my sister wrote the following piece on her son and his battle with menkes disease. he has since passed on, after five years of fighting the inevitable. why does god send us angels only to take them away so abruptly?
Matty was born on November 4, 2002 at 11:40 p.m. He weighed in at 6 pounds, ten ounces, and was nineteen inches long. He was full term and delivered naturally. I started my prenatal at five months but was using a pregnancy guide online to take me through each week. When I went for my appointments and my ultrasound Matty’s development was where it should be.
My mom had three brothers in 60’s and 70’s who all have passed away at a young age. Technology was very limited back then, all they had was a CT-Scan. The doctors could only diagnose them as epileptic, hydra-cephalic, and cerebral palsy. I had a baby brother in 1991 that also had seizures and respiratory problems. He was flown out to UCLA for an MRI and further evaluation. The doctor there could not give my parents answers to their questions or a name for this cause. All he was able to tell them was that if me or my sister were to have a son it would be a fifty-fifty chance that our son could turn out like my brother. If we had a daughter it’d be a fifty-fifty chance she’d become a carrier. My brother passed away in 1993, he was only two.
Four days after Matty turned a month old, Guam was hit by Super-Typhoon Pongsona. It left us in the dark for two months. Matty was a “normal” baby boy. He loved to eat, sleeping in mommy’s bed, being carried, cried when he was hungry and soiled, and most especially cried if he was put down in his stroller. At one point he was able to pick up his head while on his tummy, grasp items in his hands and smile. He was such a character.
One night while sitting in our lantern lighted living room, I noticed Matty taking “a lot of naps.” After I fed him I decided to put him down since he fell asleep. He didn’t wake up, usually he’ll wake up and cry once I put him down but he stayed asleep. The times that he did wake up he would twitch on his fingers, his toes, and his head, very mildly. My mom came home worried, she picked him up and brought him all around the lanterns we had. She tried to wake him up but he barely budged. After fifteen minutes he finally got up and started twitching again. She told my dad, “Oh my God it’s happening again.” We rushed him to the emergency room that night and he wouldn’t show the doctor what we saw at home. They sent us home and told us to follow up with his pediatrician.
The next day we were seen at the clinic but Matty wouldn’t do the twitches for his doctor. He said it sounds like seizures. He gave us a referral to see the neurologist at the hospital. Matty was asleep while the neurologist was examining him. He noticed that Matty’s head circumference was growing twice as fast (1 cm a month) as it should. He ordered a CT-Scan which came out normal but after the procedure was done he saw Matty jerking. He prescribed him Phenobarbital and sent us home to closely monitor him along with monthly level checks.
A month after (January 2003) he had an MRI; it only showed that there was some fluid in the brain but is “normal in infants.” Since then his head was still growing, he was still having seizures which I had to keep a log of, and started having blue spells. He would be eating, breathing, or sleeping and just start turning blue. They put him in for a 24 hour observation and again saw nothing. He was discharged and sent home with another medication, Tegretol. He had an EEG done which showed disturbance in the left brain. Other times we brought him in for prolonged seizures but we always got sent home.
In March 2003 he had another appointment with the neurologist. Matty’s head was still growing a little fast so he ordered another CT-Scan. Ten minutes after leaving the hospital the doctor called us back right away. We rushed back to hear horrible news. At the time I was very lost with all these medical terms. All I remember him saying was something about “grey matter.” What I did understand was when he said, “His outlook doesn’t look good”, it looks to be degenerative so we need to prevent his seizures, he showed us a comparison of brain scans showing us what a normal brain should look like and that there’s fluid. He’s never seen a scan like that and couldn’t make any real diagnosis but to classify Matty as epileptic. He gave us a medical referral to Loma Linda. We worked on our papers right away but just to receive more bad news from the referral office. Loma Linda’s next available appointment was in July. The referral office representative checked other Guam affiliated hospitals in Hawaii and California but none would want to accept Medicaid from Guam due to lack of payments.
July finally came and we made it out to Loma Linda. There we saw Dr. Stanford Shu at the Pediatric Neurology Clinic. As he examined Matty we were giving the family history to his student assistant. He kept feeling Matty’s hair between his finger tips and said, “Notice there are no natural oils.” He asked the assistant if she knows what it could be and she replied, “It could be Menkes.” He saw the MRI scans and pointed everything out that the neurologist on Guam couldn’t see. It turns out that everything he said about the MRI the neurologist on Guam said about the second CT-Scan. Matty ended up getting admitted to a critical but stable care unit at Loma Linda University Children’s Hospital. He ordered everything urgent due to our limited stay.
There Matty had an IV line stitched into his groin. He was under heating lamps due to hypothermia. They said he was obese. His Phenobarbital level was too high and the Tegretol for some reason was causing him to have more seizures. He was hooked up to a 24 hour EEG and had numerous blood works. They even took hair samples. He had all these monitors hooked up to him and more scans were done.
Matty was seen by a geneticist who officially diagnosed him with Menkes Syndrome and explained into detail what it was. He said that there is no cure but copper treatments. However, he was too far into the disease to benefit from any treatment. Matty was only their third known case and with their studies the oldest lived to three years old. So based on that and his tests results they gave him at least 3 years. Matty was followed by a great team of neurology residents. Matty was even seen by a team of pediatric neurosurgeons who came for consult. They didn’t want to remove the fluid because it would cause Matty a lot of pain and nothing would be there to support his brain. After a week he was discharged. We had a follow up with Dr. Shu the week after. He prescribed him Valproic Acid, Dilantin and Topomax. We got to leave Loma Linda with an answer.
Since returning to Guam, we found out that Matty is the only known case on island. He was being followed by Guam Early Intervention. He was admitted several times for severe congestion and pneumonia, mainly affecting the right lung. All the things that Matty was able to do when he was an infant (like laugh on cue, hold up his head, etc.) could not be done anymore. All his movements and laughs are spontaneous. We always talk to him and make conversations when he gets vocal and has his silly expressions.
He needs full physical assistance. He has poor muscle tone. He cannot walk, talk or sit. He needs to be carried from place to place. He also has a Kid Kart (specialized wheelchair) fit to his needs. He is fed through a baby food feeder. He cannot drink thin liquids without choking. He’s had three barium swallowing tests. It showed that he does aspirate with thin liquids and someday he will need the G-Tube. However Matty, loves to eat and sucks his bottle like there’s no tomorrow. After his first hair cut his hair became thick and started to show the kinks. Some parts of his hair have grey ashy tones and some white. He has very poor eyesight and requires glasses, he’s very near sighted. His hearing is perfect. He has droopy chubby cheeks. His gums are thick from the Dilantin. His palette is high arched. His chest protrudes; he is no longer able to sleep on his tummy. His spine has a curvature. His wrists cannot face up at a 90 degree angle. His feet turn inwards and he wears braces for both wrist and ankles. He’s followed by Shriners every six months. He’s always congested and needs suctioning.
Matty attends the Medically Fragile Pre-School at Tamuning Elementary School. He receives Physical, Occupational, and Speech Therapy. When Matty is not able to attend school the related services visit him at home or the hospital. His immune system is very weak and is very susceptible to illnesses. He is a strong and healthy boy. I try my best to take care of him and give him what he needs. He may not be able to talk or do things as a normal five year old would do, but just knowing how much he’s been through, is something most people our age haven’t even experienced. He exceeded the life span, he is a true miracle. Hopefully God continues to give us more blessings by giving Matty many more years ahead of him. He’s a real fighter and he is my hero. Because of him, I learned the true meaning and value in life.
I miss my nephew…this sucks….
