Caden’s Story (MADD/GA 2)
On July 13, 1998, Michael Caden Richards was lucky to have been born to the most persistent parents ever! Immediately after his birth, we recognized an array of abnormalities. He was a full-term baby weighing in at 5 lb 12 oz. His skin was golden-yellow, very loose and wrinkly and he had very little fat under his skin. He seemed to be unusually hungry all of the time and his left foot was turnedin very badly. Even though we were concerned, the staff didn’t seem too concerned with his appearance. I had also just endured a brush with death as a result of pre-eclampsia and felt like we were just lucky to be alive.
Three years later, we found out that he had been treated for hypoglycemia while in the nursery. We were never made aware of this! The nightmare began when we came home with our little, now 5 lb 9 oz package. Caden was an inconsolable baby and many times we resorted to giving him pain medication, unsure what was wrong. We thought it might be belly pain from the extreme amount of bottles he was drinking. Naturally, we complained to his Nurse Practitioner (NP) about this and was assured we were making too much of his crying. Finally, we got some lab work done. His labs were showing that he was in complete kidney failure!
A few days later they were redone and his kidneys showed NO sign of failure but he did have a left sided hydronephrosis, in which they attributed his crying to possible pain from the kidney holding urine. Weeks turned into months and his symptoms were increasing. It was ear infection after another, which resulted in surgery for bilateral tubes in ears. His system was in constant chaos. Some of his unexplained symptoms were: loss of weight, projectile vomiting, gastroenteritis, hypotonia, upper respiratory infections, periodic loss of appetite, pale with dark circles under his eyes, thrush, polydipsia & polyuria, malaise, extreme irritability, insomnia, dysuria, dehydration and oily/clay colored stools. When he turned 9 months old, it was obvious that the left side of his face was different ~ the area from under his eye downward had fallen and the left side of his mouth and neck had no muscle function. He was immediately sent for an MRI, which was normal. It was racked up to be some sort of facial paralysis, and then dismissed. It is barely visible now but when he cries, you can still see the asymmetry in his mouth. Other than that, he has made a remarkable recovery from “something.”
In February 2000, when Caden was 19 months old, he started showing signs of being uncoordinated. We took him to the ER and they did a finger stick for blood glucose and got a reading of 206. Later, they drew blood and naturally, it was normal! They explained how inaccurate blood glucose machines were and so on, but we were still going to keep an eye on his blood sugar.
In October of 2000, at 27 months, he woke up one morning staggering and shaking badly after running a fever the night before. His blood sugar was 31! I thought it must have been an error and checked 3 times. I gave him popsicles and soda. It was now 292 when we left for the clinic and stayed high for quite some time. According to their meter it was still at 245 and confirmed by the lab. There after, he had so many high and low blood sugars that I was afraid to go to sleep at night. He had a 26 and 260 in one day, documented at the Clinic. I don’t know if it was out of frustration or pure disbelief, but his NP who had taken care of him since birth, flat out told me that he was just fine. Nothing was wrong and it was very normal for his blood sugar to be 31 or 245! She suggested that we stop checking his blood sugar and for me to get some psychiatric counseling! I left and never went back.
How could I? He was going to die unless I kept looking for answers! There was only one other Dr’s office in town. We had our first visit and presented our case with no problem. His blood sugar issues were of great concern as well as his severe leg pain. His new pediatrician had a bone scan ordered, after I asked him. It was normal. The leg pains started very early on, even before he could talk, because his body language told us so. He also started having some “spells.” He would become delirious and unresponsive. You guessed it ~ they were dismissed as Growing Pains!
In January 2001, when Caden was 30 months old, I found an endocrinologist on my own. After our first visit, we received a diagnosis of early Type I Diabetes. We were told to keep an eye on his blood sugar to prevent ketoacidosis. This endocrinologist basically took the easy way out. He based Caden’s diagnosis on a handful of facts ~ one being a sister with diabetes and occasional hyperglycemia ~ and even though, his HBA1C was an average of 65! HBA1C gives you the average blood sugar for a 3-month period. He said that his pancreas was failing and this was all part of how type I diabetes evolved. His explanations did sound really good. After a month of blood sugar monitoring, and a really bad illness-related high blood sugar of 496, he was started on ½ unit of humalog in the mornings. This did not go over too well. He would drop too low after the shot. He wouldn’t get hypoglycemic but hit the 60-mark and it made me very nervous. I opted to stop the insulin injections myself, even though the endocrinologist did not agree. Insulin could have killed our son!
