductive counseling. Hum Reprod. 2026 Feb 1;41(2):285-295. doi: 10.1093/humrep/deaf224. PMID: 41289058; PMCID: PMC12864152.

Abstract

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder that affects the skin and the nervous system. The condition is completely penetrant with extreme clinical variability, resulting in unpredictable manifestations in affected offspring, complicating reproductive decision-making. One of the reproductive options to prevent the birth of affected offspring is preimplantation genetic testing (PGT). We performed a retrospective review of the medical files of all couples (n = 140) referred to the Dutch PGT expert center with the indication NF1 between January 1997 and January 2020. Of the couples considering PGT, 43 opted out and 15 were not eligible because of failure to identify the underlying genetic defect or unmet criteria for in vitro fertilization (IVF) treatment. The remaining 82 couples proceeded with PGT. Fertility assessment prior to IVF treatment showed a higher percentage of male infertility in males affected with NF1 compared to the partners of affected females. Cardiac evaluations in women with NF1 showed no contraindications for IVF treatment or pregnancy. For 67 couples, 143 PGT cycles were performed. Complications of IVF treatment were not more prevalent in affected females compared to partners of affected males. The transfer of 174 (out of 295) unaffected embryos led to 42 ongoing pregnancies with a pregnancy rate of 24.1% per embryo transfer. There are no documented cases of misdiagnosis following PGT in this cohort. With these results, we aim to provide an overview of PGT for NF1 with regard to success rate and safety, to optimize reproductive counseling and PGT treatment for NF1 patients.

Zheng W, Yang C, Yang S, Sun S, Mu M, Rao M, Zu R, Yan J, Ren B, Yang R, Guan Y. Obstetric and neonatal outcomes of pregnancies resulting from preimplantation genetic testing: a systematic review and meta-analysis. Hum Reprod Update. 2021 Oct 18;27(6):989-1012. doi: 10.1093/humupd/dmab027. PMID: 34473268.

Abstract

Background: Preimplantation genetic testing (PGT) includes methods that allow embryos to be tested for severe inherited diseases or chromosomal abnormalities. In addition to IVF/ICSI and repeated freezing and thawing of the embryos, PGT requires a biopsy to obtain embryonic genetic material for analysis. However, the potential effects of PGT on obstetric and neonatal outcomes are currently uncertain.

Objective and rationale: This study aimed to investigate whether pregnancies conceived after PGT were associated with a higher risk of adverse obstetric and neonatal outcomes compared with spontaneously conceived (SC) pregnancies or pregnancies conceived after IVF/ICSI.

Search methods: PubMed, EMBASE, MEDLINE, Web of Science and The Cochrane Library entries from January 1990 to January 2021 were searched. The primary outcomes in this study were low birth weight (LBW) and congenital malformations (CMs), and the secondary outcomes included gestational age, preterm delivery (PTD), very preterm delivery (VPTD), birth weight (BW), very low birth weight (VLBW), neonatal intensive care unit (NICU) admission, hypertensive disorders of pregnancy (HDP), gestational diabetes, placenta previa and preterm premature rupture of membranes (PROM). We further pooled the results of PGT singleton pregnancies. Subgroup analyses included preimplantation genetic diagnosis (PGD), preimplantation genetic screening (PGS), cleavage-stage biopsy combined with fresh embryo transfer (CB-ET) and blastocyst biopsy combined with frozen-thawed embryo transfer (BB-FET).

