A lifesaving miracle: Bone marrow transplant gives six-month old baby a new lease of life

Shamli jenifer1, Sagayarani2, Booma3, S. J. Sonya Mercy Anbu4, Ruby Ravichandran5

1,2Staff Nurse, Maa Kauvery, Trichy, Tamil Nadu

3Deputy Nursing Superintend, Maa Kauvery, Trichy, Tamil Nadu

4Nurse Educator, Maa Kauvery, Trichy, Tamil Nadu

5Senior Deputy Nursing Superintend, Maa Kauvery, Trichy, Tamil Nadu

Introduction

With every tiny heartbeat, this brave little warrior showed us that even the smallest among us can fight the biggest battles, and that, with the miracle of a bone marrow transplant, hope is no longer a dream, but a promise of life

Abstract

Severe Combined Immune Deficiency (SCID) is a group of rare disorders caused by mutations in different genes involved in the development and function of infection-fighting immune cells. Infants with SCID appear healthy at birth. But, they are highly susceptible to severe infections. The condition is fatal, usually within the first year or two of life, unless infants receive immune-restoring treatments, such as transplants of blood-forming stem cells, gene therapy, or enzyme therapy. More than 80 percent of SCID infants do not have a family history of the condition. However, development of a newborn screening test has made it possible to detect SCID before symptoms appear, helping to ensure that affected infants receive life-saving treatments.

More than a dozen genes have been implicated in SCID, but gene defects are unknown in approximately 15 percent of newborn-screened SCID infants, according to an NIH-funded study. Most often, SCID is inherited in an autosomal recessive pattern, in which both copies of a particular gene—one inherited from the mother and one from the father—contain defects. The best-known form of autosomal recessive SCID is caused by adenosine deaminase (ADA) deficiency, in which infants lack the ADA enzyme necessary for T-cell survival. X-linked SCID, which is caused by mutations in a gene on the X chromosome, primarily affects male infants. Boys with this type of SCID have white blood cells that grow and develop abnormally.

History:

   A six months old female baby, 3 kg in weight, born to consanguineous parents is symptomatic since neonatal period with recurrent episodes of fever, diarrhea, abdominal distension and failure to thrive. On evaluation, Child has low immunoglobulin levels, low T cells, B cells and normal NK cells. Child was started on regular IVIG replacement and antibiotic prophylaxes. During the course of illness, child also had BCG site indurations with Axillary lymphadenopathy (dissemination of BCG), for which child was started on Isoniazid, Rifampicin and Levofloxacin. Clinical Exome Sequencing showed DCLRE1C gene homozygous mutation consistent with Omenn syndrome. In view of no matched donor, haploidentical transplant with father as donor was planned with TCRab depleted stem cells and memory T cells (CD45RO+) add back was planned and child was admitted.

Presenting Complaints:

Fever X15 days, low grade ,intermittent

Loose stools X 1 month 4-6 episodes/day Not blood stained

White patches over oral mucosa

Failure to gain adequate weight

Vomiting and abdominal distension

On Examination

BCG Site Iindurated

Oral Thrush + Emaciated thin built

Importance of BCG scar site

In immunodeficient patients, particularly those with conditions like severe combined immunodeficiency (SCID), chronic granulomatous disease (CGD), or Mendelian susceptibility to mycobacterium diseases (MSMD), the live attenuated BCG vaccine can lead to more severe and prolonged local reactions, including erythema and induration, and potentially progress to disseminated Infection

CBC – Borderline lymphopenia

Immunoglobulin profile – low T cell ,

B cell subset analysis was low, NK cell subset was normal.

NBT was negative.

Diagnosis of SCID was suspected.

Parents were counseled regarding the condition and the need for BMT after confirmation of the diagnosis.

Hb 10.2 /  TWBC 8960, ( N 74.3,  L 11.3,  M 12.4,  E 1.8 , B 0.2 )

ANC 6660 /  ALC 1010 ( Ref: 1000-4800) / Platelet 4.9 L

Most SCID patients present with lymphopenia at birth. Measuring the Absolute Lymphocyte Count (ALC) from cord blood is a low-cost, widely available method that can aid in pre-symptomatic detection and early intervention, despite being less sensitive and specific than the TREC assay.

In search for potential donors

National and international registries and database matching of parents

BMT Regimen

ParameterDetails
Stem cell productSource: PBSC (T cell depletion)
ChimerismFISH X/Y analysis
SOS prophylaxisInj. Ursodeoxycholic acid
ID prophylaxisInj. Caspofungin and switch to Voriconazole later; Syp. Acyclovir (from day 1); Cotrimaxzole – start after engraftment; For BCG reactivation – Tab. Isoniazid, Tab. Rifampicin and Levoflox continued
AnticonvulsantSyp. Levepil
TransfusionPacked cells: O positive (irradiated); Platelets: O positive (irradiated); FFP: O positive
MonitoringTwice a week: CBC, Na/K, Creat, SGPT; Every week: CMV PCR (weekly); Chimerism: when WBC > 500 (SOS), day 28, day 60, day 100

Chimerism: Chimerism post-engraftment is a state after a bone marrow or stem cell transplant where the recipient’s body contains both donor and recipient cells, detected by chimerism testing. This analysis, often using short tandem repeat (STR) analysis, monitors the success of the transplant by tracking the proportion of donor cells over time. Chimerism testing helps predict graft rejection, monitor for disease relapse, and assess the overall success and management of the transplant.

