Pyruvate Dehydrogenase Complex Deficiency (PDCD)

Overview:
Pyruvate Dehydrogenase Complex Deficiency results from the deficiency of one or more of the pyruvate complex enzymes. In short, the body can no longer effectively metabolize carbohydrates and as a result the body’s ability to produce enough energy to run it’s systems is interrupted.

Symptoms:
The severity of symptoms vary widely from person to person but often include:

• Low muscle tone


• Irregular eye movements


• Seizures


• Poor head control


• Lack of energy


• Developmental Delays


• Complications of normal childhood illnesses


• High lactate


• Acidosis

Testing/Diagnosis:
PDCD is normally diagnosed via muscle or skin biopsy. Genetic (DNA) testing is also sometimes recommended because occasionally, a single biopsy won’t show the deficiency.

Treatment:
Currently there is no cure for PDCD however the Ketogenic diet has improved the quality of life of many patients. Vitamin B1 is also recommended.

Resources:
You can find our support group on Facebook if you search PDCD Parents and Friends.

More information on PDCD:
Genetics Home Reference
United Mitochondrial Disease Foundation

Personal Story:
My husband, two sons and I welcomed our third son, Gavin, into our family in late summer of 2009. At first, Gavin seemed as healthy as our other two children although he was a little smaller. Within two weeks however, Gavin was rushed to the hospital by ambulance because he was having a hard time breathing. I had no idea the road we were in store for.

Upon arriving at the hospital Gavin was discovered to be acidotic (too much acid in the blood). After some further tests and observation Gavin was transported to Nationwide Children’s in Columbus with suspicion that he had a metabolic disorder. There, we met our metabolic team of Geneticists, Nurses and a Dietician who would later become like an extended family to us during our stays at the hospital.

It took a few months for the tests to come back but it was confirmed that Gavin suffered from a very rare metabolic disorder called Pyruvate Dehydrogenase Complex Deficiency (PDCD). PDCD is a genetic, neurodegenerative disorder which interrupts the body from correctly metabolizing carbohydrates. There is no cure for this disorder but in some cases it can be managed with the Ketogenic (high fat, low carb) Diet.

At the time Gavin was diagnosed, he had mild motor delays which was pretty good considering that the disorder can affect boys pretty severely. In fact, many boys don’t live for more than a few years. Our doctors however, were optimistic and hopeful because Gavin was presenting fairly well and some tests had come back indicating that Gavin was mosaic, meaning some cells in Gavin’s body were functioning perfectly fine. We were still given an emergency letter with instructions for any doctor that may be treating Gavin. We were also told when to take him to the hospital and were warned that the slightest childhood illnesses could become life threatening very quickly.

We learned how quickly the following month. Gavin was sick with a fever and was breathing a little faster. We took him to the ER and gave them the ER letter, all the time thinking he didn’t look any sicker than any other baby with a fever. Within an hour of arriving at the hospital, Gavin suffered from respiratory failure. He had to be intubated and flown to Nationwide where he was treated and released a week later. To make matters worse the same thing happened again two weeks later. At that point, we realized how fragile our seemingly normal child was.

Through all of this, Gavin recovered just fine and he continued to develop at a regular pace slightly behind his peers. However, in the summer of 2010, just when Gavin was starting to sit up on his own and roll to go where he wanted, he suffered a major setback. He once again became acidotic but this time when Gavin woke up, something was different. He was really floppy and wasn’t responding like he normally did. An MRI later confirmed that he had suffered some injuries to different areas of his brain. Gavin slowly came around. He started smiling and cooing again but he continued to have difficulty with seemingly simple motor skills, like holding up his head. This was a hard time for all of us but it was a turning point as well. We began to learn to appreciate what Gavin could do instead of focusing on what he couldn’t. Each smile became priceless and each new skill was something to truly celebrate.

In the months that followed, Gavin continued to recover, slowly regaining some motor control. What loomed around the corner continued to haunt us, although we tried our best to focus on the present. Cold and flu season soon caught up to us though and Gavin became feverish once again. This time, Gavin did well with the fever but his respiratory infection caused complications. Due to his hypotonia (low muscle tone), he couldn’t cough well enough to clear his secretions and developed pneumonia. He needed breathing support and we went along with the Doctors’ advice and made arrangements for Gavin to have a tracheostomy. Soon afterward Gavin was back to his happy self, smiling upon seeing people he recognized and loving games like peek a boo. About a month after his surgery Gavin came home and life and we began to develop our new normal. Today, Gavin enjoys reading books and watching his brothers play. He’s an avid lover of Nick Jr. and attends preschool with his nurse a couple times a week.