Outcomes: This meta-analysis included 15 studies involving 3682 babies born from PGT pregnancies, 127 719 babies born from IVF/ICSI pregnancies and 915 222 babies born from SC pregnancies. The relative risk (RR) of LBW was higher in PGT pregnancies compared with SC pregnancies (RR = 3.95, 95% confidence interval [CI]: 2.32-6.72), but the risk of CMs was not different between the two groups. The pooled results for the risks of LBW and CMs were similar in PGT and IVF/ICSI pregnancies. The risks of PTD (RR = 3.12, 95% CI: 2.67-3.64) and HDP (RR = 3.12, 95% CI: 2.18-4.47) were significantly higher in PGT pregnancies compared with SC pregnancies. Lower gestational age (mean difference [MD] = -0.76 weeks, 95% CI -1.17 to -0.34) and BW (MD = -163.80 g, 95% CI: -299.35 to -28.24) were also noted for PGT pregnancies compared with SC pregnancies. Nevertheless, compared with IVF/ICSI pregnancies, the risks of VPTD and VLBW in PGT pregnancies were significantly decreased by 41% and 30%, respectively, although the risk of HDP was still significantly increased by 50% in PGT pregnancies compared with IVF/ICSI pregnancies. The combined results of obstetric and neonatal outcomes of PGT and IVF/ICSI singleton pregnancies were consistent with the overall results. Further subgroup analyses indicated that both PGD and PGS pregnancies were associated with a higher risk of PTD and a lower gestational age compared with SC pregnancies.

Wider implications: This meta-analysis showed that PGT pregnancies may be associated with increased risks of LBW, PTD and HDP compared with SC pregnancies. The overall obstetric and neonatal outcomes of PGT pregnancies are favourable compared with those of IVF/ICSI pregnancies, although PGT pregnancies were associated with a higher risk of HDP. However, because the number of studies that could be included was limited, more randomised controlled trials and prospective cohort studies are needed to confirm these conclusions.

Antenatal presentation of MRPS22-related mitochondrial disease confirmed with rapid proteomics

L. N.Semcesen, M.Ball, D. H.Hock, et al., “Antenatal Presentation of MRPS22-Related Mitochondrial Disease Confirmed With Rapid Proteomics,” JIMD Reports67, no. 3 (2026): e70092, https://doi.org/10.1002/jmd2.70092.

Abstract

MRPS22-related mitochondrial disease (MIM#611719) is a rare autosomal recessive disorder caused by defects in the mitochondrial ribosomal protein S22, a component of the small mitoribosomal subunit essential for mitochondrial translation. Of the few reported cases, most present antenatally with a severe phenotype, conveying a poor prognosis. We describe a fetus with severe antenatal-onset MRPS22-related mitochondrial disease and the use of multi-omics in the molecular diagnosis. A primigravida underwent termination of pregnancy following identification of multiple congenital anomalies (hydrops fetalis, microcephaly, corpus callosal agenesis, periventricular cysts and cardiac hypertrophy) on ultrasound at 20 + 2 weeks' gestation, confirmed on fetal magnetic resonance imaging. Trio genome sequencing revealed compound heterozygous variants in MRPS22 (NM_020191.4: c.509G>A; p.(Arg170His) and c.565C>G; p.(Arg189Gly)). Rapid proteomic analysis demonstrated destabilisation of the small mitoribosomal subunit and combined reduction of OXPHOS complexes, supporting the pathogenicity of the variants. This case consolidates the antenatal phenotype of severe MRPS22-related disease and highlights the importance of considering mitochondrial disease in the differential diagnosis of congenital anomalies, especially hydrops fetalis and corpus callosum anomalies. This study provides evidence for the utility of multi-omic approaches (trio genome sequencing, proteomics) in confirming variant pathogenicity following pregnancy loss, enabling accurate diagnosis, and informing reproductive counselling for affected families.

Key Points

MRPS22-related mitochondrial disease should be considered in the differential diagnosis of fetal hydrops and multiple congenital anomalies, particularly in the presence of corpus callosum agenesis.

Rapid proteomic analysis confirmed the pathogenicity of MRPS22 variants identified by genomic autopsy, demonstrating the utility of multi-omic diagnostics following pregnancy loss.

