We were excited to find out we were going to have a baby and couldn’t wait to find out the sex. The day finally came to find out whether we were having a boy or a girl. The Sonographer was doing my ultrasound and she got quiet and kept looking at a certain area. She said she would be right back. When she came back she had my doctor with her. Both of them where looking while she was measuring a certain area on the screen. The doctor told us we were going to have a boy and we were going to be sent to a high risk OB. The ultrasound showed that he had pyelectasis which was a sign of Down Syndrome.The high risk doctor recommended I have an amniocentesis to determine if he had Down Syndrome. We got the results back and he did not have it. I was followed up by the high risk doctor monthly because if he was to still have that at birth then he would require surgery. Everything looked good until my 36 ½ week ultrasoundrevealed that I had Oligohydramnios. I was sent to the hospital to be induced. After 34 ½ hours of labor and the assistance of the suction and forceps Gavin was finally here. He weighed 5lbs 10oz and was 18 ½ inches long and had the softest cry. I tested positive for Group B strep during labor and Gavin got it as well during delivery. He also had jaundice so due to that and positive Group B he stayed in the hospital a week for light therapy and to receive antibiotics.
At his 2 week checkup the doctor said he had a heart murmer. He was referred to a cardiologist who said he had four holes in his heart called Ventricular Septal Defect. With that special type of defect if it does not close on its own by age 3 they have to do surgery to repair it. At 2 month’s old he only weighed a little over 6 lbs. so the doctor increased the calories in his formula. We had to go for weekly weight checks for 2 month’s and there was no change. He was still 6 pounds and was placed in Children’s Healthcare of Atlanta for failure to thrive. They placed a feeding tube and started running tests. An ultrasound showed an area of concern in his liver. The doctor said it could be cancer, infection or vessel’s in a knot. An MRI revealed that it was just a vessel in a knot and would resolve on its own. A month in the hospital and test after test finally revealed that Gavin had poor suction. He had to work so hard to get milk that he was actually burning calories instead of gaining. A therapeutic feeding team placed him on a fast flow nipple so he would get milk easier. He finally started growing, slowly but surely.
During his 6 month checkup the doctor asked if anyone in the family had Neurofibromatosis? When I asked why, he said Gavin has café au lait spots and they are a sign of NF. At the time he had 4 and you must have 6 or more along with another sign to be diagnosed. He was then referred to a Genetic specialist at TC Thompson’s Children’s Hospital. We saw the genetics doctor and she did a full exam and asked lots of questions. She also asked me if anyone in our family had NF and I said not that that we know of. She asked to examine me and said to me, I believe you have it. I always thought I just had a lot of birth marks when in reality they were café au lait spots. At that time Gavin was not diagnosed yet due to not having all of the signs. I was to get a thorough exam myself to see if I indeed had it and we would go back in 6 months to see if Gavin developed more signs. I had the exam done and it confirmed me having NF.
At about a year old he was sent to an ENT due to continuously getting ear infections. A hearing exam was done before he was to get tubes placed. The hearing tested showed he has Unilateral Sensorineural Hearing Loss in his left ear. He got tubes & adenoids removed. Then he was fitted for a hearing aid. He started speech therapy as well. By the time he was 18 month’s old, his 1 set of tubes came out and he had to have them put in again. At 2 he had enough Café au Lait Spots and along with me being diagnosed that he was confirmed to having NF Type 1. We were then referred to a genetics specialist at CHOA that specialized in treating Neurofibromatosis.
Neurofibromatosis encompasses a set of distinct genetic disorders that cause tumors to grow along various types of nerves and, in addition, can affect the development of non-nervous tissues such as bones and skin. Neurofibromatosis causes tumors to grow anywhere on or in the body. Neurofibromatosis 1 (NF1): also known as Von Recklinghausen NF or Peripheral NF. occurs in 1:3,000 births, it is characterized by multiple cafe-au-lait spots and neurofibromas on or under the skin. Enlargement and deformation of bones and curvature of the spine (scoliosis) may also occur. Occasionally, tumors may develop in the brain, on cranial nerves, or on the spinal cord. About 50% of people with NF1 also have learning disabilities.
