Carbohydate deficient Glcoprotein disorder

[kiwibird27]

Our 7 week old baby has been diagnosed with CDG (Carbohydrate deficient Glycoprotein Disorder)- type to be figured out, we are faced with much uncertainty and may be in hospital for the duration of our child's life (which could be long as they can keep her alive using various method) as there is no cure - anyone else facing similar circumstances????
Any-one else with the disorder ?????
Have been told it's very rare, I find myself wishing she had a heart condition, then at least u have a % for survival a date for surgery and u walk away at the end of the day with a dead or alive child (If u understand this last sentence then u know where I am coming from!!!!)

Anyone in a similar circumstance??????

[kiwibird27]

Thanks!!!!!:hugs:

[jessgray]

:hugs: hugs for you
i am not in a similar situation. i hope you find out what type it is soon :) has she started a treatment?i havent heard of CDG before.

[Rell]

:hugs: to you and your family. I have never herd of CDG so I can not emagin the pain you are going through right now.
Hopefully someone on here can help you out with a simmilar story.
Best wishes to you and your little girl :hugs:

[kiwibird27]

Thanks everyone = The hardest thing is its so rare there isn't any support groups or much information about it!!!

[GIZMOE]

Hi I was actually researching this disorder when I was at School. This is some of the information that I kept on my computer. Don't really know how updated it is but at least it gives you an understanding. I am sorry that your family is going through this and my thoughts and prayers are with you.

Amyxx

Hope this helps.
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General comments about the disease.
The CDG - syndrome is an inherited metabolic disease, affecting all parts of the body; especially the function of the central and peripheral nervous system is disturbed. The degree of impairment varies, but the patients all have balance and co-ordination disturbances. The underdeveloped small brain (cerebellum), together with a pronounced muscle weakness in the legs, leads to difficulty to walk.

The diagnosis is based on a number of early symptoms and signs (e.g.: bilateral squint, inverted breast nipples, and the presence of characteristic fat pads on the buttocks) in combination with the presence of a special biochemical marker in the blood - CDT (Carbohydrate Deficient Transferrin) - significantly elevated in all individuals with the CDG - syndrome. Prenatal diagnosis is possible to obtain by means of molecular genetic techniques or test for phosphomannomutase 2 activity (see PMM 2 below). Healthy carriers of the gene (who have only one CDG - gene) can be identified in a similar way.

The disease is inherited in an autosomal recessive mode. This means that both parents must carry one defective gene to have a sick child, and moreover that the probability for this to happen is 25 % for each pregnancy. (Both genes in the gene pair have to be defective to develop the CDG - syndrome).

In September 1997, 200 patients with CDG had been diagnosed in Europe. During the last years, approximately one patient per month is diagnosed. The incidence in Sweden is 1 per 80,000 live born babies. Eventually as the syndrome becomes more widely known among the physicians, more patients, until now without the correct diagnose, will be transferred to this group.

During the last years, three new types of CDG have been discovered, type II, III, and IV. It is therefore probable that a whole group of new inherited diseases is characterised by carbohydrate-deficient glycoproteins.
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What is the reason for the disease?

The basic biochemical error is not yet fully understood, but it involves a disturbance in the ability of the cells to produce complete carbohydrate chains of glycoproteins, which among other things are important in the body for the transport of proteins. The gene responsible for the CDG - syndrome has recently been localised to the distal part of the short arm of chromosome number 16 (16 p 13). There are reasons to believe that this gene disturbs the function of a recently discovered enzyme, phosphomannomutase 2 (PMM 2), which is required to make the carbohydrate mannose functionable for building glycoproteins. Glycoproteins contain chains of usually four different carbohydrates. Mannose, being one of these carbohydrates, is needed for the other three to be combined.
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The four clinical stages.

Stage I: The Infantile Stage.
The first three years can be most serious and life threatening. During this period the symptoms can be mild, but most infants experience serious involvement of internal organs. Characteristic features are feeding problems and failure-to-thrive, liver dysfunction, pericardial effusions, lipodystrophic skin, convergent squint, retracted nipples, limb joint restriction, psychomotor developmental delay and olivopontocerebellar atrophy.

Stage II: The Late-infantile and Childhood Stage.
The predominant signs are mental retardation and ataxia (co-ordination difficulties). Mental retardation may be moderate or severe. The motor disability in the lower and upper limbs is now evident. Cerebellar ataxia is stable. The onset of retinitis pigmentosa develops in most children. Fits and stroke-like episodes may occur during this age and can be triggered by fever or infection.

Stage III: The Teenage Stage.
Once the children reach the teenage years the major medical complications cease or stabilise. Skeletal abnormalities may be noticeable; short stature with pigeon-barrel chest, thoracic spinal deformities (scoliosis) and osteopenia. Some children experience abnormalities involving the peripheral nervous system which may progressively worsen causing the legs to further weaken and become atrophic.

Stage IV: The Adult Stage.
The adult stage defines a permanent, stable cerebellar ataxia and peripheral neuropathy. Some individuals may continue to exhibit mild epileptic episodes. The skeletal abnormalities may be mild, but include in many cases a short stature, compressed "spider bodies" with disproportionally long, thin extremities. Females do not pass puberty and males develop secondary sexual signs later than normal. Severe visual impairment due to permanent strabismus and the effects of pigmentary retinal degeneration have been reported.
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What can I expect when my child gets the diagnosis?
This text describes the most common development for a child with CDGS Type I. It is important though to mention that the status of children with this diagnosis varies widely, although a mild onset of the disease is rare. The physical status varies along the scale from slightly affected children, walking without any support, to severely affected children. Likewise, the mental abilities vary from capable of following a normal school class with some difficulty, to severe mental retardation. One reason for this wide spectrum might be explained by the biochemical and genetical variation of the syndrome that is described lately.
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The functional problems.