Treatment practices and outcomes in continuous spike and wave during slow wave sleep

Baumer FM, McNamara NA, Fine AL, Pestana-Knight E, Shellhaas RA, He Z, Arndt DH, Gaillard WD, Kelley SA, Nagan M, Ostendorf AP, Singhal NS, Speltz L, Chapman KE. Treatment Practices and Outcomes in Continuous Spike and Wave during Slow Wave Sleep: A Multicenter Collaboration. J Pediatr. 2021 May;232:220-228.e3. doi: 10.1016/j.jpeds.2021.01.032. Epub 2021 Jan 20. PMID: 33484700; PMCID: PMC8934740.

Abstract

Objectives: To determine how continuous spike and wave during slow wave sleep (CSWS) is currently managed and to compare the effectiveness of current treatment strategies using a database from 11 pediatric epilepsy centers in the US.

Study design: This retrospective study gathered information on baseline clinical characteristics, CSWS etiology, and treatment(s) in consecutive patients seen between 2014 and 2016 at 11 epilepsy referral centers. Treatments were categorized as benzodiazepines, steroids, other antiseizure medications (ASMs), or other therapies. Two measures of treatment response (clinical improvement as noted by the treating physician; and electroencephalography improvement) were compared across therapies, controlling for baseline variables.

Results: Eighty-one children underwent 153 treatment trials during the study period (68 trials of benzodiazepines, 25 of steroids, 45 of ASMs, 14 of other therapies). Children most frequently received benzodiazepines (62%) or ASMs (27%) as first line therapy. Treatment choice did not differ based on baseline clinical variables, nor did these variables correlate with outcome. After adjusting for baseline variables, children had a greater odds of clinical improvement with benzodiazepines (OR 3.32, 95%CI 1.57-7.04, P = .002) or steroids (OR 4.04, 95%CI 1.41-11.59, P = .01) than with ASMs and a greater odds of electroencephalography improvement after steroids (OR 3.36, 95% CI 1.09-10.33, P = .03) than after ASMs.

Conclusions: Benzodiazepines and ASMs are the most frequent initial therapy prescribed for CSWS in the US. Our data suggests that ASMs are inferior to benzodiazepines and steroids and support earlier use of these therapies. Multicenter prospective studies that rigorously assess treatment protocols and outcomes are needed.

Euthanasia story

A physically healthy British woman heartbroken over the death of her only son is heading to Switzerland to end her own life at an assisted suicide clinic.

Wendy Duffy, 56, attempted to take her own life after her son died four years ago — but is soon bound for Switzerland, where assisted suicide is legal, after her application was accepted by a clinic, according to the London Times.

Duffy, a former care worker from the West Midlands, told the Daily Mail that she paid Pegasos, a Swiss assisted-dying nonprofit organization, $13,500 to euthanize herself under its care, saying suicide is the only way her “spirit can be free.”

“I could step off a motorway bridge or a tower block but that would leave anyone finding me dealing with that for the rest of their lives,” she said.

She said she’s been forced to travel to Switzerland as a hotly debated right-to-die bill has stalled in Parliament over the last year.

Duffy’s son, Marcus, died at the age of 23 after choking on a tomato that became lodged in his windpipe while he was sleeping.

Nine months later, she tried to kill herself by overdosing and had to be put on a ventilator for two weeks.

Ultimately, she said, no amount of medication or therapy can make her whole again and that she “can’t wait” to die.

She’s already chosen what she will wear on her deathbed and told the Daily Mail that Lady Gaga and Bruno Mars’ “Die With A Smile” will be playing as she passes on. Once she’s dead, she’s requested that all the belongings she brought with her be donated.

Duffy said her siblings, four sisters and two brothers, are understanding of her decision — but she knows it will be difficult to say goodbye to them forever.

“I will call them when I get to Switzerland. It will be a hard call where I’ll say goodbye and thank them,” she said. “But they will get it. They know. Honestly, 100%, they know that I’m not happy, that I don’t want to be here.”