Why is Chimerism testing Important?

  • Monitoring engraftment success:

It confirms that donor stem cells are functioning and producing cells.

  • Predicting complications:

Chimerism analysis can detect signs of impending graft rejection or a failure to engraft properly.

  • Detecting relapse:

In patients with hematologic disorders, increasing recipient-derived cells may indicate a disease relapse. 

  • Guiding treatment decisions:

The information gained from chimerism monitoring helps clinicians adjust treatment strategies for the patient’s benefit.

Clinical findings                                                                
Child alert, Afebrile
Pulse volume good                                                               
Vitals
Temp   : 98.6’F
HR      : 102/mt
RR       : 26/mt
SPO2   : 98%
BP       : 100/60 mmHg

DAYDATEDRUGS
-919.05.2025Central line insertion; Premedication – IV Solumedrol
-820.05.2025Inj. Thymoglobulin (slow infusion)
-721.05.2025Inj. Thymoglobulin (slow infusion); Inj. Thiotepa × 2 doses
-622.05.2025Inj. Fludarabine; Inj. Treosulfan
-523.05.2025Inj. Fludarabine; Inj. Treosulfan
-424.05.2025Inj. Fludarabine; Inj. Treosulfan
-325.05.2025Inj. Fludarabine
-226.05.2025Rest
-127.05.2025Rituximab
028.05.2025Memory T cells; T cell–depleted PBSC infusion (CD34)

Post BMT  management

  • Prolonged diarrhoea : Rota Virus positive

Treated with IVIG and supportive therapy. Proper oral and IVF management

  • Dyselectrollytemia & fluid status difficulties :

Managed by pediatric intensivist consultation and properly monitored intake & out put

  • Severe malnutrition :

Managed by  IV. Aminoven and neocat formula feeds with pediatric gastro Enterologist consultation

  • Skin exfoliation : Managed conservatively
  • CMV reactivation (on 16/06 – day +19)

Inj. Ganciclovir given intravenously

  • BCG reactivation

HR and Levoflox continued

  • CVC site prolonged oozing of blood

Vitamin K, Platelet transfusions

  • Engraftment :

Neutrophils on day +10 and platelet on day +14

  • Chimerism

100% donor (done on 12/06/2025 – day+15)

  • IVIG replacement

Last IVIG (2.5   g) on 16/06/2025

  • Mouth ulcers

Managed with analgesic and anti inflammatory mouth gel

Nursing management:

  • Comprehensive assessment & Monitoring
  • Close monitoring of vitals and PEWS
  • Daily weight and fluid balance to detect early signs of fluid overload or dehydration
  • Regular assessment for signs of infection and Graft-versus-host disease (GVHD)
  • Monitoring of hematological parameters (Hemoglobin, Platelets, WBC) and organ function

Infection prevention and control:

  • Maintained strict neutropenic precautions, that is protective isolation, hand hygiene, visitors restriction, safe nutrition
  • Ensure central line care using aseptic technique to prevent CLABSI
  • Appropriate administration of antibiotic,anti fungal and anti viral

Medication administration and monitoring:

  • Administration of immunosuppressant as ordered, with close monitoring for side effects like renal toxicity
  • Timely administration of supportive medication like Anti emetics, Pain relief & growth factors.
  • Preparation of medication in chemo hood

Nutrition and hydration support

  • Collaborated with dietitian for individualized nutrition plan (TPN & Oral feed as tolerated)

Developmental and emotional support:

  • Provided age appropriate stimulation to support developmental mile stones
  • Supported bonding with care givers, encouraging skin to skin contact and presence of parents within infection control limits
  • Ensured emotional comfort with consistent, gentle care and soothing techniques

Co-ordination of multi-disciplinary team

  • Collaborated with physicians, Gastro enterologist, pediatric intensivist, nutritionist to participate in daily rounds care planning to ensure comprehensive patient centered care

Family education and support:

Educated the care givers regarding,

  • Infection prevention at home , Medication regimen, signs of complications ( Fever, GVHD signs) and about vaccination (not to vaccinate without consulting docor)
  • Offered psychological support to reduce anxiety and promote confidence

Discharged on 24/6/25:

Six  months old, so tiny, yet so bold.

A battle bravely fought

A miracle we never forget,

We have sent her home, not just healed, but with hope,

The tiny soul has shown more strength than most of us in a life time.

The medical team was incredible, with unwavering commitment, steady hands and compassionate hearts who cared the child not just with medical skills, but with gentleness, patience and genuine love.

Thanks to all the untiring efforts. the baby was finally discharged on 24th of June

During transplant:

Post transplant:

 

 

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