Following several ER visits with low blood sugars in the 30s and 40s, we were told that we were welcome to get a second opinion. We decided to do so. All the while, his new pediatrician was forming his own opinions without my knowledge. In May 2001, when Caden was 34 months old, he was admitted to a Children’s Hospital in a near-by state in the endocrinology dept for a work-up to rule out diabetes. We stayed for 5 days and Caden did quite well. He was not sick (virus, cold etc), nothing to influence his numbers. He had limited activity and very structured meals. Yet the day before he was admitted, he was jerking due to a blood sugar level of 64. A blood sugar level of 64 is not medically considered hypoglycemic. Our main argument was Numbers. We were told that 60 was not low and there’s no way his symptoms could be blood sugar related, when his numbers were this high. Our son felt terrible at 75. Why? We KNEW that even though his numbers were within THEIR idea of normal he was still experiencing serious symptoms!
Before we left, we met with the endocrinologist and his colleague. They basically took us behind closed doors and ‘laughed in our faces’! We were sent home even more disgusted than before. Our child had just endured almost a week of torture: 5 IVs, numerous finger sticks and starved him for nearly a whole day, for NOTHING! According to medical records, prior to Caden’s evaluation, they had already interviewed his former NP and current pediatrician, both of which helped entertain the diagnosis of Munchausen Syndrome by Proxy! Needless to say, we were very upset and sick to our stomachs that we were being accused of child abuse, for trying to help our sick child! It is the most sickening feeling I have ever had in my life and will never get over the hurt and betrayal. I had lost faith in the medical system. I knew there were good physicians out there. I just found it hard to believe that we would ever find one.
By the grace of God, a desperate mother looking for her own daughter’s diagnosis, found Caden’s old web page on the Children with Diabetes website. She emailed me to let me know about the similarities in our children and that they were heading to Mayo. She promised to let me know what she learned. She sent me a lot of great information and the FOD website address. After reading the FOD information, I immediately signed up for their Email List. I knew I had found my son’s diagnosis! We went back to the Children’s Hospital for our follow up a few weeks later for the remaining test results and to discuss the MSBP suspicion. I was armed with information about FODs. I had proof that there were other things (besides Diabetes) that could cause my son’s symptoms.
The endocrinologist even told me that there was NOTHING else that could be causing these intermittent symptoms. Nothing! For every accusation of MSBP, I had an explanation. Symptoms of a FOD can and do “wax and wane.” They can be associated with high and low blood sugars and more importantly, could account for each one of Caden’s unexplained symptoms. He did not deny the possibility of a Fatty Acid Oxidation Disorder but strongly discouraged further workup. He finally agreed to send Caden to the Genetics Department to meet with the Head Biochemical Geneticist. Once again, we were spoken to as if we were ‘mere idiots.’ After meeting for only 15 minutes, she made us sound more unstable than ever! She read over his prior reports and again formed an opinion based on other’s opinions.
Reluctantly, she agreed to do an Acylcarnitine Profile. In reading her summary of our visit, she said that there were NO real low blood sugars documented (There were); NO way that High blood sugars were associated with FODs, (They are) and his “whining” for food was NOT associated with blood sugar levels! (It was and is). She also stated in the summary that she only did the Profile test to “put the issue to rest!” She said that she expected it to be perfectly normal.
In October 2001, we moved 40 minutes away to my husband’s hometown, where he was opening his new business. We met with a new pediatrician who seemed to be laid back but…nothing outstanding…he would do. We filled him in on all of the happenings and he agreed to continue with his care. Following our move, we suspected that Caden’s old pediatrician called Social Services, because he told us he would if we switched Drs! Long story short, Social Services had their medical team review Caden’s labs and found no evidence of any abuse but overwhelming evidence of a sick child!
