  I dedicate this page to my little girl : Heather Yvonne Kay She is one Very Special Little Angel!
HEAVEN'S SPECIAL CHILD
Rhizomelic Chondrodysplasia Punctata
What Is RCP?
Rhizomelic: The proximal (those closest to the body) segments of the arms and legs.
Chondrodysplasia: Abnormal growth of the cartilage.
Punctata: The spotting or stippling observed near the epiphyses (the growing ends) of the
bones on X-ray.
RCP is a genetic disorder that occurs about once per every 100,000 births. Babies with
RCP usually have shortening of the upper arms and legs, joint contractures (stiff joints),
poor growth, cataracts, dry skin and severe developmental delays. At birth most infants
with RCP are recognized to have a round face, high forhead, small, upturned nose, and a
long, flat philtrum (area between the upper lip and nose), as well as the shortening of
the proximal limbs and joint contractures. X-rays can confirm the rhizomelic shortening
and will also show stippling of various epiphyseal areas including the shoulder, elbow,
hip, knee, and ankle joints, spine, and airway cartilage. Coronal clefts (grooves in the
spine) may also be seen. Biochemical tests on a baby's blood or skin cells, at a
specialized laboratory, can provide confirmation of the diagnosis of RCP.
What Causes RCP? RCP is a peroxismal disorder. The peroxisomes are little structures found within cells whose function is to break down certain kinds of chemicals and to convert certain chemicals to forms that the body uses. Peroxisomal function can be analyzed in a variety of ways, and when such studies are done in children with RCP, it is found that certain of those peroxismal functions are profoundly abnormal. This means that there is a buildup of substances normally broken down by peroxisomal enzymes (molecules that help chemical reactions occur) and a decrease in the amounts of substances normally made by the peroxisomes. In scientific papers you will read that children with RCP have a defect in plasmalogen synthesis, low phytanic acid oxidase activity and thiolase build-up in the cells. It is not yet understood precisely how these peroxisomal defects cause all the problems associated with RCP.
How Is RCP Inherited? RCP is an inherited disorder. It was not caused by anything that was or was not done before or during pregnancy. At this time there is no way to determine which couples are at risk to have an affected baby unless they have already had one child with RCP. RCP is inherited in an autosomal pattern. This means that either females or males can be affected, and that affected individuals inherit the disorder from both parents who silently carry one copy of the gene for RCP. Every cell in our bodies contains 46 tiny, thread-like structures called chromosomes, which are made up of sequences of genes, much like beads on a string. The chromosomes come in pairs which are named by number from the longest pair (#1) to the shortest pair (#22); the 23rd pair are the sex chromosomes ("XX" in females, "XY" in males). There are about 100,000 gene pairs among the chromosomes, each coding for a specific characteristic of development, structure or function, such as blood type, hair color, enzymes, proteins, etc. In the parents of a child with RCP, the body is unable to read one gene of the pair, but it can still read the other so that sufficient enzyme is manufactured. This means that both parents are carriers of gene that cannot make certain peroxisomal enzymes. It is estimated that about 1 in 200 people carry the gene for RCP. Each child born to two carriers has a 1/4 (25%) chance of inheriting both of those genes.