What a road this has been so far! Less traveled, and not the one we expected to take, but I can say that I’ve learned alot! I’d be lying if I said that I wouldn’t change a thing but I am grateful for what I’ve learned to appreciate and I’m thankful for the people we’ve met. I’m not sure where our road will take us but I know that as a family we can handle the things that life throws our way and we’ll cherish everyday we have together.

Contributed by MOM Michelle King

Muckle Wells Syndrome

Overview:
Our little girl, Skyelah, was born with a rare disease that I had to keep pushing for answers & finally got an appointment at the NIH by the time she was 7 months old.

Symptoms:
spots, low grade fever, reflux

Testing/Diagnosis:
Arkansas Children’s Hospital, NIH

Treatment:
Anakinra, Ilaris

Resources:
National Institutes of Health, NORD, Rare Disease, Nomid Alliance

Personal Story:
I try to connect people to the right info after feeling helpless & alone when we couldn’t find answers for our baby. I was persistent even when Dr.’s said I was just overprotective & she’d outgrow whatever it was. You could tell she didn’t feel good & some days her spots were so bad we wouldn’t leave the house to avoid explaining. My biggest fear was the time going by would cause permanent damage & not knowing if she was dying. No one (in Arkansas), her Pediatrician, nor the specialist at Children’s Hospital, had a clue what was wrong with her. In fact, she has a scar from them doing a biopsy, thinking it was allergies. Once we flew out to Maryland & they tested her for a week, they clinically diagnosed her because her genetic mutation did not show up until they had it sent off for further testing. As soon as they gave her the first shot of daily medicine, Anakinra, her true self began shining for the first time since she was born. They changed her meds about a year later from daily to once every other month, Ilaris. Both of these meds are extremely expensive which has insurance scares that play a role in her future care. We continue to travel out to the NIH yearly for her testing where we see some slight changes in her physical functions each time.

Contributed by MOM Angela Rudd

For more information click HERE

Traumatic Brain Injury

Overview:
My daughter was born healthy and normal. She suffered a traumatic brain injury at 2 1/2 years old, we still do not know exactly what happened that day.

Symptoms:
She is now unable to speak, walk or even sit up on her own. She has partial paralysis on the entire right side of her body.

Testing/Diagnosis:
She is diagnosed with Hemiparesis, a type of cerebral palsy, and epilepsy.

Treatment:
The only treatment we are allowed through insurance is physical,occupational and speech therapy. She wears braces on her feet to help keep the muscles in her ankles tightening and were working to get her a brace for her right hand. She also takes medication for seizures and medication to help keep her muscles relaxed.