Patrick Reilly

https://nypost.com/2026/04/23/world-news/physically-healthy-mom-to-end-life-by-euthanasia-at-swiss-clinic-after-death-of-her-son/

Digenic muscular dystrophy due to SRPK3 and TTN variants

Inspired by a patient

Töpf A, Cox D, Zaharieva IT, Di Leo V, Sarparanta J, Jonson PH, Sealy IM, Smolnikov A, White RJ, Vihola A, Savarese M, Merteroglu M, Wali N, Laricchia KM, Venturini C, Vroling B, Stenton SL, Cummings BB, Harris E, Marini-Bettolo C, Diaz-Manera J, Henderson M, Barresi R, Duff J, England EM, Patrick J, Al-Husayni S, Biancalana V, Beggs AH, Bodi I, Bommireddipalli S, Bönnemann CG, Cairns A, Chiew MT, Claeys KG, Cooper ST, Davis MR, Donkervoort S, Erasmus CE, Fassad MR, Genetti CA, Grosmann C, Jungbluth H, Kamsteeg EJ, Lornage X, Löscher WN, Malfatti E, Manzur A, Martí P, Mongini TE, Muelas N, Nishikawa A, O'Donnell-Luria A, Ogonuki N, O'Grady GL, O'Heir E, Paquay S, Phadke R, Pletcher BA, Romero NB, Schouten M, Shah S, Smuts I, Sznajer Y, Tasca G, Taylor RW, Tuite A, Van den Bergh P, VanNoy G, Voermans NC, Wanschitz JV, Wraige E, Yoshimura K, Oates EC, Nakagawa O, Nishino I, Laporte J, Vilchez JJ, MacArthur DG, Sarkozy A, Cordell HJ, Udd B, Busch-Nentwich EM, Muntoni F, Straub V. Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nat Genet. 2024 Mar;56(3):395-407. doi: 10.1038/s41588-023-01651-0. Epub 2024 Mar 1. PMID: 38429495; PMCID: PMC10937387.

Abstract

In digenic inheritance, pathogenic variants in two genes must be inherited together to cause disease. Only very few examples of digenic inheritance have been described in the neuromuscular disease field. Here we show that predicted deleterious variants in SRPK3, encoding the X-linked serine/argenine protein kinase 3, lead to a progressive early onset skeletal muscle myopathy only when in combination with heterozygous variants in the TTN gene. The co-occurrence of predicted deleterious SRPK3/TTN variants was not seen among 76,702 healthy male individuals, and statistical modeling strongly supported digenic inheritance as the best-fitting model. Furthermore, double-mutant zebrafish (srpk3-/-; ttn.1+/-) replicated the myopathic phenotype and showed myofibrillar disorganization. Transcriptome data suggest that the interaction of srpk3 and ttn.1 in zebrafish occurs at a post-transcriptional level. We propose that digenic inheritance of deleterious changes impacting both the protein kinase SRPK3 and the giant muscle protein titin causes a skeletal myopathy and might serve as a model for other genetic diseases.

Sharkova I, Borovikov A, Konovalov F, Nefedova M, Shchagina O, Kutsev S, Murtazina A. Clinical and Genetic Analysis of Digenic Muscular Dystrophy due to SRPK3 and TTN Variants in Two Siblings. Clin Genet. 2025 May;107(5):547-551. doi: 10.1111/cge.14673. Epub 2024 Dec 12. PMID: 39667923.

Abstract

We present a family with two male siblings diagnosed with a newly described digenic myopathy, involving likely pathogenic loss-of-function variants in the SRPK3 and TTN genes: hemizygous p.(Pro68ArgfsTer55) and heterozygous p.(Trp14174Ter), respectively. Both siblings experienced prenatal disease onset, characterized by weak fetal movements, but showed significant clinical improvement over two last years of our follow-up. Key features included early onset, delayed motor development, and prominent axial and proximal weakness, while adult variants' carriers remained asymptomatic, without any myopathic or cardiac manifestations. Lower limb MRI revealed distinctive abnormalities, with different patterns between the siblings: the older brother showed more pronounced involvement of the thigh muscles, while the younger brother exhibited greater changes in the lower leg muscles. Given the early stage of the disease in our patients and the initial changes observed on MRI, we suggest that the semitendinosus and vastus lateralis muscles are primarily involved at the thigh level in SRPK3/TTN-myopathy. This case highlights the importance of considering digenic inheritance in neuromuscular disorders and underscores the necessity of comprehensive genetic analysis in similar cases.

