Our youngest son, Trek Atlas, was diagnosed with a rare genetic disorder-Niemann Pick Type A in January 2012. He was expected to live anywhere from 18 months to 3 years old. It is a degenerative disorder. There is no cure or treatment. Trek lived 14 months.
The geneticist said it was a 1 in 1 million chance that Trek got this disease
NPA is so rare there are only 5 children every year in America who are diagnosed. Here are some of our friends that have NPA, their parents have lovingly chronicled their journeys below.
Wylder James-May 15th 2009-July 20th 2012
Kaitlyn-July 1st 2009-March 22nd 2012
Jacob-September 20th 2010-November 15th 2012
Mia-May 31, 2009-October 29, 2011
Niemann Pick in Trek’s mama’s words-
This disease makes me so mad. It is so rare. The internet says 1 in 250,000-Trek’s geneticist said it was more like 1 in 1,000,000.
why could we not have won the lottery with our 1 in 1,000,000 chance?
We found out there are currently 5 children in the U.S. with Niemann Pick Type A. That being the case there is very little research being done on it and there is nothing in the way of a cure.
I always heard of genetic testing and imagined it to be for people who had disorders in their family or for people with a lot of money who wanted to have a perfect child. I never even knew exactly what if was for or that I would be a carrier of a deadly genetic disease.
Basically we have 23 pairs of chromosomes in each of our cells. We get one chromosome from our mom and one from our dad. The geneticist said they think that everyone has at least 5 and up to 13 ‘defective’ recessive chromosomes in their DNA.
(by the way, I am just relaying information as I understand it-hehe-i am no doctor, but I know I was curious about all of this and I wanted to share)
Now all of those recessive ‘bad’ chromosomes don’t ever matter because your other parent gave you a ‘good’ chromosome on that pair. The ‘good’ chromosome is dominant.
The bad part is when you make a baby with someone that has the exact ‘bad’ recessive chromosome as you. Every child you have together then has a 25% chance of having 2 defective chromosomes, this would make their body not work properly. This is where all of the 1 in million chances come in, it is very rare for 2 people to make a baby with the same defective chromosome.
Jarrett and I each have a defective chromosome on our 11th chromosome. We got one good 11th chromosome from our mom/dad and one bad 11th chromosome from our other parent.
We are so blessed and thankful that we had Peyton and Conner with no idea of all of this. They each have a 50% chance that they are a carrier of Niemann Pick Type A (have one defective chromosome on their 11th chromosome), or they have a 25% chance that we each gave them our ‘good’ 11th chromosome and they would not be a carrier.
They can pass it to thier children if they make a baby with someone who is also a carrier of Niemann Pick Type A. This is highly unlikely, but now that we know they could be a carrier, when they are older we will tell them and they can make thier own choices about getting genetic testing.
Depending on which chromosome contains 2 defective parts (1-23), that depends on what genetic disease you have. There are many.
Trek’s 11th chromosome does not work in any cell in his entire body. We can see the effects in ‘storage’ parts of the body like the liver, spleen and eyes most easily. When they took a blood sample they could also see it in his cells, but it will also be effecting his hair, fingernails, skin, everything.
Neimann Pick Type A is a lysosomal storage disease. When your body goes to break things down and recycle things it does so by many enzymes. Not just food, but all the way down to things on a cellular level. Trek is missing an enzyme called acid sphingomyelinase.
Since he doesn’t have this enzyme, his body can’t get rid of sphingomyelin.
This is what is causing his body to shut down. Sphingomyelin has nowhere to go so it accumulates in every cell in his body. This is why they could see the ‘cherry red spot’ in his eyes. It basically was a white cloud around his retina. The white cloud was the accumulation of everything that is not getting broken down in his body.
Eventually this small enzyme that he is missing (so small, smaller than the teeniest cell) will cause cell death and the malfunction of major organ systems.
There is something called “enzyme replacement therapy” for many genetic and metabolic disorders. It is what is sounds like, they inject your body with the enzyme that you are missing. This helps with some diseases, but it does not help with Neimann Pick Type A. Maybe in the future, but there is nothing available now as far as treatment.
This is what makes me so mad. I see my beautiful baby and it kills me to know he is missing this teeny little enzyme. That one thing, that one breakdown on the smallest cellular level is not happening, therefore it is killing him and I can’t do anything about it.
Our bodies are so wonderfully complex and we take them for granted.
He is so beautiful and perfect, I want so bad to keep him. I whisper to him all the time to please don’t leave me, I want to die thinking about it.
Jarrett and I cannot even think about having any more children right now. We of course are making sure that we never do the ‘natural’ way. If later on we decide to have more children we can do IVF. They will take an egg and sperm and before putting the baby into me they can check to see if they have a defective 11th chromosomes. They can even go further than that and make sure the baby only receives our ‘good’ 11th chromosomes so they will not even be a carrier.
The genecticist said that both of our families have been carriers of Neimann Pick Type A for generations. Through genetic testing we could possibly remove it from our bloodline.
Here is an overview and some links-
Niemann-Pick Type A, sometimes referred to as infantile Niemann-Pick disease, results from deficient activity of acid sphingomyelinase (ASM), which metabolizes sphingomyelin. In Niemann-Pick type A, sphingomyelin accumulates within cells, eventually leading to their death. Children with Niemann-Pick A have very little residual activity of ASM.
Niemann-Pick Disease Types A and B both result from deficient activity of ASM. The degree of deficiency is most marked in Niemann-Pick A and less severe in Niemann-Pick B. Niemann-Pick C does not result from an enzyme defect but is caused by mutations in two separate genes, both of which affect the trafficking of lipids within cells.
Niemann-Pick Disease Type A affects all races and ethnicities but is more common among the Ashkenazi Jewish population. The carrier frequency for either Niemann-Pick Disease Type A or B is estimated at one in one thousand Ashkenazi Jews. Niemann-Pick Type A is more frequent than Niemann-Pick Type B and accounts for 60% of the cases of ASM deficiency.
The symptoms of Niemann-Pick Type A manifest in the first few months of life. At six months of age, feeding difficulties occur, along with progressive loss of early motor skills and enlargement of the abdominal organs. The skin may also discolor, taking on a brownish to yellowish hue. Approximately half of affected children will develop a cherry-red spot in their eye. As the disease progresses, motor and mental functions decline.
Niemann-Pick Type A is an autosomal recessive disorder.
Life expectancy for Niemann-Pick Type A is commonly between two and three years of age.
Diagnosis and Testing:
Niemann-Pick Disease Type A is diagnosed by measuring the activity of acid sphingomyelinase (ASM) in blood cells or tissue biopsies. Typically, patients with Niemann-Pick A have less than one percent of normal activity. Prenatal screening can be performed using enzyme assay on fetal fluid or cells but is most accurate when molecular analysis for mutation in the ASM gene is performed.
There is no effective treatment for children affected by Niemann-Pick Type A. Symptom management includes controlling the associated respiratory, cardiovascular, and gastroenterology symptoms. Nutritional and physical therapy are additional supportive treatment options to assist with feeding difficulties and the decline of motor skills in children affected by Niemann-Pick disease Type A.