Resources:
https://www.facebook.com/groups/ParentsofChildrenwithBrainInjuries/

http://www.biausa.org/

http://www.neurorestorative.com/locations/illinois/carbondale

http://lahoodcenterforcp.com/index.html

Personal Story:
The date was September 13, 2012. Kylie was 2 1/2 years old and was being babysat while I was at work. I often went to pick up my sister from work before picking up Kylie as Kylie was being watched at her home. On the way I got the worst phone call any parent could ever want. Kylie had reportedly fallen off the deck and was unresponsive. The ambulance was on it's way. Approaching the turn to my sister's house I could see the ambulance coming up the road. That was my baby in there... I followed as fast as I could, arriving only minutes behind the ambulance. When I entered the ER I demanded to see Kylie, I wasn't going to answer any of their questions or fill out any paperwork. They took my into the room she was at and told me to sit in a chair in the corner. I couldn't see Kylie. There were too many doctors and nurses surrounding her. Kylie was admitted with a glasgow coma scale of, I believe, 3 which is about the lowest you can get and still be alive. She would not open her eyes, she made no sounds and barely responded to painful stimuli. I only got to sit there a couple minutes before they ushered me into a private waiting room. It seemed like I was there for hours. Kylie was in the ER for an hour and a half. The police came asking me stupid questions like where I worked. The only thing I was concerned about was what was wrong with my baby. It felt like I was in a dream. They told me she would have to be taken to a different hospital 2 hours away and that she would be taken via LifeFlight (helicopter) I was finally able to get a hold of Kylie's dad and he rushed to the hospital as soon as he could. They let me see Kylie before she was taken on the helicopter. She was intubated and unconscious. Kylie's dad arrived just in time to see the helicopter lift off. We made the 2 hour drive down to Children's Hospital of Illinois. About 10 minutes before we arrived I got a phone call telling me she was being taken into emergency surgery. Thank god they didn't wait for us to arrive. We waited again for what seemed like hours before someone came and told us about the surgery and Kylie's condition. Kylie had suffered massive head trauma and her brain was swelling so much that it was trying to move down into the back of her neck. Kylie had suffered a subdural hematoma along with bleeding in her brain. They had to remove a portion of Kylie's skull to allow the brain more room to swell and they had to remove blood clots that had formed in her brain. They told us this was something Kylie would never recover from. That the little girl we knew was gone. Kylie was taken to the pediatric critical care unit after surgery where we waited again for something like 5 hours before she was stable enough for us to see her. Waking into the room was heartbreaking. Her little head was so swollen and she was still intubated, unable to breathe on her own. She had multiple IVs in both her arms and legs. She didn't look anything like my little girl. They had a wire surgically placed in Kylie's brain to monitor the pressure and swelling inside. It took almost a week before Kylie opened her eyes, but she was absent. There wasn't anything left of the little girl I once knew. It was hard to tell how aware she was of anything. She had moments where her heart rate would skyrocket to almost 200bpm. She was given medicine to help her relax. They put a PICC line in her arm, which is basically a multi port IV that runs in her arm and stops at a point near her heart. Kylie's doctors on multiple occasions spoke to us about "being prepared for her to not recover" and what our options were. I would usually walk out on them when they began trying to talk about that. They also spoke of her probably needing a tracheostomy. A tracheostomy is a surgical procedure to create an opening through the neck into the trachea (windpipe) to provide an airway. They never thought she would be able to breathe on her own again. About a week into our stay, one of Kylie's nurses thought she witnessed Kylie have a seizure. Although Kylie didn't move her pupils were moving in a repetitive motion leading the nurse to think it was something like an absent seizure. They wanted to put the bone they had removed back in Kylie's head at this point but needed to do an EEG to check for seizure activity before they could. Everything went well with the procedure and the bone went back in. About a week and a half after being admitted to CHOI Kylie was still intubated but was initiating breaths on her own and the doctors attempted to take the breathing tube out. I waited in the back of the room, hardly seeing a thing as the doctors surrounded her expecting to have to put the breathing tube back in. I think I stopped breathing for 5 minutes while they pulled the tube out. They had to use the oxygen bag to help her start breathing and put her on a a very high concentration of nasal oxygen, but she did it. She was breathing on her own. As Kylie became more stable she was gradually moved to different wards of the hospital. From Peds ICU to intermediate care and finally general pediatrics. Although Kylie was more stable she was still completely absent. Sleeping most of the time, she never moved or made a single sound. It was discovered when Kylie was moved to intermediate peds that she had developed a bed sore on the back of her head about the size of a quarter. After Kylie was weened off the nasal oxygen she was given a tube placed in her nose and down to her stomach to start feeding her. Kylie didn't do so well with that. She threw up many times and often dislodged the tube and forcing them to replace it. Kylie also began to accumulate large amounts of fluid between her skull and skin where they had removed and replaced the bone. They surgeon spoke to us about possibly having a shunt placed to remove the fluid if it continued to build. He came in daily and attached a large syringe to a needle and drew the fluid from her head. After about a week of this, the fluid was gone and Kylie did not need a shunt placed. Kylie was observed to have multiple seizures while in intermediate care. There was one day she must have had 10 or more. Luckily only lasting a min or so. Kylie was placed on an anti-convulsive medication and we didn't see any more seizures. Kylie was then determined to be stable enough to move to general pediatrics and she got her first bath since her head injury and I finally got to hold her. The hospital had done hearing and vision tests on Kylie, to the best of their ability. It was determined that the parts of Kylie's brain responsible for sending this information were functioning as they should be but there was no way of knowing how Kylie's brain was interpreting the information. In preparing to go home, it was decided that Kylie would have a G-tube placed in her stomach for feeding her liquid nutrition. I was very concerned about a surgery in which Kylie would need to be intubated again, but she did great and was breathing on her own immediately after the surgery. Kylie was in the hospital for 47 days following her brain injury. She came home the day before Halloween.

Contributed by MOM Stephanie Bradford

For more information click HERE

Spinal muscular Atrophy (SMA)

Overview:
Spinal Muscular Atrophy (SMA) is a motor neuron disease. The motor neurons affect the voluntary muscles that are used for activities such as crawling, walking, head and neck control, and swallowing. It is a relatively common “rare disorder”: approximately 1 in 6000 babies born are affected, and about 1 in 40 people are genetic carriers.