Genetics of NF1 and NF2
NF1 and NF2 are called autosomal dominant genetic disorders. Half of all cases are inherited from a parent who has NF1 or NF2; half of all cases are not inherited but the result of a new or spontaneous mutation (change) in the sperm or egg cell. Each child of a parent with NF1 or NF2 has a 50% chance of inheriting the gene and developing NF1 or NF2. The type of NF inherited by the child is always the same as that of the affected parent (i.e. if the parent has NF1, each child is at 50% risk for NF1. If the parent has NF2, each child has a 50% chance to inherit NF2). However, the severity and the kind of manifestations may differ from person to person within a family. When a parent has NF1 or NF2, there is a 50% chance with each pregnancy for the child to receive the NF1 or NF2 gene, and a 50% chance for the child to receive two unaffected genes and to be free of NF1 or NF2. The child with NF1or NF2, as a result of a new mutation, does have the 50-50 chance of passing the NF1 or NF2 gene on to his or her children. Unaffected parents who have a child born with NF1 or NF2 because of a spontaneous mutation do not have a 50-50 risk in future pregnancies. Their chance for another child with NF1 is about the same as that of any couple in the general population, that is, one chance in 7,000. One additional birth in every 7,000 results in a child who has inherited NF1 from a parent with the disorder. Thus, a total of 2 children in 7,000 or 1 in 3,500 are born with NF. When you have NF you then have to have MRI’s once a year, the 1st one would consist of a full body scan. Then you see a genetics specialist, ophthalmologist, dermatologist, neurologist, orthopedic Surgeon. Along with me being diagnosed, Gavin was confirmed to having NF type 1. We were then referred to a genetics specialist at CHOA that specialized in treating Neurofibromatosis.
After the diagnosis Gavin then started the process of seeing all the specialist and having scan done. His 1st set of scans showed he has “bright spot’s” in is brain which is common for people with NF. So far he is just mild affected with NF. At age 3 he had his 3rd set of tubes placed. It was time again for his yearly cardiologist apt to check his holes and they were all completely closed, so no surgery. At 5 he had his 4th set of tubes and had his tonsils removed. He started kindergarten at age 6 and everything seemed ok. In 1st grade I noticed he had hard time learning. At his yearly NF checkup I told the NF doctor about it. She referred him to a Neuropsychologist for an evaluation. The test revealed he had Dyslexia, problems with visual perceptual skills, as well as with working memory, attention span, executive functioning, and with fine motor skills, math disability. In 3nd grade with the information from the Neuropsy doctor he was evaluated for ESS. It was decided he was eligible for services for ESS inclusion classroom setting under the hearing impaired category. His yearly MRI revealed a Chiari Malformation with a 6 mm cerebellum protrudes. He started having a lot of problems with his memory and repeating himself. I took him to the doctor and the doctor ordered an EEG. He was then diagnosed with Epilepsy and referred to a Neurologist. He was diagnosed with absence seizures and placed on seizure meds. After being on one medicine it was determined he was still having seizures so he was placed on another one. As a result of being on two seizure medicines he developed 4 kidney stones and had to have Lipotripsy to remove them. A couple of days later he started feeling really bad and running a fever. I took him back to the doctor and he thought maybe he was getting an infection so he put him on antibiotics
on that day he developed a 103 fever with Motrin so I immediately
called the doctor office. His doctor then decided to place Gavin in the
hospital and ordered a spinal tap. He was afraid Gavin had Spinal
Meningitis. They did the tap and placed Gavin on IV antibiotics. The
next day he had a
severe headache and was throwing up if he sat up. The tap results were normal so no meningitis but his labs was bad. At that point it was decided to send him to Scottish Rite by ambulance. The doctor there discovered he had a leak from the spinal tap so they started the combination meds
that is used to seal it. 48 hours and he was feeling much better but then labs came back to reveal he had staph from the lipotripsy. So another 48 hour’s on IV antibiotics called vancomycin. He was finally well enough to go home.
During 4th grade we decided it would be better from him to be in ESS for OHI. At that time his seizures were controlled and his services were helping him. 5th grade went well and he was doing wonderful with ESS for OHI. Time for 6th grade and I was scared to death for him to go and decide to homeschool him. We started on homeschooling and he hated it. We gave him the decision on what to do and he decides to go to SMS where his friends from elementary went.
It started out rough for him and he had several kids be mean to him. One day he came home with the forms to sign up for the wrestling team. I was hesitant on letting him and even emailed the coach. Coach Bowers told me to let him try it out, that its muscle memory. So we gave it a shot and it was the best decision we have ever made. He loves the coach and so do we. He made friends and enjoyed it a lot. He did a really good job for his 1st year ever wrestling. He placed 3rd for the region in his weight category. He still has a really hard time in school and learning will never come easy for him.
He is now in 7th grade and still is on the wrestling team and is doing awesome again at it this year. Gavin is the sweetest most caring 13 years old I know and he is our hero! He has Neurofibromatosis type 1,Epilepsy, Chiari Malformation, and Unilateral Sensorineural hearing loss, Dyslexia, LD’s and expressive language disorder. He never complains about any of his challenges and he always gives his best at everything he does.