The Care Of A Child With RCP! Decision making and Advanced Directives: It is often helpful for parents to develop an advance directive to their child's medical care providers. This is a document that provides guidance should your child become ill. It could request that no means be taken, or that one or more of the following be completed: CPR/resuscitation, tracheostomy, pain medications, IV's, antibiotics, oxygen, standard pulmonary care, intubation or any other measure you wish to include. Because of the serious nature of the physical disabilities that accompany RCP, you may need to be involved in life or death decisions for your baby. What is most loving for your baby? Should heroic means to prolong life be used? Do you withhold drugs and therapies that might prolong life? These are just some of the questions you may have to face. About 20% of infants with RCP do not survive the first few weeks of life, usually because of respiratory problems. Growth and Feeding: Birthweight is generally between 4 and 8 pounds. The average birthweight is 6 lbs. 10 oz. (range 4 lbs. 11 oz. to 8 lbs. 5 oz.), but babies with RCP soon virtually stop growing and remain near their birthweight for the first year of life. Many infants are additionally diagnosed with "failure to thrive" (small size due to inadequate nutritional intake) but their small size is simply part of the disorder. Respiratory Function: Some babies with RCP may suffer from respiratory problems such as upper respiratory infections, pneumonia, aspiration (inhaling liquids or solids into the lungs), and apnea. Apnea (forgetting to breath) is most common in infancy, although some children continue to display apnea throughout their lives. Apneic spells vary in duration. For some children, slight stimulation is sufficient to induce breathing. For others, cardio-pulminary resuscitation (CPR) may be required to restore breathing. Pneumonias and upper respiratory infections are most frequent, while aspirations are also fairly common. Temperature: Infants with RCP often seem to perspire easily and may overheat. They may be more comfortable in loose fitting clothing and light bed clothes. RCP children have problems with temperature regulation, most commonly sweating even when the air temperature is cold, as well as unexplained fevers. Any new onset of sweating associated with crying, eating or movement may reflect heart or lung problems and should be evaluated by your child's physician. Eyes: Almost all babies with RCP are either born with cataracts (white, opaque lens of the eye) or they develop within the first few months of life. If it is the family's goal to maximize the child's ability to respond and interact with their environment, cataracts should be surgically removed. Cataract surgery is usually done in the first few months of age, first in one eye and then the other about 2 to 4 weeks later. Perfect vision is never restored, but without the cataracts and with a good pair of glasses and/or contacts, your baby will be more interactive and responsive. {Heather wears contacts} Joints: Babies with RCP have stiff joints (contractures) at birth. These contractures are mostly due to bony restriction, but to some degree also seem to be caused by soft tissue (muscles, ligaments) tightness. Gentle physical therapy can imporve range of motion. Quite a few babies are born with dislocated hips and some have dislocated shoulders. These dislocations are evidently not painful and need not be treated, as treatment will not result in improved function. Orthopedic surgical intervention should be considered only in those instances where hip contractures result either in an inability to sit comfortably or difficulty with perineal hygiene. Other possible problems: A few babies with RCP are born with heart problems, but these usually do not require medical intervention. The most common heart problem in RCP babies is an atrial defect, which is closed off by itself, or mitral valve prolapse. Some babies have had intestinal problems, such as diarrhea or intestinal blockages. {Heather has the heart problems and will have open heart surgery sometime within the next 4 to 5 months} Skin: Many babies with RCP have dry skin and eczema, but this can be treated successfully with lotion or 1% hydrocortisone cream. Some babies may also be overly sensitive to touch. {Some days Heather doesn't like to be touched at all} General Health: Babies with RCP can and should receive immunizations on the usual schedule. Cognitive Abilities: Like the growth of the body, the cognitive abilities of a child with RCP will also develop extremely slow. Although a child with RCP may only learn to babble, he or she will be capable of expressing pleasure and displeasure and most families are able to determine how their child is feeling. {Heather can say mamma, dada, and I "I am trying to teach her how to say I love you"} Respite Care: All parents need time away from the responsibilities of caring for their children. This is especially true for parents of children with disabilities. Although you may feel guilty at first about leaving your child, the ability to take time out for yourself is an itegral part of being able to provide continuing care for your child at home. {I had a really big problem with this one. I did not want to leave Heather for fear that something would happen to her while I was away}. Early Programming: Early intervention services should be available in your state for children with disabilities from birth through 3 years of age. The agency responsible for early intervention services may be the health department, regional center or social services department. If you don't know what agency to contact, check with your pediatrician, hospital, local health department or nearest public school. {Heather was enrolled in a program called First Steps. She received her physical and occupational therapy's through this program. They done wonders for her}. Sleep: Bye three years your child with RCP should be encouraged to sleep through the night, although every child will have his or her own schedule. Sleep disorders may occur and occasionally medical intervention is required to adjust the sleep/wake cycle. {Heather is past three now and still does not sleep through the night}. Seizures: Over 75% of children with RCP develop seizures between 18 months and 5 years of age. The majority of them experience their first seizure before age four. These can be treated by anti-seizure medications. A neurologist may try a few different medications until the best one is found. Each child will respond differently to medication, so what works best for one child is not necessarily what will work best for your child. {This has not happened to Heather so far}. School: Although some parents prefer to keep their child with RCP at home, many parents choose to send their child to school. Federal laws require that children with disabilities receive a "free, appropriate public education." These laws acknowledge that all children can profit from educational intervention and that no child shall be found to be ineligible because of the severity of his or her disability. They may receive physical and/or occupational therapy through their school. {I have preferred to keep Heather at home due to the fact that her ammune system is so low}. Siblings: Meeting the needs of all your children, while not neglecting your own, is one of the challenges facing parents of children with RCP. It is also one of the world's greatest balancing acts. The key to success lies in getting the family to work together. It is not unusual for children to feel ignored or cheated when so much attention is focused on their disabled sibling. However, difficult as the going may sometimes be, it can also be an enriching experience. Older and younger siblings can feel amazing acceptance and love for their brother or sister with RCP. {This is very true. Heather's older sister Amanda loves to help take care of her. Amanda tells everyont that comes around, "Be careful with Heather her bones hurt". She is so protective of Heather}. The most important thing to remember is that no matter what decisions you make for your child with
RCP, always know that you have done the best you can in the situation.