Spinal Muscular Atrophy (SMA) refers to a group of inherited diseases of the motor nerves that cause muscle weakness and atrophy (wasting). The motor nerves arise from the spinal cord and control the muscles that are used for activities such as breathing, crawling, walking, head and neck control, and swallowing. SMA is a rare disorder occurring in approximately 8 out of every 100,000 live births, and affecting approximately 1 out of every 6,000 to 10,000 individuals worldwide.

SMA affects muscles throughout the body. In the most common types, weakness in the legs is generally greater than in the arms. Sometimes feeding, swallowing, and respiratory function (e.g., breathing, coughing, and clearing secretions) can be affected. When the muscles used for breathing and coughing are affected and weakened, this can lead to an increased risk for pneumonia and other respiratory infections, as well as breathing difficulty during sleep. The brain’s cognitive functions and the ability to feel objects and pain are not affected. People with SMA are generally grouped into one of four types (I, II, III, IV) based on their highest level of motor function or ability.

Symptoms:
Infants with SMA type I are born with very little muscle tone, weak muscles, and feeding and breathing problems.
With SMA type II, symptoms may not appear until age 6 months to 2 years.
Type III SMA is a milder disease that starts in childhood or adolescence and slowly gets worse.
Type IV is even milder, with weakness starting in adulthood.
Often, weakness is first felt in the shoulder and leg muscles. Weakness gets worse over time and eventually becomes severe.

Symptoms in an infant:

Breathing difficulty, leading to a lack of oxygen
Feeding difficulty (food may go into the windpipe instead of the stomach)
Floppy infant (poor muscle tone)
Lack of head control
Little movement
Weakness that gets worse

Symptoms in a child:

Frequent, increasingly severe respiratory infections
Nasal speech
Posture that gets worse
Scoliosis

Testing/Diagnosis:
The first steps in diagnosis of a neuromuscular disease are usually an in-office physical examination and family history, with some simple tests to distinguish spinal muscular atrophy (SMA) from similar conditions (such as muscular dystrophy).

The doctor may order a blood test for an enzyme called creatine kinase (CK), an enzyme that leaks out of muscles that are deteriorating. This is a nonspecific test because CK levels are elevated in many neuromuscular diseases, but it’s often useful anyway. High blood CK levels aren’t harmful in and of themselves, but they do indicate that muscle damage has occurred.

The doctor probably will recommend genetic testing if SMA is suspected, because this is the least invasive and most accurate way to diagnose chromosome 5-related SMA (types 1-4). Genetic testing requires only a blood sample. However, it has implications for the whole family that must be considered (see Causes/Inheritance).

Genetic tests are available for chromosome 5-related SMA and for some of the other forms of SMA. See Athena Diagnostics, a Massachusetts company that offers genetic testing for many neuromuscular diseases, including SMA; and Gene Tests, a website supported by the National Center for Biotechnology Information and sponsored by the University of Washington-Seattle, that lists available genetic tests.

Reliability and specificity of genetic tests are improving, and the number of tests available is expanding rapidly as knowledge and technology improve. For more on getting a definitive genetic diagnosis, see The Genie’s Out of the Bottle: Genetic testing in the 21st century. Your MDA clinic team can guide you toward the right type of genetic testing for your situation.

In rare cases, doctors may order a muscle biopsy, which involves taking a small sample of muscle tissue, usually from the thigh, and looking at it under a microscope.

Other tests sometimes used to diagnose SMA include one that measures nerve conduction velocity — the speed with which signals travel along nerves — and one that measures the electrical activity in muscle, called an electromyogram, or EMG. Nerve conduction velocity tests involve sensations that feel like mild electric shocks, and EMGs require that short needles be inserted in the muscles.

Treatment:
There is no cure for SMA. Treatment consists of managing the symptoms and preventing complications.

