Rare Conditions Register

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Connecting with a family

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Sometimes we are not able to connect a family with a support parent who has a child with a similar condition, and we need to search further afield. We are currently looking for contacts for the following conditions.

If you are able to be a support contact for any of these families, please contact our support parent and information team on 0508 236 236.

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Ref: 2093
8q12.1 DUPLICATION
The family of a 17-year-old girl would love to have contact with other families with children with this rare genetic condition.
Ref: 24322
19p 13.13 MICRODELETION
A mother of a 5-year-old girl would like to connect with another family raising a child with this microdeletion.
Ref: 8162
ALPHQ-DYSTROGLYCANOPATHY POMTI-2
The mother of a 14-year-old daughter would love to have contact with another family who also have a child with this condition.
Ref: 4708
ATAXIC DYSARTHRIA:
The mother of a 10-year-old boy diagnosed with this condition would like to talk with another family who has a child with this rare condition.
Ref: 14488
AUTONOMIC DYSFUNCTION / DYSAUTONOMIA
The family of a 7-year-old son would like the opportunity to speak to another family who have a child with this very rare condition.
Ref: 26103
CEREBRAL CAVERNOUS MALFORMATIONS
A mother of a 4-year-old boy would like to connect with another family raising a child with this condition.
Ref: 3750
CHILAIDITI SYNDROME
The mother of a 21-year-old daughter would like to speak to another parent who has a child with this rare syndrome.
Ref: 28836
CHILDHOOD DEMENTIA
The mother of an 11-year-old daughter would like to speak to another parent who also has a child with this condition.
Ref: 27200
CHRONIC RECURRENT MULTIFOCAL OSTEOMYELITIS
The mother of a 6-year-old daughter would like to speak to another parent who also has a child with this rare condition.
Ref: 29276
CONGENITAL DIAPHRAGMATIC HERNIA (CDH)
The mother of a 3.5-year-old boy would like to speak with another parent whose child has this condition and/or has undergone surgery on reverse latissimus dorsi muscle flap.
Ref: 15667
CONGENITAL SUCRASE ISO-MALTASE DEFICIENCY
The mother of a 7-year-old son would like to have contact with another family who also has a child with this condition.
Ref: 14549
CONGENITAL VENOUS MALFORMATION / VASCULAR MALFORMATION
The mother of a 7-year-old son would like to speak to another family who have a child with this condition, specifically regarding the eye socket and surgery/placement of a false eye.
Ref: 15608
DIFFUSE CAPILLARY MALFORMATION WITH OVERGROWTH
The family of a 6-year-old son would like to have contact with another family who also have a family member with the same condition.
Ref: 14488
DYSAUTONOMIA / AUTONOMIC DYSFUNCTION
The family of a 7-year-old son would like the opportunity to speak to another family who have a child with this very rare condition.
Ref: 32831
DYSDIADOCHOKINESIA
The mother of a 16-year-old daughter would like to connect with another parent of a child around the same age who has Dysdiadochokinesia.
Ref: 13959
ECTRODACTYL ECTODERMAL DYSPLASIA CLEFT LIP/PALATE
The family of two children under 10 diagnosed with this rare condition would love to connect with any other families who have a child or children with this same condition.
Ref: 29028
EMANUEL SYNDROME
The mother of a 5-month-old son with Emanuel Syndrome would love to connect with other families who also have a family member with this very rare syndrome.
Ref: 18927
EPILEPTIC ENCEPHALOPATHY
The mother of a 17-year-old daughter with Febrile Illness Refractory Epilepsy Syndrome (FIRES) and resultant epileptic encephalopathy following a tick bite would love to have contact with other families with this rare form of epilepsy.
Ref: 17850
EPISPADIAS SPECTRUM SYNDROME
The mother of an 8-year-old daughter would love to connect with another family with a daughter with this rare condition. She would also like to speak with a parent about Mitrofanoff catheters, aka suprapubic catheters and their care and use. Ref 17850
Ref: 18927
FEBRILE ILLNESS REFRACTORY EPILEPSY SYNDROME (FIRES)
The mum of a 17-year-old daughter with Febrile Illness Refractory Epilepsy Syndrome (FIRES) and resultant epileptic encephalopathy following a tick bite would love to have contact with other families with this rare form of epilepsy.
Ref: 29670
FOXG1 SYNDROME
The mother of a boy less than a year old would like to speak with another parent with a younger child with FOXG1 Syndrome or a similar condition including epilepsy and possible intellectual disability.
Ref: 26569
FRONTAL LOBECTOMY SURGERY
The mother of an almost two-year-old boy would like to talk to any parents who have children who have had a frontal lobectomy. This surgery is being considered as a potential option for her son.
Ref: 13601
FUNCTIONAL NEUROLOGICAL DISORDER AND/OR SUDDEN LOSS OF VISION (ADULT MALE):
The mother of an adult son would like to have contact with another family who have an adult son diagnosed with Functional Neurological Disorder or the sudden onset of loss of vision which happened in teenage years.
