We recently got a few answers about what is going on with our little one from a pediatric genetic specialist Dr. John Carey at Primary Children's Hospital. He is not certain that little brother's hernias(inguinal, umbilical, and Morgagni diaphragmatic)are related, but he does know without a doubt that my husband, daughter, and son all have genetic characteristics for Mark and Finlay Syndrome also known as scalp, ear, and nipple syndrome.
They all had similar traits as babies!
What is Mark and Finlay Syndrome(Scalp, Ear, and Nipple Syndrome)? It is a syndrome related to aplasia cutis congenita, which is a scalp condition. According to Wikipedia, Scalp, Ear, and Nipple Syndrome is described as the following:
The key affected features of this condition are described in its name.
Scalp: There are raised nodules over the posterior aspect of the scalp, covered by scarred non-hair bearing skin.
Ears: The shape of the pinnae is abnormal, with the superior edge of the pinna being turned over more than usual. The size of the tragus, antitragus and lobule may be small.
Nipples: The nipples are absent or rudimentary. The breasts may be small or virtually absent.
My husband has aplasia cutis congenita (a scalp defect), the abnormal but cute ears, and accessory nipples (a second set),which we are not sure if it's related. As for my daughter (little sis), she has the abnormal but darling ears and an underdeveloped kidney, which is common in people with this syndrome. Her kidney stopped growing after birth, but remarkably it is still functioning, which we found out in 2010 after she had a kidney infection. Lastly, little brother like his father has aplasia cutis congenita, abnormal but adorable ears. So far no problems with his nipples, but he had many hernias, which we question is related to this syndrome or another one that we have not identified yet.
Father and Son's scalps
In the next few months, my husband, daughter, and son will be participating in a future research study in Washington by Dr. Michael J. Bamshed. Yes, that means they will be sharing a swab of their DNA for genetic specialists to analyze!
Wow, eight months has flew by so fast and my little boy is getting so long and lean! It has been a struggle these last several months because of little brother's health issues and at the same time he has been a great blessing in our lives! Having a baby with so many health problems is very frightening for me especially since I suffer with anxiety. He has definitely taught me patience! For the last several months, my baby has been on feeding and nap strikes, which is very stressful for a Mother who is trying her best. There were many dark moments when I was at my wits end or thought I was being pushed to my limit. I said many prayers to get through the most difficult days when my little man refused to drink his bottle (the days he only consumed 10 oz of breast milk in 24 hours, ack). I recall he had feeding issues since he was two weeks old after we discovered his first hernia because he refused to nurse and didn't drink much bottle. So I have been diligently pumping six times a day so that my baby can benefit from the breast milk. It has been difficult and time consuming to exclusively pump breast milk! I have suffered with mastitis, clogged ducts, blisters, and cracked sore nipples from the breast pump. I groan or drift to sleep during my 5:00 AM pumping sessions, so that I can "sleep feed" my little one before he wakes up. Certainly, he has been in a lot of pain during his short precious life, which explains his horrible feeding behaviors. The doctors and I believe he has developed a conditioned bottle aversion because it hurt so much to drink most of his life. I have been working with a dietitian and feeding therapist to address his feeding issues. We will be following up with a pediatric gastric-intestinal specialist next week. In the mean time, I am happy if he consumes 24 oz of breast milk a day while sleeping! The biggest fear for me is when he starts decreasing the number of naps during the day. Currently he takes three naps a day... As for his gross motor skills, I was referred to Kids on the Move, which is an early intervention program for infants and toddlers with developmental delays. Little brother was recently evaluated by a child developmental therapist. She determined that he needs physical therapy, occupational therapy, and speech therapy. In the next few weeks, we will be very busy with those appointments, which will take place at home, thankfully. I love how Kids on the Move will come to me instead of me going to their clinic. Lastly, we met with a genetic specialist, which I will blog more later. Basically, my husband John, little sister, and little brother have Marks and Finlay Syndrome...
Six Months Old
Milestones: At six months old, little brother was failing to thrive. He was 13 lbs. 5 oz., 26. 1/4 inches long, and 44.5 cm for head circumference. The doctor encouraged me to calorie pack by fortifying my breast milk and introduce other table foods such as fruits and veggies. He hated drinking the fortified breast milk. In fact, he would flat out refuse the bottle if he tasted it! So I just went back to regular breast milk and fortified his milk with his solids, which he didn't notice. Luckily, he likes the stage one veggies and fruits mixed in with cereal, which helps him receive some added nutrition in his diet. As for his gross motor skills, he was sat up with assistance, banged toys together, and laughed when we threw a cup. Sadly, he stopped rolling over around 4.5 months, which I thought was due to wanting to do other things. After his second hernia surgery, a doctor in the hospital told me to have him checked out because a normal baby just won't stop rolling over especially after mastering the skill. The doctors and I believe he was weak and uncomfortable from his diaphragmatic hernia, which I don't blame him. I cannot imagine how much pain he has been in for the last several months dealing with hernia pressure on his vital organs!
Seven Months Old
Milestones: He is slowly gaining weight and barely below 0 on the growth weight chart for his age. He was 14 lbs. and 7 oz. on December 26, 2013. He continues to eat fruits, veggies, and cereals. To our surprise, he is not a huge fan of pears and had a reaction to berries. His diet includes the following: custards, sweet potatoes, and avocados to help him gain weight. The doctor prescribed him acid reflux medicine Zantac, which seems to help with the volume of feedings, however, he still continues to consume most of his liquids during a sleep state. He will sit up for a few minutes and then fall over due to weak core muscles. At a post surgery check up appointment from our pediatrician Dr. Cox, we decided to get many other specialists involved such as a genetics, GI doctor, feeding therapist, Kids on the move, etc.
Eight Months Old
Milestones: On January 23, 2013, he was 14 lbs. 15 oz and 1% on the growth weight chart. He still struggles with his bottle feedings, however, he will drink a couple ounces while awake on his own. The doctor recommended that I fortify his milk again, which he is doing okay with it. I am crossing my fingers that he will continue to drink his milk with formula. Every little bit that helps increase his calorie intake will make a huge difference! Our happy little boy is rolling over again, yay! Once he figured out it no longer hurts to roll over he is moving all over the place! He still hates tummy time though, which we need to work on with physical therapy. Little brother isn't sitting up unsupported very well because he arches his back and falls over, which can be very scary or dangerous. In due time, he will master sitting up. I started some simple sign language to help with his communication. As for fine motor skills, he is starting to grasp at small objects and clap his hands. Slowly, he is making some progress and definitely makes us smile every single day. We love our little man!