Resources:
Fsma.org

Personal Story:
My son, Brayden was diagnosed with Spinal Miscular Atrophy on September 6, 2013! When he was 15 months we began to realize something was wrong! He never began to walk! He never even tried! We would stand him up with help and he just wouldn’t go! We underwent multiples of testing! Blood work after blood work! Everything came back fine! He became sick in march of 2013 and ended up in the hospital for dehydration and ended up leaving with a feeding tube! He was on it for about 2 weeks and showed improvement! But there was still something wrong! At 20 months, his pediatrician desided to send him to Siskins for developmental delay! I expressed some further concerns with this pt who thought it be best to see a neurologist who then recommended testing for SMA! The one test we never wanted to be positive! We were so crushed and in shock, but have somehow managed to get through it and come out stronger than we ever imagined! Brayden is a type 2! Although unable to walk, he is pretty strong! He is able to sit unsupported, able to crawl, and can cruise some along the couch, but is getting to where he can’t do that as much! He is healthy otherwise and we thank God each and everyday for our wonderful little boy!

Contributed by MOM Kristen Hobbs

Dandy-Walker Syndrome

Overview:
Dandy-Walker Syndrome (DWS) is a congenital brain malformation involving the cerebellum and the fluid filled spaces around it. A main feature of this syndrome is the partial or even complete absence of the part of the brain located between the two cerebellar hemispheres. DWS is a genetically sporadic disorder that occurs one in every 30,000 live births. It is also associated with Hydrocephalus.

Symptoms:
Dandy-Walker Syndrome (DWS) is a congenital brain malformation involving the cerebellum and the fluid filled spaces around it. A main feature of this syndrome is the partial or even complete absence of the part of the brain located between the two cerebellar hemispheres. DWS is a genetically sporadic disorder that occurs one in every 30,000 live births. It is also associated with Hydrocephalus.

slower motor development and progressive enlargement of the skull. increased intracranial pressure also causes symptoms such as irritability, vomiting and convulsions and signs of cerebellar dysfunction such as unsteadiness and lack of muscle coordination or jerky movements of the eyes may occur. Other symptoms include increased head circumference, bulging at the back of the skull, problems with the nerves that control the eyes, face and neck, and abnormal breathing patterns.

Testing/Diagnosis:
Prenatal diagnosis is possible with ultrasound. Because the syndrome is associated with an increased risk for fetal karyotype abnormalities, amniocentesis can be offered after prenatal diagnosis. MRI and CT scans aswell as genetic testing.

Treatment:
Treatment for individuals with Dandy–Walker Syndrome generally consists of a shunt to reduce intracranial pressure, it is placed inside the skull to control swelling. Endoscopic third ventriculostomy is also an option. Treatment may also consist of various therapies such as occupational therapy, physiotherapy, speech therapy or specialized education. Services of a vision teacher may be helpful if the eyes are affected.

Resources:
Www.Dandy-walker.org

Personal Story:
When I was pregnant I had my first ultrasound at 21 weeks, they couldn't determine the sex, and they had to have the doctor come and re-look at the brain. There was a mass of fluid in the back and they told me it was most likely spina bifida and that they couldn't tell me a positive answer unless i went through for more testing. I knew , regardless of what the condition was, God made my child PERFECT in his image & had a true purpose for this and didn't accept further testing & the genetic counselor and doctors recommended an abortion. I don't think I've ever cried so much, they made me feel so horrible and that my child wasn't going to walk or talk, basically not do anything. I decided to change my OB/GYN and get a second opinion at a different hospital and i went to Tufts Medical Center in Boston. There they did an ultrasound and said we see the fluid , and it is what we call a Dandy-Walker Syndrome (DWS). Finally after 3 months of ultrasounds at the previous hospital , I have a name/condition to what they found! They told me basically not to be afraid, it varies WIDELY ! there are some children who suffer greatly and others who have no signs or symptoms other then headaches and nausea. They told me it is basically something we have to take day by day through his life. I delivered my baby at 36 weeks & 4 days, on April 9th 2013 @ 2:53am at Melrose-Wakefield Hospital to a beautiful baby boy my husband and I named, Yael (Ya – as in yacht; el – as in the letter L ) Jeremiah. His name in Israel means, God's Strength. At birth my son was taken to the NICU and 12 hours later was transported to Tufts Medical Center. My son was born with a list of things we would have to follow up with, he had Jaundice, his blood platelet counts kept dropping ( which we found out our bloods platelets are different and i create very rare antibodies that attacked him- NAIT) , he had a Coarctation of Aorta, Hypospadias, He Had A Hemorrhage of the brain and lastly it was certain Yael had DWV. The first few days were so hard, because my son was faced with SO MUCH! it wasn't just this one thing. after 2 weeks, my son was discharged from the NICU & came home. He had an emergency shunt placed on September 9th, 2013 because he also developed hydrocephalus. He is such a miracle and has proven every negative thing against him wrong. he is developmentally on track and he isn't behind at all. its still early and i know my son is still a baby, but doctors told me he wont even talk, walk, they basically considered him brain dead & My son truly showed me , that doctors ARE NOT GOD ! there are still so many unanswered questions when it comes to science & to the brain. We just learned to have hope, don't doubt anything. Have faith even if it is as small as a mustard seed, the possibilities are endless. I'm dedicated to raising awareness for these conditions and start something in the Boston Area, because there isn't anything for DWS & hydrocephalus. I will keep updating on my sons progress, cause i know he is going to go beyond what doctors think! God Bless everyone!