[Note from Deb: Over the years I have heard of and spoken with SO many FOD and/or mito-related moms trying to find help for their children (presenting with a variety of symptoms) accused of munchausen by proxy. It is DISGUSTING what these families have been put through ~ especially by some unethical professionals that have never even SEEN their child and based an opinion ONLY on past medical records and admittances to ERs! These Families have gone through hell to FINALLY get a diagnosis and even with a DOCUMENTED FOD and/or MITO DIAGNOSIS that accusation is still kept in their files and NOTHING is done to the accuser (i.e. lose medical license, etc)! SOMETHING IS DEFINTELY WRONG WITH THAT! Hopefully some day our Families will be LISTENED TO FROM THE BEGINNING and their children helped SOONER…and WITHOUT being accused of abuse! DLG]
It had been 3 months since we saw the geneticist and our neurology appointment was coming up. We wanted to know the results of the Acylcarnitine Profile. I put in a call to the geneticist who was “putting this issue to rest.” She returned my call with a scorn in her voice like no other I have ever heard. She kept insisting that he only had a “Red Flag” and that it meant nothing.
When we went in for Caden’s neurology appointment, the neurologist ordered the results from the lab and there it was ~ a significantly abnormal Acylcarnitine Profile that suggested MADD or GA 2.The neurologist noted several abnormalities, from hypotonia to hyporeflexia, and hypermobile joints with loose ligaments, along with other distinctive abnormalities, including labs from his endocrinology work up. This was the very first doctor who took an interest in our son. She listened to us carefully and did NOT form an opinion based on other reports. From then on, the work up began, as she felt he could have an FOD. He had a muscle and skin biopsy per her request. After waiting for what seemed like forever, we learned that his skin cells also suggested MADD/GA 2. We decided to go on to seek one other opinion, since we had proven there was an abnormality and we had at least one Dr on our side. It was also a huge hassle to even go to this hospital where our son’s wonderful neurologist was, due to the heat the other two doctors caused us.
Before we could get to our second opinion, Caden got very sick. He had eaten peanuts and a hot dog. We had no idea that he was eating a deadly combination of foods for him (fat and protein). On Jan 27, 2002, he woke up at 3am with nonstop vomiting. By the time we got him to the hospital, he was very dehydrated. His heart rate was 190. He was so lethargic and here we were trying to tell the ER staff what we “thought” was wrong with him. His neurologist coordinated that hospital visit. She made sure he got the D10 IV and so on. After he was discharged, he started having some stomach pains that were getting much worse by the hour. It was January 29 when we met with a wonderful geneticist. He was very compassionate and understanding. He laid it out to us plain and simple in terms we could understand. We learned a lot about what it could be, but still no definite answers. He had a thorough physical exam and blood work. We learned about his carnitine deficiency, and he had an abnormal urine acylglycine test, which also suggested GA 2.
Caden was still not recovering from the stomach pains. They became much more severe. We took him to his new pediatrician and he told us to give him Maalox. He assured us that kids typically have belly pain for at least a week after throwing up. We gave him Maalox for a week. Caden had endured all he could by the second week and lays on our kitchen floor in pain. We immediately picked him up and took him to the largest, nearby hospital.
It was determined that his intestines were swollen and they admitted him at once. He was on IV D10 and L-Carnitine for days. Caden wound up having a seizure-like episode and hypoglycemic spell after they took him off the D10 for an MRI. After a week of no answers, we asked to be discharged. We could give him Tylenol at home. That’s all they were doing. We continued his oral Carnitor at home from this point on. The Pediatrician in charge told us that we might just have to live with his stomach pain! This was not acceptable!
I still knew in my heart that my son had an FOD. At the end of February 2002, Caden is 3 yrs 7 months old. He was still sick with stomach pain. He had now developed a high fever and vomiting large amounts. We took him to Children’s the next morning to see his neurologist. He was admitted under an “on call Dr” that read his chart and made me out to be over anxious Mother, who was “inflicting anxiety on to my son and causing stomach pain!” He has no idea what anxiety is! Anxiety is having a sick child that no one will help!
Caden was now sleeping 15 hours a day and sweating profusely. His liver enzymes were elevated. The GI doctor became concerned at this point and mentioned some very atypical lymphocytes in his blood. They are often associated with the Epstein Bar virus or Leukemia. Luckily tests proved he had neither. By now, we were at the end of March 2002 and Caden’s new pediatrician had become aggravated with treating him. He asked us to pick up our medical records on our last visit. He had no pediatrician for 2 months before we could find another.