Ref: 33109
GENETIC MUTATION ON KIF11 GENE
A mother is looking for other families with children who have been diagnosed with a rare genetic mutation on KIF11 gene causing microcephaly, vision problems and developmental delay. Her daughter is 3.5 years old and diagnosed with this condition.
Ref: 18831
GRAVES DISEASE
The mother of a 12-year-old boy with Graves Disease and thyroidectomy would love to connect with another parent who has a child with the same condition.
Ref: 7051
GROWTH HORMONE INSENSITIVITY SYNDROME (GHIS)
The mother of a 9-year-old girl would like to talk to another parent who has a child with the same rare condition.
Ref: 23046
HEPATIC PORTAL HYPERTENSION
The mother of a 5-year-old girl would really like to speak to and connect with another parent who has a child with this condition.
Ref: 19993
HERPES SIMPLEX ENCEPHALITIS
The mother of a 3-year-old boy with intellectual disability and global developmental delay caused by this condition would love to connect with other families with children affected by this virus.
Ref: 23322
IDIOPATHIC PULMONARY HEMOSIDEROSIS
The family of a 6-year-old girl would love to have contact with other families with children with this rare condition.
Ref: 18410
IMPERFORATE ANUS
The mother of a 12-year-old girl with imperforate anus (with no other co-existing conditions) who has had a MACE procedure would love to connect with other families with daughters of similar age who similarly have no other conditions. It is hoped that in time the girls could contact each other and be a source of support for each other.
Ref: 7051
INSULIN-LIKE GROWTH FACTOR 1 RESITANCE (IGF 1 R)
The mother of an 9-year-old girl would like to talk to another parent who has a child with the same rare condition.
Ref: 12680
KAT6A SYNDROME
A mother of a young child with a rare diagnosis of KAT6A would like to speak with another parent who also has a child with the same diagnosis. Ref 12680
Ref: 28836
KEARNS-SAYRE SYNDROME
The mother of an 11 year old daughter would like to speak to any other parents who also have children with this rare condition.
Ref: 16596
LEFT VENTRICULAR NON-COMPACTION
The family of a 14-year-old young man would like to connect with families with children with this condition, preferably the isolated form of LVNC.
Ref: 26251
LEUKODYSTROPHY
The family of a recently diagnosed daughter (10 years old) with Leukodystrophy would love to hear from other families who also have young children with this condition. Their daughter specifically has H-ABC or TUB4A related leukodystrophy, but they welcome contact from families of children (under the age of 18) with any type of leukodystrophy.
Ref: 27760
MEGALENCEPHALIC LEUKOENCEPHALOPATHY with SUBCORTICAL CYSTS (MLC) / VAN DER KNAAP DISEASE
The family of two young children (ages 2 and 6) with this rare type of Leukodystrophy would like to have contact with other families who also have children with this condition.
Ref: 26348
OSTEOGENESIS IMPERFECTA
The mother of a baby with Osteogenesis Imperfecta would like to speak to other families who also have children with this condition.
Ref: 24780
REFLEX ANOXIC SEIZURE
A mother of a 3-year-old boy would like to connect with another family raising a child with this condition.
Ref: 26861
REGRESSIVE AUTISM/CHILDHOOD DISINTEGRATIVE DISORDER
The mother of a 5-year-old son would like to have contact with another family who also has a child with this condition.
Ref: 24494
RUBINSTEIN-TAYBI SYNDROME
A mother of a 1-year-old boy would like to connect with another family raising a child with this syndrome.
Ref: 25928
RUSSELL SILVER SYNDROME
A mother of a 1-year-old boy would like to connect with another family raising a child with this syndrome.
Ref: 18851
SPRENGEL DEFORMITY
The mother of a 7-year-old daughter would love to hear from families who have a child with this variant of spina bifida occulta.
Ref: 16573
STURGE WEBER SYNDROME
The mother of a 6-year-old daughter would like to have contact with another family with a child with this condition.
Ref: 27841
THUMB HYPOPLASIA SURGERY
The mother of a two year old child with Thumb Hypoplasia is considering surgery and would like to talk to another parent whose child has also had surgery for this condition.
Ref: 14549
VASCULAR MALFORMATION / CONGENITAL VENOUS MALFORMATION
The mother of a 2-year-old son would like to speak with another family who have a child with this condition, specifically regarding the eye socket and surgery/placement of a false eye.
Ref: 34889
WEST SYNDROME
We have a family from South Africa whose little boy (6 years old) has West Syndrome. Mum is feeling isolated and would love to connect with other families that have young children with the same diagnosis.
Ref: 5477
WOLF-HIRSCHHORN SYNDROME
The family of a 15-year-old daughter would love to have contact with another family in Auckland or North of Auckland who also have a child with this condition.
Ref: 26260
7q11.23 CHROMOSOME DUPLICATION
The mother of a 9-year-old son would love to have contact with other families who also have children with this condition.

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