Contributed by MOM Brittany Argueta

For more information click HERE

Loeys-Dietz Syndrome

Overview:
LDS is a rare congenital connective tissue disorder. Only about 500 people world wide have been diagnosed. It affects every body part in some way. The most critical effect is on the heart, mainly the aortic root. In patients with LDS, the aortic root expands to the point of rupture, often leading to death, especially in people who have gone undiagnosed. LDS also causes aneurysms, ruptures, and tortuous vessels throughout the body. It affects bones, joints, the GI system, the central nervous system, the lungs. With proper care and maintenance testing, it is a manageable life-long condition. However, the danger of a catastrophic event happening is always present, regardless of how proactive an LDS patient is.

Symptoms:
Aneurysms, arterial tortuosity, scoliosis, kyphosis, flat feet, bifid uvula, cleft palate, craniostenosis,joint laxity, cervical spine instability, pectis excavatum or carinatum, osteoarthritis, contractures of the fingers, club foot, hernias, soft velvety skin, easy bruising, rupture of organs, congenital heart defects.

Testing/Diagnosis:
Genrtic testing when physical symptoms are noted.

Treatment:
No cure. There is no one treatment for the disease. Because it causes different ailments throughout the body, each ailment can be treated accordingly. The blood pressure medication Losartan is recommended for all LDS patients as a drug that can help slow the dilation of the aortic root and help prevent spontaneous rupture.

Resources:
Loeysdietz.org

Personal Story:
I found out that I had LDS when I was pregnant with my son, Bodhi. At that time, at 20 weeks along, doctors told me to terminate my pregnancy. It was too unsafe for me to carry and they were concerned I would have an aortic dissection or uterine rupture. My husband and I made the easiest and most difficult decision of our lives to give our baby a chance. The pregnancy was a scary ride, but we were relieved that I made it through when our baby boy was born 6 weeks early. Unfortunately, I had passed LDS on to him and he was born with a long list of his own problems. He spent the first 6 weeks of his life in the NICU. Then I went immediately into the hospital for my aortic root repair. I had made it through the pregnancy, but my aorta would not hold out much longer. At first the surgery was considered a success, but that night something went horribly wrong and I went into cardiac arrest. I died for 5 minutes before the doctors were able to revive me and take me back for an emergency coronary artery bypass. I spent the next two weeks in a coma and woke up thinking it was the next day after my original surgery. I was still intubated and very confused, then devastated when I was finally told what happened. I spent an entire month in the hospital missing my newborn son, and another two years before being fully recovered. Today, Bodhi and I live LDS every single day. Our daily lives are a struggle, but he keeps me smiling. He has a g-tube, and at the age of four, has several surgeries and medical procedures under his belt already. I deal with chronic pain and fatigue, along with a long list of medical issues. My little guy keeps me going though. If he can do it, so can I. He always gives me a reason to fight harder… And it’s because of him that I’ll never stop.

Contributed by MOM Bodhi Swindle

Dopamine Deficiency

Overview:
The chemical dopamine is produced naturally in the body and functions as a neurotransmitter, playing a role in the pleasure and reward pathway of the brain as well as in memory and motor control. When dopamine levels fall low symptoms such as depression, mood swings, poor attention and food cravings can occur.

Symptoms:
Low muscle tone, weakness

Testing/Diagnosis:
Extensive testing

Treatment:
Drugs normally prescribed for Parkinsons Disease

Resources:
Tgen Center for Rare Childhood Disorders

Personal Story:
[embedyt]http://www.youtube.com/watch?v=3Su0FchniqE[/embedyt]
Shelby spent the first 10 years of her life in a wheelchair before discovering her brain was not producing Dopamine. After researchers at Tgen decoded her DNA, they were able to put her on a treatment plan. She has been wheelchair free for over three years.

Contributed by MOM Renee Valint

For more information click HERE