Patient Stories

Kaity's Journey with M-CM

Our journey began when I was 6 months pregnant with Kaity, that is when we found out she had Hydrocephalus.

From 24 weeks on I had excessive amniotic fluid and then at 32 weeks on I had pre-eclampsia. Kaitlyn Emma Elena Lalor was born at Albany Medical Center on September 10th, 2004 at 34 weeks gestation via C section. Kaity weighed in at 8lbs 10oz.  She was intubated for a few hours and had trouble feeding for a week. When she was one week old a neurologist was checking on another baby in the NICU when Kaity’s nurse said she was hiccupping, he looked and said no she was having a seizure. She was put on Phenobarbital, had an MRI and EEGs. Kaity was also seen by a Geneticist (who to this day Kaity still sees every six months) who diagnosed her with Sturge Weber Syndrome. She came home after 11 days in the NICU. She was home for three days and we had to take her to the Paediatrician because she was having trouble breathing, turns out they thought she had Pneumonia and sent her back to Albany Med (just to let you know Albany Med is a little over an hour away from us). She was released the following day because our local hospital misread her chest x ray and she in fact did not have Pneumonia. We soon found out she had asthma. Over the next three months she was in and out of Albany Med at least once a week, sometimes two or three times for either seizures or asthma. We were so grateful to have my mother in law and my parents who took turns taking care of our then 4 year old son and 6 year old daughter. At one month old her seizures were so bad she was having about twenty a day and that is when she was put on Keppra. At a couple of months old we were told she had tracheomalacia and laryngomalacia . At four months old her Geneticist changed Kaity’s diagnosis to Klippel Trenaunay Syndrome. At five months old she started receiving Physical and Occupational therapies twice a week at home.

On May 2nd 2005, Kaity had an MRI that revealed her hydrocephalus was worse than what it was at birth. (I should also add that the MRI also showed she has Chiari Malformation, which we were never told about until March 2012 when we shared our concern with her Neurosurgeon about so many children with M-cm having it. He looked back at the MRI and told us she does indeed have it). On May 6th we met with a neurosurgeon and on May 9th 2005 she had a VP shunt placed. She was in the hospital until the 13th. No infections or revisions thus far (thank God). She has had a few more hospital stays from then until now. Including hernia surgery, tonsils and adenoids removed and when they thought she had shunt failure one Thanksgiving.

When Kaity was around a year and a half old we took her to see a doctor at NYU who specializes in Klippel Trenaunay Syndrome and as we suspected she confirmed that Kaity did not have that.  At 2 and a half years old Kaity’s Geneticist diagnosed her with Macrocephaly Cutis Marmorata Telangiectasia Congenita Syndrome. After reading up on it we were sure we finally got a diagnosis that fit! When Kaity was 3 and a half years old she was diagnosed with Myotonic Muscular Dystrophy. (My father was diagnosed with it in 2004 and I was in 2007)

Kaity started to sit up at about 8 months old, roll over at a year old, crawl at about 20 months old and stand at a little over 2 years old. When she was able to stand on her own her Physical therapist got her a walker and she practiced with that until one day when she was 2 and a half years old she left the walker and started walking on her own! In 2005 she got a stroller/wheelchair for long distances. At around 3 years old she started talking and boy does she like to talk now, she’s never quiet.

Kaity is now an extremely happy and joyous 8 year old, though she is developmentally at about a 4 year old level. Our lives have been forever changed since my pregnancy with her but we would not trade her for anything! She has definitely taught us to not take life for granted, to be strong, to have patience, etc. I could go on and on what she has taught us. Everyone who has met her remembers her. She brightens up a room and puts a smile on everyone’s face!

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About Heidi Heidi Frost lives in the United Kingdom. She is married with three children. The eldest, Jack, was pre-natally diagnosed with profound disabilities when Heidi was 28 weeks pregnant, although he was 8 years old before he was correctly diagnosed with M-CM. Jack is now 17.

Heidi is a full time Mum to Jack and his siblings, and spends her time caring for Jack, attending medical appointments and negotiating the minefield of obtaining necessary services for her son.

Heidi created a website about Jack in 2005 and found that telling Jack’s story was an incredibly positive and healing experience and she is looking forward to assisting other M-CM families to do the same. In her spare time she enjoys writing about her life with Jack on her website and spending time with her husband and children.