Reproductive decision-making in individuals with neurofibromatosis type 1

Kowal K, Domaradzki J. "To have children or not?" Between desire, responsibility, luck, and guilt: reproductive decision-making in individuals with neurofibromatosis type 1. Orphanet J Rare Dis. 2025 Oct 21;20(1):531. doi: 10.1186/s13023-025-04061-z. PMID: 41121384; PMCID: PMC12542219.

Abstract

Background

Neurofibromatosis type 1 (NF1) is a rare autosomal dominant disorder with a 50% chance of being passed to offspring. Its hereditary nature presents individuals with complex reproductive dilemmas. This study explores the complexity of decision-making and reproductive choices faced by people with NF1 regarding parenthood.

Results

Genetic risk is a key factor shaping reproductive decisions. For some individuals, the decision not to have children is seen as a protective and morally responsible practice, aiming to spare potential offspring from the stigma and isolation they themselves experienced. Some women were also concerned for their own physical and emotional health, especially in relation to pregnancy and caregiving. Medical professionals’ opinions significantly influence choices, sometimes outweighing personal desires for parenthood and shaping perceptions of reproductive responsibility. Parents who were unaware of their diagnosis at the time of conception express guilt and regret. Despite the risks, many still wish to have children but struggle with the fear of passing on the NF1 mutation and potential difficulties in bonding with a child who may also be affected. Individuals who realized procreative plans despite severe NF1 treat parenthood as an important element of their non-disease identity and a source of emotional strength.

Conclusions

For individuals with NF1, reproductive decision-making is a complex dilemma, in which procreation anxiety intersects with hopes for parenthood, a sense of responsibility for the child’s future, and personal identity.

https://www.youtube.com/watch?v=056dMq2upWs

https://www.youtube.com/watch?v=hETXFdKOc6M

https://www.youtube.com/watch?v=toJsm1FL0RU

Retinoblastoma

It was September 2025, about a month after her daughter Miley turned 2, when she began noticing brief signs of what looked like a lazy eye. After contacting her pediatrician, she was referred to an ophthalmologist, with an appointment scheduled for December.

Because strabismus — commonly known as a “lazy eye” — affects about 2 to 4 percent of young children, according to the American Association for Pediatric Ophthalmology and Strabismus, there was no immediate concern.

Still, as the weeks passed, something didn't sit right.

Then one night in November, while giving Miley a bath, Kristen noticed something she couldn't brush off.

“I noticed she had a white pupil in the bathtub when she looked at me in the light. It looked like a glow in her eye,” the mom tells PEOPLE exclusively. “I panicked and started googling but was trying not to freak myself out.”

Even then, she tried to keep her fears in check.

But later that night, after Miley had gone to sleep, Kristen kept searching — until she came across a story that changed everything.

“I ended up researching after she went to bed and saw an article of a mom that found out her daughter had a tumor on a baby monitor because her daughter's eye was just black,” she says. “I then looked at the monitor and Miley's eye was black.”

In that moment, everything shifted.

Although her husband tried to reassure her, Kristen couldn't shake the feeling something wasn't right.

The next morning, on Nov. 9, the family drove to the emergency room, where her fears were confirmed. There, her daughter was diagnosed with retinoblastoma.

“It was dreadful. I felt alone," Kristen says. "I didn't know anyone with a child with cancer personally. I didn't know anyone with one eye. It was truly scary and I felt so scared for her future.”

Retinoblastoma is a rare type of eye cancer that typically begins in the retina — the light-sensitive tissue at the back of the eye — and most often affects young children, according to the Mayo Clinic. One of the most common warning signs is a white reflection in the pupil, sometimes noticeable in certain lighting or photos.