Organ
Effect

Cerebrum Mental retardation. Delayed motor development. Seizures and temporary coma/paralysis (stroke-like episodes) may occur together or alone. The risk for stroke-like episodes declines by time.
Cerebellum Disturbances of movements, co-ordination and balance.

Peripheral nerves

(esp. in the legs) Muscle weakness (thin and weak muscles).
Retina Varying degree of visual deficiency is common, such as limitation of the visual field (binocular vision) and blindness in the dark.
Liver Severe changes of the liver function during the first years of life.
Infections In most cases infections pass normally. Sometimes normal, usually harmless, infections cause complications such as e.g. increased feeding problems and pericardial effusions.

Joints/skeleton Muscle weakness often causes contractures in the joints, especially in the legs and feet, and the spine (scoliosis).
Endocrine *** system Late puberty in the boys and absent puberty in the girls.

Short stature.

Heart Life threatening pericardial effusions may occur during the first year of life.
Blood Bleedings and tromboses can occur, but these difficulties decline in the teen age.

Gut Diarrhoea, vomiting and intestinal inflammation cause difficulties to thrive, especially during the first 2-3 years of life.

During the first year of life, the dominating problems are feeding difficulties, poor weight gain and delayed psychomotor development. There is a certain risk that the effect on the peripheral nervous system and the retina will increase slowly by time. Aside from this, the condition will be relatively stable, when the often critical infantile period has passed.
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The degree of functional retardation.

Generally All patients are affected, but the degree and nature of the handicap varies. No patient can be expected to manage a life without support from other people.
Walking function None or minimal. Dependence of wheel chairs or rollators is the rule. Only four patients known today can walk unsupported.
Sensory function All have squint and some degree of retinal disturbance (Retinitis pigmentosa). Hearing is affected to a varying extent. No patients have become permanently blind or deaf. Temporary blindness after stroke-like episodes has been reported though.
Communication The ability to talk normal language is in most cases strongly limited, while the ability to understand as a rule is good. The patients manage, though, to communicate with their nearest in their "own language".
Socially Good social contact. The children are good tempered, friendly, positive, and loving. They have a strong will and they are not aggressive. They have a very good memory for details, and they are willing to learn and put much energy into this. With lots of support and encouragement, and with the proper adjustments of the surroundings, they will develop positively in their own path. Seven patients, today grown ups, have protected employment.
Eating Most patients eventually learn to eat by themselves, but usually they need help to cut, chop or mash the food.
Care IImmense feeding problems may be experienced during the first year of life. Significantly increased need for care, especially when struck by other diseases, e. g. infections. The children easily gets critically ill from diseases banal to other children, like colds and similar conditions. Some children have, even if late, learned normal toilet habits, while others need napkins up to 10 years of age or longer. About half of the children take regular medication. Many also have bandages like a corset, leg splints or both.

[kiwibird27]

Thanks 4 that info - It has been confirmed as type 1A

[reAllytee]

I havent got any info i just wanted to say if you need me for anything just let me know :hugs:
It must be hard trying to work out whats going on & getting info for something so rare i hope you get some answers soon :hugs:

[kiwibird27]

Thanks - we are only number 8 or 9 in Australia so its pretty rare and hard to find people with the same disorder!!!

[mum23girls]

Hi kiwibird. Sorry to hear about bubby.....

My hubby used to be an associate of a company called Mannatech that provide supplements that are glyconutrients that help with cellular communication. It may be worth a look into. It is an american company but I know people that still sell it in Australia. If you would like any further information or contacts just let me know I will be more than happy to lead you in the right direction.
a little snippet of one of their products : http://www.mannapages.com/sharethegift/fod.asp?fodnumber=1520


www. mannatech.com
:kiss:

[kiwibird27]

Thanks - Mannose treatrment only works on children with type 1 b which means there missing the enzyme that makes mannose in the body - otherwise the supplements don;t work cause what she is missing can't be replicated!!!! Thanks though

[kiwibird27]

Giving this another go - anyone with Carbohydrate Deficient Glycoprotein Disorder??? Only 8 in Australia with type 1a, so I may be dreaming of finding anyone!!!!

[reAllytee]

Still havent got any info or the likes but will bump this to help.
Just wanted to say she is beautiful hun :hugs:

[lucinda7]

Hi There

Your bubba is gorgeous, kisses to her!
Just wanted to say my 8 week old baby has also been diagnosed with a rare genetic syndrome that will affect her life, and mine for the rest of our lives. We have yet to leave hospital with her as she was also born 9 weeks early and she has also endured a heart op (not related to her syndrome).
Just wanted you to know i am thinking of you and I know where you are coming from. I have been wishing she had down syndrome as then people would know what it was and we wouldn't have to keep explaining it and we would also know what the future held for her.
I guess the only thing that has worked for us is to try and take one day at a time, easier said than done though hunh?
I know we aren't supposed to do this but maybe if you pop over to *************.com.au special needs forum there may be someone over there, there are heaps of us over there with rare syndromes and conditions...