April 2 we met with a new neurologist, one who specializing in metabolics. He agreed with Caden’s first neurologist ~ that it was most likely GA2. He was started on Riboflavin and increased his dose of Carnitor. He had a thorough metabolic workup and another skin biopsy. The skin biopsy failed to grow. Luckily, his first neurologist still had some frozen skin cells and she sent it out for a specific GA2 enzyme analysis. May 19, 2002, we received a phone call from Caden’s original neurologist’s nurse. She told me about this defective enzyme called the ETF-QO, that they located via his skin cells. She said that this defect causes the disease Multiple Acyl CoA Dehydrogenase Deficiency or aka Glutaric Aciduria type 2. The enzyme is responsible for the breakdown of fat and protein. His enzyme is only functioning at around 20 to 25%. The Multiple in MADD means that Caden has problems with multiple dehydrogenases, (i.e. short, medium and long chain fatty acids). It also involves other dehydrogenases and all branched chain amino acids. I am unsure of whatever else is involved.
When the endocrinologist, who accused me of MSBP, heard of Caden’s diagnosis through his neurologist, I received a phone call from him apologizing! I did not accept, but I talked with him and urged him to never sweep a child’s problems under the rug again because of “waxing and waning” symptoms.
On our return neurology appointment, June 18, 2002, we officially had a diagnosis of MADD/GA2. We also learned that Caden’s last urine analysis (prior to his Dx) was not good, but hopefully, after starting his low fat, low protein, high carbohydrate diet, things will improve. He will be having a blood protein check often to ensure he is receiving enough protein for proper growth and development. Too much protein is very toxic to his system and can lead to a metabolic crisis. The accumulated fats can build up in the brain, heart and liver quickly, so diet is very important and used as the main treatment. He may also have to have G -tube surgery for low blood sugar and low body weight. We could not obtain a prognosis and that is a bit unnerving. However, it is understandable, as so many complications can arise in the blink of an eye. It is very hard to predict the life span of someone who has such an unpredictable disease.
Caden was only 25 days shy of his 4th birthday before he got a diagnosis! How could it have taken so long to uncover? It was not that this disorder was so terribly hard to diagnose, it was a matter of finding the right doctor to do the right test. The day he was diagnosed was the most bittersweet day of our lives. We were so busy thinking of all of the people we were going to say “I told you so” to that we forgot to be sad. It was a very low moment, but the stress and hopelessness had consumed our lives so, that we were lost for emotion. All we could think about was revenge! Now, a few months later, reality has set in and we realize what we are dealing with (I think). We are also relieved. Knowing is better than not knowing. At least now, we could begin a treatment plan to help our son. Every day is a struggle. There are new issues to deal with every day and just when you think things are settling down, something new will come up or something old will resurface. We do have pity parties occasionally, but have to stop and remind ourselves that if we feel this tired and run down, how must our son feel? We push ourselves that much harder, hopefully, encouraging Caden to do so.
Once we get things under control (if that is a possibility), I plan to work hard in advocating for Newborn Screening. A simple heel stick that costs $25.00 could have saved so much heartache. Caden is very lucky to have survived 4 years undiagnosed. Our job now is to prevent further damage by staying on top of his diet, watching for early signs of metabolic decompensation and learning everything we can about this disorder. As you can tell, we are not a family that gives up! We will continue to battle this disorder with the help of wonderful Specialists like we have now. In addition, I urge anyone in a similar situation to find and join a support group. A support group will help you keep your sanity! You will find that there are other families out there dealing with similar situations. They may be on the other side of the world, but you will never feel the distance. The information and support that we have received from the FOD Family Support Group is priceless.
Thanks for taking the time to read our son’s story.
[The Richards Family have another younger son with GA2 ~ Krystena will update this story in the future]
Mike and Krystena Richards
Caden Richards born July 13,1998 ~ MADD/GA2 diagnosed June 18, 2002
Warren Prater-half sibling, 7 yrs old, unaffected
Jaime Richards-half sibling, 10 yrs old, unaffected