Just days earlier, life for Kristen and her family had felt steady and full. The 29-year-old, who lives near Cleveland, Ohio, shares a blended household with her husband — whom she met while they were both serving in the Air Force — along with his 13-year-old daughter, their 2½-year-old Miley and their 7-month-old baby. With a master's degree in social work, she was used to being the one helping others.

Less than two weeks later, the next step was clear. On Nov. 21, Miley underwent surgery to remove her eye.

“Her tumor ended up being grade E. Which typically means that the eye needs removed. They don't believe she had vision for a few months. It was hard to process this because she didn't even act like she had vision from one eye.”

In the days that followed, Kristen found herself looking back — wondering if there had been signs she missed.

But there weren't.

“My family and I are very attentive and we had no idea. it's amazing to me how well she adapted.”

And in many ways, Miley never stopped being Miley.

Now 2½, she still fills their home with energy and personality.

“She is so funny and loves to make us laugh, she loves to dance, she is empathetic and feels everyone's emotions around her. She loves princess dresses, painting her nails, all the girl things. But she also loves dinosaurs and helping her dad work with his tools.”

Still, the journey didn't end with surgery.

After doctors performed a biopsy, they determined the cancer had entered a high-risk area — meaning Miley would need chemotherapy.

“They told us she needs 6 rounds of chemo. She has her last round of chemo next month.”

Since then, their lives have revolved around treatment schedules and hospital stays.

“So far, she has needed 2 days of chemo a month. Three days total at the hospital with the last day being de-accessing her port and giving her a shot that helps raise her white blood cell count to help her fight infection during her treatment.”

But for Kristen, the hardest part has been the emotional toll.

“The most challenging part has been watching her be poked and prodded. Having her ask us to ‘just go home.'”

At home, a new routine brought its own challenges.

“We also have had to take out her prosthetic eye and clean it. Put it back in. This has been a hard adjustment for our whole family.”

And yet, through every step, Miley has led the way.

“Miley has blown us away. She has been so positive. She's been resilient. She has truly lead the way with her positivity. She is the strongest person that I know.”

In the midst of it all, Kristen found herself searching for connection — which ultimately led her to start sharing Miley's journey on TikTok.

“I am someone who really thrives having a community when I am going through something. I wanted to share Miley's story to help others who are facing hard times. I also want to give Miley a sense of purpose. So she can see that her hardship has helped others. I also wanted to give Miley a sense of community.”

What started as a way to cope quickly turned into something much bigger.

“Since posting Miley's journey, I have met SO many amazing men and women; girls and boys; with one eye. Miley now has so many people I can connect her with in her life so she never feels alone!”

The response, she says, has helped reshape how she sees the future.

“I have had people share their personal testimonies how having one eye has never stopped them. It has truly helped to give me positivity in something that seemed so so dreadful. The response from everyone else has also been so positive. There has been so much love and support. It's truly helped me to keep going and to be strong.”

At first, going viral came with complicated emotions.

“I felt guilty when she went viral at first. But as I stated, if I didn't, she wouldn't have this huge community of people.”

Now, she sees the impact more clearly.

“I have friends now with kids who have one eye who are her age and I can connect with. She has friends now who can relate with her. I have also had others reach out to me who are just now entering the journey who I have been able to help.”

Looking back, Kristen hopes sharing Miley's story will encourage other parents to trust their instincts.

“I hope people are just aware of the signs. Please, if you see a glow in your child's pupil. Go to the ER. In general, advocate for your kids. You as a parent know best!”

And for parents facing similar situations, she has one message.

“I would say - you are amazing. It's not your fault. Try not to carry guilt because we don't know what we don't know. I, myself, carry guilt for somehow not just KNOWING about this possibly diagnosis and getting her in sooner. But, we can only do what we can with the information we have.”

Jordan Greene

https://people.com/alarming-detail-baby-monitor-days-later-daughter-rare-diagnosis-exclusive-11954332