Now comes the hardest part of this page to write. Knowing that someday I will lose my dear Sweet Heather my heart aches just thinking about it. I used to sit around and cry all day about the thought of Heather dying but then one day a thought came to me from out of the blue. I have another child who is perfectly healthy and we are not given these children with a guarantee of how long we get to keep them. Only God knows the time and place of anyone's death. All people have different ways of dealing with illness, death, and grief. This is the way that I choose to deal with what life had dealt to me. Where there used to be hate for what has happened in my life there is more LOVE than I could possibly show. A mother's love is without end. {I Love You My Sweet Heather}
Coping With The Loss Of Your Child There is no cure for RCP. All children with RCP will die, usually before they reach their teens. Parents often live with a chronic anticipatory grief surrounding the potential loss of their child with RCP. Parents often worry about their child's death, how it will happen and whether their child will suffer. Some children may show a definite decline over a 6 to 9 month period where they may experience more feeding problems. Others have no apparent deterioration before they die. Most often death results from respiratory failure and/or pneumonia. Your childs death will be painful to you regardless of how it occurs or how old she or he is at the time. After your child's death, you will feel pain, loneliness and other intense emotions. You will feel extremely sad one moment and full of anger at the "unfairness of it all" the next.
Resources Diagnosis/Treatment: Ask your physician about the genetics center closest to you. A geneticist may be able to discuss the diagnosis and provide you with additional medical information. You may also be put in touch with another family in your area. The LPA (Little People of America) does not deal primarily with lethal disorders. Nevertheless it has a medical advisory board whose members will be more familiar with RCP than will most other physicians. LPA National Headquarters PO Box 9897 Washington, DC 20016 Physicians and other professionals caring for children with RCP who have questions concerning medical management should feel free to contact-- Richard M. Pauli, M.D., Ph.D.
Parent/Support The RCP Family Support Group is headed by a family who has had 3 affected children. A newsletter,booklet, a current list of members, and other resources are available. RCP Family Support Group
The National Organization for Rare Disorders (NORD) makes referrals to parents and support groups, produces a newsletter and provides scientific articles on specific diseases. NORD
Most of the information on this page was taken from a book called: "Rhizomelic Chondrodysplasia Punctata" A Booklet For Families About the authors: Francesca Holland, M.P.H., M.S., Peggy Modaff, M.S., V. Kim Horton, R.N., M.S., and Lisa Glinski, M.S. are all genetic counselors affiliated with the University of Wisconsin, Madison. Richard M. Pauli, M.D., Ph.D. is the director of the Midwest Regional Bone Dysplasia Clinic and is a Professor of Pediatrics and Medical Genetics at the University of Wisconsin-Madison. Becky Brown, R.D., along with her husband, Jim, are coordinators of the RCP Family Support Group. They are also parents of three children with RCP. If you would like a copy of the booklet you can request one to be sent to you by writing to the address below: Midwest Regional Bone Dysplasia Clinic The cost of the booklet is $2.00 including postage for each copy you wish to order.
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